Incidental Mutation 'R8822:Igdcc4'
| ID |
673127 |
| 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 |
068655-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R8822 (G1)
|
| Quality Score |
181.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65031298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 412
(T412I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035499
AA Change: T412I
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: T412I
| 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: T459I
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: T459I
| 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: T412I
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb1 |
T |
C |
19: 56,711,849 (GRCm39) |
V349A |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,629,772 (GRCm39) |
V99A |
possibly damaging |
Het |
| Bank1 |
T |
A |
3: 135,809,640 (GRCm39) |
D418V |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,692 (GRCm39) |
V331A |
probably benign |
Het |
| Cd28 |
A |
T |
1: 60,808,820 (GRCm39) |
N178I |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,843,706 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,803,378 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
G |
A |
10: 92,875,003 (GRCm39) |
A494V |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,201,262 (GRCm39) |
I13T |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,514,471 (GRCm39) |
V493A |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,602,842 (GRCm39) |
M254L |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,648,184 (GRCm39) |
I1250N |
probably damaging |
Het |
| Gm6685 |
T |
G |
11: 28,289,768 (GRCm39) |
Q16P |
probably benign |
Het |
| Gpr26 |
A |
G |
7: 131,568,997 (GRCm39) |
Y114C |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,941,389 (GRCm39) |
V433D |
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,057,391 (GRCm39) |
W930R |
probably benign |
Het |
| Klhl35 |
T |
C |
7: 99,122,055 (GRCm39) |
V485A |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,121,610 (GRCm39) |
D225G |
probably damaging |
Het |
| Myo15a |
C |
T |
11: 60,367,740 (GRCm39) |
R167C |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,590,188 (GRCm39) |
D29V |
probably damaging |
Het |
| Or10d3 |
C |
A |
9: 39,461,812 (GRCm39) |
M118I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,926 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5d47 |
A |
G |
2: 87,804,785 (GRCm39) |
S75P |
possibly damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,700 (GRCm39) |
Y6C |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,551,328 (GRCm39) |
E204G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,806,312 (GRCm39) |
I2054K |
|
Het |
| Pkp1 |
T |
A |
1: 135,807,661 (GRCm39) |
M536L |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,658 (GRCm39) |
E68G |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,127,431 (GRCm39) |
D1892G |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,057,092 (GRCm39) |
K92E |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,699,763 (GRCm39) |
L76P |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,002,588 (GRCm39) |
N1559K |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,833,346 (GRCm39) |
N750I |
possibly damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,691,613 (GRCm39) |
S221P |
probably damaging |
Het |
| S100a4 |
T |
C |
3: 90,512,358 (GRCm39) |
S14P |
probably benign |
Het |
| Samd11 |
A |
T |
4: 156,336,764 (GRCm39) |
L25Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,761,615 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,370,979 (GRCm39) |
S534P |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,507,702 (GRCm39) |
V781F |
probably benign |
Het |
| Setd1a |
C |
T |
7: 127,385,332 (GRCm39) |
L680F |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,149 (GRCm39) |
Q265P |
probably damaging |
Het |
| Slc27a1 |
T |
A |
8: 72,033,308 (GRCm39) |
D283E |
probably damaging |
Het |
| Slc38a4 |
G |
A |
15: 96,906,952 (GRCm39) |
T262M |
probably benign |
Het |
| Slc52a3 |
T |
G |
2: 151,846,513 (GRCm39) |
V158G |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,484,125 (GRCm39) |
V64A |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,499,900 (GRCm39) |
W887R |
probably damaging |
Het |
| Tcap |
G |
A |
11: 98,275,264 (GRCm39) |
V133M |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,578,444 (GRCm39) |
L217P |
probably damaging |
Het |
| Tnfrsf12a |
T |
C |
17: 23,895,188 (GRCm39) |
S87G |
probably benign |
Het |
| Tyr |
G |
A |
7: 87,142,330 (GRCm39) |
R77C |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,269,410 (GRCm39) |
V2107M |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,544,920 (GRCm39) |
S118P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zfp263 |
G |
T |
16: 3,562,004 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,723,831 (GRCm39) |
T1945A |
probably benign |
Het |
| Zfp644 |
G |
T |
5: 106,783,087 (GRCm39) |
R1065S |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,466,315 (GRCm39) |
S290T |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,869 (GRCm39) |
D699E |
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 |
|
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 |
|
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'- TAGGCCCTCTTGTCAGAGTC -3'
(R):5'- CCCCTTGCCTTTTGGTAGTGAAG -3'
Sequencing Primer
(F):5'- GTCAGAGTCTCCCTTCTGCC -3'
(R):5'- GAGAGAAGCCAATGATTTGCTCGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation