Incidental Mutation 'R8147:Igdcc4'
| ID |
632863 |
| 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 |
067575-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R8147 (G1)
|
| Quality Score |
201.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65031253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 397
(Q397L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035499
AA Change: Q397L
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: Q397L
| 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: Q444L
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: Q444L
| 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 |
possibly damaging
Transcript: ENSMUST00000213533
AA Change: Q397L
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1264 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.3%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,562,876 (GRCm39) |
E487G |
probably damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,184,949 (GRCm39) |
I287N |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,339,821 (GRCm39) |
N371K |
probably benign |
Het |
| Atr |
T |
A |
9: 95,781,113 (GRCm39) |
F1392L |
probably damaging |
Het |
| Bicra |
G |
A |
7: 15,722,395 (GRCm39) |
P374L |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,569,188 (GRCm39) |
R912Q |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,801,609 (GRCm39) |
N778S |
probably benign |
Het |
| Cert1 |
C |
T |
13: 96,679,736 (GRCm39) |
P22L |
probably benign |
Het |
| Dgat2 |
C |
T |
7: 98,806,187 (GRCm39) |
V337I |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,208,395 (GRCm39) |
D937G |
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,222 (GRCm39) |
V295A |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,673,130 (GRCm39) |
T934A |
probably benign |
Het |
| Fam81b |
A |
C |
13: 76,383,140 (GRCm39) |
V243G |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,305,051 (GRCm39) |
|
probably null |
Het |
| Glrx3 |
G |
A |
7: 137,064,736 (GRCm39) |
S275N |
probably benign |
Het |
| Ints6 |
C |
T |
14: 62,951,186 (GRCm39) |
G281D |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,875,414 (GRCm39) |
S1722T |
probably benign |
Het |
| Lrrc4b |
A |
G |
7: 44,111,829 (GRCm39) |
D567G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,385,491 (GRCm39) |
L1200S |
probably damaging |
Het |
| Mad1l1 |
G |
A |
5: 140,129,734 (GRCm39) |
R434C |
probably damaging |
Het |
| Mia3 |
A |
T |
1: 183,109,062 (GRCm39) |
F358I |
|
Het |
| Ncapd3 |
C |
T |
9: 26,942,014 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,295,873 (GRCm39) |
R156G |
possibly damaging |
Het |
| Nus1 |
T |
C |
10: 52,305,416 (GRCm39) |
|
probably null |
Het |
| Or2y14 |
C |
T |
11: 49,405,050 (GRCm39) |
T195I |
probably benign |
Het |
| Or4a79 |
T |
A |
2: 89,552,186 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4c31 |
T |
C |
2: 88,292,427 (GRCm39) |
F267L |
possibly damaging |
Het |
| Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
| Pafah1b2 |
A |
G |
9: 45,895,147 (GRCm39) |
|
probably null |
Het |
| Pold2 |
T |
C |
11: 5,826,842 (GRCm39) |
T31A |
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,801,680 (GRCm39) |
N512S |
possibly damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,695,564 (GRCm39) |
L23Q |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,153,283 (GRCm39) |
V293A |
probably damaging |
Het |
| Rpl18a |
G |
T |
8: 71,348,069 (GRCm39) |
T174N |
probably damaging |
Het |
| Senp5 |
A |
T |
16: 31,808,128 (GRCm39) |
H375Q |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,015 (GRCm39) |
F1217L |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 111,993,218 (GRCm39) |
I314V |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,288,682 (GRCm39) |
D596G |
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,607 (GRCm39) |
I285T |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,298,467 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
C |
7: 18,770,718 (GRCm39) |
F270L |
probably damaging |
Het |
| Taar5 |
T |
C |
10: 23,846,749 (GRCm39) |
V49A |
probably damaging |
Het |
| Tbx18 |
C |
T |
9: 87,606,411 (GRCm39) |
V245I |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,714,586 (GRCm39) |
M403T |
probably benign |
Het |
| Tmprss11f |
A |
T |
5: 86,677,769 (GRCm39) |
F333L |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,589,213 (GRCm39) |
I46V |
probably benign |
Het |
| Traf5 |
G |
T |
1: 191,746,984 (GRCm39) |
N112K |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,991,165 (GRCm39) |
M263K |
unknown |
Het |
| Trim55 |
A |
G |
3: 19,727,011 (GRCm39) |
I359M |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,594,306 (GRCm39) |
W2140R |
probably benign |
Het |
| Vgll3 |
T |
C |
16: 65,624,964 (GRCm39) |
V104A |
probably damaging |
Het |
| Vmn2r74 |
C |
A |
7: 85,605,227 (GRCm39) |
G474* |
probably null |
Het |
| Vps18 |
G |
A |
2: 119,123,237 (GRCm39) |
A98T |
probably benign |
Het |
| Zfand4 |
T |
A |
6: 116,291,169 (GRCm39) |
S387T |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,934 (GRCm39) |
Y721C |
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 |
|
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 |
|
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'- ATTTGCTCGCTGTGCAACTC -3'
Sequencing Primer
(F):5'- GTCAGAGTCTCCCTTCTGCC -3'
(R):5'- TGCAACTCAGGCCGCTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation