Incidental Mutation 'H8562:Carmil1'
| ID |
44380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carmil1
|
| Ensembl Gene |
ENSMUSG00000021338 |
| Gene Name |
capping protein regulator and myosin 1 linker 1 |
| Synonyms |
Carmil, Lrrc16a, 1110037D04Rik, Lrrc16 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
H8562 (G3)
of strain
604
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24248630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 485
(V485A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
[ENSMUST00000125901]
|
| AlphaFold |
Q6EDY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072889
AA Change: V895A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: V895A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
LRR
|
245 |
272 |
2.42e1 |
SMART |
|
LRR
|
275 |
302 |
1.04e1 |
SMART |
|
LRR
|
304 |
331 |
3.1e0 |
SMART |
|
LRR
|
336 |
363 |
5.66e1 |
SMART |
|
Blast:LRR
|
423 |
450 |
9e-8 |
BLAST |
|
Blast:LRR
|
451 |
484 |
7e-9 |
BLAST |
|
LRR
|
574 |
601 |
8.81e-2 |
SMART |
|
Blast:LRR
|
602 |
629 |
6e-10 |
BLAST |
|
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
|
Pfam:CARMIL_C
|
790 |
1083 |
1.1e-101 |
PFAM |
|
low complexity region
|
1131 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1317 |
1332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110398
AA Change: V891A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: V891A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
LRR
|
245 |
272 |
2.42e1 |
SMART |
|
LRR
|
275 |
302 |
1.04e1 |
SMART |
|
LRR
|
304 |
331 |
3.1e0 |
SMART |
|
LRR
|
336 |
363 |
5.66e1 |
SMART |
|
Blast:LRR
|
423 |
450 |
9e-8 |
BLAST |
|
LRR
|
451 |
480 |
3.15e1 |
SMART |
|
Pfam:LRR_6
|
481 |
507 |
1.9e-2 |
PFAM |
|
LRR
|
570 |
597 |
8.81e-2 |
SMART |
|
Blast:LRR
|
598 |
625 |
6e-10 |
BLAST |
|
low complexity region
|
741 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
888 |
N/A |
INTRINSIC |
|
PDB:3LK3|T
|
964 |
1076 |
1e-56 |
PDB |
|
low complexity region
|
1127 |
1143 |
N/A |
INTRINSIC |
|
low complexity region
|
1241 |
1247 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1264 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1313 |
1325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125901
AA Change: V485A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: V485A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRR
|
13 |
40 |
5e-8 |
BLAST |
|
Blast:LRR
|
41 |
74 |
4e-9 |
BLAST |
|
Pfam:LRR_6
|
75 |
101 |
4.4e-2 |
PFAM |
|
Pfam:LRR_6
|
164 |
187 |
1.6e-3 |
PFAM |
|
Blast:LRR
|
192 |
219 |
7e-10 |
BLAST |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
|
PDB:3LK3|T
|
564 |
676 |
4e-57 |
PDB |
|
low complexity region
|
727 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
925 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142171
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (109/114) |
| MGI Phenotype |
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,771,717 (GRCm39) |
C400R |
probably damaging |
Het |
| 4930519F16Rik |
A |
T |
X: 102,299,463 (GRCm39) |
|
noncoding transcript |
Het |
| 5430402E10Rik |
G |
T |
X: 76,966,340 (GRCm39) |
H117Q |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,974,077 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,933,835 (GRCm39) |
I1190T |
probably benign |
Het |
| Acmsd |
T |
C |
1: 127,676,795 (GRCm39) |
Y107H |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,087,551 (GRCm39) |
I471V |
probably damaging |
Het |
| Aff2 |
G |
A |
X: 68,892,532 (GRCm39) |
A939T |
unknown |
Het |
| Ampd2 |
C |
A |
3: 107,988,427 (GRCm39) |
A11S |
probably benign |
Het |
| Aoah |
T |
A |
13: 21,000,694 (GRCm39) |
C43S |
probably damaging |
Het |
| Apobec4 |
T |
C |
1: 152,632,925 (GRCm39) |
S318P |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,267,427 (GRCm39) |
P636S |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,178,543 (GRCm39) |
C164* |
probably null |
Het |
| Avl9 |
G |
A |
6: 56,734,295 (GRCm39) |
A625T |
probably damaging |
Het |
| Bco1 |
G |
T |
8: 117,832,386 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
C |
T |
2: 27,340,545 (GRCm39) |
G555S |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,448,377 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,754,561 (GRCm39) |
V735A |
probably benign |
Het |
| C2cd2 |
G |
T |
16: 97,680,840 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Casz1 |
T |
C |
4: 149,017,908 (GRCm39) |
L113P |
probably damaging |
Het |
| Ccdc3 |
T |
C |
2: 5,143,016 (GRCm39) |
L91S |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,926 (GRCm39) |
K324R |
probably benign |
Het |
| Cd200r4 |
A |
G |
16: 44,653,736 (GRCm39) |
T132A |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,416 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,298,106 (GRCm39) |
N217I |
probably damaging |
Het |
| Dapk1 |
C |
A |
13: 60,909,126 (GRCm39) |
H1246Q |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,713,805 (GRCm39) |
C1450* |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,906,593 (GRCm39) |
M4151K |
probably damaging |
Het |
| Dnai1 |
C |
A |
4: 41,629,833 (GRCm39) |
F452L |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,583,241 (GRCm39) |
M446T |
probably benign |
Het |
| Dytn |
A |
C |
1: 63,714,071 (GRCm39) |
S143A |
possibly damaging |
Het |
| E130308A19Rik |
T |
A |
4: 59,691,033 (GRCm39) |
L289Q |
possibly damaging |
Het |
| Efemp2 |
G |
T |
19: 5,530,677 (GRCm39) |
V250L |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,465,033 (GRCm39) |
S201P |
probably damaging |
Het |
| Fam222b |
T |
A |
11: 78,045,404 (GRCm39) |
C194S |
probably damaging |
Het |
| Fam91a1 |
G |
A |
15: 58,298,970 (GRCm39) |
|
probably null |
Het |
| Fcf1 |
T |
A |
12: 85,027,386 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,371,123 (GRCm39) |
F134L |
probably damaging |
Het |
| Fyn |
T |
C |
10: 39,387,950 (GRCm39) |
S69P |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,382,841 (GRCm39) |
Y845H |
probably damaging |
Het |
| Gfra2 |
C |
T |
14: 71,215,818 (GRCm39) |
T169M |
possibly damaging |
Het |
| Gm5435 |
T |
C |
12: 82,542,449 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7251 |
A |
G |
13: 49,959,148 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gvin3 |
A |
G |
7: 106,202,356 (GRCm39) |
F296S |
probably damaging |
Het |
| H2bc15 |
T |
C |
13: 21,938,648 (GRCm39) |
V119A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,423,594 (GRCm39) |
N530K |
probably benign |
Het |
| Icam5 |
A |
T |
9: 20,946,442 (GRCm39) |
E355V |
probably benign |
Het |
| Ighv3-6 |
A |
G |
12: 114,252,158 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
C |
3: 40,647,103 (GRCm39) |
S659P |
probably damaging |
Het |
| Ivns1abp |
T |
C |
1: 151,230,446 (GRCm39) |
V198A |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,822,138 (GRCm39) |
|
probably benign |
Het |
| Kcna5 |
T |
C |
6: 126,510,386 (GRCm39) |
S581G |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,347 (GRCm39) |
V741A |
probably benign |
Het |
| Lbr |
A |
T |
1: 181,648,233 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
C |
18: 77,429,627 (GRCm39) |
T508P |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,557,561 (GRCm39) |
N26K |
probably benign |
Het |
| Ly96 |
A |
T |
1: 16,761,918 (GRCm39) |
K41N |
probably damaging |
Het |
| Lypd1 |
C |
T |
1: 125,838,274 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,359,833 (GRCm39) |
V1817A |
probably benign |
Het |
| Mknk2 |
A |
G |
10: 80,504,768 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,631,470 (GRCm39) |
I117L |
probably benign |
Het |
| Mmrn1 |
G |
A |
6: 60,935,164 (GRCm39) |
G220D |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,712,496 (GRCm39) |
H630R |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,066,014 (GRCm39) |
|
probably benign |
Het |
| Ngef |
C |
A |
1: 87,415,529 (GRCm39) |
K288N |
possibly damaging |
Het |
| Nkain4 |
T |
C |
2: 180,584,938 (GRCm39) |
E71G |
probably benign |
Het |
| Odc1 |
T |
C |
12: 17,598,038 (GRCm39) |
Y122H |
probably benign |
Het |
| Or1e25 |
T |
C |
11: 73,494,273 (GRCm39) |
I289T |
probably damaging |
Het |
| Or2d2 |
C |
A |
7: 106,728,448 (GRCm39) |
A51S |
probably benign |
Het |
| Or8g51 |
C |
A |
9: 38,609,206 (GRCm39) |
G156V |
probably damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,324,446 (GRCm39) |
N190K |
probably benign |
Het |
| Osgepl1 |
T |
C |
1: 53,354,198 (GRCm39) |
V54A |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,746,817 (GRCm39) |
Y19C |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,530,358 (GRCm39) |
S919P |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,341,920 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
A |
G |
13: 27,746,584 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,951,072 (GRCm39) |
V1907D |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,231,264 (GRCm39) |
T547A |
possibly damaging |
Het |
| Rdh14 |
G |
T |
12: 10,444,709 (GRCm39) |
V187F |
probably damaging |
Het |
| Rev1 |
A |
G |
1: 38,095,848 (GRCm39) |
L853P |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,317,106 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,732,027 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,517 (GRCm39) |
P166L |
probably benign |
Het |
| Slc6a19 |
G |
A |
13: 73,848,243 (GRCm39) |
|
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,770,210 (GRCm39) |
T285S |
probably benign |
Het |
| Speg |
G |
T |
1: 75,392,241 (GRCm39) |
A1633S |
probably benign |
Het |
| Srpk1 |
T |
A |
17: 28,821,707 (GRCm39) |
T236S |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,645,187 (GRCm39) |
N262S |
probably benign |
Het |
| Suco |
T |
C |
1: 161,680,420 (GRCm39) |
E317G |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,794,657 (GRCm39) |
N441D |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,007,292 (GRCm39) |
K334R |
probably benign |
Het |
| Sytl5 |
A |
T |
X: 9,826,335 (GRCm39) |
H436L |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,627,000 (GRCm39) |
S983R |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,753,972 (GRCm39) |
L333P |
probably damaging |
Het |
| Thap12 |
T |
C |
7: 98,364,314 (GRCm39) |
Y161H |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,891,715 (GRCm39) |
V941I |
probably benign |
Het |
| Tktl1 |
A |
T |
X: 73,225,470 (GRCm39) |
E72V |
probably damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,396,338 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
A |
16: 90,566,357 (GRCm39) |
M1477L |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,982,596 (GRCm39) |
I699F |
probably damaging |
Het |
| Vmn1r232 |
T |
C |
17: 21,133,656 (GRCm39) |
T315A |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,752 (GRCm39) |
W155R |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,292,861 (GRCm39) |
I301T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,373,701 (GRCm39) |
V55A |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,801 (GRCm39) |
T2681A |
probably benign |
Het |
| Zfp39 |
C |
A |
11: 58,791,512 (GRCm39) |
L58F |
probably damaging |
Het |
| Zfp612 |
T |
C |
8: 110,816,670 (GRCm39) |
F587L |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,387 (GRCm39) |
R174G |
probably benign |
Het |
| Zfta |
A |
G |
19: 7,400,286 (GRCm39) |
K251E |
probably benign |
Het |
|
| Other mutations in Carmil1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Carmil1
|
APN |
13 |
24,295,821 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL00392:Carmil1
|
APN |
13 |
24,278,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Carmil1
|
APN |
13 |
24,295,869 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01375:Carmil1
|
APN |
13 |
24,278,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02043:Carmil1
|
APN |
13 |
24,208,299 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02122:Carmil1
|
APN |
13 |
24,220,541 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02178:Carmil1
|
APN |
13 |
24,278,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Carmil1
|
APN |
13 |
24,259,699 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02269:Carmil1
|
APN |
13 |
24,339,393 (GRCm39) |
nonsense |
probably null |
|
|
IGL02546:Carmil1
|
APN |
13 |
24,299,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02740:Carmil1
|
APN |
13 |
24,278,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02876:Carmil1
|
APN |
13 |
24,338,651 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02976:Carmil1
|
APN |
13 |
24,276,534 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03012:Carmil1
|
APN |
13 |
24,220,355 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03107:Carmil1
|
APN |
13 |
24,278,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0085:Carmil1
|
UTSW |
13 |
24,209,850 (GRCm39) |
missense |
probably benign |
|
|
R0119:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0166:Carmil1
|
UTSW |
13 |
24,283,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0299:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0304:Carmil1
|
UTSW |
13 |
24,323,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0335:Carmil1
|
UTSW |
13 |
24,257,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Carmil1
|
UTSW |
13 |
24,206,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1203:Carmil1
|
UTSW |
13 |
24,282,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Carmil1
|
UTSW |
13 |
24,283,037 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1730:Carmil1
|
UTSW |
13 |
24,225,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Carmil1
|
UTSW |
13 |
24,357,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Carmil1
|
UTSW |
13 |
24,348,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1893:Carmil1
|
UTSW |
13 |
24,208,446 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2099:Carmil1
|
UTSW |
13 |
24,357,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2153:Carmil1
|
UTSW |
13 |
24,325,656 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2296:Carmil1
|
UTSW |
13 |
24,299,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Carmil1
|
UTSW |
13 |
24,229,051 (GRCm39) |
synonymous |
silent |
|
|
R2872:Carmil1
|
UTSW |
13 |
24,229,051 (GRCm39) |
synonymous |
silent |
|
|
R3113:Carmil1
|
UTSW |
13 |
24,253,740 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3508:Carmil1
|
UTSW |
13 |
24,203,659 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3780:Carmil1
|
UTSW |
13 |
24,321,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3954:Carmil1
|
UTSW |
13 |
24,197,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4027:Carmil1
|
UTSW |
13 |
24,251,206 (GRCm39) |
splice site |
probably benign |
|
|
R4086:Carmil1
|
UTSW |
13 |
24,208,444 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4647:Carmil1
|
UTSW |
13 |
24,321,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Carmil1
|
UTSW |
13 |
24,325,659 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4792:Carmil1
|
UTSW |
13 |
24,251,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5012:Carmil1
|
UTSW |
13 |
24,208,403 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5166:Carmil1
|
UTSW |
13 |
24,338,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5199:Carmil1
|
UTSW |
13 |
24,295,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Carmil1
|
UTSW |
13 |
24,209,929 (GRCm39) |
splice site |
probably null |
|
|
R5472:Carmil1
|
UTSW |
13 |
24,339,454 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5478:Carmil1
|
UTSW |
13 |
24,296,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Carmil1
|
UTSW |
13 |
24,339,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Carmil1
|
UTSW |
13 |
24,460,520 (GRCm39) |
missense |
probably benign |
|
|
R5789:Carmil1
|
UTSW |
13 |
24,305,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5794:Carmil1
|
UTSW |
13 |
24,276,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Carmil1
|
UTSW |
13 |
24,253,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Carmil1
|
UTSW |
13 |
24,220,335 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6128:Carmil1
|
UTSW |
13 |
24,197,177 (GRCm39) |
nonsense |
probably null |
|
|
R6403:Carmil1
|
UTSW |
13 |
24,265,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Carmil1
|
UTSW |
13 |
24,220,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6451:Carmil1
|
UTSW |
13 |
24,276,541 (GRCm39) |
nonsense |
probably null |
|
|
R6684:Carmil1
|
UTSW |
13 |
24,206,525 (GRCm39) |
missense |
unknown |
|
|
R6891:Carmil1
|
UTSW |
13 |
24,325,706 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6902:Carmil1
|
UTSW |
13 |
24,299,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6924:Carmil1
|
UTSW |
13 |
24,259,667 (GRCm39) |
nonsense |
probably null |
|
|
R6946:Carmil1
|
UTSW |
13 |
24,299,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7038:Carmil1
|
UTSW |
13 |
24,323,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Carmil1
|
UTSW |
13 |
24,204,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Carmil1
|
UTSW |
13 |
24,197,387 (GRCm39) |
missense |
probably benign |
|
|
R7286:Carmil1
|
UTSW |
13 |
24,197,377 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7397:Carmil1
|
UTSW |
13 |
24,228,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7412:Carmil1
|
UTSW |
13 |
24,282,793 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7611:Carmil1
|
UTSW |
13 |
24,197,315 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7642:Carmil1
|
UTSW |
13 |
24,251,189 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7827:Carmil1
|
UTSW |
13 |
24,220,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7890:Carmil1
|
UTSW |
13 |
24,197,215 (GRCm39) |
missense |
|
|
|
R8014:Carmil1
|
UTSW |
13 |
24,220,304 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8068:Carmil1
|
UTSW |
13 |
24,259,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8214:Carmil1
|
UTSW |
13 |
24,228,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8247:Carmil1
|
UTSW |
13 |
24,282,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Carmil1
|
UTSW |
13 |
24,220,562 (GRCm39) |
missense |
probably benign |
|
|
R8318:Carmil1
|
UTSW |
13 |
24,220,442 (GRCm39) |
missense |
probably benign |
|
|
R8361:Carmil1
|
UTSW |
13 |
24,251,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8469:Carmil1
|
UTSW |
13 |
24,296,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Carmil1
|
UTSW |
13 |
24,209,863 (GRCm39) |
missense |
probably benign |
|
|
R8698:Carmil1
|
UTSW |
13 |
24,220,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Carmil1
|
UTSW |
13 |
24,220,568 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8836:Carmil1
|
UTSW |
13 |
24,339,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Carmil1
|
UTSW |
13 |
24,325,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8931:Carmil1
|
UTSW |
13 |
24,338,704 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8932:Carmil1
|
UTSW |
13 |
24,197,179 (GRCm39) |
missense |
|
|
|
R9004:Carmil1
|
UTSW |
13 |
24,225,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9041:Carmil1
|
UTSW |
13 |
24,282,793 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9103:Carmil1
|
UTSW |
13 |
24,295,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9224:Carmil1
|
UTSW |
13 |
24,292,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9428:Carmil1
|
UTSW |
13 |
24,295,834 (GRCm39) |
nonsense |
probably null |
|
|
R9460:Carmil1
|
UTSW |
13 |
24,253,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Carmil1
|
UTSW |
13 |
24,323,357 (GRCm39) |
missense |
probably benign |
|
|
R9548:Carmil1
|
UTSW |
13 |
24,460,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Carmil1
|
UTSW |
13 |
24,283,026 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1088:Carmil1
|
UTSW |
13 |
24,228,165 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGAAGCTGCTTCCTGCTTGTG -3'
(R):5'- TGCCAAAGCCATTTTGCCAGTCC -3'
Sequencing Primer
(F):5'- CTTGTGGTCCCTGAAGGCTC -3'
(R):5'- CAGTCCTGATAGCAGCACTTATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation