Incidental Mutation 'R5279:Carmil3'
ID |
404135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carmil3
|
Ensembl Gene |
ENSMUSG00000022211 |
Gene Name |
capping protein regulator and myosin 1 linker 3 |
Synonyms |
Lrrc16b |
MMRRC Submission |
042839-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.312)
|
Stock # |
R5279 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55739028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 894
(D894G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076236]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
AlphaFold |
Q3UFQ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076236
AA Change: D894G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000075587 Gene: ENSMUSG00000022211 AA Change: D894G
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: ENSMUST00000227088
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
Meta Mutation Damage Score |
0.0939 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
C |
A |
17: 24,508,388 (GRCm39) |
G1049V |
probably damaging |
Het |
Afdn |
G |
A |
17: 14,109,214 (GRCm39) |
R1579H |
probably damaging |
Het |
Ankrd28 |
T |
A |
14: 31,456,963 (GRCm39) |
N386Y |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,580,377 (GRCm39) |
Y1100* |
probably null |
Het |
Atp9b |
T |
A |
18: 80,956,073 (GRCm39) |
E3V |
probably damaging |
Het |
AW554918 |
T |
G |
18: 25,308,488 (GRCm39) |
D60E |
possibly damaging |
Het |
Baz2b |
G |
T |
2: 59,762,496 (GRCm39) |
Q927K |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,957,042 (GRCm39) |
R3659G |
probably damaging |
Het |
C8a |
T |
G |
4: 104,703,185 (GRCm39) |
N291H |
probably damaging |
Het |
Calcoco1 |
G |
A |
15: 102,619,420 (GRCm39) |
L390F |
probably damaging |
Het |
Cdc20 |
A |
G |
4: 118,290,711 (GRCm39) |
Y430H |
probably damaging |
Het |
Cdc6 |
A |
T |
11: 98,803,088 (GRCm39) |
I316F |
probably damaging |
Het |
Ceacam23 |
T |
A |
7: 17,607,214 (GRCm39) |
|
noncoding transcript |
Het |
Cenpu |
T |
A |
8: 47,031,945 (GRCm39) |
|
probably null |
Het |
Csmd2 |
T |
A |
4: 128,350,707 (GRCm39) |
V1592D |
probably benign |
Het |
Csmd3 |
G |
T |
15: 48,655,340 (GRCm39) |
|
probably null |
Het |
Dnah7c |
T |
C |
1: 46,558,429 (GRCm39) |
F512L |
probably benign |
Het |
Fam136a |
T |
A |
6: 86,343,686 (GRCm39) |
L61Q |
probably damaging |
Het |
Fpgs |
A |
C |
2: 32,582,779 (GRCm39) |
|
probably benign |
Het |
Fzd4 |
G |
A |
7: 89,056,881 (GRCm39) |
M309I |
probably benign |
Het |
Gad2 |
A |
G |
2: 22,563,969 (GRCm39) |
T391A |
probably benign |
Het |
Gm11563 |
A |
T |
11: 99,549,539 (GRCm39) |
S72T |
unknown |
Het |
Gon4l |
A |
G |
3: 88,794,944 (GRCm39) |
I716V |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,457,273 (GRCm39) |
V128A |
probably damaging |
Het |
Kat6a |
CGCAGCAGCAGCAGCAGCA |
CGCAGCAGCAGCA |
8: 23,429,664 (GRCm39) |
|
probably benign |
Het |
Lrrc9 |
T |
A |
12: 72,542,368 (GRCm39) |
D1063E |
possibly damaging |
Het |
Lyst |
T |
A |
13: 13,823,387 (GRCm39) |
L1453* |
probably null |
Het |
Mcm3ap |
T |
C |
10: 76,343,373 (GRCm39) |
V1755A |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,314,869 (GRCm39) |
S985P |
probably damaging |
Het |
Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
Nr2c2ap |
G |
A |
8: 70,584,653 (GRCm39) |
D42N |
probably damaging |
Het |
Ntn1 |
A |
G |
11: 68,276,538 (GRCm39) |
S137P |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,186,867 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,430,015 (GRCm39) |
D1210E |
probably damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,827,774 (GRCm39) |
L74P |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,573,022 (GRCm39) |
|
probably null |
Het |
Pdia3 |
T |
C |
2: 121,244,484 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
A |
T |
1: 65,235,858 (GRCm39) |
R177* |
probably null |
Het |
Pklr |
A |
G |
3: 89,050,566 (GRCm39) |
E409G |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,463,376 (GRCm39) |
Y154H |
probably damaging |
Het |
Psmc3 |
T |
A |
2: 90,884,667 (GRCm39) |
D6E |
probably benign |
Het |
Ptpru |
T |
A |
4: 131,547,334 (GRCm39) |
N205I |
possibly damaging |
Het |
Rbm6 |
T |
C |
9: 107,655,213 (GRCm39) |
E1006G |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,154,922 (GRCm39) |
V642A |
probably benign |
Het |
Rnf8 |
T |
A |
17: 29,845,680 (GRCm39) |
H104Q |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rpa1 |
T |
C |
11: 75,204,170 (GRCm39) |
N269S |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,757,857 (GRCm39) |
M519T |
probably benign |
Het |
Snx30 |
A |
G |
4: 59,885,070 (GRCm39) |
S237G |
probably benign |
Het |
Spx |
A |
G |
6: 142,359,766 (GRCm39) |
N36S |
probably damaging |
Het |
Stard7 |
T |
C |
2: 127,137,416 (GRCm39) |
Y289H |
probably damaging |
Het |
Sugp2 |
T |
C |
8: 70,709,757 (GRCm39) |
|
probably benign |
Het |
Susd4 |
C |
T |
1: 182,715,043 (GRCm39) |
T288I |
probably damaging |
Het |
Tceanc2 |
T |
A |
4: 107,034,826 (GRCm39) |
|
probably null |
Het |
Tm4sf4 |
T |
G |
3: 57,341,159 (GRCm39) |
V97G |
probably benign |
Het |
Tmtc1 |
C |
T |
6: 148,256,629 (GRCm39) |
|
probably benign |
Het |
Trappc11 |
C |
T |
8: 47,958,339 (GRCm39) |
|
probably benign |
Het |
Triobp |
G |
T |
15: 78,878,591 (GRCm39) |
V398F |
possibly damaging |
Het |
Ttll9 |
T |
A |
2: 152,804,464 (GRCm39) |
S2T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,731,320 (GRCm39) |
|
probably benign |
Het |
Tyw3 |
A |
G |
3: 154,300,108 (GRCm39) |
C80R |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,242,621 (GRCm39) |
V1177A |
possibly damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,754 (GRCm39) |
V160A |
probably damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,262,146 (GRCm39) |
H328L |
probably benign |
Het |
Vmn2r65 |
A |
C |
7: 84,589,849 (GRCm39) |
I689S |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,731,129 (GRCm39) |
Y1068H |
probably damaging |
Het |
Xpo4 |
C |
A |
14: 57,850,866 (GRCm39) |
S346I |
probably benign |
Het |
Zc3h3 |
T |
A |
15: 75,711,439 (GRCm39) |
T341S |
probably benign |
Het |
Zxdc |
T |
C |
6: 90,347,419 (GRCm39) |
M260T |
possibly damaging |
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 |
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 |
R6048:Carmil3
|
UTSW |
14 |
55,741,302 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TCCAGGATCAGGGAAGTCAG -3'
(R):5'- TGTCCTGCAGAAACGGAGAC -3'
Sequencing Primer
(F):5'- ATCAGGGAAGTCAGCACGTTCC -3'
(R):5'- AGACCCTCAAAGCCTTTTCTTTAGAG -3'
|
Posted On |
2016-07-22 |