Incidental Mutation 'R7807:Igdcc4'
| ID |
600873 |
| 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 |
045862-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R7807 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65041077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1036
(V1036A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035499
AA Change: V1036A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: V1036A
| 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 benign
Transcript: ENSMUST00000077696
AA Change: V1082A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: V1082A
| 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 benign
Transcript: ENSMUST00000213533
AA Change: V1035A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
C |
A |
9: 21,447,276 (GRCm39) |
T146K |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,599,958 (GRCm39) |
S1595T |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,831,635 (GRCm39) |
I56N |
probably damaging |
Het |
| Anln |
C |
A |
9: 22,272,176 (GRCm39) |
V648F |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,807,981 (GRCm39) |
D1053G |
probably benign |
Het |
| Baalc |
T |
C |
15: 38,797,412 (GRCm39) |
S68P |
probably benign |
Het |
| Begain |
T |
C |
12: 109,004,856 (GRCm39) |
D52G |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,837,040 (GRCm39) |
I41V |
probably benign |
Het |
| Bpifc |
T |
A |
10: 85,812,114 (GRCm39) |
I365F |
possibly damaging |
Het |
| C2 |
G |
T |
17: 35,095,347 (GRCm39) |
S199R |
possibly damaging |
Het |
| Ccbe1 |
T |
A |
18: 66,199,828 (GRCm39) |
H298L |
probably damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,423,826 (GRCm39) |
K304I |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,226,678 (GRCm39) |
E432G |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,010,594 (GRCm39) |
M1K |
probably null |
Het |
| Cipc |
T |
C |
12: 87,008,899 (GRCm39) |
S253P |
possibly damaging |
Het |
| Clcn1 |
A |
G |
6: 42,287,282 (GRCm39) |
|
probably null |
Het |
| Clock |
A |
T |
5: 76,390,982 (GRCm39) |
N273K |
probably benign |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,126 (GRCm39) |
D476G |
probably benign |
Het |
| Dnaaf9 |
T |
C |
2: 130,552,785 (GRCm39) |
K1092E |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,253,527 (GRCm39) |
I1811V |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,495,010 (GRCm39) |
T4091K |
probably damaging |
Het |
| Gm10340 |
T |
A |
14: 14,826,724 (GRCm39) |
N64K |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,792,171 (GRCm39) |
R2523C |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,782,009 (GRCm39) |
H244R |
probably damaging |
Het |
| Hgs |
G |
T |
11: 120,370,760 (GRCm39) |
A567S |
probably damaging |
Het |
| Keg1 |
G |
A |
19: 12,691,998 (GRCm39) |
|
probably null |
Het |
| Klhl8 |
A |
T |
5: 104,023,932 (GRCm39) |
L156Q |
probably damaging |
Het |
| Lmln |
T |
C |
16: 32,927,501 (GRCm39) |
Y521H |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,866,124 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,074,541 (GRCm39) |
I550F |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,971,753 (GRCm39) |
W28* |
probably null |
Het |
| Mfsd11 |
T |
G |
11: 116,754,733 (GRCm39) |
S215A |
probably benign |
Het |
| Mpped2 |
C |
A |
2: 106,575,085 (GRCm39) |
H57N |
possibly damaging |
Het |
| Mslnl |
A |
G |
17: 25,965,751 (GRCm39) |
M542V |
probably benign |
Het |
| Myh6 |
G |
T |
14: 55,179,897 (GRCm39) |
H1903Q |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,897,777 (GRCm39) |
T60A |
probably benign |
Het |
| Npm2 |
T |
A |
14: 70,889,947 (GRCm39) |
|
probably null |
Het |
| Or5b123 |
C |
A |
19: 13,597,285 (GRCm39) |
T210K |
probably damaging |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,931,909 (GRCm39) |
S141G |
probably benign |
Het |
| Or7a39 |
T |
A |
10: 78,715,043 (GRCm39) |
S12R |
probably benign |
Het |
| Pax9 |
A |
T |
12: 56,743,850 (GRCm39) |
I166F |
possibly damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,321,092 (GRCm39) |
S6P |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,309,101 (GRCm39) |
Y1893C |
probably damaging |
Het |
| Pirb |
T |
C |
7: 3,722,864 (GRCm39) |
T43A |
possibly damaging |
Het |
| Pou3f1 |
A |
G |
4: 124,552,074 (GRCm39) |
D192G |
possibly damaging |
Het |
| Pus3 |
C |
G |
9: 35,478,021 (GRCm39) |
R418G |
probably damaging |
Het |
| Rexo1 |
C |
T |
10: 80,385,970 (GRCm39) |
V363I |
probably benign |
Het |
| Sdcbp |
A |
G |
4: 6,393,688 (GRCm39) |
T269A |
probably damaging |
Het |
| Sele |
T |
C |
1: 163,881,462 (GRCm39) |
V523A |
probably benign |
Het |
| Serpinb8 |
T |
A |
1: 107,532,457 (GRCm39) |
M183K |
probably damaging |
Het |
| Sh2d4a |
T |
G |
8: 68,735,033 (GRCm39) |
S51A |
probably benign |
Het |
| Siglec15 |
A |
G |
18: 78,090,696 (GRCm39) |
S201P |
probably damaging |
Het |
| Slc10a5 |
C |
T |
3: 10,400,529 (GRCm39) |
V44I |
probably benign |
Het |
| Slc16a13 |
A |
G |
11: 70,111,388 (GRCm39) |
V39A |
probably damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,117,164 (GRCm39) |
R184W |
probably damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,512,278 (GRCm39) |
D359E |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,371,371 (GRCm39) |
E641G |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,194,823 (GRCm39) |
D834G |
probably damaging |
Het |
| Spata31f1e |
A |
C |
4: 42,793,885 (GRCm39) |
H82Q |
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,076,348 (GRCm39) |
I433T |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,057,444 (GRCm39) |
I418K |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,758,480 (GRCm39) |
N747S |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,302 (GRCm39) |
T711A |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,807,220 (GRCm39) |
I988T |
probably benign |
Het |
| Ttc41 |
T |
A |
10: 86,612,495 (GRCm39) |
I1256N |
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,862,638 (GRCm39) |
D100G |
possibly damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,847,219 (GRCm39) |
I89T |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,521,910 (GRCm39) |
Y62F |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,060,855 (GRCm39) |
Q428* |
probably null |
Het |
| Zcrb1 |
T |
C |
15: 93,289,002 (GRCm39) |
D88G |
probably damaging |
Het |
| Zmym1 |
A |
C |
4: 126,941,667 (GRCm39) |
I907S |
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 |
|
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'- CGAGTGGACTTGTATTCCTTCC -3'
(R):5'- CTCACCGTCAGAAGTTGTGC -3'
Sequencing Primer
(F):5'- GTTTGATTGCACCACACCAGG -3'
(R):5'- ACCGTCAGAAGTTGTGCTCTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation