Incidental Mutation 'R7038:Carmil1'
| ID |
546880 |
| 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 |
045138-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24323318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 245
(S245P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
|
| AlphaFold |
Q6EDY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072889
AA Change: S245P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: S245P
| 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: S245P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: S245P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (101/102) |
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,468,979 (GRCm39) |
S748P |
possibly damaging |
Het |
| Alppl2 |
T |
C |
1: 87,016,833 (GRCm39) |
D104G |
probably damaging |
Het |
| Als2 |
C |
A |
1: 59,206,673 (GRCm39) |
W1590L |
possibly damaging |
Het |
| Aopep |
G |
T |
13: 63,338,339 (GRCm39) |
V571F |
possibly damaging |
Het |
| Aplf |
C |
T |
6: 87,630,805 (GRCm39) |
W210* |
probably null |
Het |
| Ash1l |
A |
T |
3: 88,889,978 (GRCm39) |
H619L |
probably benign |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Bpifb1 |
G |
T |
2: 154,044,589 (GRCm39) |
V19F |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 6,064,349 (GRCm39) |
L50Q |
probably benign |
Het |
| Cavin4 |
A |
G |
4: 48,672,479 (GRCm39) |
H308R |
probably benign |
Het |
| Cd4 |
C |
T |
6: 124,847,217 (GRCm39) |
V316M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,662 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cep295nl |
A |
G |
11: 118,223,815 (GRCm39) |
I343T |
probably benign |
Het |
| Cgn |
T |
G |
3: 94,670,392 (GRCm39) |
T1021P |
possibly damaging |
Het |
| Cilk1 |
C |
T |
9: 78,016,484 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,822,937 (GRCm39) |
V140A |
unknown |
Het |
| Cops8 |
T |
C |
1: 90,531,320 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
A |
G |
13: 95,580,699 (GRCm39) |
Y54H |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,275,571 (GRCm39) |
V4I |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,708 (GRCm39) |
Y220F |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 25,077,391 (GRCm39) |
D1008G |
probably damaging |
Het |
| Ddx47 |
T |
A |
6: 135,000,336 (GRCm39) |
V444E |
possibly damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,070,181 (GRCm39) |
C465* |
probably null |
Het |
| Dst |
C |
A |
1: 34,221,879 (GRCm39) |
S2561* |
probably null |
Het |
| Dstyk |
T |
C |
1: 132,381,847 (GRCm39) |
S534P |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,232,943 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
C |
T |
12: 28,801,817 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
A |
1: 63,771,032 (GRCm39) |
D129E |
possibly damaging |
Het |
| Fndc3b |
C |
T |
3: 27,555,618 (GRCm39) |
G312D |
probably benign |
Het |
| Gab2 |
T |
A |
7: 96,952,290 (GRCm39) |
I562N |
probably damaging |
Het |
| Gata5 |
C |
A |
2: 179,975,685 (GRCm39) |
D160Y |
possibly damaging |
Het |
| Gcn1 |
G |
A |
5: 115,749,203 (GRCm39) |
V1912I |
probably damaging |
Het |
| Gdf5 |
C |
A |
2: 155,786,655 (GRCm39) |
Q107H |
probably damaging |
Het |
| Gdpd1 |
A |
G |
11: 86,926,118 (GRCm39) |
Y276H |
probably damaging |
Het |
| Gins1 |
A |
G |
2: 150,759,791 (GRCm39) |
Y81C |
probably damaging |
Het |
| Gm28360 |
T |
C |
1: 117,781,329 (GRCm39) |
C107R |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,324,998 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
A |
T |
9: 58,730,867 (GRCm39) |
I25F |
unknown |
Het |
| Hectd4 |
A |
G |
5: 121,437,660 (GRCm39) |
Y1095C |
possibly damaging |
Het |
| Hsp90b1 |
A |
T |
10: 86,531,730 (GRCm39) |
L73Q |
probably damaging |
Het |
| Hspa12a |
A |
G |
19: 58,793,132 (GRCm39) |
V351A |
probably damaging |
Het |
| Htr1b |
T |
A |
9: 81,514,296 (GRCm39) |
M104L |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,917,212 (GRCm39) |
T1563A |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Liph |
A |
T |
16: 21,795,009 (GRCm39) |
V201E |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,221,759 (GRCm39) |
D196G |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,470,591 (GRCm39) |
D589N |
possibly damaging |
Het |
| Mknk1 |
A |
G |
4: 115,714,307 (GRCm39) |
D26G |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,223,062 (GRCm39) |
E435G |
possibly damaging |
Het |
| Mrps5 |
A |
G |
2: 127,442,786 (GRCm39) |
E285G |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,087,675 (GRCm39) |
F85L |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,531,764 (GRCm39) |
M6197L |
probably damaging |
Het |
| Myo3b |
A |
T |
2: 69,925,552 (GRCm39) |
E34D |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,131,279 (GRCm39) |
S215P |
probably damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,368,679 (GRCm39) |
|
probably benign |
Het |
| Ntan1 |
T |
C |
16: 13,644,774 (GRCm39) |
S37P |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,067,254 (GRCm39) |
Y765N |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,715 (GRCm39) |
D3V |
probably benign |
Het |
| Or2aa1 |
T |
C |
11: 59,480,408 (GRCm39) |
Y169C |
possibly damaging |
Het |
| Or4s2b |
A |
T |
2: 88,509,085 (GRCm39) |
R288S |
probably damaging |
Het |
| Or7g30 |
A |
C |
9: 19,352,888 (GRCm39) |
L226F |
possibly damaging |
Het |
| Pald1 |
T |
C |
10: 61,175,078 (GRCm39) |
H724R |
probably benign |
Het |
| Pcdhb7 |
A |
T |
18: 37,475,257 (GRCm39) |
D131V |
possibly damaging |
Het |
| Pds5b |
G |
T |
5: 150,724,225 (GRCm39) |
R1269S |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,273,520 (GRCm39) |
V645A |
probably damaging |
Het |
| Plag1 |
G |
T |
4: 3,904,676 (GRCm39) |
H172N |
probably damaging |
Het |
| Plch2 |
G |
C |
4: 155,074,489 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
T |
A |
9: 108,929,453 (GRCm39) |
V103E |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,386,984 (GRCm39) |
M1143K |
probably benign |
Het |
| Ptpn18 |
T |
A |
1: 34,498,906 (GRCm39) |
M1K |
probably null |
Het |
| Rasgrf2 |
G |
A |
13: 92,130,952 (GRCm39) |
T703I |
possibly damaging |
Het |
| Rassf6 |
A |
T |
5: 90,757,584 (GRCm39) |
H125Q |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,446,049 (GRCm39) |
|
probably null |
Het |
| Sf3a3 |
T |
A |
4: 124,622,219 (GRCm39) |
F426L |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,892,576 (GRCm39) |
F6L |
possibly damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,202,252 (GRCm39) |
I626N |
probably damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,436,083 (GRCm39) |
N165S |
probably benign |
Het |
| Slc41a1 |
C |
A |
1: 131,769,795 (GRCm39) |
A305D |
possibly damaging |
Het |
| Smyd4 |
C |
A |
11: 75,281,340 (GRCm39) |
P271Q |
probably damaging |
Het |
| Spag17 |
C |
A |
3: 99,891,925 (GRCm39) |
H260N |
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,327,283 (GRCm39) |
V38E |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Syt14 |
T |
A |
1: 192,665,966 (GRCm39) |
|
probably benign |
Het |
| Tbx21 |
A |
G |
11: 96,990,597 (GRCm39) |
S329P |
probably damaging |
Het |
| Tex2 |
A |
T |
11: 106,402,726 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
A |
G |
2: 120,824,058 (GRCm39) |
I244M |
possibly damaging |
Het |
| Tnks |
A |
T |
8: 35,318,790 (GRCm39) |
N830K |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,156,264 (GRCm39) |
E145G |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,723,342 (GRCm39) |
D7G |
probably damaging |
Het |
| Ttc28 |
T |
A |
5: 111,414,445 (GRCm39) |
M1320K |
probably benign |
Het |
| Tubgcp5 |
T |
G |
7: 55,455,114 (GRCm39) |
V270G |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,152,297 (GRCm39) |
R62G |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,205,749 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,558,082 (GRCm39) |
H1459R |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,263 (GRCm39) |
L64Q |
possibly damaging |
Het |
| Wdr55 |
T |
G |
18: 36,893,473 (GRCm39) |
L45R |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,357 (GRCm39) |
Y306H |
probably damaging |
Het |
| Zfp398 |
G |
T |
6: 47,843,243 (GRCm39) |
D300Y |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,982 (GRCm39) |
V377A |
probably damaging |
Het |
| Zfp457 |
G |
A |
13: 67,441,997 (GRCm39) |
H97Y |
probably benign |
Het |
| Zfp467 |
T |
C |
6: 48,415,072 (GRCm39) |
T527A |
probably damaging |
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 |
|
|
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 |
|
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'- TGCCAGAATCCATGATCCAC -3'
(R):5'- GGAGCTACATAGTGGGGATGTC -3'
Sequencing Primer
(F):5'- ATGCTAAGTCTGAACTAACCCTTC -3'
(R):5'- AGCTACATAGTGGGGATGTCTTCTAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation