Incidental Mutation 'R1183:Igdcc4'
| ID |
101772 |
| 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 |
039255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R1183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65029182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 273
(F273S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035499
AA Change: F273S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: F273S
| 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: F273S
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: F273S
| 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: F273S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216542
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,768,206 (GRCm39) |
Y192* |
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,634,677 (GRCm39) |
Y1100C |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,974,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,416 (GRCm39) |
V497E |
probably damaging |
Het |
| Adtrp |
T |
G |
13: 41,981,813 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,700,833 (GRCm39) |
L201Q |
possibly damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,856,121 (GRCm39) |
I84K |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,725 (GRCm39) |
S288P |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,949,452 (GRCm39) |
L366Q |
possibly damaging |
Het |
| Cacna1a |
A |
G |
8: 85,306,846 (GRCm39) |
D1367G |
probably damaging |
Het |
| Card19 |
C |
T |
13: 49,358,727 (GRCm39) |
R82Q |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,292,372 (GRCm39) |
I226V |
possibly damaging |
Het |
| Ces1f |
A |
C |
8: 93,994,633 (GRCm39) |
D259E |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,416,611 (GRCm39) |
M1072K |
probably benign |
Het |
| Dcpp2 |
T |
A |
17: 24,119,468 (GRCm39) |
V94D |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,474 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,416,255 (GRCm39) |
T719A |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,375,716 (GRCm39) |
W1167* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,758,305 (GRCm39) |
I1874V |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,003,926 (GRCm39) |
T645A |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,837,621 (GRCm39) |
L222S |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,191,731 (GRCm39) |
C495S |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,163,537 (GRCm39) |
D2106E |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,913,936 (GRCm39) |
N65I |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,755,763 (GRCm39) |
Y497H |
probably damaging |
Het |
| Fn1 |
A |
C |
1: 71,625,404 (GRCm39) |
D2376E |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,764,662 (GRCm39) |
T453A |
possibly damaging |
Het |
| Galnt1 |
G |
T |
18: 24,404,647 (GRCm39) |
W328L |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,372 (GRCm39) |
V97A |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,693,707 (GRCm39) |
V154A |
possibly damaging |
Het |
| Gdf15 |
A |
G |
8: 71,084,202 (GRCm39) |
F21L |
probably benign |
Het |
| Invs |
A |
T |
4: 48,421,725 (GRCm39) |
R786W |
possibly damaging |
Het |
| Itfg1 |
T |
G |
8: 86,507,152 (GRCm39) |
E236A |
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,137,194 (GRCm39) |
I752F |
probably damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,306,985 (GRCm39) |
G144W |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,109,598 (GRCm39) |
H925R |
probably benign |
Het |
| Kdr |
C |
T |
5: 76,107,511 (GRCm39) |
A1011T |
probably damaging |
Het |
| Kif13b |
C |
A |
14: 65,019,826 (GRCm39) |
H1398Q |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,307,864 (GRCm39) |
|
probably null |
Het |
| Lrtm2 |
T |
C |
6: 119,297,846 (GRCm39) |
D65G |
probably benign |
Het |
| Lyz1 |
A |
G |
10: 117,128,715 (GRCm39) |
L10P |
probably damaging |
Het |
| Metap2 |
A |
T |
10: 93,706,046 (GRCm39) |
N245K |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,943,270 (GRCm39) |
D297G |
possibly damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,573 (GRCm39) |
D340G |
possibly damaging |
Het |
| Mtfr1l |
A |
G |
4: 134,256,436 (GRCm39) |
L243P |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,842,897 (GRCm39) |
I105T |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,748,571 (GRCm39) |
S1967P |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,100,585 (GRCm39) |
N2248S |
possibly damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,432,008 (GRCm39) |
D35G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,067,252 (GRCm39) |
M764K |
probably benign |
Het |
| Or10a3n |
A |
G |
7: 108,492,948 (GRCm39) |
L222P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,529,256 (GRCm39) |
S1753G |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,939,179 (GRCm39) |
V2070I |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,219,824 (GRCm39) |
V961A |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,103,158 (GRCm39) |
S169L |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,335 (GRCm39) |
S542T |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,381,156 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,731 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,647 (GRCm39) |
L71F |
probably benign |
Het |
| Ramp3 |
A |
G |
11: 6,624,867 (GRCm39) |
K54E |
possibly damaging |
Het |
| Rbpms |
C |
A |
8: 34,294,100 (GRCm39) |
Q214H |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
A |
9: 37,319,348 (GRCm39) |
D565E |
probably damaging |
Het |
| S100a1 |
C |
T |
3: 90,418,641 (GRCm39) |
V58I |
probably benign |
Het |
| Setx |
T |
A |
2: 29,070,104 (GRCm39) |
D2636E |
probably benign |
Het |
| Sun2 |
A |
T |
15: 79,612,669 (GRCm39) |
V417E |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,660,519 (GRCm39) |
N99S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,064,893 (GRCm39) |
D1441G |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,896 (GRCm39) |
M627K |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,628 (GRCm39) |
Y395C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,398 (GRCm39) |
Y1129H |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,275,813 (GRCm39) |
R470S |
probably damaging |
Het |
| Tsg101 |
G |
T |
7: 46,539,372 (GRCm39) |
D389E |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,406 (GRCm39) |
L46P |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 37,997,419 (GRCm39) |
I1745V |
possibly damaging |
Het |
| Usp20 |
T |
C |
2: 30,901,797 (GRCm39) |
Y521H |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,543,019 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,491 (GRCm39) |
E504D |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,086,867 (GRCm39) |
I612F |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,520 (GRCm39) |
H317R |
possibly damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,315 (GRCm39) |
S243G |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,419 (GRCm39) |
W73R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,819,632 (GRCm39) |
D90E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAATTGGCAAGCTAACCCTGTCC -3'
(R):5'- AACGATGGCTAAATGGTCTCTGGTG -3'
Sequencing Primer
(F):5'- CTATCTTCACTACAGGGTCTTTGG -3'
(R):5'- tctctgtctctctgtccctc -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation