Incidental Mutation 'IGL01152:Igdcc4'
| ID |
52022 |
| 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 # |
IGL01152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65042446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 121
(E121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035499
AA Change: E1133A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: E1133A
| 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: E1179A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: E1179A
| 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 damaging
Transcript: ENSMUST00000166273
AA Change: E121A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132576
Gene: ENSMUSG00000032816
AA Change: E121A
| 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: E1132A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
G |
1: 192,515,947 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
G |
A |
5: 9,000,678 (GRCm39) |
V1031M |
probably benign |
Het |
| Abcc4 |
A |
G |
14: 118,836,797 (GRCm39) |
S655P |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,245,820 (GRCm39) |
K121R |
probably damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,358,750 (GRCm39) |
R82* |
probably null |
Het |
| Arhgap31 |
T |
A |
16: 38,422,601 (GRCm39) |
H1155L |
possibly damaging |
Het |
| Atp8a1 |
G |
T |
5: 68,004,549 (GRCm39) |
P2Q |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,631,174 (GRCm39) |
M401V |
possibly damaging |
Het |
| Brca2 |
A |
T |
5: 150,465,855 (GRCm39) |
N1873I |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,789,757 (GRCm39) |
N764S |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Clk1 |
A |
T |
1: 58,452,611 (GRCm39) |
C359S |
possibly damaging |
Het |
| Clk2 |
T |
A |
3: 89,083,818 (GRCm39) |
F479I |
probably damaging |
Het |
| Cul4b |
T |
C |
X: 37,632,247 (GRCm39) |
M709V |
probably damaging |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,620 (GRCm39) |
|
probably null |
Het |
| Dgkb |
T |
A |
12: 38,134,233 (GRCm39) |
N46K |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,962,882 (GRCm39) |
R1811H |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,926 (GRCm39) |
N281S |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,915,405 (GRCm39) |
I654L |
probably benign |
Het |
| Gm9989 |
T |
G |
3: 81,829,518 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,228,237 (GRCm39) |
E1306G |
probably benign |
Het |
| Gsc |
C |
A |
12: 104,437,864 (GRCm39) |
K219N |
probably damaging |
Het |
| Gsx2 |
A |
T |
5: 75,236,452 (GRCm39) |
I11F |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,084,425 (GRCm39) |
R915H |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,200,984 (GRCm39) |
L64P |
probably damaging |
Het |
| Lztr1 |
C |
A |
16: 17,340,317 (GRCm39) |
Q136K |
probably damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,430 (GRCm39) |
W271R |
possibly damaging |
Het |
| Magoh |
A |
C |
4: 107,742,203 (GRCm39) |
|
probably benign |
Het |
| Matcap2 |
A |
T |
9: 22,346,460 (GRCm39) |
H356L |
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,234 (GRCm39) |
H171R |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,138,061 (GRCm39) |
T301K |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,410,959 (GRCm39) |
L868F |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,963,872 (GRCm39) |
D1152G |
possibly damaging |
Het |
| Or5p68 |
C |
T |
7: 107,946,156 (GRCm39) |
A11T |
probably benign |
Het |
| Or7d10 |
G |
A |
9: 19,832,245 (GRCm39) |
V247M |
possibly damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,893,488 (GRCm39) |
D420E |
possibly damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,094,121 (GRCm39) |
D350G |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,574,976 (GRCm39) |
N309Y |
probably damaging |
Het |
| Pim2 |
C |
A |
X: 7,744,661 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
G |
2: 134,655,579 (GRCm39) |
Y53C |
probably damaging |
Het |
| Pogk |
T |
C |
1: 166,236,047 (GRCm39) |
E18G |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,051,936 (GRCm39) |
D704E |
probably damaging |
Het |
| Rb1 |
C |
A |
14: 73,443,310 (GRCm39) |
S781I |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,621 (GRCm39) |
H247R |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,497,771 (GRCm39) |
F697I |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,273,675 (GRCm39) |
H1064N |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,478,831 (GRCm39) |
Y99H |
probably damaging |
Het |
| Slc36a2 |
T |
A |
11: 55,060,673 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
A |
C |
9: 109,968,693 (GRCm39) |
E130A |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,201,276 (GRCm39) |
M1273T |
probably benign |
Het |
| Tmem116 |
A |
G |
5: 121,601,862 (GRCm39) |
I21V |
probably benign |
Het |
| Tmem190 |
T |
C |
7: 4,787,025 (GRCm39) |
|
probably benign |
Het |
| Trim63 |
C |
T |
4: 134,052,987 (GRCm39) |
A316V |
probably benign |
Het |
| Ugt2b34 |
T |
C |
5: 87,049,062 (GRCm39) |
E321G |
probably damaging |
Het |
| Zfat |
T |
A |
15: 67,982,353 (GRCm39) |
R1053S |
probably damaging |
Het |
|
| Other mutations in Igdcc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation