Incidental Mutation 'R6828:Igdcc4'
| ID |
534261 |
| 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 |
045020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R6828 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65029979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 343
(I343T)
|
| 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 |
probably benign
Transcript: ENSMUST00000077696
AA Change: I343T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: I343T
| 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 |
silent
Transcript: ENSMUST00000213533
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,545,389 (GRCm39) |
M349K |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,304,606 (GRCm39) |
E472G |
probably damaging |
Het |
| Ap2s1 |
T |
C |
7: 16,482,626 (GRCm39) |
Y94H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,964,237 (GRCm39) |
F530L |
probably damaging |
Het |
| Aplnr |
G |
A |
2: 84,970,103 (GRCm39) |
|
probably benign |
Het |
| Arid3b |
A |
G |
9: 57,717,446 (GRCm39) |
|
probably null |
Het |
| Ash1l |
A |
C |
3: 88,983,420 (GRCm39) |
D2874A |
probably benign |
Het |
| Aurka |
T |
A |
2: 172,199,172 (GRCm39) |
R277S |
probably damaging |
Het |
| Calhm4 |
A |
G |
10: 33,919,953 (GRCm39) |
F105L |
possibly damaging |
Het |
| Ccar1 |
C |
A |
10: 62,600,209 (GRCm39) |
W574L |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,311,100 (GRCm39) |
F207L |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,315,290 (GRCm39) |
R111G |
probably damaging |
Het |
| Clk3 |
G |
A |
9: 57,668,132 (GRCm39) |
T263I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,272,607 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,709,748 (GRCm39) |
G604D |
unknown |
Het |
| Cracdl |
T |
C |
1: 37,663,898 (GRCm39) |
T667A |
possibly damaging |
Het |
| Crb2 |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
2: 37,666,421 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
A |
T |
4: 120,405,335 (GRCm39) |
V369D |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,895,244 (GRCm39) |
I1262T |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Fam170b |
A |
G |
14: 32,557,915 (GRCm39) |
D250G |
probably damaging |
Het |
| Foxs1 |
G |
A |
2: 152,775,048 (GRCm39) |
Q2* |
probably null |
Het |
| Frmpd1 |
T |
C |
4: 45,275,383 (GRCm39) |
V512A |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,389,911 (GRCm39) |
|
probably null |
Het |
| Gria1 |
A |
G |
11: 57,180,288 (GRCm39) |
Y677C |
probably damaging |
Het |
| Igkv1-132 |
T |
C |
6: 67,736,697 (GRCm39) |
V5A |
probably benign |
Het |
| Ikzf5 |
A |
T |
7: 130,993,401 (GRCm39) |
C256S |
probably damaging |
Het |
| Itk |
G |
A |
11: 46,232,045 (GRCm39) |
H297Y |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,017,756 (GRCm39) |
E879G |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,529,123 (GRCm39) |
V127A |
probably damaging |
Het |
| Man2b1 |
C |
A |
8: 85,813,548 (GRCm39) |
P247T |
possibly damaging |
Het |
| Meak7 |
G |
A |
8: 120,499,306 (GRCm39) |
T62I |
possibly damaging |
Het |
| Mxd3 |
T |
C |
13: 55,473,967 (GRCm39) |
K122E |
probably benign |
Het |
| Npr1 |
C |
A |
3: 90,372,120 (GRCm39) |
V231L |
probably benign |
Het |
| Nsd2 |
C |
T |
5: 34,050,912 (GRCm39) |
A1263V |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,258,973 (GRCm39) |
D374G |
probably damaging |
Het |
| Optc |
A |
T |
1: 133,825,605 (GRCm39) |
I307N |
probably damaging |
Het |
| Or5p80 |
A |
C |
7: 108,229,500 (GRCm39) |
Q100H |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,863 (GRCm39) |
S16T |
probably damaging |
Het |
| Pecr |
C |
A |
1: 72,306,616 (GRCm39) |
E222* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,423,987 (GRCm39) |
N520S |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,355,653 (GRCm39) |
N19S |
probably benign |
Het |
| Rock2 |
G |
A |
12: 16,992,960 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
G |
A |
11: 75,205,697 (GRCm39) |
T220I |
probably damaging |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,038,457 (GRCm39) |
H397Y |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,966,632 (GRCm39) |
I185T |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,295,230 (GRCm39) |
V300E |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,471,047 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,843,724 (GRCm39) |
K1379R |
possibly damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,894 (GRCm39) |
I543V |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,447 (GRCm39) |
E334G |
probably damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,688 (GRCm39) |
Y325C |
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 |
|
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'- GCTTTTCCACCTAGGGATCAG -3'
(R):5'- ATTCAGACTCCTCCCATGTGG -3'
Sequencing Primer
(F):5'- CTTTTCCACCTAGGGATCAGAGTAAG -3'
(R):5'- ACATTTAGTCTTCTAGGACCGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation