Incidental Mutation 'R7223:Carmil3'
ID |
561971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carmil3
|
Ensembl Gene |
ENSMUSG00000022211 |
Gene Name |
capping protein regulator and myosin 1 linker 3 |
Synonyms |
Lrrc16b |
MMRRC Submission |
045295-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.312)
|
Stock # |
R7223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55733695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 359
(F359S)
|
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: F359S
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000075587 Gene: ENSMUSG00000022211 AA Change: F359S
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: ENSMUST00000226446
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,104,487 (GRCm39) |
V733E |
probably benign |
Het |
Adam34 |
A |
T |
8: 44,105,041 (GRCm39) |
N201K |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 4,029,592 (GRCm39) |
S322R |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,475,058 (GRCm39) |
L914Q |
probably damaging |
Het |
Arhgap30 |
T |
C |
1: 171,235,139 (GRCm39) |
F535S |
probably damaging |
Het |
Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
Baz2a |
G |
T |
10: 127,948,475 (GRCm39) |
G252V |
probably damaging |
Het |
Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
Ccdc124 |
A |
T |
8: 71,321,170 (GRCm39) |
L190Q |
probably damaging |
Het |
Ccr6 |
T |
C |
17: 8,474,972 (GRCm39) |
V59A |
probably damaging |
Het |
Ccr8 |
T |
A |
9: 119,923,683 (GRCm39) |
I266N |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,167,596 (GRCm39) |
E1798V |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,153,684 (GRCm39) |
N1713S |
probably benign |
Het |
Cep19 |
T |
A |
16: 31,922,833 (GRCm39) |
I33N |
probably damaging |
Het |
Cers3 |
A |
T |
7: 66,433,163 (GRCm39) |
Y196F |
probably damaging |
Het |
Cidea |
T |
C |
18: 67,499,491 (GRCm39) |
I126T |
probably damaging |
Het |
Copg2 |
A |
T |
6: 30,789,689 (GRCm39) |
Y546* |
probably null |
Het |
Cul3 |
A |
T |
1: 80,264,717 (GRCm39) |
V261E |
probably benign |
Het |
Cyp2g1 |
A |
T |
7: 26,514,057 (GRCm39) |
D221V |
probably damaging |
Het |
Cyp8b1 |
G |
A |
9: 121,744,163 (GRCm39) |
H390Y |
probably damaging |
Het |
Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
Dnajc24 |
G |
A |
2: 105,832,311 (GRCm39) |
S24L |
possibly damaging |
Het |
Dpysl3 |
T |
C |
18: 43,571,107 (GRCm39) |
S56G |
probably benign |
Het |
Esp1 |
A |
G |
17: 41,041,972 (GRCm39) |
D88G |
probably benign |
Het |
Fam171b |
A |
G |
2: 83,708,574 (GRCm39) |
T359A |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,177,718 (GRCm39) |
E536G |
possibly damaging |
Het |
Fbxo3 |
T |
C |
2: 103,873,357 (GRCm39) |
V156A |
possibly damaging |
Het |
Gls2 |
C |
A |
10: 128,035,063 (GRCm39) |
H65Q |
probably benign |
Het |
Gp2 |
A |
G |
7: 119,050,721 (GRCm39) |
|
probably null |
Het |
Gpcpd1 |
T |
A |
2: 132,375,976 (GRCm39) |
K435I |
probably benign |
Het |
Gpx6 |
T |
A |
13: 21,501,840 (GRCm39) |
|
probably null |
Het |
Hps3 |
A |
T |
3: 20,084,583 (GRCm39) |
S202T |
probably benign |
Het |
Htr1d |
T |
A |
4: 136,170,812 (GRCm39) |
L347H |
probably damaging |
Het |
Igfals |
T |
C |
17: 25,100,208 (GRCm39) |
L433P |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,419,530 (GRCm39) |
H537Y |
probably benign |
Het |
Iqgap2 |
A |
T |
13: 95,765,480 (GRCm39) |
M1530K |
probably damaging |
Het |
Jarid2 |
A |
G |
13: 45,049,798 (GRCm39) |
T247A |
possibly damaging |
Het |
L3hypdh |
C |
T |
12: 72,120,783 (GRCm39) |
V323I |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,715,665 (GRCm39) |
T1707I |
possibly damaging |
Het |
Map6 |
G |
T |
7: 98,917,232 (GRCm39) |
A2S |
probably damaging |
Het |
Mfap3 |
T |
A |
11: 57,421,066 (GRCm39) |
I349K |
probably benign |
Het |
Mybl2 |
A |
G |
2: 162,914,625 (GRCm39) |
T248A |
probably benign |
Het |
N6amt1 |
A |
G |
16: 87,159,548 (GRCm39) |
*151W |
probably null |
Het |
Nhlrc1 |
A |
G |
13: 47,167,684 (GRCm39) |
V191A |
probably benign |
Het |
Nkx2-5 |
T |
C |
17: 27,058,594 (GRCm39) |
E120G |
possibly damaging |
Het |
Or2y10 |
T |
A |
11: 49,454,925 (GRCm39) |
M59K |
probably damaging |
Het |
Or52r1b |
C |
A |
7: 102,690,839 (GRCm39) |
T46N |
possibly damaging |
Het |
Or8b41 |
T |
C |
9: 38,055,049 (GRCm39) |
V201A |
probably benign |
Het |
Or8k28 |
T |
A |
2: 86,286,211 (GRCm39) |
I135F |
possibly damaging |
Het |
Pcdha8 |
T |
G |
18: 37,126,201 (GRCm39) |
L228V |
probably benign |
Het |
Pcsk2 |
A |
G |
2: 143,532,253 (GRCm39) |
T134A |
possibly damaging |
Het |
Phldb3 |
G |
A |
7: 24,324,078 (GRCm39) |
R484Q |
probably benign |
Het |
Pipox |
A |
G |
11: 77,772,012 (GRCm39) |
S371P |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,823,343 (GRCm39) |
S159P |
|
Het |
Psme4 |
C |
T |
11: 30,824,226 (GRCm39) |
P1737S |
probably benign |
Het |
Pygm |
G |
A |
19: 6,438,893 (GRCm39) |
D328N |
probably benign |
Het |
Rabgef1 |
A |
T |
5: 130,219,801 (GRCm39) |
E88V |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,300,428 (GRCm39) |
R245L |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,908,226 (GRCm39) |
I172V |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,099,009 (GRCm39) |
Y586N |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,761,610 (GRCm39) |
|
probably benign |
Het |
Sorcs1 |
C |
T |
19: 50,178,480 (GRCm39) |
V881I |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,601,726 (GRCm39) |
V1512E |
unknown |
Het |
Sufu |
T |
C |
19: 46,441,716 (GRCm39) |
I292T |
possibly damaging |
Het |
Tet1 |
T |
C |
10: 62,649,450 (GRCm39) |
N87D |
possibly damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,733 (GRCm39) |
T239A |
not run |
Het |
Tmem121 |
A |
T |
12: 113,152,114 (GRCm39) |
K111* |
probably null |
Het |
Tpp2 |
T |
A |
1: 44,008,048 (GRCm39) |
D417E |
probably damaging |
Het |
Tpr |
G |
A |
1: 150,315,007 (GRCm39) |
E2025K |
possibly damaging |
Het |
Trappc3 |
C |
T |
4: 126,168,945 (GRCm39) |
A145V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,721,325 (GRCm39) |
D6754G |
probably null |
Het |
Unc13c |
T |
A |
9: 73,536,473 (GRCm39) |
M1627L |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,542,414 (GRCm39) |
I3327V |
probably benign |
Het |
Vmn1r74 |
C |
T |
7: 11,580,894 (GRCm39) |
Q65* |
probably null |
Het |
Wdr18 |
G |
A |
10: 79,796,202 (GRCm39) |
R69H |
probably damaging |
Het |
Zbed5 |
G |
T |
5: 129,929,279 (GRCm39) |
D132Y |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,785,448 (GRCm39) |
Y366* |
probably null |
Het |
Zfyve26 |
T |
C |
12: 79,292,945 (GRCm39) |
N2068S |
probably damaging |
Het |
Zic2 |
T |
C |
14: 122,713,503 (GRCm39) |
F139S |
probably damaging |
Het |
Zmynd11 |
T |
C |
13: 9,760,198 (GRCm39) |
Q141R |
probably benign |
Het |
Zrsr2-ps1 |
A |
G |
11: 22,923,388 (GRCm39) |
E54G |
probably benign |
Het |
Zscan10 |
G |
A |
17: 23,828,456 (GRCm39) |
D333N |
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 |
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 |
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'- TACCTGGACCTGAGCAAGAAC -3'
(R):5'- TACTGTGCATGAACCCGAAG -3'
Sequencing Primer
(F):5'- AAGAACCCAGGGCTGCTTG -3'
(R):5'- GAAGTCACCCTTGTATCACCG -3'
|
Posted On |
2019-06-26 |