Incidental Mutation 'R7607:Igdcc4'
| ID |
588381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igdcc4
|
| Ensembl Gene |
ENSMUSG00000032816 |
| Gene Name |
immunoglobulin superfamily, DCC subclass, member 4 |
| Synonyms |
WI-18508, WI-16786, Nope, 9330155G14Rik |
| MMRRC Submission |
045677-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R7607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65101486-65137940 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65133758 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1024
(P1024S)
|
| 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: P1024S
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: P1024S
| 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: P1070S
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: P1070S
| 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: P1023S
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.0766 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
A |
T |
11: 70,237,557 (GRCm38) |
H30Q |
probably damaging |
Het |
| 1700012P22Rik |
T |
A |
4: 144,419,762 (GRCm38) |
H107L |
probably damaging |
Het |
| A930009A15Rik |
G |
A |
10: 115,581,989 (GRCm38) |
|
probably null |
Het |
| Abca7 |
T |
C |
10: 80,011,833 (GRCm38) |
L1779P |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,849,459 (GRCm38) |
V1140I |
possibly damaging |
Het |
| Ano2 |
C |
T |
6: 125,712,419 (GRCm38) |
A169V |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 35,909,107 (GRCm38) |
Y101C |
possibly damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,683,011 (GRCm38) |
|
probably null |
Het |
| Atp7b |
T |
G |
8: 22,011,506 (GRCm38) |
K912T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,814,321 (GRCm38) |
V112A |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 65,095,857 (GRCm38) |
N1119S |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,918,331 (GRCm38) |
Q3099K |
possibly damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,984,981 (GRCm38) |
V381A |
possibly damaging |
Het |
| Dctn1 |
C |
T |
6: 83,195,069 (GRCm38) |
R948* |
probably null |
Het |
| Dhrs3 |
A |
G |
4: 144,923,940 (GRCm38) |
T219A |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm38) |
S422L |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,449 (GRCm38) |
V78A |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,386,856 (GRCm38) |
T650A |
possibly damaging |
Het |
| Exoc6b |
T |
A |
6: 84,989,409 (GRCm38) |
K194N |
possibly damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,662,732 (GRCm38) |
W1809* |
probably null |
Het |
| Frmd4a |
T |
A |
2: 4,591,936 (GRCm38) |
L156* |
probably null |
Het |
| Gk5 |
A |
T |
9: 96,153,210 (GRCm38) |
|
probably null |
Het |
| Gm3573 |
A |
G |
14: 42,189,750 (GRCm38) |
F8L |
probably benign |
Het |
| Gm906 |
T |
C |
13: 50,250,260 (GRCm38) |
E2G |
possibly damaging |
Het |
| Gm9767 |
G |
A |
10: 26,078,940 (GRCm38) |
C130Y |
unknown |
Het |
| Grip2 |
T |
C |
6: 91,788,412 (GRCm38) |
T30A |
probably benign |
Het |
| Gskip |
C |
A |
12: 105,698,897 (GRCm38) |
A65E |
possibly damaging |
Het |
| Gtf2e2 |
A |
G |
8: 33,776,465 (GRCm38) |
R259G |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,419,177 (GRCm38) |
I244F |
probably damaging |
Het |
| Gxylt2 |
G |
T |
6: 100,798,190 (GRCm38) |
V357L |
possibly damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 120,097,911 (GRCm38) |
1141 |
probably null |
Het |
| Ino80 |
A |
T |
2: 119,382,269 (GRCm38) |
|
probably null |
Het |
| Knl1 |
T |
C |
2: 119,095,133 (GRCm38) |
F1881S |
possibly damaging |
Het |
| Mbd6 |
T |
C |
10: 127,285,230 (GRCm38) |
E518G |
unknown |
Het |
| Mlh1 |
A |
G |
9: 111,229,890 (GRCm38) |
S689P |
probably damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,398,940 (GRCm38) |
I589T |
possibly damaging |
Het |
| Mtmr12 |
C |
T |
15: 12,257,708 (GRCm38) |
Q291* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,222,035 (GRCm38) |
I33F |
probably benign |
Het |
| Mylk |
C |
T |
16: 34,894,814 (GRCm38) |
P504L |
probably benign |
Het |
| Ntrk3 |
C |
T |
7: 78,250,873 (GRCm38) |
A573T |
probably benign |
Het |
| Obscn |
G |
T |
11: 58,998,265 (GRCm38) |
S7560R |
unknown |
Het |
| Olfr24 |
A |
G |
9: 18,754,882 (GRCm38) |
F251S |
possibly damaging |
Het |
| Olfr617 |
A |
C |
7: 103,584,930 (GRCm38) |
T303P |
probably damaging |
Het |
| Pde1c |
T |
C |
6: 56,150,628 (GRCm38) |
T391A |
probably damaging |
Het |
| Pla2g4d |
T |
A |
2: 120,288,976 (GRCm38) |
H19L |
probably benign |
Het |
| Plce1 |
C |
A |
19: 38,524,752 (GRCm38) |
A165E |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,913,021 (GRCm38) |
S75P |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,654,783 (GRCm38) |
E128G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,506,613 (GRCm38) |
I420T |
probably damaging |
Het |
| Radil |
A |
T |
5: 142,494,795 (GRCm38) |
M635K |
probably damaging |
Het |
| Rnase11 |
G |
A |
14: 51,049,572 (GRCm38) |
T175I |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,563,738 (GRCm38) |
P13S |
|
Het |
| Slc18a2 |
C |
A |
19: 59,284,358 (GRCm38) |
A364D |
probably benign |
Het |
| Snph |
C |
T |
2: 151,594,586 (GRCm38) |
D141N |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,392,264 (GRCm38) |
K70R |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,926,713 (GRCm38) |
D24G |
probably benign |
Het |
| Spag6 |
T |
A |
2: 18,731,962 (GRCm38) |
D165E |
possibly damaging |
Het |
| Spata31 |
T |
G |
13: 64,921,592 (GRCm38) |
L518R |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,489,727 (GRCm38) |
V4059M |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,679,979 (GRCm38) |
Y261C |
probably damaging |
Het |
| Stoml1 |
A |
G |
9: 58,256,658 (GRCm38) |
R87G |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,474,829 (GRCm38) |
T40A |
unknown |
Het |
| Terb2 |
G |
T |
2: 122,186,475 (GRCm38) |
G26W |
probably damaging |
Het |
| Tmem62 |
T |
C |
2: 120,996,440 (GRCm38) |
I406T |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,844,732 (GRCm38) |
V582I |
probably benign |
Het |
| Tpsg1 |
G |
T |
17: 25,373,210 (GRCm38) |
G86V |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,669,535 (GRCm38) |
D1480G |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,772,573 (GRCm38) |
|
probably benign |
Het |
| Vmn1r48 |
C |
A |
6: 90,035,980 (GRCm38) |
V288L |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,173,640 (GRCm38) |
V397A |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,067,308 (GRCm38) |
N468D |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,066,231 (GRCm38) |
T1432K |
possibly damaging |
Het |
| Zswim5 |
T |
A |
4: 116,986,742 (GRCm38) |
D992E |
possibly damaging |
Het |
|
| Other mutations in Igdcc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Igdcc4
|
APN |
9 |
65,135,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01285:Igdcc4
|
APN |
9 |
65,123,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01412:Igdcc4
|
APN |
9 |
65,114,449 (GRCm38) |
splice site |
probably benign |
|
|
IGL01485:Igdcc4
|
APN |
9 |
65,122,607 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01552:Igdcc4
|
APN |
9 |
65,122,502 (GRCm38) |
intron |
probably benign |
|
|
IGL01651:Igdcc4
|
APN |
9 |
65,124,112 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL01751:Igdcc4
|
APN |
9 |
65,131,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02164:Igdcc4
|
APN |
9 |
65,124,782 (GRCm38) |
splice site |
probably benign |
|
|
IGL02468:Igdcc4
|
APN |
9 |
65,126,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02616:Igdcc4
|
APN |
9 |
65,133,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02685:Igdcc4
|
APN |
9 |
65,133,825 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02734:Igdcc4
|
APN |
9 |
65,131,456 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02893:Igdcc4
|
APN |
9 |
65,133,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0006:Igdcc4
|
UTSW |
9 |
65,135,100 (GRCm38) |
splice site |
probably benign |
|
|
R0583:Igdcc4
|
UTSW |
9 |
65,121,813 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0939:Igdcc4
|
UTSW |
9 |
65,131,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1075:Igdcc4
|
UTSW |
9 |
65,131,650 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1110:Igdcc4
|
UTSW |
9 |
65,126,926 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1183:Igdcc4
|
UTSW |
9 |
65,121,900 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1318:Igdcc4
|
UTSW |
9 |
65,133,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1507:Igdcc4
|
UTSW |
9 |
65,133,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1548:Igdcc4
|
UTSW |
9 |
65,135,227 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1640:Igdcc4
|
UTSW |
9 |
65,122,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1681:Igdcc4
|
UTSW |
9 |
65,128,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1687:Igdcc4
|
UTSW |
9 |
65,131,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1716:Igdcc4
|
UTSW |
9 |
65,126,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1964:Igdcc4
|
UTSW |
9 |
65,122,769 (GRCm38) |
missense |
probably benign |
|
|
R1996:Igdcc4
|
UTSW |
9 |
65,121,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2150:Igdcc4
|
UTSW |
9 |
65,125,335 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2278:Igdcc4
|
UTSW |
9 |
65,130,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3085:Igdcc4
|
UTSW |
9 |
65,132,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4011:Igdcc4
|
UTSW |
9 |
65,135,479 (GRCm38) |
missense |
probably benign |
|
|
R4077:Igdcc4
|
UTSW |
9 |
65,131,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4191:Igdcc4
|
UTSW |
9 |
65,124,151 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4293:Igdcc4
|
UTSW |
9 |
65,124,610 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4589:Igdcc4
|
UTSW |
9 |
65,130,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4931:Igdcc4
|
UTSW |
9 |
65,124,015 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5093:Igdcc4
|
UTSW |
9 |
65,122,757 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R5106:Igdcc4
|
UTSW |
9 |
65,124,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5546:Igdcc4
|
UTSW |
9 |
65,128,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5634:Igdcc4
|
UTSW |
9 |
65,134,546 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5810:Igdcc4
|
UTSW |
9 |
65,128,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6395:Igdcc4
|
UTSW |
9 |
65,135,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6475:Igdcc4
|
UTSW |
9 |
65,120,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6776:Igdcc4
|
UTSW |
9 |
65,135,418 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6828:Igdcc4
|
UTSW |
9 |
65,122,697 (GRCm38) |
missense |
probably benign |
|
|
R6914:Igdcc4
|
UTSW |
9 |
65,120,268 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6942:Igdcc4
|
UTSW |
9 |
65,120,268 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7072:Igdcc4
|
UTSW |
9 |
65,130,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7234:Igdcc4
|
UTSW |
9 |
65,135,468 (GRCm38) |
nonsense |
probably null |
|
|
R7448:Igdcc4
|
UTSW |
9 |
65,123,994 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7562:Igdcc4
|
UTSW |
9 |
65,124,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7734:Igdcc4
|
UTSW |
9 |
65,131,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7807:Igdcc4
|
UTSW |
9 |
65,133,795 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7852:Igdcc4
|
UTSW |
9 |
65,120,258 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7904:Igdcc4
|
UTSW |
9 |
65,134,519 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8133:Igdcc4
|
UTSW |
9 |
65,131,741 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R8147:Igdcc4
|
UTSW |
9 |
65,123,971 (GRCm38) |
missense |
probably benign |
0.42 |
|
R8230:Igdcc4
|
UTSW |
9 |
65,122,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8822:Igdcc4
|
UTSW |
9 |
65,124,016 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8846:Igdcc4
|
UTSW |
9 |
65,130,616 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9250:Igdcc4
|
UTSW |
9 |
65,131,650 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9613:Igdcc4
|
UTSW |
9 |
65,120,240 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9681:Igdcc4
|
UTSW |
9 |
65,134,576 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGTGGACTTGTATTCCTTCC -3'
(R):5'- CAGAAGTTGTGCTCTGGTGC -3'
Sequencing Primer
(F):5'- GTTTGATTGCACCACACCAGG -3'
(R):5'- GCCCCCTGGTGTTTGATTTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation