Incidental Mutation 'R5810:Igdcc4'
| ID |
447473 |
| 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 |
043395-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R5810 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65035977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 751
(T751A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035499
AA Change: T705A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: T705A
| 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: T751A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: T751A
| 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: T704A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Meta Mutation Damage Score |
0.6709 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,079,631 (GRCm39) |
F866L |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
| Actl11 |
C |
T |
9: 107,806,420 (GRCm39) |
P248S |
probably benign |
Het |
| Actr3 |
A |
G |
1: 125,344,116 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,974,500 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bpifa5 |
G |
A |
2: 154,005,638 (GRCm39) |
|
probably null |
Het |
| Car13 |
A |
C |
3: 14,706,828 (GRCm39) |
|
probably null |
Het |
| Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
| Cnnm3 |
A |
G |
1: 36,564,280 (GRCm39) |
E704G |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,125,072 (GRCm39) |
I450F |
possibly damaging |
Het |
| Ddhd1 |
G |
T |
14: 45,840,164 (GRCm39) |
T710N |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,465,422 (GRCm39) |
Q1360* |
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,196,322 (GRCm39) |
V1625A |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,222,121 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
G |
T |
10: 118,696,245 (GRCm39) |
H338N |
probably benign |
Het |
| Epb41l1 |
A |
T |
2: 156,341,575 (GRCm39) |
I187F |
probably damaging |
Het |
| Esd |
A |
G |
14: 74,983,051 (GRCm39) |
D221G |
probably damaging |
Het |
| Fam53b |
T |
A |
7: 132,361,893 (GRCm39) |
N45I |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,248,098 (GRCm39) |
D1006E |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,818,894 (GRCm39) |
V232A |
probably damaging |
Het |
| Gm28308 |
C |
A |
6: 52,190,196 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 34,994,796 (GRCm39) |
A490V |
probably benign |
Het |
| Hoxa7 |
T |
C |
6: 52,193,004 (GRCm39) |
D128G |
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,226,492 (GRCm39) |
L2394F |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,738,063 (GRCm39) |
|
probably null |
Het |
| Il17re |
C |
T |
6: 113,446,557 (GRCm39) |
A436V |
probably damaging |
Het |
| Krtap19-2 |
T |
C |
16: 88,671,124 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
A |
T |
4: 92,079,820 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
T |
C |
19: 7,584,085 (GRCm39) |
D4G |
probably benign |
Het |
| Liph |
A |
T |
16: 21,786,860 (GRCm39) |
L252Q |
probably damaging |
Het |
| Mtg1 |
T |
A |
7: 139,725,898 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
G |
5: 112,982,316 (GRCm39) |
L1139P |
probably damaging |
Het |
| Ninl |
T |
C |
2: 150,792,088 (GRCm39) |
R812G |
probably benign |
Het |
| Npm3 |
A |
G |
19: 45,736,644 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or1e22 |
G |
T |
11: 73,376,921 (GRCm39) |
S243* |
probably null |
Het |
| Osbpl9 |
A |
G |
4: 108,943,571 (GRCm39) |
V231A |
probably benign |
Het |
| Pgam2 |
T |
C |
11: 5,753,417 (GRCm39) |
H91R |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,270,897 (GRCm39) |
W3219R |
probably benign |
Het |
| Procr |
A |
G |
2: 155,593,327 (GRCm39) |
K4E |
possibly damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,471,314 (GRCm39) |
T495I |
possibly damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,601,222 (GRCm39) |
K425E |
probably damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,003,598 (GRCm39) |
C500S |
probably damaging |
Het |
| Snrpd2 |
G |
T |
7: 18,886,447 (GRCm39) |
V77F |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,593,006 (GRCm39) |
G145D |
probably benign |
Het |
| Spg7 |
G |
A |
8: 123,821,308 (GRCm39) |
E678K |
possibly damaging |
Het |
| Ssh1 |
T |
C |
5: 114,084,627 (GRCm39) |
K538E |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,460,832 (GRCm39) |
R3356W |
probably benign |
Het |
| Stx1a |
G |
T |
5: 135,077,932 (GRCm39) |
V255F |
probably damaging |
Het |
| Tbc1d13 |
C |
A |
2: 30,032,380 (GRCm39) |
Q164K |
probably benign |
Het |
| Tfpi |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
2: 84,264,768 (GRCm39) |
|
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,518,968 (GRCm39) |
|
probably benign |
Het |
| Triobp |
T |
C |
15: 78,852,467 (GRCm39) |
C874R |
probably benign |
Het |
| Tymp |
T |
A |
15: 89,258,534 (GRCm39) |
H269L |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,597 (GRCm39) |
Y71* |
probably null |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,804 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,815 (GRCm39) |
C589S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,643,688 (GRCm39) |
T2063A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,775,510 (GRCm39) |
I217M |
probably damaging |
Het |
| Zfp322a |
A |
C |
13: 23,541,579 (GRCm39) |
Y54* |
probably null |
Het |
| Zswim9 |
A |
T |
7: 12,994,662 (GRCm39) |
V498D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGATGGAGTCCCTGGTGG -3'
(R):5'- CGGCTTGCTGGCTGATAAAG -3'
Sequencing Primer
(F):5'- TGGTGTCATGGCAGCCG -3'
(R):5'- GCTTGCTGGCTGATAAAGAAAAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation