Incidental Mutation 'IGL01285:Igdcc4'
| ID |
72700 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igdcc4
|
| Ensembl Gene |
ENSMUSG00000032816 |
| Gene Name |
immunoglobulin superfamily, DCC subclass, member 4 |
| Synonyms |
WI-18508, Nope, 9330155G14Rik, WI-16786 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
IGL01285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65031273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 404
(C404R)
|
| 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: C404R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: C404R
| 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: C451R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: C451R
| 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: C404R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216542
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,271,610 (GRCm39) |
N599S |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,893 (GRCm39) |
*755Y |
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,132,868 (GRCm39) |
T1166K |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,149,275 (GRCm39) |
V862A |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,279,264 (GRCm39) |
A382V |
probably damaging |
Het |
| Asb18 |
A |
G |
1: 89,923,963 (GRCm39) |
V100A |
probably benign |
Het |
| Bdnf |
G |
A |
2: 109,553,931 (GRCm39) |
A102T |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
| Cfap47 |
A |
G |
X: 78,532,764 (GRCm39) |
I767T |
possibly damaging |
Het |
| Des |
G |
A |
1: 75,339,227 (GRCm39) |
A251T |
probably benign |
Het |
| Dmd |
C |
T |
X: 84,153,590 (GRCm39) |
Q3224* |
probably null |
Het |
| Endog |
G |
T |
2: 30,061,975 (GRCm39) |
|
probably null |
Het |
| Ggt7 |
A |
G |
2: 155,342,691 (GRCm39) |
V269A |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,686,739 (GRCm39) |
F808S |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,730,930 (GRCm39) |
T210A |
probably benign |
Het |
| Ifitm5 |
C |
A |
7: 140,530,076 (GRCm39) |
R16L |
probably benign |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Irf9 |
A |
G |
14: 55,845,058 (GRCm39) |
E258G |
probably damaging |
Het |
| Megf11 |
T |
C |
9: 64,567,728 (GRCm39) |
C406R |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,364 (GRCm39) |
N143S |
possibly damaging |
Het |
| Or4m1 |
A |
G |
14: 50,557,713 (GRCm39) |
F193S |
possibly damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,711 (GRCm39) |
F102I |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,266 (GRCm39) |
D19G |
probably benign |
Het |
| Otof |
G |
T |
5: 30,562,527 (GRCm39) |
Q254K |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,044 (GRCm39) |
N65K |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 102,968,696 (GRCm39) |
F332L |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,635,230 (GRCm39) |
D1332G |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,634,130 (GRCm39) |
D521V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,575,143 (GRCm39) |
V417D |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,044,000 (GRCm39) |
R877Q |
probably benign |
Het |
| Shroom2 |
A |
T |
X: 151,442,353 (GRCm39) |
D937E |
probably damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,488,262 (GRCm39) |
S142P |
probably damaging |
Het |
| Srpx |
A |
T |
X: 9,905,298 (GRCm39) |
V398E |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,560,653 (GRCm39) |
K669N |
possibly damaging |
Het |
| Sumf2 |
A |
G |
5: 129,878,811 (GRCm39) |
D49G |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,424,721 (GRCm39) |
E370D |
probably damaging |
Het |
| Tas2r115 |
G |
T |
6: 132,714,641 (GRCm39) |
S103R |
probably damaging |
Het |
| Top2a |
G |
A |
11: 98,896,985 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,550,842 (GRCm39) |
T23190S |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,615,167 (GRCm39) |
C407F |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,169,370 (GRCm39) |
H587N |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,692 (GRCm39) |
I218T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,462,954 (GRCm39) |
N60S |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,956,979 (GRCm39) |
S877P |
probably damaging |
Het |
| Zfp979 |
G |
T |
4: 147,699,853 (GRCm39) |
T29N |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,880,615 (GRCm39) |
R390C |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation