Incidental Mutation 'R0119:Carmil1'
| ID |
20998 |
| 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 |
| MMRRC Submission |
038405-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24266003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 253
(N253I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
[ENSMUST00000125901]
|
| AlphaFold |
Q6EDY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072889
AA Change: N663I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: N663I
| 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 damaging
Transcript: ENSMUST00000110398
AA Change: N659I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: N659I
| 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 damaging
Transcript: ENSMUST00000125901
AA Change: N253I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: N253I
| 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 |
0.0762 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
| Abca13 |
G |
A |
11: 9,248,076 (GRCm39) |
E2608K |
probably benign |
Het |
| Acad9 |
T |
C |
3: 36,139,564 (GRCm39) |
V388A |
probably damaging |
Het |
| Acp3 |
T |
C |
9: 104,197,201 (GRCm39) |
E146G |
probably damaging |
Het |
| Adamts18 |
A |
G |
8: 114,501,585 (GRCm39) |
I346T |
possibly damaging |
Het |
| Adcy8 |
T |
A |
15: 64,588,015 (GRCm39) |
D894V |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,559,449 (GRCm39) |
|
probably benign |
Het |
| Arg2 |
A |
G |
12: 79,194,386 (GRCm39) |
D70G |
probably damaging |
Het |
| Cap1 |
A |
T |
4: 122,761,492 (GRCm39) |
L130Q |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,693,253 (GRCm39) |
|
probably benign |
Het |
| Cd69 |
C |
T |
6: 129,247,025 (GRCm39) |
S64N |
probably benign |
Het |
| Cd96 |
T |
C |
16: 45,858,942 (GRCm39) |
|
probably benign |
Het |
| Celf6 |
C |
A |
9: 59,510,161 (GRCm39) |
T86K |
probably benign |
Het |
| Ces1c |
A |
T |
8: 93,833,345 (GRCm39) |
|
probably benign |
Het |
| Ces1c |
A |
T |
8: 93,834,238 (GRCm39) |
L351M |
probably benign |
Het |
| Cnih3 |
T |
A |
1: 181,282,309 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,262,950 (GRCm39) |
D534V |
probably damaging |
Het |
| Cry1 |
A |
G |
10: 84,969,104 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,710,527 (GRCm39) |
T1687A |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Defb13 |
T |
C |
8: 22,436,877 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,934,483 (GRCm39) |
F1489L |
possibly damaging |
Het |
| Elmo3 |
T |
C |
8: 106,036,400 (GRCm39) |
L668S |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,767,466 (GRCm39) |
I716T |
probably benign |
Het |
| Fshr |
C |
G |
17: 89,316,713 (GRCm39) |
S169T |
probably benign |
Het |
| Gm6327 |
T |
C |
16: 12,579,061 (GRCm39) |
|
noncoding transcript |
Het |
| Gm839 |
A |
T |
6: 89,189,362 (GRCm39) |
|
noncoding transcript |
Het |
| Gng5 |
T |
A |
3: 146,209,048 (GRCm39) |
C39S |
probably damaging |
Het |
| Gpr55 |
C |
T |
1: 85,869,146 (GRCm39) |
W145* |
probably null |
Het |
| Hdlbp |
A |
C |
1: 93,349,059 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
G |
T |
7: 80,017,153 (GRCm39) |
N305K |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mier3 |
T |
C |
13: 111,851,572 (GRCm39) |
V490A |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,210,768 (GRCm39) |
T1693A |
probably benign |
Het |
| Mss51 |
T |
A |
14: 20,534,756 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,013,022 (GRCm39) |
H311Q |
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,893,881 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Obox3 |
T |
A |
7: 15,360,252 (GRCm39) |
|
probably null |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or1e34 |
C |
T |
11: 73,778,656 (GRCm39) |
V181I |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,006,407 (GRCm39) |
F95S |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,688,791 (GRCm39) |
V820A |
probably benign |
Het |
| Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,201,924 (GRCm39) |
V496E |
probably benign |
Het |
| Per3 |
A |
G |
4: 151,109,005 (GRCm39) |
|
probably benign |
Het |
| Pip4k2b |
A |
T |
11: 97,613,762 (GRCm39) |
|
probably benign |
Het |
| Podn |
G |
T |
4: 107,878,791 (GRCm39) |
L359I |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,828,426 (GRCm39) |
D547E |
probably benign |
Het |
| Rere |
T |
G |
4: 150,699,779 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,732,016 (GRCm39) |
L281Q |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,967,729 (GRCm39) |
N222S |
probably benign |
Het |
| Sh3bgrl2 |
A |
G |
9: 83,459,612 (GRCm39) |
K57E |
probably damaging |
Het |
| Sh3bgrl3 |
A |
T |
4: 133,855,347 (GRCm39) |
I33N |
probably damaging |
Het |
| Sik3 |
T |
C |
9: 46,120,038 (GRCm39) |
M659T |
possibly damaging |
Het |
| Sppl3 |
T |
A |
5: 115,227,053 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
C |
A |
7: 130,223,605 (GRCm39) |
Q116K |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,263,359 (GRCm39) |
D1409G |
probably damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,568,921 (GRCm39) |
V477A |
possibly damaging |
Het |
| Trim7 |
G |
T |
11: 48,740,539 (GRCm39) |
R212L |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,809,957 (GRCm39) |
C1118S |
probably benign |
Het |
| Ugcg |
G |
C |
4: 59,217,036 (GRCm39) |
V187L |
possibly damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,704 (GRCm39) |
F100S |
possibly damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,275,723 (GRCm39) |
E361G |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,712,677 (GRCm39) |
V199A |
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 |
|
H8562:Carmil1
|
UTSW |
13 |
24,248,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0085:Carmil1
|
UTSW |
13 |
24,209,850 (GRCm39) |
missense |
probably benign |
|
|
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'- AAGCCAATTCCTCCTGGAGCTGTG -3'
(R):5'- TACCCTGAGCCAGTAGCATCTGTC -3'
Sequencing Primer
(F):5'- CTGGAGCTGTGCTCTGC -3'
(R):5'- acaaacacacacacacacac -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation