Incidental Mutation 'R3433:Carmil3'
ID |
266309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carmil3
|
Ensembl Gene |
ENSMUSG00000022211 |
Gene Name |
capping protein regulator and myosin 1 linker 3 |
Synonyms |
Lrrc16b |
MMRRC Submission |
040651-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.312)
|
Stock # |
R3433 (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 55745151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1331
(D1331G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074225]
[ENSMUST00000076236]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000226757]
[ENSMUST00000171643]
[ENSMUST00000228877]
|
AlphaFold |
Q3UFQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074225
|
SMART Domains |
Protein: ENSMUSP00000073847 Gene: ENSMUSG00000022212
Domain | Start | End | E-Value | Type |
C2
|
21 |
126 |
6.65e-3 |
SMART |
C2
|
155 |
258 |
7.51e-11 |
SMART |
VWA
|
304 |
506 |
4.37e-14 |
SMART |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076236
AA Change: D1331G
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000075587 Gene: ENSMUSG00000022211 AA Change: D1331G
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 |
probably benign
Transcript: ENSMUST00000163767
|
SMART Domains |
Protein: ENSMUSP00000126493 Gene: ENSMUSG00000022212
Domain | Start | End | E-Value | Type |
C2
|
21 |
126 |
6.65e-3 |
SMART |
C2
|
155 |
258 |
7.51e-11 |
SMART |
VWA
|
304 |
506 |
4.37e-14 |
SMART |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165262
|
SMART Domains |
Protein: ENSMUSP00000132999 Gene: ENSMUSG00000022212
Domain | Start | End | E-Value | Type |
C2
|
21 |
126 |
6.65e-3 |
SMART |
C2
|
155 |
258 |
7.51e-11 |
SMART |
VWA
|
304 |
505 |
2.34e-14 |
SMART |
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165725
|
SMART Domains |
Protein: ENSMUSP00000130799 Gene: ENSMUSG00000022212
Domain | Start | End | E-Value | Type |
C2
|
21 |
126 |
1.22e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170155
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227088
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171643
|
SMART Domains |
Protein: ENSMUSP00000128555 Gene: ENSMUSG00000022212
Domain | Start | End | E-Value | Type |
C2
|
21 |
126 |
6.65e-3 |
SMART |
C2
|
155 |
258 |
7.51e-11 |
SMART |
VWA
|
304 |
506 |
4.37e-14 |
SMART |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226653
|
Meta Mutation Damage Score |
0.0838 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,893,455 (GRCm39) |
W1302R |
probably damaging |
Het |
Abcf1 |
A |
G |
17: 36,269,109 (GRCm39) |
Y689H |
probably benign |
Het |
Adamtsl5 |
T |
C |
10: 80,178,725 (GRCm39) |
T218A |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,987,358 (GRCm39) |
V2881L |
probably benign |
Het |
Atp6v1b1 |
C |
A |
6: 83,720,074 (GRCm39) |
T3K |
possibly damaging |
Het |
Atp8b5 |
A |
T |
4: 43,372,697 (GRCm39) |
R1112S |
probably benign |
Het |
Catsperg2 |
A |
G |
7: 29,400,643 (GRCm39) |
F696S |
possibly damaging |
Het |
Cd33 |
T |
C |
7: 43,179,331 (GRCm39) |
T273A |
probably benign |
Het |
Cenpf |
C |
T |
1: 189,392,146 (GRCm39) |
C562Y |
probably damaging |
Het |
Cep192 |
A |
G |
18: 67,967,963 (GRCm39) |
R816G |
probably benign |
Het |
Cnot11 |
G |
A |
1: 39,584,268 (GRCm39) |
|
probably null |
Het |
Col18a1 |
A |
G |
10: 76,932,102 (GRCm39) |
L329P |
unknown |
Het |
Dnah9 |
T |
C |
11: 65,965,938 (GRCm39) |
M1693V |
possibly damaging |
Het |
Fbxo41 |
A |
G |
6: 85,454,613 (GRCm39) |
I701T |
probably damaging |
Het |
Figla |
G |
T |
6: 85,994,411 (GRCm39) |
R62L |
probably damaging |
Het |
Gca |
T |
G |
2: 62,520,318 (GRCm39) |
S159R |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm10845 |
C |
T |
14: 80,100,851 (GRCm39) |
|
noncoding transcript |
Het |
Gm5114 |
T |
C |
7: 39,058,621 (GRCm39) |
K333E |
probably benign |
Het |
Ift140 |
T |
C |
17: 25,255,282 (GRCm39) |
I466T |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,365 (GRCm39) |
K653E |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,426,742 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
T |
C |
2: 62,552,261 (GRCm39) |
D910G |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,145,131 (GRCm39) |
T177K |
probably benign |
Het |
Lrrtm2 |
A |
C |
18: 35,346,950 (GRCm39) |
S117R |
probably damaging |
Het |
Megf8 |
G |
T |
7: 25,059,549 (GRCm39) |
A2285S |
probably benign |
Het |
Meiob |
T |
C |
17: 25,035,571 (GRCm39) |
|
probably benign |
Het |
Myo18a |
G |
T |
11: 77,708,870 (GRCm39) |
|
probably null |
Het |
Nars1 |
A |
T |
18: 64,642,374 (GRCm39) |
M156K |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,137,823 (GRCm39) |
S499P |
possibly damaging |
Het |
Or2a57 |
A |
T |
6: 43,212,607 (GRCm39) |
I22F |
probably damaging |
Het |
Or2r11 |
G |
A |
6: 42,437,888 (GRCm39) |
H22Y |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,577 (GRCm39) |
I218V |
probably benign |
Het |
Pcdh15 |
T |
G |
10: 74,467,331 (GRCm39) |
S1715A |
probably benign |
Het |
Ptprd |
C |
A |
4: 76,004,248 (GRCm39) |
|
probably null |
Het |
Ros1 |
A |
G |
10: 51,967,204 (GRCm39) |
Y1668H |
probably benign |
Het |
Rrbp1 |
A |
G |
2: 143,794,200 (GRCm39) |
|
probably benign |
Het |
Rtn4rl2 |
T |
C |
2: 84,702,444 (GRCm39) |
Y376C |
probably damaging |
Het |
Seh1l |
A |
C |
18: 67,926,222 (GRCm39) |
K358T |
probably benign |
Het |
Sema3e |
A |
T |
5: 14,302,728 (GRCm39) |
Y751F |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Spred2 |
G |
T |
11: 19,948,277 (GRCm39) |
E91* |
probably null |
Het |
Sspo |
A |
T |
6: 48,452,885 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
A |
G |
6: 42,663,508 (GRCm39) |
V124A |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,901,360 (GRCm39) |
|
probably benign |
Het |
Txndc11 |
T |
C |
16: 10,906,052 (GRCm39) |
T493A |
probably benign |
Het |
Usp17lb |
T |
A |
7: 104,490,855 (GRCm39) |
Q23L |
possibly damaging |
Het |
Vgf |
T |
C |
5: 137,059,873 (GRCm39) |
F12L |
probably benign |
Het |
Zfp13 |
G |
A |
17: 23,795,602 (GRCm39) |
T323I |
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 |
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 |
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'- AAACTGACTGGCCCGACATC -3'
(R):5'- ATATTTGGGCTCGAAGGGGC -3'
Sequencing Primer
(F):5'- CTTTCTCTGCTAGCTACAGGAG -3'
(R):5'- CTCGAAGGGGCCATGTTTGAC -3'
|
Posted On |
2015-02-18 |