Incidental Mutation 'R6338:Carmil3'
| ID |
514352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carmil3
|
| Ensembl Gene |
ENSMUSG00000022211 |
| Gene Name |
capping protein regulator and myosin 1 linker 3 |
| Synonyms |
Lrrc16b |
| MMRRC Submission |
044492-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.342)
|
| Stock # |
R6338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55490651-55508272 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55499849 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 763
(V763A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076236]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
| AlphaFold |
Q3UFQ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076236
AA Change: V763A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: V763A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
138 |
151 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
203 |
297 |
7.56e-6 |
PROSPERO |
|
Blast:LRR
|
333 |
362 |
5e-10 |
BLAST |
|
Blast:LRR
|
423 |
446 |
1e-5 |
BLAST |
|
low complexity region
|
447 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
496 |
593 |
7.56e-6 |
PROSPERO |
|
Pfam:CARMIL_C
|
778 |
1065 |
5.3e-76 |
PFAM |
|
low complexity region
|
1068 |
1117 |
N/A |
INTRINSIC |
|
low complexity region
|
1137 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1204 |
1216 |
N/A |
INTRINSIC |
|
low complexity region
|
1318 |
1329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
| Meta Mutation Damage Score |
0.0703 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
T |
C |
7: 98,257,715 (GRCm38) |
Y128C |
probably damaging |
Het |
| Adam30 |
T |
G |
3: 98,161,541 (GRCm38) |
I102S |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,920,617 (GRCm38) |
D163E |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,170,585 (GRCm38) |
E1614K |
probably benign |
Het |
| Aldh16a1 |
A |
T |
7: 45,141,961 (GRCm38) |
W107R |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,845,570 (GRCm38) |
D238G |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,833,725 (GRCm38) |
S738G |
probably benign |
Het |
| Arid5b |
C |
A |
10: 68,098,561 (GRCm38) |
G504* |
probably null |
Het |
| Cd209e |
T |
A |
8: 3,849,154 (GRCm38) |
D186V |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,413,151 (GRCm38) |
D882G |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,890,812 (GRCm38) |
V689A |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,726,139 (GRCm38) |
V174E |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,956,633 (GRCm38) |
T390M |
unknown |
Het |
| Crybg1 |
T |
C |
10: 43,992,509 (GRCm38) |
D1017G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,932,492 (GRCm38) |
K2725T |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,198,122 (GRCm38) |
E55G |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,953,499 (GRCm38) |
V476A |
probably damaging |
Het |
| Fem1b |
A |
T |
9: 62,797,011 (GRCm38) |
D322E |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,274,489 (GRCm38) |
V466I |
probably benign |
Het |
| Gm11639 |
C |
T |
11: 104,843,208 (GRCm38) |
R2027* |
probably null |
Het |
| Gm20671 |
A |
T |
5: 32,820,647 (GRCm38) |
D1794E |
probably damaging |
Het |
| Gpatch2 |
G |
T |
1: 187,225,514 (GRCm38) |
R22L |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,816,456 (GRCm38) |
T450A |
probably benign |
Het |
| Kcnc2 |
G |
C |
10: 112,271,856 (GRCm38) |
G51R |
probably benign |
Het |
| Krit1 |
T |
G |
5: 3,836,857 (GRCm38) |
M702R |
probably benign |
Het |
| Krt34 |
T |
C |
11: 100,038,490 (GRCm38) |
N298S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,547,316 (GRCm38) |
N376K |
possibly damaging |
Het |
| Myo15 |
A |
G |
11: 60,478,133 (GRCm38) |
E573G |
probably damaging |
Het |
| Olfr1224-ps1 |
T |
A |
2: 89,156,371 (GRCm38) |
K268I |
probably damaging |
Het |
| Olfr1390 |
A |
G |
11: 49,340,867 (GRCm38) |
S112G |
probably benign |
Het |
| Olfr366 |
A |
T |
2: 37,219,822 (GRCm38) |
D111V |
probably damaging |
Het |
| Olfr391-ps |
A |
T |
11: 73,799,319 (GRCm38) |
L146Q |
possibly damaging |
Het |
| Olfr661 |
T |
A |
7: 104,688,171 (GRCm38) |
V52E |
possibly damaging |
Het |
| Olfr736 |
T |
A |
14: 50,393,400 (GRCm38) |
F215I |
possibly damaging |
Het |
| Phf20 |
A |
T |
2: 156,273,686 (GRCm38) |
Q309L |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 119,074,991 (GRCm38) |
R292C |
probably damaging |
Het |
| Pold3 |
A |
G |
7: 100,088,105 (GRCm38) |
V342A |
possibly damaging |
Het |
| Polr2a |
A |
T |
11: 69,739,679 (GRCm38) |
|
probably null |
Het |
| Ptprcap |
A |
G |
19: 4,156,224 (GRCm38) |
E102G |
probably benign |
Het |
| Rab11fip5 |
T |
C |
6: 85,341,378 (GRCm38) |
E843G |
possibly damaging |
Het |
| Rai14 |
T |
C |
15: 10,574,976 (GRCm38) |
D632G |
probably damaging |
Het |
| Rnf149 |
A |
T |
1: 39,560,742 (GRCm38) |
C268S |
probably null |
Het |
| Slc6a13 |
T |
A |
6: 121,334,839 (GRCm38) |
F392I |
probably damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,384,043 (GRCm38) |
|
probably null |
Het |
| Slf1 |
T |
A |
13: 77,084,462 (GRCm38) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,697,485 (GRCm38) |
V1408I |
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,264,246 (GRCm38) |
I183T |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,255,475 (GRCm38) |
E3497G |
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,729,376 (GRCm38) |
R121* |
probably null |
Het |
| Tdpoz2 |
C |
T |
3: 93,652,336 (GRCm38) |
V110I |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,490,714 (GRCm38) |
T788A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,734,447 (GRCm38) |
I1255F |
probably damaging |
Het |
| Usp44 |
G |
T |
10: 93,846,513 (GRCm38) |
R275I |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,215,034 (GRCm38) |
N1015D |
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,299,045 (GRCm38) |
W13C |
possibly damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,758,590 (GRCm38) |
D170E |
possibly damaging |
Het |
|
| Other mutations in Carmil3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Carmil3
|
APN |
14 |
55,498,298 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00498:Carmil3
|
APN |
14 |
55,501,895 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01061:Carmil3
|
APN |
14 |
55,498,630 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01452:Carmil3
|
APN |
14 |
55,496,058 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01606:Carmil3
|
APN |
14 |
55,493,849 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL01633:Carmil3
|
APN |
14 |
55,494,227 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL01977:Carmil3
|
APN |
14 |
55,493,536 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02065:Carmil3
|
APN |
14 |
55,493,822 (GRCm38) |
splice site |
probably benign |
|
|
IGL02160:Carmil3
|
APN |
14 |
55,493,558 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL02491:Carmil3
|
APN |
14 |
55,504,517 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02567:Carmil3
|
APN |
14 |
55,498,882 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02629:Carmil3
|
APN |
14 |
55,499,068 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02720:Carmil3
|
APN |
14 |
55,507,410 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03100:Carmil3
|
APN |
14 |
55,494,718 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4434001:Carmil3
|
UTSW |
14 |
55,494,688 (GRCm38) |
missense |
probably null |
1.00 |
|
R0023:Carmil3
|
UTSW |
14 |
55,492,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0023:Carmil3
|
UTSW |
14 |
55,492,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0027:Carmil3
|
UTSW |
14 |
55,494,403 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0101:Carmil3
|
UTSW |
14 |
55,497,755 (GRCm38) |
splice site |
probably benign |
|
|
R0321:Carmil3
|
UTSW |
14 |
55,502,241 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R0370:Carmil3
|
UTSW |
14 |
55,495,442 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0465:Carmil3
|
UTSW |
14 |
55,499,861 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0647:Carmil3
|
UTSW |
14 |
55,502,435 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1503:Carmil3
|
UTSW |
14 |
55,498,280 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1635:Carmil3
|
UTSW |
14 |
55,496,282 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1715:Carmil3
|
UTSW |
14 |
55,504,532 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1923:Carmil3
|
UTSW |
14 |
55,502,404 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1944:Carmil3
|
UTSW |
14 |
55,498,630 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2513:Carmil3
|
UTSW |
14 |
55,503,838 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2892:Carmil3
|
UTSW |
14 |
55,498,313 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3433:Carmil3
|
UTSW |
14 |
55,507,694 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3552:Carmil3
|
UTSW |
14 |
55,507,402 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3783:Carmil3
|
UTSW |
14 |
55,496,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3787:Carmil3
|
UTSW |
14 |
55,496,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4181:Carmil3
|
UTSW |
14 |
55,503,955 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4285:Carmil3
|
UTSW |
14 |
55,499,476 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4420:Carmil3
|
UTSW |
14 |
55,493,588 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4424:Carmil3
|
UTSW |
14 |
55,501,471 (GRCm38) |
missense |
probably benign |
|
|
R4506:Carmil3
|
UTSW |
14 |
55,499,476 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4507:Carmil3
|
UTSW |
14 |
55,499,476 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4534:Carmil3
|
UTSW |
14 |
55,499,476 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4535:Carmil3
|
UTSW |
14 |
55,499,476 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4549:Carmil3
|
UTSW |
14 |
55,505,664 (GRCm38) |
splice site |
probably null |
|
|
R4574:Carmil3
|
UTSW |
14 |
55,499,476 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4783:Carmil3
|
UTSW |
14 |
55,501,321 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4784:Carmil3
|
UTSW |
14 |
55,501,321 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5146:Carmil3
|
UTSW |
14 |
55,497,179 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5279:Carmil3
|
UTSW |
14 |
55,501,571 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5425:Carmil3
|
UTSW |
14 |
55,493,877 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5530:Carmil3
|
UTSW |
14 |
55,493,624 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5534:Carmil3
|
UTSW |
14 |
55,494,890 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5598:Carmil3
|
UTSW |
14 |
55,503,999 (GRCm38) |
frame shift |
probably null |
|
|
R5772:Carmil3
|
UTSW |
14 |
55,493,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5896:Carmil3
|
UTSW |
14 |
55,503,999 (GRCm38) |
frame shift |
probably null |
|
|
R5931:Carmil3
|
UTSW |
14 |
55,498,940 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6048:Carmil3
|
UTSW |
14 |
55,503,845 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6103:Carmil3
|
UTSW |
14 |
55,505,427 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6258:Carmil3
|
UTSW |
14 |
55,500,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6260:Carmil3
|
UTSW |
14 |
55,500,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6339:Carmil3
|
UTSW |
14 |
55,499,849 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6646:Carmil3
|
UTSW |
14 |
55,507,930 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6936:Carmil3
|
UTSW |
14 |
55,501,561 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7164:Carmil3
|
UTSW |
14 |
55,501,282 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7214:Carmil3
|
UTSW |
14 |
55,498,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7223:Carmil3
|
UTSW |
14 |
55,496,238 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7269:Carmil3
|
UTSW |
14 |
55,493,895 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7319:Carmil3
|
UTSW |
14 |
55,494,360 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7357:Carmil3
|
UTSW |
14 |
55,491,133 (GRCm38) |
start gained |
probably benign |
|
|
R7386:Carmil3
|
UTSW |
14 |
55,497,747 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7463:Carmil3
|
UTSW |
14 |
55,502,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7598:Carmil3
|
UTSW |
14 |
55,494,821 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R7602:Carmil3
|
UTSW |
14 |
55,501,508 (GRCm38) |
missense |
probably null |
0.00 |
|
R7617:Carmil3
|
UTSW |
14 |
55,497,891 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7985:Carmil3
|
UTSW |
14 |
55,496,952 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8127:Carmil3
|
UTSW |
14 |
55,498,244 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8423:Carmil3
|
UTSW |
14 |
55,499,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8465:Carmil3
|
UTSW |
14 |
55,496,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8849:Carmil3
|
UTSW |
14 |
55,497,170 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8955:Carmil3
|
UTSW |
14 |
55,496,077 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9321:Carmil3
|
UTSW |
14 |
55,503,968 (GRCm38) |
missense |
|
|
|
R9346:Carmil3
|
UTSW |
14 |
55,494,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9387:Carmil3
|
UTSW |
14 |
55,494,412 (GRCm38) |
nonsense |
probably null |
|
|
R9578:Carmil3
|
UTSW |
14 |
55,503,836 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
U24488:Carmil3
|
UTSW |
14 |
55,497,179 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1088:Carmil3
|
UTSW |
14 |
55,501,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGAGCATCTAAGCATTG -3'
(R):5'- AGGTCAGGATCCAAGGCTTCAG -3'
Sequencing Primer
(F):5'- GAGCATCTAAGCATTGCTCCGTG -3'
(R):5'- GGGCGTCTCCATTCTATTT -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation