Incidental Mutation 'R6260:Carmil3'
ID |
506646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carmil3
|
Ensembl Gene |
ENSMUSG00000022211 |
Gene Name |
capping protein regulator and myosin 1 linker 3 |
Synonyms |
Lrrc16b |
MMRRC Submission |
044377-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.312)
|
Stock # |
R6260 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55737889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 815
(L815Q)
|
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: L815Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075587 Gene: ENSMUSG00000022211 AA Change: L815Q
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: ENSMUST00000227563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
Meta Mutation Damage Score |
0.2271 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,844,821 (GRCm39) |
N1514K |
probably damaging |
Het |
Abcb4 |
G |
T |
5: 8,984,219 (GRCm39) |
G650* |
probably null |
Het |
Acsbg1 |
T |
A |
9: 54,535,751 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
T |
6: 85,605,717 (GRCm39) |
K2456* |
probably null |
Het |
Alppl2 |
A |
T |
1: 87,016,184 (GRCm39) |
M225K |
probably damaging |
Het |
Ank2 |
C |
T |
3: 126,737,206 (GRCm39) |
V2806I |
probably benign |
Het |
Atxn10 |
A |
T |
15: 85,346,612 (GRCm39) |
I457F |
probably benign |
Het |
Cad |
G |
T |
5: 31,224,144 (GRCm39) |
M800I |
probably null |
Het |
Ccz1 |
A |
G |
5: 143,940,859 (GRCm39) |
|
probably null |
Het |
Cdc73 |
G |
A |
1: 143,567,211 (GRCm39) |
T104I |
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,829,780 (GRCm39) |
C330S |
possibly damaging |
Het |
Clec16a |
C |
T |
16: 10,512,712 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
A |
G |
6: 102,254,178 (GRCm39) |
|
probably null |
Het |
Crocc2 |
A |
G |
1: 93,141,360 (GRCm39) |
K1171R |
possibly damaging |
Het |
Ctsa |
T |
C |
2: 164,676,281 (GRCm39) |
V86A |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,242,144 (GRCm39) |
F244L |
probably benign |
Het |
Ddn |
A |
G |
15: 98,703,735 (GRCm39) |
V519A |
possibly damaging |
Het |
Dip2b |
G |
T |
15: 100,060,583 (GRCm39) |
V253L |
probably benign |
Het |
Dnah17 |
C |
A |
11: 118,017,148 (GRCm39) |
W197C |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 118,017,150 (GRCm39) |
W197R |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 118,017,149 (GRCm39) |
W197* |
probably null |
Het |
Ercc6 |
T |
A |
14: 32,279,813 (GRCm39) |
D609E |
probably benign |
Het |
Erg |
C |
A |
16: 95,181,100 (GRCm39) |
R147L |
probably damaging |
Het |
Fbxo41 |
A |
T |
6: 85,455,537 (GRCm39) |
L549H |
probably damaging |
Het |
Foxd4 |
A |
G |
19: 24,876,968 (GRCm39) |
S411P |
probably benign |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Galntl6 |
T |
A |
8: 58,337,515 (GRCm39) |
D135V |
probably damaging |
Het |
Gm1043 |
G |
C |
5: 37,331,816 (GRCm39) |
G832A |
probably benign |
Het |
Gm21103 |
C |
T |
14: 17,484,841 (GRCm39) |
E68K |
probably damaging |
Het |
Gpam |
A |
G |
19: 55,071,838 (GRCm39) |
V301A |
probably benign |
Het |
H2-M10.1 |
T |
A |
17: 36,634,994 (GRCm39) |
I304F |
unknown |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Jak3 |
C |
A |
8: 72,131,954 (GRCm39) |
Q177K |
probably benign |
Het |
Kcnu1 |
G |
A |
8: 26,341,919 (GRCm39) |
R88H |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,877,371 (GRCm39) |
I60F |
possibly damaging |
Het |
Krt77 |
A |
T |
15: 101,772,807 (GRCm39) |
Y257* |
probably null |
Het |
Lcor |
G |
T |
19: 41,570,810 (GRCm39) |
S1I |
possibly damaging |
Het |
Lcor |
A |
T |
19: 41,570,809 (GRCm39) |
S1C |
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Map4k5 |
C |
A |
12: 69,878,336 (GRCm39) |
R355L |
probably benign |
Het |
Mefv |
C |
T |
16: 3,530,898 (GRCm39) |
R498H |
probably benign |
Het |
Mical3 |
A |
T |
6: 120,985,991 (GRCm39) |
L150Q |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,650,536 (GRCm39) |
Q1340L |
probably damaging |
Het |
Nfic |
A |
T |
10: 81,256,351 (GRCm39) |
C126* |
probably null |
Het |
Nisch |
T |
A |
14: 30,899,085 (GRCm39) |
|
probably benign |
Het |
Nt5dc3 |
A |
G |
10: 86,647,395 (GRCm39) |
Y130C |
probably damaging |
Het |
Or2ag1b |
A |
T |
7: 106,288,079 (GRCm39) |
N286K |
probably damaging |
Het |
Or4f15 |
C |
T |
2: 111,814,396 (GRCm39) |
V8I |
probably benign |
Het |
Or6c65 |
C |
A |
10: 129,603,389 (GRCm39) |
T8K |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,569,892 (GRCm39) |
V346A |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,733,238 (GRCm39) |
S504P |
probably benign |
Het |
Plin2 |
G |
T |
4: 86,575,526 (GRCm39) |
A341D |
probably damaging |
Het |
Plxnb2 |
A |
T |
15: 89,049,494 (GRCm39) |
I575N |
probably benign |
Het |
Pnma8b |
T |
G |
7: 16,680,158 (GRCm39) |
W381G |
probably benign |
Het |
Psma8 |
A |
G |
18: 14,854,324 (GRCm39) |
D68G |
probably damaging |
Het |
Rcor3 |
G |
A |
1: 191,808,559 (GRCm39) |
H207Y |
probably benign |
Het |
Rwdd2b |
C |
A |
16: 87,231,356 (GRCm39) |
G266V |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,490,449 (GRCm39) |
F3795S |
probably damaging |
Het |
Slc28a2b |
A |
T |
2: 122,353,963 (GRCm39) |
I530F |
probably damaging |
Het |
Sord |
T |
A |
2: 122,089,613 (GRCm39) |
|
probably null |
Het |
Spdl1 |
T |
A |
11: 34,710,713 (GRCm39) |
N345I |
probably damaging |
Het |
St8sia2 |
T |
A |
7: 73,626,441 (GRCm39) |
R42S |
possibly damaging |
Het |
Syt9 |
G |
T |
7: 107,035,717 (GRCm39) |
V245F |
possibly damaging |
Het |
Tbpl2 |
T |
A |
2: 23,984,898 (GRCm39) |
N82I |
possibly damaging |
Het |
Tcerg1 |
T |
A |
18: 42,686,530 (GRCm39) |
Y696N |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,595,655 (GRCm39) |
T492A |
probably benign |
Het |
Timm13 |
A |
C |
10: 80,736,135 (GRCm39) |
|
probably benign |
Het |
Trdmt1 |
T |
A |
2: 13,524,870 (GRCm39) |
Q195L |
probably benign |
Het |
Ttc27 |
T |
A |
17: 75,165,086 (GRCm39) |
V764D |
probably damaging |
Het |
Ttc39d |
C |
A |
17: 80,524,076 (GRCm39) |
S245* |
probably null |
Het |
Ttc41 |
A |
G |
10: 86,567,023 (GRCm39) |
E563G |
probably benign |
Het |
Ttc41 |
A |
T |
10: 86,569,571 (GRCm39) |
T650S |
probably benign |
Het |
U2surp |
A |
C |
9: 95,358,210 (GRCm39) |
L723R |
probably damaging |
Het |
Ubqln3 |
G |
A |
7: 103,791,524 (GRCm39) |
Q189* |
probably null |
Het |
Vezf1 |
A |
G |
11: 87,972,326 (GRCm39) |
N229S |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,686,365 (GRCm39) |
M582K |
probably benign |
Het |
Zfp518a |
A |
G |
19: 40,902,567 (GRCm39) |
D832G |
probably benign |
Het |
Zfyve28 |
T |
C |
5: 34,356,216 (GRCm39) |
N762D |
probably 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 |
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 |
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 |
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'- ACTTCCACTGTGGTGCTAGC -3'
(R):5'- TTTCTAGGGCAAGAACGAGTCAG -3'
Sequencing Primer
(F):5'- GGTGCTAGCGCTGATCTTTCC -3'
(R):5'- GAGTCAGACCCTAAATAGCATGACTG -3'
|
Posted On |
2018-03-15 |