Incidental Mutation 'R4191:Igdcc4'
ID |
318320 |
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 |
041022-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R4191 (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 65031433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 457
(Q457R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150272
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
AlphaFold |
Q9EQS9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035499
AA Change: Q457R
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000045387 Gene: ENSMUSG00000032816 AA Change: Q457R
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 benign
Transcript: ENSMUST00000077696
AA Change: Q504R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000076878 Gene: ENSMUSG00000032816 AA Change: Q504R
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 benign
Transcript: ENSMUST00000213533
AA Change: Q457R
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216542
|
Meta Mutation Damage Score |
0.0713 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
95% (57/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,207,728 (GRCm39) |
T22A |
probably damaging |
Het |
Ache |
A |
T |
5: 137,289,334 (GRCm39) |
I347F |
probably damaging |
Het |
Adgrl1 |
C |
G |
8: 84,665,569 (GRCm39) |
R1464G |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,377,380 (GRCm39) |
D422G |
probably damaging |
Het |
Cdx1 |
C |
T |
18: 61,153,510 (GRCm39) |
S176N |
possibly damaging |
Het |
Cimip3 |
C |
T |
17: 47,747,562 (GRCm39) |
R61H |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
Cyct |
G |
T |
2: 76,184,535 (GRCm39) |
P72Q |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Disp1 |
G |
T |
1: 182,870,737 (GRCm39) |
A561E |
probably damaging |
Het |
Donson |
C |
A |
16: 91,485,480 (GRCm39) |
A41S |
possibly damaging |
Het |
Gldc |
T |
C |
19: 30,123,058 (GRCm39) |
E279G |
probably damaging |
Het |
Gpr160 |
A |
T |
3: 30,950,863 (GRCm39) |
I312F |
possibly damaging |
Het |
H2-Eb2 |
G |
A |
17: 34,563,529 (GRCm39) |
|
probably benign |
Het |
Irf2bp2 |
T |
C |
8: 127,320,084 (GRCm39) |
D31G |
probably damaging |
Het |
Klrb1 |
T |
A |
6: 128,690,597 (GRCm39) |
K42* |
probably null |
Het |
Lrrfip1 |
A |
T |
1: 91,038,121 (GRCm39) |
E446D |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
Maml3 |
A |
G |
3: 51,597,390 (GRCm39) |
V1098A |
probably benign |
Het |
Mrgpra4 |
T |
C |
7: 47,630,867 (GRCm39) |
S245G |
probably benign |
Het |
Mybbp1a |
A |
G |
11: 72,342,113 (GRCm39) |
E1283G |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,068,226 (GRCm39) |
S285G |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,475,319 (GRCm39) |
D1876G |
probably benign |
Het |
Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
Or2y14 |
T |
A |
11: 49,404,639 (GRCm39) |
M58K |
probably damaging |
Het |
Or7g25 |
A |
G |
9: 19,160,383 (GRCm39) |
V104A |
probably benign |
Het |
Or8c11 |
T |
A |
9: 38,289,648 (GRCm39) |
M157K |
probably damaging |
Het |
Or8k18 |
C |
A |
2: 86,085,666 (GRCm39) |
V124L |
probably benign |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
Pex10 |
T |
C |
4: 155,152,362 (GRCm39) |
|
probably null |
Het |
Pgf |
T |
C |
12: 85,218,561 (GRCm39) |
D63G |
probably benign |
Het |
Piwil4 |
A |
G |
9: 14,626,296 (GRCm39) |
S465P |
probably damaging |
Het |
Plcb1 |
A |
C |
2: 135,187,010 (GRCm39) |
H759P |
probably damaging |
Het |
Pmfbp1 |
A |
T |
8: 110,254,260 (GRCm39) |
M432L |
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Rmnd1 |
A |
T |
10: 4,360,809 (GRCm39) |
|
probably benign |
Het |
Ro60 |
T |
C |
1: 143,646,524 (GRCm39) |
I74V |
probably benign |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,046,601 (GRCm39) |
C3510Y |
possibly damaging |
Het |
Tanc1 |
A |
G |
2: 59,669,357 (GRCm39) |
I1274V |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,074,263 (GRCm39) |
E1874G |
probably damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
Tlk1 |
G |
A |
2: 70,555,891 (GRCm39) |
R423C |
probably damaging |
Het |
Trp53rkb |
T |
C |
2: 166,637,395 (GRCm39) |
I117T |
probably damaging |
Het |
Ttll9 |
A |
G |
2: 152,844,927 (GRCm39) |
T432A |
probably benign |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,825,568 (GRCm39) |
D512G |
probably benign |
Het |
Zfyve19 |
A |
G |
2: 119,041,312 (GRCm39) |
K76R |
possibly 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 |
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'- CTTGGTCATCACTCAGATCGG -3'
(R):5'- AGAAGCATTCTCTCCGTCAAGG -3'
Sequencing Primer
(F):5'- ATCACTCAGATCGGCCTTCAGG -3'
(R):5'- CGTCAAGGAGTGCGTGTACAC -3'
|
Posted On |
2015-06-10 |