Incidental Mutation 'R9681:Igdcc4'
| ID |
728568 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R9681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65041858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1095
(L1095Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035499
AA Change: L1095Q
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: L1095Q
| 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: L1141Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: L1141Q
| 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: L83Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132576
Gene: ENSMUSG00000032816
AA Change: L83Q
| 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 |
possibly damaging
Transcript: ENSMUST00000213533
AA Change: L1094Q
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
A |
G |
6: 72,324,450 (GRCm39) |
D20G |
probably damaging |
Het |
| Acbd3 |
T |
A |
1: 180,566,082 (GRCm39) |
Y258* |
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,498 (GRCm39) |
H34L |
|
Het |
| Ankmy1 |
G |
T |
1: 92,813,882 (GRCm39) |
N432K |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,143,893 (GRCm39) |
M966T |
possibly damaging |
Het |
| Ark2n |
A |
T |
18: 77,722,989 (GRCm39) |
V349D |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,023,662 (GRCm39) |
T83A |
probably benign |
Het |
| Cdk1 |
T |
A |
10: 69,178,449 (GRCm39) |
D137V |
possibly damaging |
Het |
| Cfap299 |
T |
A |
5: 98,477,214 (GRCm39) |
M1K |
probably null |
Het |
| Chia1 |
A |
G |
3: 106,037,996 (GRCm39) |
Y326C |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,260,974 (GRCm39) |
D295G |
possibly damaging |
Het |
| Clrn1 |
C |
T |
3: 58,792,251 (GRCm39) |
V71I |
probably benign |
Het |
| Cr1l |
T |
C |
1: 194,800,149 (GRCm39) |
D175G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,268,067 (GRCm39) |
V87E |
probably damaging |
Het |
| Cyp2b19 |
T |
A |
7: 26,466,328 (GRCm39) |
L377Q |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,125,679 (GRCm39) |
V243D |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,562,414 (GRCm39) |
V2658A |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,677,611 (GRCm39) |
M437L |
probably benign |
Het |
| Flrt2 |
T |
A |
12: 95,745,425 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,880 (GRCm39) |
C80* |
probably null |
Het |
| Gpr158 |
A |
G |
2: 21,831,315 (GRCm39) |
E805G |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,479,473 (GRCm39) |
E134G |
probably benign |
Het |
| Hdac11 |
T |
A |
6: 91,150,068 (GRCm39) |
V289D |
probably benign |
Het |
| Hsdl1 |
T |
C |
8: 120,293,081 (GRCm39) |
E118G |
possibly damaging |
Het |
| Ildr1 |
T |
A |
16: 36,528,749 (GRCm39) |
C65S |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
| Itsn2 |
G |
T |
12: 4,683,499 (GRCm39) |
V341F |
unknown |
Het |
| Jak1 |
G |
A |
4: 101,019,085 (GRCm39) |
R723C |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,345,903 (GRCm39) |
C561S |
possibly damaging |
Het |
| Map3k19 |
A |
G |
1: 127,750,097 (GRCm39) |
F1085L |
possibly damaging |
Het |
| Mcm7 |
A |
T |
5: 138,164,220 (GRCm39) |
Y600* |
probably null |
Het |
| Mecom |
A |
T |
3: 30,033,803 (GRCm39) |
D300E |
probably benign |
Het |
| Mfap4 |
T |
A |
11: 61,376,925 (GRCm39) |
Y51* |
probably null |
Het |
| Mug1 |
T |
A |
6: 121,833,254 (GRCm39) |
N286K |
probably benign |
Het |
| Myl2 |
A |
T |
5: 122,240,783 (GRCm39) |
R40* |
probably null |
Het |
| Nom1 |
A |
G |
5: 29,642,623 (GRCm39) |
S375G |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,598,133 (GRCm39) |
P368Q |
probably null |
Het |
| Oca2 |
G |
C |
7: 55,943,623 (GRCm39) |
Q265H |
probably null |
Het |
| Or52a20 |
T |
A |
7: 103,366,475 (GRCm39) |
F225I |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or5k8 |
T |
A |
16: 58,644,176 (GRCm39) |
N299Y |
possibly damaging |
Het |
| Or6c88 |
A |
T |
10: 129,406,664 (GRCm39) |
T47S |
probably damaging |
Het |
| Or7a41 |
G |
A |
10: 78,871,577 (GRCm39) |
D316N |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,717,120 (GRCm39) |
E459G |
probably benign |
Het |
| Pde1a |
G |
T |
2: 79,695,465 (GRCm39) |
A494D |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,808,587 (GRCm39) |
Y428C |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,254,391 (GRCm39) |
F59L |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,258,950 (GRCm39) |
V980A |
possibly damaging |
Het |
| Polb |
T |
C |
8: 23,118,346 (GRCm39) |
D318G |
possibly damaging |
Het |
| Rasgef1c |
T |
A |
11: 49,861,040 (GRCm39) |
M335K |
probably damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,849,687 (GRCm39) |
S651P |
probably benign |
Het |
| Robo3 |
A |
C |
9: 37,334,558 (GRCm39) |
I624S |
possibly damaging |
Het |
| Robo3 |
T |
A |
9: 37,339,087 (GRCm39) |
H290L |
probably benign |
Het |
| Rps6kl1 |
T |
C |
12: 85,183,599 (GRCm39) |
H482R |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,681,691 (GRCm39) |
E168V |
probably benign |
Het |
| Slc3a2 |
T |
C |
19: 8,691,226 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,102,723 (GRCm39) |
K54* |
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,988,258 (GRCm39) |
L483P |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,084,959 (GRCm39) |
N1793I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,612,723 (GRCm39) |
I17119V |
possibly damaging |
Het |
| Tulp4 |
T |
C |
17: 6,274,500 (GRCm39) |
L617P |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,625,083 (GRCm39) |
N542S |
possibly damaging |
Het |
| Vmn1r151 |
T |
A |
7: 22,198,368 (GRCm39) |
T246S |
probably damaging |
Het |
| Vmn1r57 |
T |
A |
7: 5,224,069 (GRCm39) |
V198E |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,598,889 (GRCm39) |
Q191L |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,403,356 (GRCm39) |
T39M |
possibly damaging |
Het |
| Zc3h3 |
C |
A |
15: 75,681,470 (GRCm39) |
R537L |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,793,680 (GRCm39) |
V22E |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,493,112 (GRCm39) |
L218P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGATAACAGGGGTCCAC -3'
(R):5'- CTTAGGACCAGGTAAAGAAGCTC -3'
Sequencing Primer
(F):5'- TAACAGGGGTCCACAGGTCTG -3'
(R):5'- TCCCCTTTGGAAGCTACAAGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation