Incidental Mutation 'R5896:Carmil3'
| ID |
457548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carmil3
|
| Ensembl Gene |
ENSMUSG00000022211 |
| Gene Name |
capping protein regulator and myosin 1 linker 3 |
| Synonyms |
Lrrc16b |
| MMRRC Submission |
044095-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R5896 (G1)
|
| Quality Score |
106 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
ACCCCC to ACCCCCCC
at 55741456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076236]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
| AlphaFold |
Q3UFQ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076236
|
| SMART Domains |
Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
| 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 |
noncoding transcript
Transcript: ENSMUST00000228760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
99% (86/87) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
A |
T |
16: 88,504,321 (GRCm39) |
S159T |
probably damaging |
Het |
| 2610028H24Rik |
T |
A |
10: 76,288,664 (GRCm39) |
M53K |
probably benign |
Het |
| 3425401B19Rik |
G |
A |
14: 32,383,632 (GRCm39) |
Q778* |
probably null |
Het |
| Abhd16a |
T |
A |
17: 35,310,701 (GRCm39) |
|
probably benign |
Het |
| Acp6 |
A |
G |
3: 97,075,810 (GRCm39) |
K226R |
probably benign |
Het |
| Ankfy1 |
A |
G |
11: 72,650,811 (GRCm39) |
D998G |
probably damaging |
Het |
| Apbb1 |
G |
T |
7: 105,223,432 (GRCm39) |
P60T |
probably damaging |
Het |
| Apol9a |
T |
A |
15: 77,288,705 (GRCm39) |
I221F |
probably benign |
Het |
| Arhgap29 |
A |
G |
3: 121,805,736 (GRCm39) |
E947G |
possibly damaging |
Het |
| B430218F22Rik |
A |
T |
13: 118,523,934 (GRCm39) |
|
probably benign |
Het |
| Ccdc69 |
C |
T |
11: 54,943,716 (GRCm39) |
|
probably null |
Het |
| Ccdc93 |
G |
T |
1: 121,390,849 (GRCm39) |
V274L |
possibly damaging |
Het |
| Cdc25a |
A |
G |
9: 109,713,433 (GRCm39) |
D191G |
probably benign |
Het |
| Cimip2a |
A |
T |
2: 25,110,578 (GRCm39) |
M129L |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,182,373 (GRCm39) |
|
probably null |
Het |
| Crebzf |
TGGAGGAGGAGGAGGAGGA |
TGGAGGAGGAGGAGGA |
7: 90,092,479 (GRCm39) |
|
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,947,859 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
A |
G |
18: 80,502,003 (GRCm39) |
L177P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,272,206 (GRCm39) |
H1003Q |
probably benign |
Het |
| Epb41l2 |
T |
A |
10: 25,369,494 (GRCm39) |
N604K |
probably damaging |
Het |
| Fig4 |
T |
A |
10: 41,130,881 (GRCm39) |
N465Y |
possibly damaging |
Het |
| Gemin7 |
G |
A |
7: 19,299,223 (GRCm39) |
S124F |
probably damaging |
Het |
| Gli3 |
G |
A |
13: 15,900,765 (GRCm39) |
R1384K |
probably benign |
Het |
| Gm12258 |
G |
A |
11: 58,750,457 (GRCm39) |
C544Y |
probably damaging |
Het |
| Grm1 |
C |
T |
10: 10,956,294 (GRCm39) |
|
probably benign |
Het |
| H2-T15 |
T |
A |
17: 36,367,236 (GRCm39) |
M329L |
probably benign |
Het |
| Hps4 |
C |
T |
5: 112,517,351 (GRCm39) |
T246I |
probably benign |
Het |
| Ifngr2 |
A |
T |
16: 91,358,653 (GRCm39) |
E284D |
possibly damaging |
Het |
| Impdh2 |
A |
G |
9: 108,441,165 (GRCm39) |
T148A |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,527,763 (GRCm39) |
S36G |
probably benign |
Het |
| Itga5 |
T |
A |
15: 103,259,514 (GRCm39) |
K667N |
probably benign |
Het |
| Itgad |
G |
A |
7: 127,773,188 (GRCm39) |
C15Y |
probably benign |
Het |
| Ly75 |
T |
G |
2: 60,213,490 (GRCm39) |
E29A |
probably benign |
Het |
| Magi1 |
T |
A |
6: 93,685,180 (GRCm39) |
S506C |
probably damaging |
Het |
| Map4 |
G |
A |
9: 109,901,702 (GRCm39) |
V781M |
possibly damaging |
Het |
| Med23 |
T |
C |
10: 24,778,043 (GRCm39) |
L797P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,559,636 (GRCm39) |
G1123R |
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,274,016 (GRCm39) |
P55Q |
probably damaging |
Het |
| Odr4 |
A |
T |
1: 150,256,111 (GRCm39) |
N211K |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,334,060 (GRCm39) |
I344F |
probably benign |
Het |
| Or4a74 |
C |
A |
2: 89,439,667 (GRCm39) |
V260F |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,012,189 (GRCm39) |
M199K |
probably damaging |
Het |
| Or5d35 |
A |
G |
2: 87,855,465 (GRCm39) |
Y133C |
probably damaging |
Het |
| Or5k1 |
G |
A |
16: 58,618,095 (GRCm39) |
T38I |
probably damaging |
Het |
| Otub2 |
C |
T |
12: 103,369,687 (GRCm39) |
|
probably benign |
Het |
| Parva |
A |
G |
7: 112,143,960 (GRCm39) |
M83V |
probably benign |
Het |
| Pcdha8 |
T |
A |
18: 37,126,572 (GRCm39) |
N351K |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,732 (GRCm39) |
L704* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,353,468 (GRCm39) |
L683H |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,308,331 (GRCm39) |
R288H |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,627,086 (GRCm39) |
N1457K |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,693,719 (GRCm39) |
S981P |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,159,648 (GRCm39) |
K1062E |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,276,007 (GRCm39) |
T498S |
probably benign |
Het |
| Pus7l |
C |
T |
15: 94,427,332 (GRCm39) |
|
probably null |
Het |
| Rptn |
C |
T |
3: 93,305,639 (GRCm39) |
Q991* |
probably null |
Het |
| Rsu1 |
T |
G |
2: 13,229,170 (GRCm39) |
E76A |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,304,824 (GRCm39) |
F214I |
probably damaging |
Het |
| Slc1a7 |
G |
T |
4: 107,869,587 (GRCm39) |
A551S |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,000,941 (GRCm39) |
Y13* |
probably null |
Het |
| Slc7a14 |
T |
G |
3: 31,311,719 (GRCm39) |
L100F |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,932 (GRCm39) |
E1512G |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,767,883 (GRCm39) |
Q458R |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,084,906 (GRCm39) |
T1811A |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,179,667 (GRCm39) |
F624L |
probably benign |
Het |
| Tfeb |
T |
G |
17: 48,070,433 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
A |
17: 34,891,126 (GRCm39) |
G490R |
probably damaging |
Het |
| Tra2b |
T |
C |
16: 22,077,953 (GRCm39) |
Y32C |
probably damaging |
Het |
| Trpv4 |
C |
T |
5: 114,760,708 (GRCm39) |
|
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,637,414 (GRCm39) |
L138* |
probably null |
Het |
| Vwf |
A |
T |
6: 125,655,725 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
G |
A |
3: 108,526,322 (GRCm39) |
D282N |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,290 (GRCm39) |
N844D |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,339,042 (GRCm39) |
M428V |
probably benign |
Het |
| Znfx1 |
G |
A |
2: 166,880,920 (GRCm39) |
T288I |
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 |
|
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'- TTCGCTGCCTGAGAACCAAG -3'
(R):5'- GTGTAGCACTTCTGGCTCAC -3'
Sequencing Primer
(F):5'- CTTGTCATACTGCATGTGGC -3'
(R):5'- GTAGCACTTCTGGCTCACTTACC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation