Incidental Mutation 'R5093:Igdcc4'
ID |
387932 |
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 |
042682-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.294)
|
Stock # |
R5093 (G1)
|
Quality Score |
183 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 65030039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 363
(S363N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
AlphaFold |
Q9EQS9 |
Predicted Effect |
silent
Transcript: ENSMUST00000035499
|
SMART Domains |
Protein: ENSMUSP00000045387 Gene: ENSMUSG00000032816
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: S363N
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000076878 Gene: ENSMUSG00000032816 AA Change: S363N
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 |
silent
Transcript: ENSMUST00000213533
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216542
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
99% (90/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,610,573 (GRCm39) |
|
probably benign |
Het |
Abca9 |
A |
T |
11: 110,032,358 (GRCm39) |
L753Q |
probably damaging |
Het |
Acvrl1 |
A |
G |
15: 101,032,628 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,740,704 (GRCm39) |
N141K |
probably damaging |
Het |
Aftph |
C |
T |
11: 20,659,619 (GRCm39) |
|
probably null |
Het |
Aifm1 |
C |
T |
X: 47,571,637 (GRCm39) |
G371S |
probably benign |
Het |
Aldh3b2 |
A |
G |
19: 4,029,433 (GRCm39) |
M269V |
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,802,877 (GRCm39) |
Y207C |
probably damaging |
Het |
Arhgap15 |
G |
T |
2: 44,212,767 (GRCm39) |
M412I |
probably damaging |
Het |
Auts2 |
A |
C |
5: 131,468,296 (GRCm39) |
L783R |
probably damaging |
Het |
Baiap2l1 |
A |
T |
5: 144,215,363 (GRCm39) |
Y381N |
probably damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,243 (GRCm39) |
D180G |
probably damaging |
Het |
Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,416,423 (GRCm39) |
S330G |
probably benign |
Het |
Ccdc73 |
A |
T |
2: 104,848,111 (GRCm39) |
|
probably benign |
Het |
Cdc5l |
A |
T |
17: 45,703,967 (GRCm39) |
F752L |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,320,689 (GRCm39) |
H708N |
possibly damaging |
Het |
Cep170 |
T |
A |
1: 176,596,896 (GRCm39) |
K487M |
possibly damaging |
Het |
Cerkl |
A |
T |
2: 79,163,867 (GRCm39) |
N66K |
probably damaging |
Het |
Cilk1 |
G |
A |
9: 78,047,303 (GRCm39) |
V68I |
probably benign |
Het |
Clec11a |
C |
T |
7: 43,954,150 (GRCm39) |
A268T |
probably damaging |
Het |
Ctnna2 |
C |
A |
6: 77,091,912 (GRCm39) |
|
probably null |
Het |
Diaph3 |
C |
A |
14: 87,222,236 (GRCm39) |
R416L |
probably damaging |
Het |
Dnmbp |
T |
A |
19: 43,838,315 (GRCm39) |
N1170I |
probably damaging |
Het |
Erbb2 |
G |
T |
11: 98,318,279 (GRCm39) |
C505F |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,289,479 (GRCm39) |
F904L |
probably damaging |
Het |
Exo5 |
C |
T |
4: 120,779,514 (GRCm39) |
G117D |
probably damaging |
Het |
F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
Fbxl5 |
A |
G |
5: 43,930,896 (GRCm39) |
Y64H |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,798,207 (GRCm39) |
M207L |
probably damaging |
Het |
Galnt15 |
T |
C |
14: 31,771,786 (GRCm39) |
L277P |
probably damaging |
Het |
Gclm |
T |
C |
3: 122,049,261 (GRCm39) |
|
probably null |
Het |
Gm5493 |
T |
A |
17: 22,966,201 (GRCm39) |
C29S |
possibly damaging |
Het |
Grik3 |
A |
G |
4: 125,564,382 (GRCm39) |
T455A |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,639,766 (GRCm39) |
V93A |
probably benign |
Het |
Hdgfl2 |
C |
T |
17: 56,406,217 (GRCm39) |
A535V |
possibly damaging |
Het |
Hfm1 |
A |
T |
5: 107,049,597 (GRCm39) |
S455T |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,613,007 (GRCm39) |
D1424V |
probably benign |
Het |
Hsd3b6 |
C |
T |
3: 98,715,120 (GRCm39) |
V91I |
probably benign |
Het |
Intu |
T |
C |
3: 40,647,347 (GRCm39) |
V740A |
probably benign |
Het |
Itga2 |
C |
T |
13: 114,992,717 (GRCm39) |
V838I |
probably benign |
Het |
Kif9 |
A |
G |
9: 110,318,965 (GRCm39) |
E143G |
probably damaging |
Het |
Kmt2c |
T |
A |
5: 25,614,205 (GRCm39) |
I172F |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,754,043 (GRCm39) |
R21W |
probably damaging |
Het |
Mdh1b |
A |
T |
1: 63,750,620 (GRCm39) |
D449E |
probably benign |
Het |
Meis1 |
T |
C |
11: 18,831,785 (GRCm39) |
I418V |
probably benign |
Het |
Nags |
T |
A |
11: 102,037,395 (GRCm39) |
M162K |
probably damaging |
Het |
Nufip1 |
A |
G |
14: 76,348,413 (GRCm39) |
D14G |
probably benign |
Het |
Or2l13 |
T |
A |
16: 19,306,227 (GRCm39) |
I213N |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or7g28 |
T |
G |
9: 19,272,274 (GRCm39) |
I126L |
probably damaging |
Het |
Osmr |
A |
C |
15: 6,850,560 (GRCm39) |
V681G |
probably damaging |
Het |
Paxip1 |
G |
T |
5: 27,971,282 (GRCm39) |
Q356K |
unknown |
Het |
Pcdhac1 |
T |
A |
18: 37,223,595 (GRCm39) |
F136Y |
probably damaging |
Het |
Pla2g6 |
A |
G |
15: 79,171,328 (GRCm39) |
V699A |
probably benign |
Het |
Plcb3 |
A |
T |
19: 6,943,578 (GRCm39) |
V107E |
probably damaging |
Het |
Plch1 |
T |
A |
3: 63,681,136 (GRCm39) |
I164F |
probably damaging |
Het |
Plpp3 |
A |
T |
4: 105,052,077 (GRCm39) |
I73F |
probably damaging |
Het |
Plscr5 |
G |
A |
9: 92,080,574 (GRCm39) |
R20Q |
probably benign |
Het |
Prdm10 |
G |
A |
9: 31,252,779 (GRCm39) |
R504Q |
probably damaging |
Het |
Prss58 |
T |
C |
6: 40,874,751 (GRCm39) |
Y30C |
probably damaging |
Het |
Psg19 |
T |
A |
7: 18,530,894 (GRCm39) |
T87S |
probably benign |
Het |
Ptpn22 |
T |
G |
3: 103,789,418 (GRCm39) |
M294R |
probably benign |
Het |
Rai1 |
T |
A |
11: 60,079,482 (GRCm39) |
M1182K |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,867,388 (GRCm39) |
V795D |
possibly damaging |
Het |
Shcbp1 |
A |
G |
8: 4,789,214 (GRCm39) |
V535A |
possibly damaging |
Het |
Skint9 |
A |
G |
4: 112,246,447 (GRCm39) |
Y222H |
probably benign |
Het |
Slc13a3 |
T |
A |
2: 165,253,816 (GRCm39) |
I446F |
probably damaging |
Het |
Slc2a3 |
C |
T |
6: 122,714,196 (GRCm39) |
R57H |
probably damaging |
Het |
Slc44a4 |
A |
G |
17: 35,140,219 (GRCm39) |
D208G |
probably benign |
Het |
Spata31d1b |
A |
T |
13: 59,863,838 (GRCm39) |
N329Y |
possibly damaging |
Het |
Strbp |
C |
T |
2: 37,517,499 (GRCm39) |
R192K |
probably damaging |
Het |
Tctn3 |
A |
T |
19: 40,600,548 (GRCm39) |
L14Q |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 36,834,989 (GRCm39) |
D2V |
probably damaging |
Het |
Tln2 |
T |
G |
9: 67,241,596 (GRCm39) |
K1003T |
probably benign |
Het |
Tmem63b |
T |
C |
17: 45,971,800 (GRCm39) |
E805G |
probably damaging |
Het |
Trhr |
A |
T |
15: 44,060,980 (GRCm39) |
N167Y |
probably damaging |
Het |
Trpc2 |
A |
G |
7: 101,744,390 (GRCm39) |
R721G |
probably benign |
Het |
Ttn |
C |
A |
2: 76,701,267 (GRCm39) |
|
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,869,288 (GRCm39) |
I412T |
probably damaging |
Het |
Zcchc4 |
T |
A |
5: 52,953,952 (GRCm39) |
S211T |
probably benign |
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 |
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'- TTCAAACCAGCGGCTGTGATG -3'
(R):5'- AGCTACGGAATCCAGTCCTC -3'
Sequencing Primer
(F):5'- GCAGCTTTGCAGGGATGTAG -3'
(R):5'- TACGGAATCCAGTCCTCCAACAATC -3'
|
Posted On |
2016-06-06 |