Incidental Mutation 'R6332:Cntrl'
| ID |
513152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
044486-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R6332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35018036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 482
(I482K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028235]
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113033]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000156933]
[ENSMUST00000150807]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028235
AA Change: I482K
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: I482K
| 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 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028237
AA Change: I482K
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: I482K
| 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: I482K
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: I482K
| 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 |
probably benign
Transcript: ENSMUST00000113033
|
| SMART Domains |
Protein: ENSMUSP00000108656
Gene: ENSMUSG00000057110
| 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 |
probably benign
Transcript: ENSMUST00000113034
|
| SMART Domains |
Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
| 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 benign
Transcript: ENSMUST00000113037
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
| 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: I82K
|
| SMART Domains |
Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110
AA Change: I82K
| 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: I482K
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: I482K
| 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 benign
Transcript: ENSMUST00000150807
|
| SMART Domains |
Protein: ENSMUSP00000142683
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
140 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1786 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
C |
A |
7: 42,095,667 (GRCm39) |
G194C |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,135,248 (GRCm39) |
K258E |
probably damaging |
Het |
| Afdn |
A |
T |
17: 14,030,707 (GRCm39) |
D206V |
possibly damaging |
Het |
| Agt |
G |
T |
8: 125,284,572 (GRCm39) |
Q389K |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,801,432 (GRCm39) |
D298E |
probably damaging |
Het |
| Anks1 |
A |
G |
17: 28,271,709 (GRCm39) |
S897G |
probably benign |
Het |
| Apol9b |
A |
G |
15: 77,619,746 (GRCm39) |
|
probably null |
Het |
| Baz1a |
T |
C |
12: 54,965,339 (GRCm39) |
E705G |
probably benign |
Het |
| BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,246,210 (GRCm39) |
F749L |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,749,955 (GRCm39) |
F293S |
probably damaging |
Het |
| Dnah12 |
T |
G |
14: 26,439,129 (GRCm39) |
M527R |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,343,273 (GRCm39) |
R1539H |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,685,319 (GRCm39) |
Y603C |
probably damaging |
Het |
| Eea1 |
G |
A |
10: 95,877,335 (GRCm39) |
A1350T |
possibly damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,394,402 (GRCm39) |
K507N |
possibly damaging |
Het |
| Flt3l |
A |
T |
7: 44,783,091 (GRCm39) |
|
probably null |
Het |
| Fn1 |
T |
C |
1: 71,667,230 (GRCm39) |
Q834R |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hycc2 |
T |
A |
1: 58,569,034 (GRCm39) |
Y515F |
probably damaging |
Het |
| Ifih1 |
T |
C |
2: 62,469,827 (GRCm39) |
N157D |
possibly damaging |
Het |
| Itga2 |
A |
C |
13: 114,980,009 (GRCm39) |
M1064R |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,002,228 (GRCm39) |
|
probably null |
Het |
| Krtap10-4 |
T |
C |
10: 77,662,883 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,518,431 (GRCm39) |
C269R |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,355 (GRCm39) |
D125G |
probably damaging |
Het |
| Matn2 |
A |
C |
15: 34,423,901 (GRCm39) |
E586D |
probably benign |
Het |
| Mef2b |
T |
A |
8: 70,616,789 (GRCm39) |
|
probably null |
Het |
| Mrps22 |
A |
G |
9: 98,483,524 (GRCm39) |
|
probably null |
Het |
| Mtmr2 |
T |
C |
9: 13,711,325 (GRCm39) |
F445L |
probably damaging |
Het |
| Nxph4 |
A |
G |
10: 127,362,237 (GRCm39) |
V218A |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,408,001 (GRCm39) |
V8A |
probably benign |
Het |
| Or4f57 |
C |
T |
2: 111,791,091 (GRCm39) |
G109D |
probably damaging |
Het |
| Or51k1 |
A |
G |
7: 103,660,980 (GRCm39) |
S310P |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,325,896 (GRCm39) |
V100D |
probably damaging |
Het |
| Phldb2 |
A |
C |
16: 45,594,609 (GRCm39) |
S899A |
probably benign |
Het |
| Pnpla3 |
G |
A |
15: 84,056,983 (GRCm39) |
|
probably null |
Het |
| Rasal2 |
A |
G |
1: 157,126,757 (GRCm39) |
Y94H |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,006,019 (GRCm39) |
I987N |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,687,753 (GRCm39) |
Y300H |
probably damaging |
Het |
| Setbp1 |
G |
A |
18: 78,826,584 (GRCm39) |
S1343L |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,648,105 (GRCm39) |
K938E |
possibly damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,129 (GRCm39) |
V259A |
probably benign |
Het |
| Slc3a1 |
A |
C |
17: 85,335,860 (GRCm39) |
M1L |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,991,409 (GRCm39) |
V427I |
probably benign |
Het |
| Ssbp2 |
A |
T |
13: 91,839,027 (GRCm39) |
M300L |
probably benign |
Het |
| Ssc5d |
A |
G |
7: 4,940,521 (GRCm39) |
D878G |
probably damaging |
Het |
| Stk19 |
A |
G |
17: 35,043,574 (GRCm39) |
L212P |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,240,387 (GRCm39) |
M115V |
possibly damaging |
Het |
| Syt17 |
A |
C |
7: 118,033,466 (GRCm39) |
S181A |
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,875,849 (GRCm39) |
N5Y |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,680,421 (GRCm39) |
|
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,258,310 (GRCm39) |
M1K |
probably null |
Het |
| Tmem82 |
T |
A |
4: 141,343,721 (GRCm39) |
Q183L |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,203 (GRCm39) |
E142G |
probably damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,167 (GRCm39) |
H253Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,687,808 (GRCm39) |
|
probably benign |
Het |
| Ubd |
A |
G |
17: 37,506,392 (GRCm39) |
K93E |
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,415 (GRCm39) |
F222Y |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,151,328 (GRCm39) |
N95K |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,434,904 (GRCm39) |
V1775A |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,346,981 (GRCm39) |
K1787E |
possibly damaging |
Het |
| Zfp26 |
A |
T |
9: 20,348,582 (GRCm39) |
F661I |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,504 (GRCm39) |
K483* |
probably null |
Het |
| Zfp946 |
A |
G |
17: 22,673,519 (GRCm39) |
E91G |
probably damaging |
Het |
| Zic5 |
C |
A |
14: 122,697,161 (GRCm39) |
D485Y |
unknown |
Het |
| Zmynd8 |
A |
T |
2: 165,680,772 (GRCm39) |
D236E |
probably 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 |
|
R0755:Cntrl
|
UTSW |
2 |
35,035,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGGTGGAGTTCATTGCAAAG -3'
(R):5'- TTCTGAGGGTTGACACAGTAAC -3'
Sequencing Primer
(F):5'- TGGAGTTCATTGCAAAGAAAGAAAG -3'
(R):5'- CTGGAGCTTGTTCTATAGACCAGAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation