Incidental Mutation 'R7072:Igdcc4'
| ID |
548969 |
| 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 |
045168-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R7072 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 65038013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 798
(V798G)
|
| 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: V798G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: V798G
| 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: V844G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: V844G
| 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 |
probably damaging
Transcript: ENSMUST00000213533
AA Change: V797G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (73/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,592 (GRCm39) |
L2214Q |
probably damaging |
Het |
| Acbd3 |
T |
C |
1: 180,553,934 (GRCm39) |
F90L |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,751,786 (GRCm39) |
Q23L |
|
Het |
| Anpep |
A |
T |
7: 79,485,127 (GRCm39) |
L620I |
possibly damaging |
Het |
| Bpi |
T |
C |
2: 158,113,998 (GRCm39) |
S299P |
probably damaging |
Het |
| Bpifa2 |
A |
G |
2: 153,853,293 (GRCm39) |
D132G |
probably damaging |
Het |
| Brd7 |
T |
A |
8: 89,073,615 (GRCm39) |
E258D |
probably benign |
Het |
| Btc |
T |
C |
5: 91,550,796 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
A |
G |
6: 118,573,067 (GRCm39) |
V2039A |
|
Het |
| Calm4 |
T |
A |
13: 3,888,275 (GRCm39) |
V127E |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,644,766 (GRCm39) |
S1280T |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,748,803 (GRCm39) |
V80A |
unknown |
Het |
| Ccdc33 |
A |
G |
9: 58,019,267 (GRCm39) |
*279R |
probably null |
Het |
| Cercam |
T |
A |
2: 29,771,936 (GRCm39) |
H585Q |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,429,296 (GRCm39) |
D138G |
probably benign |
Het |
| Cox4i2 |
T |
C |
2: 152,602,573 (GRCm39) |
F89S |
probably damaging |
Het |
| Crb1 |
G |
A |
1: 139,165,013 (GRCm39) |
T1098I |
probably damaging |
Het |
| Csnk1e |
C |
T |
15: 79,322,967 (GRCm39) |
|
probably null |
Het |
| Ctsj |
C |
A |
13: 61,150,897 (GRCm39) |
E187* |
probably null |
Het |
| Dagla |
A |
T |
19: 10,233,659 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
G |
A |
1: 53,458,912 (GRCm39) |
T3742I |
probably benign |
Het |
| Dnajc6 |
A |
C |
4: 101,472,812 (GRCm39) |
H381P |
probably damaging |
Het |
| Dyrk3 |
A |
T |
1: 131,057,465 (GRCm39) |
L236Q |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
| Frmd5 |
A |
T |
2: 121,388,351 (GRCm39) |
L241Q |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,106,749 (GRCm39) |
T662A |
probably benign |
Het |
| Gins1 |
C |
T |
2: 150,751,671 (GRCm39) |
|
probably null |
Het |
| Gli3 |
T |
A |
13: 15,900,280 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Gm4302 |
G |
T |
10: 100,177,521 (GRCm39) |
Q268H |
unknown |
Het |
| Grin2d |
A |
T |
7: 45,506,922 (GRCm39) |
W518R |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,723,512 (GRCm39) |
I601F |
probably damaging |
Het |
| Gtpbp10 |
A |
T |
5: 5,596,365 (GRCm39) |
N193K |
probably benign |
Het |
| Igkv8-19 |
A |
T |
6: 70,318,396 (GRCm39) |
F13I |
probably benign |
Het |
| Kctd11 |
T |
A |
11: 69,770,621 (GRCm39) |
N139I |
probably benign |
Het |
| Lmo7 |
G |
A |
14: 102,136,136 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
T |
15: 91,686,123 (GRCm39) |
M2155L |
probably benign |
Het |
| Ly6g6g |
C |
T |
15: 74,644,119 (GRCm39) |
V66M |
|
Het |
| Mettl24 |
A |
C |
10: 40,559,509 (GRCm39) |
H53P |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,376,133 (GRCm39) |
M264T |
unknown |
Het |
| Mplkip |
T |
C |
13: 17,870,122 (GRCm39) |
I18T |
unknown |
Het |
| Mtmr2 |
T |
C |
9: 13,699,916 (GRCm39) |
V101A |
probably benign |
Het |
| Nbeal2 |
G |
T |
9: 110,455,119 (GRCm39) |
T2593K |
probably benign |
Het |
| Neu3 |
A |
T |
7: 99,463,404 (GRCm39) |
C106* |
probably null |
Het |
| Nutm1 |
T |
C |
2: 112,082,192 (GRCm39) |
T295A |
probably benign |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,481,269 (GRCm39) |
I90T |
probably benign |
Het |
| Pcdhga7 |
G |
T |
18: 37,850,329 (GRCm39) |
V779L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,161,858 (GRCm39) |
E231G |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,316,574 (GRCm39) |
|
probably null |
Het |
| Pofut2 |
T |
C |
10: 77,095,263 (GRCm39) |
L36P |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,299,754 (GRCm39) |
N635S |
|
Het |
| Pramel14 |
A |
C |
4: 143,720,698 (GRCm39) |
I81R |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,395,350 (GRCm39) |
Y818H |
probably damaging |
Het |
| Rad18 |
T |
C |
6: 112,658,401 (GRCm39) |
E168G |
probably benign |
Het |
| Rev1 |
C |
A |
1: 38,106,626 (GRCm39) |
E634* |
probably null |
Het |
| Sec24d |
A |
G |
3: 123,124,000 (GRCm39) |
D403G |
probably damaging |
Het |
| Sema5a |
C |
A |
15: 32,575,105 (GRCm39) |
H404Q |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 43,994,370 (GRCm39) |
S844G |
unknown |
Het |
| Slc32a1 |
T |
A |
2: 158,453,416 (GRCm39) |
Y85* |
probably null |
Het |
| Slc39a4 |
T |
C |
15: 76,497,458 (GRCm39) |
T485A |
probably damaging |
Het |
| Sp5 |
A |
C |
2: 70,307,074 (GRCm39) |
Q253P |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,431,913 (GRCm39) |
D709V |
probably damaging |
Het |
| Sucnr1 |
A |
G |
3: 59,993,604 (GRCm39) |
Y44C |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,876 (GRCm39) |
L106P |
possibly damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,991,494 (GRCm39) |
D922G |
probably damaging |
Het |
| Tbx6 |
A |
T |
7: 126,383,912 (GRCm39) |
D322V |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,065,459 (GRCm39) |
S1630T |
possibly damaging |
Het |
| Ube2o |
G |
A |
11: 116,432,327 (GRCm39) |
P880S |
probably benign |
Het |
| Uck1 |
C |
T |
2: 32,148,178 (GRCm39) |
R182Q |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,340,957 (GRCm39) |
H2840L |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,914,822 (GRCm39) |
I1909N |
unknown |
Het |
| Zfp352 |
C |
T |
4: 90,112,661 (GRCm39) |
T267I |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,874 (GRCm39) |
C241S |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,668,339 (GRCm39) |
D8G |
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 |
|
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 |
|
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'- CTGAGACCATGTACGTCCAC -3'
(R):5'- GACCACACATTCTGCCACTG -3'
Sequencing Primer
(F):5'- GAGACCATGTACGTCCACCTACTC -3'
(R):5'- ACACATTCTGCCACTGAGGGATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation