Incidental Mutation 'R7562:Igdcc4'
ID |
585202 |
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 |
045627-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.294)
|
Stock # |
R7562 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 65031306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 415
(A415S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
AlphaFold |
Q9EQS9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035499
AA Change: A415S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045387 Gene: ENSMUSG00000032816 AA Change: A415S
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: A462S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000076878 Gene: ENSMUSG00000032816 AA Change: A462S
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 damaging
Transcript: ENSMUST00000213533
AA Change: A415S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
C |
T |
5: 36,030,563 (GRCm39) |
T544M |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,270,697 (GRCm39) |
R651G |
probably benign |
Het |
Adck1 |
G |
A |
12: 88,335,203 (GRCm39) |
D30N |
possibly damaging |
Het |
Alcam |
T |
A |
16: 52,089,186 (GRCm39) |
I505F |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,597,394 (GRCm39) |
L740P |
probably damaging |
Het |
Ankib1 |
C |
T |
5: 3,797,021 (GRCm39) |
D264N |
probably null |
Het |
Arid2 |
T |
G |
15: 96,299,849 (GRCm39) |
H1787Q |
probably damaging |
Het |
Asf1a |
C |
T |
10: 53,482,283 (GRCm39) |
R102* |
probably null |
Het |
Atp2b1 |
C |
A |
10: 98,858,667 (GRCm39) |
|
probably null |
Het |
Bdp1 |
T |
C |
13: 100,162,049 (GRCm39) |
D2291G |
probably benign |
Het |
Bnip5 |
T |
C |
17: 29,128,778 (GRCm39) |
D45G |
probably benign |
Het |
Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
Catsperg2 |
A |
G |
7: 29,397,144 (GRCm39) |
F1120L |
probably benign |
Het |
Ccdc80 |
C |
T |
16: 44,943,266 (GRCm39) |
A792V |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,904,426 (GRCm39) |
D2381E |
unknown |
Het |
Cenpe |
C |
T |
3: 134,954,395 (GRCm39) |
R1751W |
probably damaging |
Het |
Cenpm |
T |
C |
15: 82,125,562 (GRCm39) |
I66V |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,298,081 (GRCm39) |
W103R |
possibly damaging |
Het |
Cntn2 |
T |
C |
1: 132,454,055 (GRCm39) |
D317G |
possibly damaging |
Het |
Cwf19l1 |
G |
A |
19: 44,117,680 (GRCm39) |
T154M |
probably damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,012,321 (GRCm39) |
M368K |
possibly damaging |
Het |
Dars1 |
A |
G |
1: 128,294,763 (GRCm39) |
S413P |
possibly damaging |
Het |
Dscc1 |
A |
G |
15: 54,947,581 (GRCm39) |
Y200H |
probably benign |
Het |
Dsn1 |
A |
T |
2: 156,842,792 (GRCm39) |
D183E |
probably damaging |
Het |
Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
Fancc |
A |
T |
13: 63,550,867 (GRCm39) |
|
probably null |
Het |
Fbxo34 |
T |
A |
14: 47,767,135 (GRCm39) |
M216K |
probably benign |
Het |
Fer1l6 |
T |
G |
15: 58,432,331 (GRCm39) |
S293A |
probably benign |
Het |
Foxn1 |
T |
A |
11: 78,261,958 (GRCm39) |
E137V |
probably damaging |
Het |
Fshr |
A |
C |
17: 89,295,925 (GRCm39) |
F261V |
probably damaging |
Het |
Gabrb3 |
C |
T |
7: 57,461,926 (GRCm39) |
R153* |
probably null |
Het |
Garin1b |
T |
C |
6: 29,323,833 (GRCm39) |
V186A |
probably damaging |
Het |
Gps2 |
C |
A |
11: 69,807,308 (GRCm39) |
N321K |
probably benign |
Het |
Hdgf |
T |
C |
3: 87,813,993 (GRCm39) |
M20T |
possibly damaging |
Het |
Kif26b |
A |
G |
1: 178,742,541 (GRCm39) |
E879G |
probably damaging |
Het |
Krt13 |
T |
C |
11: 100,010,162 (GRCm39) |
Y273C |
probably damaging |
Het |
Mab21l4 |
C |
A |
1: 93,087,689 (GRCm39) |
V55F |
probably damaging |
Het |
Mag |
A |
G |
7: 30,608,559 (GRCm39) |
V185A |
possibly damaging |
Het |
Map3k21 |
C |
T |
8: 126,665,539 (GRCm39) |
T576M |
probably damaging |
Het |
Mtcl2 |
A |
C |
2: 156,895,509 (GRCm39) |
L332R |
probably damaging |
Het |
Mtrr |
A |
G |
13: 68,714,336 (GRCm39) |
F468L |
probably damaging |
Het |
Myb |
C |
T |
10: 21,017,653 (GRCm39) |
|
probably null |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nckap5l |
A |
T |
15: 99,321,166 (GRCm39) |
|
probably null |
Het |
Nop9 |
C |
T |
14: 55,986,809 (GRCm39) |
R240W |
probably benign |
Het |
Notch2 |
T |
C |
3: 98,020,430 (GRCm39) |
L775P |
probably damaging |
Het |
Or13a27 |
T |
C |
7: 139,925,143 (GRCm39) |
Y253C |
probably damaging |
Het |
Or4c116 |
C |
T |
2: 88,942,629 (GRCm39) |
V76I |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,227 (GRCm39) |
I252F |
possibly damaging |
Het |
Or7a40 |
T |
C |
16: 16,491,579 (GRCm39) |
N89D |
probably benign |
Het |
Or8c9 |
A |
G |
9: 38,241,239 (GRCm39) |
T116A |
probably damaging |
Het |
Oxa1l |
T |
A |
14: 54,600,934 (GRCm39) |
W136R |
probably damaging |
Het |
Palm3 |
T |
A |
8: 84,748,136 (GRCm39) |
V7E |
possibly damaging |
Het |
Pkhd1l1 |
C |
G |
15: 44,378,326 (GRCm39) |
R1027G |
possibly damaging |
Het |
Prickle2 |
A |
T |
6: 92,352,929 (GRCm39) |
*902K |
probably null |
Het |
Rassf7 |
C |
T |
7: 140,797,101 (GRCm39) |
R105* |
probably null |
Het |
Septin9 |
T |
C |
11: 117,217,337 (GRCm39) |
|
probably null |
Het |
Sorbs3 |
T |
C |
14: 70,444,976 (GRCm39) |
N34S |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,682,412 (GRCm39) |
T269A |
probably benign |
Het |
Spata20 |
T |
G |
11: 94,373,379 (GRCm39) |
K497N |
probably benign |
Het |
Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,538,021 (GRCm39) |
T1865A |
probably damaging |
Het |
Tmc5 |
A |
T |
7: 118,222,549 (GRCm39) |
Y83F |
probably benign |
Het |
Tmem175 |
T |
A |
5: 108,789,715 (GRCm39) |
D103E |
probably damaging |
Het |
Top2b |
A |
C |
14: 16,412,946 (GRCm38) |
M952L |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,941 (GRCm39) |
I298V |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,056,420 (GRCm39) |
I573V |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,518,731 (GRCm39) |
I63M |
probably benign |
Het |
Zfp568 |
G |
A |
7: 29,722,681 (GRCm39) |
R542H |
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 |
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 |
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'- TAGGCCCTCTTGTCAGAGTCTC -3'
(R):5'- GAGTAGACATACCCCTTGCC -3'
Sequencing Primer
(F):5'- GTCAGAGTCTCCCTTCTGCC -3'
(R):5'- TACCCCTTGCCTTTTGGTAGTGAAG -3'
|
Posted On |
2019-10-17 |