Incidental Mutation 'R1687:Igdcc4'
| ID |
189430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igdcc4
|
| Ensembl Gene |
ENSMUSG00000032816 |
| Gene Name |
immunoglobulin superfamily, DCC subclass, member 4 |
| Synonyms |
WI-18508, Nope, 9330155G14Rik, WI-16786 |
| MMRRC Submission |
039720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R1687 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65038945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 863
(V863A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035499
AA Change: V864A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: V864A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
40 |
139 |
5e0 |
SMART |
|
IGc2
|
154 |
218 |
1.3e-11 |
SMART |
|
IGc2
|
255 |
318 |
1.13e-11 |
SMART |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
IGc2
|
346 |
411 |
1.34e-13 |
SMART |
|
FN3
|
428 |
511 |
3.58e-12 |
SMART |
|
FN3
|
526 |
610 |
9.54e-8 |
SMART |
|
FN3
|
630 |
726 |
7.34e-9 |
SMART |
|
FN3
|
750 |
832 |
1.05e-9 |
SMART |
|
FN3
|
848 |
932 |
2.14e-10 |
SMART |
|
low complexity region
|
958 |
978 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077696
AA Change: V910A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: V910A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
40 |
139 |
5e0 |
SMART |
|
IGc2
|
154 |
218 |
1.3e-11 |
SMART |
|
IGc2
|
255 |
458 |
7.02e-8 |
SMART |
|
FN3
|
475 |
558 |
3.58e-12 |
SMART |
|
FN3
|
573 |
656 |
1.1e-7 |
SMART |
|
FN3
|
676 |
772 |
7.34e-9 |
SMART |
|
FN3
|
796 |
878 |
1.05e-9 |
SMART |
|
FN3
|
894 |
978 |
2.14e-10 |
SMART |
|
low complexity region
|
1004 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1131 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1200 |
1214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166273
|
| SMART Domains |
Protein: ENSMUSP00000132576
Gene: ENSMUSG00000032816
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Blast:IG
|
40 |
83 |
3e-22 |
BLAST |
|
low complexity region
|
142 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213423
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213533
AA Change: V863A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,184,714 (GRCm39) |
F931I |
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,240,744 (GRCm39) |
H212L |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,035,538 (GRCm39) |
V268D |
probably benign |
Het |
| Armc9 |
A |
G |
1: 86,084,677 (GRCm39) |
M1V |
probably null |
Het |
| Brca1 |
C |
T |
11: 101,380,666 (GRCm39) |
C1789Y |
probably benign |
Het |
| Cacng4 |
A |
G |
11: 107,627,585 (GRCm39) |
V138A |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,829,627 (GRCm39) |
F699S |
probably damaging |
Het |
| Ccm2 |
A |
G |
11: 6,535,118 (GRCm39) |
R67G |
probably damaging |
Het |
| Cdk16 |
G |
A |
X: 20,562,898 (GRCm39) |
|
probably null |
Het |
| Cep85 |
T |
C |
4: 133,875,324 (GRCm39) |
H546R |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,768,502 (GRCm39) |
D207G |
probably damaging |
Het |
| Cldn9 |
G |
T |
17: 23,902,050 (GRCm39) |
R192S |
probably benign |
Het |
| Crybb3 |
A |
G |
5: 113,227,633 (GRCm39) |
S63P |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,341,523 (GRCm39) |
L615P |
probably damaging |
Het |
| Dctn3 |
A |
G |
4: 41,715,407 (GRCm39) |
Y154H |
probably damaging |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,645,009 (GRCm39) |
|
probably null |
Het |
| Eif1ad2 |
A |
G |
12: 87,786,488 (GRCm39) |
D133G |
unknown |
Het |
| Eml6 |
G |
A |
11: 29,783,187 (GRCm39) |
H565Y |
probably damaging |
Het |
| Ephb6 |
T |
C |
6: 41,594,300 (GRCm39) |
V610A |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,434,282 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,111,307 (GRCm39) |
V154I |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,561,373 (GRCm39) |
W1045R |
probably benign |
Het |
| Fubp1 |
A |
G |
3: 151,933,838 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
T |
A |
14: 57,274,333 (GRCm39) |
N13I |
probably damaging |
Het |
| Gpr20 |
C |
A |
15: 73,567,751 (GRCm39) |
V213L |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,065,221 (GRCm39) |
I295T |
probably damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,945,349 (GRCm39) |
F430L |
probably damaging |
Het |
| Gzmk |
T |
A |
13: 113,310,462 (GRCm39) |
I119L |
probably benign |
Het |
| Hadh |
T |
C |
3: 131,038,898 (GRCm39) |
I153V |
probably benign |
Het |
| Hsfy2 |
T |
C |
1: 56,676,012 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hspa5 |
T |
C |
2: 34,665,836 (GRCm39) |
I560T |
probably benign |
Het |
| Il22ra2 |
A |
G |
10: 19,508,620 (GRCm39) |
D216G |
probably benign |
Het |
| Klc2 |
G |
A |
19: 5,161,682 (GRCm39) |
P303S |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,835,859 (GRCm39) |
V1192I |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,862,029 (GRCm39) |
S772P |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,909,935 (GRCm39) |
L96Q |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,350,929 (GRCm39) |
I726T |
probably damaging |
Het |
| Ndnf |
A |
T |
6: 65,680,407 (GRCm39) |
T229S |
probably benign |
Het |
| Npas3 |
A |
T |
12: 54,095,658 (GRCm39) |
|
probably null |
Het |
| Nrap |
C |
T |
19: 56,343,961 (GRCm39) |
E729K |
probably damaging |
Het |
| Nsun2 |
T |
A |
13: 69,775,716 (GRCm39) |
F387I |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pabpc1l |
C |
T |
2: 163,886,226 (GRCm39) |
T452M |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,334,450 (GRCm39) |
Y255H |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,529,087 (GRCm39) |
Y72N |
probably damaging |
Het |
| Pglyrp1 |
A |
T |
7: 18,618,629 (GRCm39) |
|
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,086,573 (GRCm39) |
|
probably null |
Het |
| Ppard |
A |
G |
17: 28,516,154 (GRCm39) |
Y126C |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,295,344 (GRCm39) |
Y598H |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,109 (GRCm39) |
T287A |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,869,010 (GRCm39) |
Y361H |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,983 (GRCm39) |
I640N |
probably damaging |
Het |
| Smurf2 |
C |
A |
11: 106,726,896 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
C |
11: 78,195,755 (GRCm39) |
V354A |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
| St6galnac5 |
C |
A |
3: 152,686,887 (GRCm39) |
L22F |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,695,284 (GRCm39) |
S86P |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,747,299 (GRCm39) |
I111V |
possibly damaging |
Het |
| Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
| Trim36 |
G |
T |
18: 46,321,724 (GRCm39) |
H108N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,701,251 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,935,317 (GRCm39) |
S89R |
probably benign |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,488 (GRCm39) |
D223G |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,590,026 (GRCm39) |
Y630F |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,233,673 (GRCm39) |
S900T |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,117,481 (GRCm39) |
N731S |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,525,451 (GRCm39) |
F123L |
probably damaging |
Het |
| Zfp648 |
A |
G |
1: 154,079,988 (GRCm39) |
D49G |
probably benign |
Het |
|
| Other mutations in Igdcc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Igdcc4
|
APN |
9 |
65,042,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Igdcc4
|
APN |
9 |
65,031,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Igdcc4
|
APN |
9 |
65,021,731 (GRCm39) |
splice site |
probably benign |
|
|
IGL01485:Igdcc4
|
APN |
9 |
65,029,889 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01552:Igdcc4
|
APN |
9 |
65,029,784 (GRCm39) |
intron |
probably benign |
|
|
IGL01651:Igdcc4
|
APN |
9 |
65,031,394 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01751:Igdcc4
|
APN |
9 |
65,039,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02164:Igdcc4
|
APN |
9 |
65,032,064 (GRCm39) |
splice site |
probably benign |
|
|
IGL02468:Igdcc4
|
APN |
9 |
65,034,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02616:Igdcc4
|
APN |
9 |
65,040,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02685:Igdcc4
|
APN |
9 |
65,041,107 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02734:Igdcc4
|
APN |
9 |
65,038,738 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02893:Igdcc4
|
APN |
9 |
65,040,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Igdcc4
|
UTSW |
9 |
65,042,382 (GRCm39) |
splice site |
probably benign |
|
|
R0583:Igdcc4
|
UTSW |
9 |
65,029,095 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0939:Igdcc4
|
UTSW |
9 |
65,038,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1075:Igdcc4
|
UTSW |
9 |
65,038,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1110:Igdcc4
|
UTSW |
9 |
65,034,208 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1183:Igdcc4
|
UTSW |
9 |
65,029,182 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1318:Igdcc4
|
UTSW |
9 |
65,040,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1507:Igdcc4
|
UTSW |
9 |
65,041,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Igdcc4
|
UTSW |
9 |
65,042,509 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1640:Igdcc4
|
UTSW |
9 |
65,030,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Igdcc4
|
UTSW |
9 |
65,036,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Igdcc4
|
UTSW |
9 |
65,034,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Igdcc4
|
UTSW |
9 |
65,030,051 (GRCm39) |
missense |
probably benign |
|
|
R1996:Igdcc4
|
UTSW |
9 |
65,029,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Igdcc4
|
UTSW |
9 |
65,032,617 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2278:Igdcc4
|
UTSW |
9 |
65,038,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Igdcc4
|
UTSW |
9 |
65,039,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4011:Igdcc4
|
UTSW |
9 |
65,042,761 (GRCm39) |
missense |
probably benign |
|
|
R4077:Igdcc4
|
UTSW |
9 |
65,039,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4191:Igdcc4
|
UTSW |
9 |
65,031,433 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4293:Igdcc4
|
UTSW |
9 |
65,031,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4589:Igdcc4
|
UTSW |
9 |
65,037,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Igdcc4
|
UTSW |
9 |
65,031,297 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5093:Igdcc4
|
UTSW |
9 |
65,030,039 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5106:Igdcc4
|
UTSW |
9 |
65,031,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Igdcc4
|
UTSW |
9 |
65,036,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Igdcc4
|
UTSW |
9 |
65,041,828 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5810:Igdcc4
|
UTSW |
9 |
65,035,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Igdcc4
|
UTSW |
9 |
65,042,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Igdcc4
|
UTSW |
9 |
65,027,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Igdcc4
|
UTSW |
9 |
65,042,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6828:Igdcc4
|
UTSW |
9 |
65,029,979 (GRCm39) |
missense |
probably benign |
|
|
R6914:Igdcc4
|
UTSW |
9 |
65,027,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6942:Igdcc4
|
UTSW |
9 |
65,027,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7072:Igdcc4
|
UTSW |
9 |
65,038,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Igdcc4
|
UTSW |
9 |
65,042,750 (GRCm39) |
nonsense |
probably null |
|
|
R7448:Igdcc4
|
UTSW |
9 |
65,031,276 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7562:Igdcc4
|
UTSW |
9 |
65,031,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:Igdcc4
|
UTSW |
9 |
65,041,040 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7734:Igdcc4
|
UTSW |
9 |
65,039,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7807:Igdcc4
|
UTSW |
9 |
65,041,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7852:Igdcc4
|
UTSW |
9 |
65,027,540 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7904:Igdcc4
|
UTSW |
9 |
65,041,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8133:Igdcc4
|
UTSW |
9 |
65,039,023 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8147:Igdcc4
|
UTSW |
9 |
65,031,253 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8230:Igdcc4
|
UTSW |
9 |
65,030,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Igdcc4
|
UTSW |
9 |
65,031,298 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8846:Igdcc4
|
UTSW |
9 |
65,037,898 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9250:Igdcc4
|
UTSW |
9 |
65,038,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9613:Igdcc4
|
UTSW |
9 |
65,027,522 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9681:Igdcc4
|
UTSW |
9 |
65,041,858 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCCACGGAGTGGATATGGATG -3'
(R):5'- AGTAGCTTCAGCCTCCAATCCCAG -3'
Sequencing Primer
(F):5'- CTGACCGTGAGTATCCACTG -3'
(R):5'- TCCCAGAGACCCTTGGAAC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation