Incidental Mutation 'R0755:Cntrl'
| ID |
70388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
038935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R0755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35035151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 373
(S373N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113033]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000156933]
[ENSMUST00000201787]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028237
AA Change: S926N
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: S926N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
8e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113032
AA Change: S926N
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: S926N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
72 |
381 |
N/A |
INTRINSIC |
|
coiled coil region
|
413 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
960 |
N/A |
INTRINSIC |
|
coiled coil region
|
989 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1059 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113033
AA Change: S373N
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108656
Gene: ENSMUSG00000057110
AA Change: S373N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
|
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113034
AA Change: S373N
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
AA Change: S373N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
261 |
278 |
5.68e-5 |
PROSPERO |
|
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
|
coiled coil region
|
445 |
549 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
566 |
579 |
1.52e-6 |
PROSPERO |
|
internal_repeat_2
|
568 |
596 |
2.75e-5 |
PROSPERO |
|
low complexity region
|
600 |
608 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
626 |
653 |
2.75e-5 |
PROSPERO |
|
low complexity region
|
715 |
748 |
N/A |
INTRINSIC |
|
coiled coil region
|
767 |
1076 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1095 |
1112 |
5.68e-5 |
PROSPERO |
|
low complexity region
|
1184 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1356 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1388 |
N/A |
INTRINSIC |
|
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
|
low complexity region
|
1421 |
1432 |
N/A |
INTRINSIC |
|
low complexity region
|
1640 |
1655 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1699 |
1712 |
1.52e-6 |
PROSPERO |
|
low complexity region
|
1736 |
1754 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113037
AA Change: S373N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: S373N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
261 |
278 |
5.34e-5 |
PROSPERO |
|
coiled coil region
|
305 |
548 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
565 |
578 |
1.42e-6 |
PROSPERO |
|
internal_repeat_2
|
567 |
595 |
2.58e-5 |
PROSPERO |
|
low complexity region
|
599 |
607 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
625 |
652 |
2.58e-5 |
PROSPERO |
|
low complexity region
|
714 |
747 |
N/A |
INTRINSIC |
|
coiled coil region
|
766 |
1075 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1094 |
1111 |
5.34e-5 |
PROSPERO |
|
low complexity region
|
1183 |
1223 |
N/A |
INTRINSIC |
|
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1365 |
1387 |
N/A |
INTRINSIC |
|
low complexity region
|
1399 |
1414 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1431 |
N/A |
INTRINSIC |
|
low complexity region
|
1639 |
1654 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1698 |
1711 |
1.42e-6 |
PROSPERO |
|
low complexity region
|
1735 |
1753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123884
AA Change: S526N
|
| SMART Domains |
Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110
AA Change: S526N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
400 |
N/A |
INTRINSIC |
|
coiled coil region
|
458 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156933
AA Change: S926N
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: S926N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201787
AA Change: S15N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143914
Gene: ENSMUSG00000057110
AA Change: S15N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
71 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730061H03Rik |
A |
T |
14: 55,797,638 (GRCm39) |
|
probably benign |
Het |
| Acin1 |
A |
G |
14: 54,889,292 (GRCm39) |
M1T |
probably null |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Aldh1a1 |
A |
G |
19: 20,595,358 (GRCm39) |
M96V |
probably benign |
Het |
| Ankfn1 |
T |
A |
11: 89,282,913 (GRCm39) |
M245L |
probably benign |
Het |
| Arhgap19 |
T |
C |
19: 41,769,614 (GRCm39) |
K54E |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,116,948 (GRCm39) |
Q223R |
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,247,330 (GRCm39) |
V557I |
possibly damaging |
Het |
| AU041133 |
A |
T |
10: 81,986,724 (GRCm39) |
K126* |
probably null |
Het |
| Axin1 |
T |
A |
17: 26,401,480 (GRCm39) |
Y351N |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,221,367 (GRCm39) |
K176E |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,955,560 (GRCm39) |
T848I |
possibly damaging |
Het |
| Bbs2 |
A |
C |
8: 94,808,708 (GRCm39) |
V333G |
probably benign |
Het |
| BC051019 |
G |
A |
7: 109,315,302 (GRCm39) |
Q318* |
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,000,513 (GRCm39) |
S1231P |
probably damaging |
Het |
| Cdc37 |
C |
T |
9: 21,051,160 (GRCm39) |
D362N |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,583,319 (GRCm39) |
V1020E |
probably damaging |
Het |
| Chrm4 |
T |
C |
2: 91,758,747 (GRCm39) |
V385A |
probably benign |
Het |
| Col23a1 |
G |
A |
11: 51,467,706 (GRCm39) |
G19D |
probably damaging |
Het |
| Cyb5r4 |
G |
T |
9: 86,911,625 (GRCm39) |
A100S |
probably damaging |
Het |
| Dctn1 |
C |
T |
6: 83,166,059 (GRCm39) |
P115S |
probably damaging |
Het |
| Dhrs2 |
C |
T |
14: 55,472,247 (GRCm39) |
T46M |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,620,243 (GRCm39) |
F325S |
probably benign |
Het |
| Dnah11 |
T |
G |
12: 117,918,564 (GRCm39) |
T3456P |
possibly damaging |
Het |
| Dnah11 |
C |
A |
12: 118,162,360 (GRCm39) |
V70F |
probably benign |
Het |
| Duoxa1 |
T |
A |
2: 122,135,161 (GRCm39) |
T195S |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,175,412 (GRCm39) |
I922V |
probably benign |
Het |
| Eif2ak1 |
T |
A |
5: 143,821,742 (GRCm39) |
F353I |
possibly damaging |
Het |
| Esam |
A |
G |
9: 37,447,998 (GRCm39) |
T211A |
probably damaging |
Het |
| Faf1 |
A |
G |
4: 109,819,036 (GRCm39) |
N636S |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,985,219 (GRCm39) |
Y305C |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,101,803 (GRCm39) |
|
probably null |
Het |
| Fdxacb1 |
T |
A |
9: 50,683,025 (GRCm39) |
D329E |
possibly damaging |
Het |
| Gvin2 |
A |
T |
7: 105,545,892 (GRCm39) |
F2387I |
possibly damaging |
Het |
| Hbq1b |
A |
T |
11: 32,237,104 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,343,172 (GRCm39) |
V4566E |
probably damaging |
Het |
| Igkv6-29 |
G |
A |
6: 70,116,053 (GRCm39) |
T5I |
probably benign |
Het |
| Itfg1 |
A |
T |
8: 86,452,834 (GRCm39) |
D511E |
possibly damaging |
Het |
| Jmjd1c |
C |
T |
10: 66,932,378 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
T |
A |
14: 21,687,661 (GRCm39) |
M570K |
probably damaging |
Het |
| Kdm4d |
T |
A |
9: 14,375,591 (GRCm39) |
K89M |
probably damaging |
Het |
| Krt19 |
A |
T |
11: 100,032,965 (GRCm39) |
D194E |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,123,196 (GRCm39) |
Y665N |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,221,872 (GRCm39) |
S1556T |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,263,719 (GRCm39) |
L4924P |
probably damaging |
Het |
| Mef2c |
G |
A |
13: 83,804,472 (GRCm39) |
|
probably null |
Het |
| Mff |
G |
A |
1: 82,728,326 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,412,230 (GRCm39) |
L2581Q |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nos3 |
T |
A |
5: 24,572,295 (GRCm39) |
L123M |
probably damaging |
Het |
| Ntn5 |
C |
T |
7: 45,335,952 (GRCm39) |
P128S |
probably benign |
Het |
| Nudt9 |
T |
C |
5: 104,212,920 (GRCm39) |
V331A |
probably damaging |
Het |
| Or2y3 |
A |
T |
17: 38,393,085 (GRCm39) |
Y261* |
probably null |
Het |
| Or7g34 |
T |
C |
9: 19,478,415 (GRCm39) |
I88M |
possibly damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,877,664 (GRCm39) |
K406N |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,336 (GRCm39) |
I1867L |
probably benign |
Het |
| Plppr4 |
C |
T |
3: 117,116,319 (GRCm39) |
G455R |
possibly damaging |
Het |
| Pramel11 |
A |
G |
4: 143,624,299 (GRCm39) |
V66A |
probably damaging |
Het |
| Prkag2 |
G |
C |
5: 25,152,629 (GRCm39) |
S158R |
probably benign |
Het |
| Ptprq |
T |
G |
10: 107,418,400 (GRCm39) |
T1659P |
probably benign |
Het |
| Rasl12 |
A |
G |
9: 65,318,241 (GRCm39) |
K202E |
probably benign |
Het |
| Rb1 |
A |
C |
14: 73,434,653 (GRCm39) |
*922G |
probably null |
Het |
| Rsf1 |
C |
T |
7: 97,229,174 (GRCm39) |
P22S |
probably damaging |
Het |
| Scn1a |
T |
G |
2: 66,151,379 (GRCm39) |
T797P |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,756,323 (GRCm39) |
V342A |
probably damaging |
Het |
| Slc22a7 |
T |
G |
17: 46,749,113 (GRCm39) |
H68P |
possibly damaging |
Het |
| Slc4a2 |
G |
A |
5: 24,640,575 (GRCm39) |
A652T |
probably benign |
Het |
| Slc5a1 |
T |
A |
5: 33,290,733 (GRCm39) |
L106M |
probably benign |
Het |
| Slco1c1 |
C |
T |
6: 141,477,258 (GRCm39) |
P19S |
probably damaging |
Het |
| Snx1 |
A |
G |
9: 66,005,738 (GRCm39) |
F127S |
probably damaging |
Het |
| Snx31 |
A |
T |
15: 36,534,576 (GRCm39) |
I199N |
probably damaging |
Het |
| Snx33 |
T |
C |
9: 56,832,741 (GRCm39) |
I443V |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,089,016 (GRCm39) |
F749L |
probably damaging |
Het |
| Stoml3 |
T |
A |
3: 53,405,559 (GRCm39) |
Y53* |
probably null |
Het |
| Stxbp2 |
A |
G |
8: 3,692,019 (GRCm39) |
T554A |
probably benign |
Het |
| Tal1 |
T |
C |
4: 114,925,573 (GRCm39) |
I214T |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 40,468,344 (GRCm39) |
I58N |
probably damaging |
Het |
| Thap1 |
A |
G |
8: 26,648,501 (GRCm39) |
Y8C |
probably damaging |
Het |
| Thsd7a |
A |
T |
6: 12,555,368 (GRCm39) |
L172Q |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,842,740 (GRCm39) |
D735E |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,544,082 (GRCm39) |
D402N |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,779 (GRCm39) |
R902S |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,570,982 (GRCm39) |
Y1276H |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,576,026 (GRCm39) |
F843L |
probably benign |
Het |
| Vmn1r198 |
C |
T |
13: 22,539,402 (GRCm39) |
T296I |
probably benign |
Het |
| Vmn1r33 |
A |
T |
6: 66,588,892 (GRCm39) |
S221T |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,830 (GRCm39) |
D69G |
probably benign |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,226 (GRCm39) |
L563F |
possibly damaging |
Het |
| Vmn2r60 |
G |
A |
7: 41,844,869 (GRCm39) |
G744D |
probably damaging |
Het |
| Vstm4 |
T |
C |
14: 32,614,601 (GRCm39) |
V181A |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,052,376 (GRCm39) |
V136I |
probably benign |
Het |
| Zfp236 |
T |
A |
18: 82,638,457 (GRCm39) |
N1388Y |
probably damaging |
Het |
| Zfp53 |
T |
A |
17: 21,728,839 (GRCm39) |
F291I |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,889 (GRCm39) |
H119Q |
possibly damaging |
Het |
|
| Other mutations in Cntrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cntrl
|
APN |
2 |
35,027,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL00478:Cntrl
|
APN |
2 |
35,050,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01460:Cntrl
|
APN |
2 |
35,055,856 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01556:Cntrl
|
APN |
2 |
35,063,071 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02155:Cntrl
|
APN |
2 |
35,050,250 (GRCm39) |
splice site |
probably benign |
|
|
IGL02419:Cntrl
|
APN |
2 |
35,024,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4480001:Cntrl
|
UTSW |
2 |
35,045,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0179:Cntrl
|
UTSW |
2 |
35,057,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Cntrl
|
UTSW |
2 |
35,041,744 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0471:Cntrl
|
UTSW |
2 |
35,017,392 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0763:Cntrl
|
UTSW |
2 |
35,061,078 (GRCm39) |
missense |
probably benign |
|
|
R0781:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0791:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0792:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0801:Cntrl
|
UTSW |
2 |
35,065,107 (GRCm39) |
splice site |
probably benign |
|
|
R1067:Cntrl
|
UTSW |
2 |
35,039,034 (GRCm39) |
unclassified |
probably benign |
|
|
R1110:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1117:Cntrl
|
UTSW |
2 |
35,017,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Cntrl
|
UTSW |
2 |
35,012,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1472:Cntrl
|
UTSW |
2 |
35,059,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1522:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1702:Cntrl
|
UTSW |
2 |
35,061,848 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1762:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1785:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1786:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1812:Cntrl
|
UTSW |
2 |
35,039,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1854:Cntrl
|
UTSW |
2 |
35,012,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Cntrl
|
UTSW |
2 |
35,008,131 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1868:Cntrl
|
UTSW |
2 |
35,019,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1914:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1915:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2118:Cntrl
|
UTSW |
2 |
35,051,977 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2140:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2142:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2203:Cntrl
|
UTSW |
2 |
35,033,749 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2300:Cntrl
|
UTSW |
2 |
35,017,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2349:Cntrl
|
UTSW |
2 |
35,066,263 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2374:Cntrl
|
UTSW |
2 |
35,043,288 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3429:Cntrl
|
UTSW |
2 |
35,035,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Cntrl
|
UTSW |
2 |
35,060,492 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3911:Cntrl
|
UTSW |
2 |
35,010,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:Cntrl
|
UTSW |
2 |
35,019,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4081:Cntrl
|
UTSW |
2 |
35,065,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Cntrl
|
UTSW |
2 |
35,051,938 (GRCm39) |
splice site |
probably benign |
|
|
R4516:Cntrl
|
UTSW |
2 |
35,017,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4518:Cntrl
|
UTSW |
2 |
35,038,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Cntrl
|
UTSW |
2 |
35,063,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Cntrl
|
UTSW |
2 |
35,039,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4753:Cntrl
|
UTSW |
2 |
35,043,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4763:Cntrl
|
UTSW |
2 |
35,065,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5168:Cntrl
|
UTSW |
2 |
35,047,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Cntrl
|
UTSW |
2 |
35,024,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Cntrl
|
UTSW |
2 |
35,038,911 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5947:Cntrl
|
UTSW |
2 |
35,006,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6147:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6214:Cntrl
|
UTSW |
2 |
35,019,646 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6267:Cntrl
|
UTSW |
2 |
35,019,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Cntrl
|
UTSW |
2 |
35,018,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6445:Cntrl
|
UTSW |
2 |
35,052,860 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6487:Cntrl
|
UTSW |
2 |
35,012,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6497:Cntrl
|
UTSW |
2 |
35,025,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6782:Cntrl
|
UTSW |
2 |
35,060,658 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6815:Cntrl
|
UTSW |
2 |
35,039,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Cntrl
|
UTSW |
2 |
35,019,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6858:Cntrl
|
UTSW |
2 |
35,052,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6965:Cntrl
|
UTSW |
2 |
35,052,845 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6970:Cntrl
|
UTSW |
2 |
35,008,149 (GRCm39) |
missense |
probably benign |
|
|
R7085:Cntrl
|
UTSW |
2 |
35,055,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Cntrl
|
UTSW |
2 |
35,055,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7213:Cntrl
|
UTSW |
2 |
35,025,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7221:Cntrl
|
UTSW |
2 |
35,041,869 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7389:Cntrl
|
UTSW |
2 |
35,017,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7414:Cntrl
|
UTSW |
2 |
35,055,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7427:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7453:Cntrl
|
UTSW |
2 |
35,045,421 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7747:Cntrl
|
UTSW |
2 |
35,006,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Cntrl
|
UTSW |
2 |
35,001,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Cntrl
|
UTSW |
2 |
35,060,592 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7919:Cntrl
|
UTSW |
2 |
35,017,413 (GRCm39) |
missense |
probably benign |
|
|
R8314:Cntrl
|
UTSW |
2 |
35,065,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8332:Cntrl
|
UTSW |
2 |
35,016,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Cntrl
|
UTSW |
2 |
35,038,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Cntrl
|
UTSW |
2 |
35,023,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8717:Cntrl
|
UTSW |
2 |
35,003,351 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8960:Cntrl
|
UTSW |
2 |
35,052,053 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9036:Cntrl
|
UTSW |
2 |
35,016,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Cntrl
|
UTSW |
2 |
35,035,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9621:Cntrl
|
UTSW |
2 |
35,050,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF007:Cntrl
|
UTSW |
2 |
35,060,512 (GRCm39) |
missense |
probably benign |
|
|
RF016:Cntrl
|
UTSW |
2 |
35,009,998 (GRCm39) |
missense |
probably benign |
|
|
RF017:Cntrl
|
UTSW |
2 |
35,065,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0024:Cntrl
|
UTSW |
2 |
35,037,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Cntrl
|
UTSW |
2 |
35,039,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0027:Cntrl
|
UTSW |
2 |
35,047,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Cntrl
|
UTSW |
2 |
35,037,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTGCTAAAGTCCAATGCTGA -3'
(R):5'- TGAGTGTGGGCTCCACCTCTGA -3'
Sequencing Primer
(F):5'- catacacacacaggcacaag -3'
(R):5'- TGACCCTGTCCCCAGGAAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation