Incidental Mutation 'R9250:Igdcc4'
| ID |
701494 |
| 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 |
068989-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R9250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65038932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 906
(T906A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035499
AA Change: T860A
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: T860A
| 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 |
possibly damaging
Transcript: ENSMUST00000077696
AA Change: T906A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: T906A
| 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 |
possibly damaging
Transcript: ENSMUST00000213533
AA Change: T859A
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Meta Mutation Damage Score |
0.0708 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
G |
3: 137,772,389 (GRCm39) |
A526G |
probably damaging |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,442,011 (GRCm39) |
I80K |
probably benign |
Het |
| Ablim3 |
A |
G |
18: 61,944,501 (GRCm39) |
L526P |
probably damaging |
Het |
| Aknad1 |
T |
C |
3: 108,664,143 (GRCm39) |
S369P |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,258,259 (GRCm39) |
S119P |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,054,788 (GRCm39) |
I1110T |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,101,398 (GRCm39) |
S419P |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Crim1 |
C |
T |
17: 78,677,471 (GRCm39) |
H891Y |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,638,919 (GRCm39) |
E269G |
probably benign |
Het |
| Ddt |
T |
C |
10: 75,609,063 (GRCm39) |
D32G |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,240,543 (GRCm39) |
D236G |
probably benign |
Het |
| Edem1 |
C |
A |
6: 108,805,850 (GRCm39) |
D50E |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,256,915 (GRCm39) |
N490K |
probably damaging |
Het |
| Fam117a |
C |
A |
11: 95,228,071 (GRCm39) |
D60E |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,330 (GRCm39) |
S305P |
unknown |
Het |
| Fbxw21 |
A |
G |
9: 108,972,846 (GRCm39) |
F363L |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,167,422 (GRCm39) |
C224R |
probably damaging |
Het |
| Gad1 |
T |
A |
2: 70,409,543 (GRCm39) |
N211K |
probably damaging |
Het |
| Igkv3-5 |
T |
C |
6: 70,640,758 (GRCm39) |
S80P |
probably benign |
Het |
| Igkv4-90 |
C |
A |
6: 68,784,331 (GRCm39) |
G62* |
probably null |
Het |
| Il31ra |
A |
T |
13: 112,669,508 (GRCm39) |
Y386N |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,928,909 (GRCm39) |
H1159N |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,759,683 (GRCm39) |
S722F |
possibly damaging |
Het |
| Mipep |
T |
C |
14: 61,028,358 (GRCm39) |
Y157H |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,461,169 (GRCm39) |
E293G |
probably damaging |
Het |
| Mmp7 |
A |
T |
9: 7,697,885 (GRCm39) |
|
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,013,325 (GRCm39) |
L84P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,168,913 (GRCm39) |
V1874A |
possibly damaging |
Het |
| Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,465,151 (GRCm39) |
M80T |
probably damaging |
Het |
| Nubp2 |
A |
G |
17: 25,103,373 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
C |
T |
7: 107,655,014 (GRCm39) |
T275M |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,278 (GRCm39) |
I41T |
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,718 (GRCm39) |
C240* |
probably null |
Het |
| Ovch2 |
C |
A |
7: 107,392,542 (GRCm39) |
R267L |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,447,687 (GRCm39) |
E741G |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,576,289 (GRCm39) |
T324S |
probably benign |
Het |
| Pxk |
T |
A |
14: 8,144,123 (GRCm38) |
H290Q |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,237,219 (GRCm39) |
T5N |
unknown |
Het |
| Rp9 |
G |
A |
9: 22,365,086 (GRCm39) |
Q124* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
A |
G |
17: 45,125,459 (GRCm39) |
L19P |
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,424,764 (GRCm39) |
P473L |
unknown |
Het |
| Slc9a2 |
C |
T |
1: 40,806,987 (GRCm39) |
T758I |
probably benign |
Het |
| Spef1l |
C |
A |
7: 139,556,395 (GRCm39) |
K197N |
probably benign |
Het |
| Tas2r105 |
T |
G |
6: 131,663,951 (GRCm39) |
H159P |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,633,954 (GRCm39) |
M12K |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,667,320 (GRCm39) |
Y614C |
probably benign |
Het |
| Trpv4 |
T |
C |
5: 114,764,941 (GRCm39) |
Y691C |
probably damaging |
Het |
| Unc93a |
A |
G |
17: 13,334,488 (GRCm39) |
V337A |
probably benign |
Het |
| Usp17le |
T |
G |
7: 104,418,839 (GRCm39) |
Q101P |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,449,793 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
T |
C |
9: 122,681,092 (GRCm39) |
S950G |
possibly damaging |
Het |
| Zfp644 |
T |
G |
5: 106,784,699 (GRCm39) |
D616A |
probably damaging |
Het |
| Zfp759 |
T |
G |
13: 67,288,461 (GRCm39) |
C671G |
probably damaging |
Het |
| Zgrf1 |
G |
T |
3: 127,379,797 (GRCm39) |
C1111F |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,732 (GRCm39) |
S349T |
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 |
|
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'- TTTGGCTCCGTCGTAGAACG -3'
(R):5'- GTAGCTTCAGCCTCCAATCC -3'
Sequencing Primer
(F):5'- TGACCGTGAGTATCCACTGC -3'
(R):5'- TCCAATCCCAGAGACCCTTGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation