Incidental Mutation 'R3085:Igdcc4'
| ID |
265588 |
| 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 |
040574-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R3085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65039340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 947
(F947S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035499
AA Change: F947S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: F947S
| 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 |
possibly damaging
Transcript: ENSMUST00000077696
AA Change: F993S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: F993S
| 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 benign
Transcript: ENSMUST00000213533
AA Change: F946S
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,270,536 (GRCm39) |
|
probably benign |
Het |
| Adrm1 |
T |
C |
2: 179,816,094 (GRCm39) |
|
probably null |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,813 (GRCm39) |
I76V |
probably benign |
Het |
| Atp1b2 |
T |
C |
11: 69,493,705 (GRCm39) |
K125E |
possibly damaging |
Het |
| Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,923,018 (GRCm39) |
T293A |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,185,476 (GRCm39) |
V345D |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,628,979 (GRCm39) |
E131G |
unknown |
Het |
| Col4a4 |
C |
T |
1: 82,507,285 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
G |
T |
2: 91,825,789 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,341,445 (GRCm39) |
D601G |
probably benign |
Het |
| Dipk1a |
G |
T |
5: 108,062,290 (GRCm39) |
D28E |
probably damaging |
Het |
| Dnaaf4 |
T |
A |
9: 72,879,688 (GRCm39) |
N289K |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,759,332 (GRCm39) |
E807G |
probably damaging |
Het |
| Exog |
C |
A |
9: 119,291,518 (GRCm39) |
T241K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,344,314 (GRCm39) |
D109G |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,142,997 (GRCm39) |
R4284H |
possibly damaging |
Het |
| Fbxw13 |
C |
A |
9: 109,013,299 (GRCm39) |
G130* |
probably null |
Het |
| Fcrl5 |
A |
G |
3: 87,353,771 (GRCm39) |
Y372C |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,835,526 (GRCm39) |
S435P |
probably damaging |
Het |
| Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
| Havcr1 |
C |
T |
11: 46,647,052 (GRCm39) |
T162I |
probably damaging |
Het |
| Irx1 |
G |
T |
13: 72,111,411 (GRCm39) |
A66E |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
| Kynu |
A |
G |
2: 43,492,312 (GRCm39) |
M190V |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,297,479 (GRCm39) |
T3161A |
probably benign |
Het |
| Macrod1 |
G |
T |
19: 7,173,859 (GRCm39) |
A208S |
probably damaging |
Het |
| Mamdc2 |
G |
A |
19: 23,288,296 (GRCm39) |
H581Y |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
| Mthfd1l |
G |
A |
10: 4,040,007 (GRCm39) |
R806H |
probably benign |
Het |
| Nags |
T |
A |
11: 102,036,810 (GRCm39) |
V133D |
probably damaging |
Het |
| Nrg3 |
C |
A |
14: 38,092,906 (GRCm39) |
D560Y |
probably damaging |
Het |
| Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
| Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
| Or4p23 |
A |
G |
2: 88,576,488 (GRCm39) |
F248S |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,708,553 (GRCm39) |
S240P |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,475,248 (GRCm39) |
|
probably null |
Het |
| Plekhf1 |
T |
C |
7: 37,921,001 (GRCm39) |
E189G |
probably benign |
Het |
| Ppm1b |
A |
T |
17: 85,321,288 (GRCm39) |
I477L |
probably benign |
Het |
| Rad51ap2 |
C |
A |
12: 11,506,758 (GRCm39) |
Q227K |
possibly damaging |
Het |
| Rnf125 |
T |
C |
18: 21,110,787 (GRCm39) |
V15A |
probably benign |
Het |
| Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,798,898 (GRCm39) |
I953V |
possibly damaging |
Het |
| Sash1 |
A |
T |
10: 8,618,186 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
T |
C |
10: 128,324,028 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,584,672 (GRCm39) |
E224V |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,221,356 (GRCm39) |
V357A |
probably benign |
Het |
| Synpo2l |
T |
C |
14: 20,712,248 (GRCm39) |
D350G |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,064,913 (GRCm39) |
N1448Y |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,273,227 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Tmem40 |
T |
C |
6: 115,718,576 (GRCm39) |
D43G |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,725,871 (GRCm39) |
C156S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,081 (GRCm39) |
M419V |
probably benign |
Het |
| Wdr73 |
G |
A |
7: 80,550,990 (GRCm39) |
|
probably benign |
Het |
| Zc3hc1 |
C |
T |
6: 30,374,763 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,682,664 (GRCm39) |
Y3368H |
unknown |
Het |
| Zfp263 |
G |
A |
16: 3,567,580 (GRCm39) |
E632K |
probably damaging |
Het |
| Zfp266 |
A |
G |
9: 20,412,240 (GRCm39) |
L111P |
probably damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,587 (GRCm39) |
S189R |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,206,699 (GRCm39) |
R331G |
possibly damaging |
Het |
| Zkscan5 |
G |
A |
5: 145,157,889 (GRCm39) |
C797Y |
probably damaging |
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 |
|
R1687:Igdcc4
|
UTSW |
9 |
65,038,945 (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 |
|
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'- CAAAGTTGGTTTGCCCATGG -3'
(R):5'- CCTTCGCATATGCACTGTGC -3'
Sequencing Primer
(F):5'- GCCCATGGTGCTTTGGC -3'
(R):5'- TTCGCATATGCACTGTGCCAAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation