Incidental Mutation 'R6048:Carmil3'
| ID |
483414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carmil3
|
| Ensembl Gene |
ENSMUSG00000022211 |
| Gene Name |
capping protein regulator and myosin 1 linker 3 |
| Synonyms |
Lrrc16b |
| MMRRC Submission |
044216-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R6048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55741302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1029
(R1029Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076236]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
| AlphaFold |
Q3UFQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076236
AA Change: R1029Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: R1029Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000226653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a2 |
T |
C |
9: 71,169,049 (GRCm39) |
I177T |
probably damaging |
Het |
| Aopep |
T |
A |
13: 63,388,139 (GRCm39) |
F39L |
probably damaging |
Het |
| Arl4c |
A |
G |
1: 88,629,350 (GRCm39) |
S13P |
possibly damaging |
Het |
| Bst1 |
G |
T |
5: 43,976,306 (GRCm39) |
|
probably benign |
Het |
| Cflar |
A |
G |
1: 58,780,202 (GRCm39) |
T269A |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,121,798 (GRCm39) |
Y236F |
probably damaging |
Het |
| Clmp |
T |
A |
9: 40,682,405 (GRCm39) |
I63N |
probably damaging |
Het |
| Cln6 |
T |
C |
9: 62,751,908 (GRCm39) |
L44P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,718,915 (GRCm39) |
A280T |
unknown |
Het |
| Dact2 |
A |
G |
17: 14,417,567 (GRCm39) |
L211P |
probably damaging |
Het |
| Dclk2 |
G |
T |
3: 86,813,272 (GRCm39) |
Q225K |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,453,616 (GRCm39) |
F1245S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,835,259 (GRCm39) |
K3540E |
unknown |
Het |
| Eif3i |
T |
C |
4: 129,487,145 (GRCm39) |
N240S |
probably benign |
Het |
| Enpp1 |
T |
C |
10: 24,536,152 (GRCm39) |
Y416C |
probably damaging |
Het |
| Epb42 |
T |
A |
2: 120,854,889 (GRCm39) |
R565S |
probably benign |
Het |
| Eral1 |
G |
A |
11: 77,966,609 (GRCm39) |
P217L |
probably benign |
Het |
| Fbxl16 |
A |
G |
17: 26,035,967 (GRCm39) |
Y188C |
probably benign |
Het |
| Fgd3 |
G |
A |
13: 49,427,224 (GRCm39) |
P503S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,340,062 (GRCm39) |
L785P |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,835,769 (GRCm39) |
|
probably null |
Het |
| Gm10787 |
C |
T |
10: 76,857,676 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
A |
G |
19: 23,653,246 (GRCm39) |
K12R |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,675,758 (GRCm39) |
L424P |
probably damaging |
Het |
| H2ac11 |
A |
G |
13: 22,227,006 (GRCm39) |
V31A |
probably benign |
Het |
| Il17re |
T |
C |
6: 113,447,069 (GRCm39) |
S607P |
possibly damaging |
Het |
| Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,651,780 (GRCm39) |
M854T |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,348,086 (GRCm39) |
L315P |
probably damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,497,734 (GRCm39) |
V11A |
possibly damaging |
Het |
| Mxd1 |
C |
A |
6: 86,627,966 (GRCm39) |
D191Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,807,160 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,543,128 (GRCm39) |
|
probably null |
Het |
| Nxph1 |
A |
T |
6: 9,247,103 (GRCm39) |
T25S |
probably benign |
Het |
| Or1n1 |
A |
G |
2: 36,749,853 (GRCm39) |
V169A |
probably benign |
Het |
| Or2bd2 |
A |
C |
7: 6,443,354 (GRCm39) |
T152P |
possibly damaging |
Het |
| Or3a1 |
A |
T |
11: 74,225,961 (GRCm39) |
I32K |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,526 (GRCm39) |
N7S |
probably benign |
Het |
| Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,695 (GRCm39) |
F79L |
possibly damaging |
Het |
| Oxsm |
T |
A |
14: 16,242,308 (GRCm38) |
M154L |
possibly damaging |
Het |
| Papolg |
A |
C |
11: 23,841,815 (GRCm39) |
I36S |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,107,502 (GRCm39) |
H544Q |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,656 (GRCm39) |
|
probably null |
Het |
| Prkce |
C |
A |
17: 86,800,775 (GRCm39) |
P397Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,276,765 (GRCm39) |
S492G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,054,659 (GRCm39) |
Y630H |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,459,973 (GRCm39) |
T211I |
possibly damaging |
Het |
| Scyl2 |
A |
T |
10: 89,481,348 (GRCm39) |
D666E |
probably benign |
Het |
| Sertad2 |
A |
G |
11: 20,598,436 (GRCm39) |
T211A |
probably benign |
Het |
| Sipa1l1 |
A |
T |
12: 82,487,643 (GRCm39) |
Q1639L |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,101,073 (GRCm39) |
D98G |
probably damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,185,332 (GRCm39) |
|
probably null |
Het |
| Spmip2 |
T |
C |
3: 79,313,192 (GRCm39) |
S89P |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 128,346,181 (GRCm39) |
S114P |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,019,846 (GRCm39) |
G579R |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,517,295 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,448 (GRCm39) |
I110T |
probably damaging |
Het |
| Vps37a |
C |
T |
8: 40,981,363 (GRCm39) |
L69F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,338,587 (GRCm39) |
I276N |
possibly damaging |
Het |
| Zfp946 |
G |
A |
17: 22,673,821 (GRCm39) |
E192K |
probably benign |
Het |
|
| Other mutations in Carmil3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Carmil3
|
APN |
14 |
55,735,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00498:Carmil3
|
APN |
14 |
55,739,352 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01061:Carmil3
|
APN |
14 |
55,736,087 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01452:Carmil3
|
APN |
14 |
55,733,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01606:Carmil3
|
APN |
14 |
55,731,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01633:Carmil3
|
APN |
14 |
55,731,684 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01977:Carmil3
|
APN |
14 |
55,730,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Carmil3
|
APN |
14 |
55,731,279 (GRCm39) |
splice site |
probably benign |
|
|
IGL02160:Carmil3
|
APN |
14 |
55,731,015 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02491:Carmil3
|
APN |
14 |
55,741,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02567:Carmil3
|
APN |
14 |
55,736,339 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02629:Carmil3
|
APN |
14 |
55,736,525 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02720:Carmil3
|
APN |
14 |
55,744,867 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03100:Carmil3
|
APN |
14 |
55,732,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4434001:Carmil3
|
UTSW |
14 |
55,732,145 (GRCm39) |
missense |
probably null |
1.00 |
|
R0023:Carmil3
|
UTSW |
14 |
55,730,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Carmil3
|
UTSW |
14 |
55,730,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Carmil3
|
UTSW |
14 |
55,731,860 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0101:Carmil3
|
UTSW |
14 |
55,735,212 (GRCm39) |
splice site |
probably benign |
|
|
R0321:Carmil3
|
UTSW |
14 |
55,739,698 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0370:Carmil3
|
UTSW |
14 |
55,732,899 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0465:Carmil3
|
UTSW |
14 |
55,737,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0647:Carmil3
|
UTSW |
14 |
55,739,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1503:Carmil3
|
UTSW |
14 |
55,735,737 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1635:Carmil3
|
UTSW |
14 |
55,733,739 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1715:Carmil3
|
UTSW |
14 |
55,741,989 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1923:Carmil3
|
UTSW |
14 |
55,739,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1944:Carmil3
|
UTSW |
14 |
55,736,087 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2513:Carmil3
|
UTSW |
14 |
55,741,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2892:Carmil3
|
UTSW |
14 |
55,735,770 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3433:Carmil3
|
UTSW |
14 |
55,745,151 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3552:Carmil3
|
UTSW |
14 |
55,744,859 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3783:Carmil3
|
UTSW |
14 |
55,734,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Carmil3
|
UTSW |
14 |
55,734,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4181:Carmil3
|
UTSW |
14 |
55,741,412 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4285:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4420:Carmil3
|
UTSW |
14 |
55,731,045 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4424:Carmil3
|
UTSW |
14 |
55,738,928 (GRCm39) |
missense |
probably benign |
|
|
R4506:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4507:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4534:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4535:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4549:Carmil3
|
UTSW |
14 |
55,743,121 (GRCm39) |
splice site |
probably null |
|
|
R4574:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4783:Carmil3
|
UTSW |
14 |
55,738,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4784:Carmil3
|
UTSW |
14 |
55,738,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5146:Carmil3
|
UTSW |
14 |
55,734,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5279:Carmil3
|
UTSW |
14 |
55,739,028 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5425:Carmil3
|
UTSW |
14 |
55,731,334 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5530:Carmil3
|
UTSW |
14 |
55,731,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5534:Carmil3
|
UTSW |
14 |
55,732,347 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5598:Carmil3
|
UTSW |
14 |
55,741,456 (GRCm39) |
frame shift |
probably null |
|
|
R5772:Carmil3
|
UTSW |
14 |
55,730,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Carmil3
|
UTSW |
14 |
55,741,456 (GRCm39) |
frame shift |
probably null |
|
|
R5931:Carmil3
|
UTSW |
14 |
55,736,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6103:Carmil3
|
UTSW |
14 |
55,742,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6258:Carmil3
|
UTSW |
14 |
55,737,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Carmil3
|
UTSW |
14 |
55,737,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Carmil3
|
UTSW |
14 |
55,737,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6339:Carmil3
|
UTSW |
14 |
55,737,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6646:Carmil3
|
UTSW |
14 |
55,745,387 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6936:Carmil3
|
UTSW |
14 |
55,739,018 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7164:Carmil3
|
UTSW |
14 |
55,738,739 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7214:Carmil3
|
UTSW |
14 |
55,736,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Carmil3
|
UTSW |
14 |
55,733,695 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7269:Carmil3
|
UTSW |
14 |
55,731,352 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7319:Carmil3
|
UTSW |
14 |
55,731,817 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7357:Carmil3
|
UTSW |
14 |
55,728,590 (GRCm39) |
start gained |
probably benign |
|
|
R7386:Carmil3
|
UTSW |
14 |
55,735,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7463:Carmil3
|
UTSW |
14 |
55,739,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Carmil3
|
UTSW |
14 |
55,732,278 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7602:Carmil3
|
UTSW |
14 |
55,738,965 (GRCm39) |
missense |
probably null |
0.00 |
|
R7617:Carmil3
|
UTSW |
14 |
55,735,348 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7985:Carmil3
|
UTSW |
14 |
55,734,409 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8127:Carmil3
|
UTSW |
14 |
55,735,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8423:Carmil3
|
UTSW |
14 |
55,736,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Carmil3
|
UTSW |
14 |
55,734,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Carmil3
|
UTSW |
14 |
55,734,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8955:Carmil3
|
UTSW |
14 |
55,733,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9321:Carmil3
|
UTSW |
14 |
55,741,425 (GRCm39) |
missense |
|
|
|
R9346:Carmil3
|
UTSW |
14 |
55,732,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Carmil3
|
UTSW |
14 |
55,731,869 (GRCm39) |
nonsense |
probably null |
|
|
R9578:Carmil3
|
UTSW |
14 |
55,741,293 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
U24488:Carmil3
|
UTSW |
14 |
55,734,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Carmil3
|
UTSW |
14 |
55,739,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTAGGTTCAAGAGGCCACTG -3'
(R):5'- GGAGATGAGTTATTGCCAAGGC -3'
Sequencing Primer
(F):5'- CCACTGATGGTTTCTGACAGACG -3'
(R):5'- AGGGCTCTCCTGAGTTGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation