Incidental Mutation 'R6395:Igdcc4'
| ID |
514722 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R6395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65042400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 106
(G106R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035499
AA Change: G1118R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: G1118R
| 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 damaging
Transcript: ENSMUST00000077696
AA Change: G1164R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: G1164R
| 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 damaging
Transcript: ENSMUST00000166273
AA Change: G106R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132576
Gene: ENSMUSG00000032816
AA Change: G106R
| 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: G1117R
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
C |
A |
2: 113,879,731 (GRCm39) |
E243* |
probably null |
Het |
| Ahi1 |
T |
C |
10: 20,855,491 (GRCm39) |
I600T |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,058,507 (GRCm39) |
T2330A |
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,582,576 (GRCm39) |
M280K |
probably benign |
Het |
| Ccdc117 |
T |
C |
11: 5,484,762 (GRCm39) |
|
probably null |
Het |
| Cct8 |
G |
T |
16: 87,283,364 (GRCm39) |
Y292* |
probably null |
Het |
| Celf1 |
A |
G |
2: 90,834,203 (GRCm39) |
I165V |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,183,429 (GRCm39) |
N453K |
probably benign |
Het |
| Chst10 |
T |
C |
1: 38,910,770 (GRCm39) |
I131M |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,616,006 (GRCm39) |
I420T |
probably damaging |
Het |
| Cspg4b |
T |
G |
13: 113,506,003 (GRCm39) |
C2377W |
probably damaging |
Het |
| Dact3 |
A |
C |
7: 16,617,086 (GRCm39) |
Q95P |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,056,540 (GRCm39) |
|
probably null |
Het |
| Dock2 |
G |
T |
11: 34,182,874 (GRCm39) |
H1586Q |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,221,771 (GRCm39) |
M2525T |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,261,176 (GRCm39) |
H786R |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,759,321 (GRCm39) |
T811A |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,343,106 (GRCm39) |
T148A |
probably damaging |
Het |
| Fsip1 |
A |
C |
2: 118,067,406 (GRCm39) |
S306A |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,607,661 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
CGTT |
2: 98,494,152 (GRCm39) |
|
probably benign |
Het |
| Gm9837 |
T |
A |
11: 53,360,885 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
A |
T |
4: 124,940,058 (GRCm39) |
Q310L |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,701 (GRCm39) |
D53G |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,259,269 (GRCm39) |
D1036E |
probably damaging |
Het |
| Htr3a |
A |
T |
9: 48,811,871 (GRCm39) |
D381E |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,864,078 (GRCm39) |
T114A |
probably damaging |
Het |
| Ints14 |
A |
G |
9: 64,885,406 (GRCm39) |
|
probably null |
Het |
| Kcnt1 |
T |
A |
2: 25,799,251 (GRCm39) |
M906K |
possibly damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lars2 |
A |
G |
9: 123,200,990 (GRCm39) |
Q18R |
probably benign |
Het |
| Mndal |
C |
T |
1: 173,698,999 (GRCm39) |
C222Y |
possibly damaging |
Het |
| Msto1 |
C |
T |
3: 88,812,781 (GRCm39) |
A1854V |
possibly damaging |
Het |
| Musk |
G |
A |
4: 58,286,169 (GRCm39) |
G20R |
probably benign |
Het |
| Or6c215 |
G |
T |
10: 129,638,013 (GRCm39) |
P127Q |
probably damaging |
Het |
| Oxct1 |
G |
T |
15: 4,056,309 (GRCm39) |
S19I |
possibly damaging |
Het |
| Papss2 |
G |
A |
19: 32,641,876 (GRCm39) |
G517D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,676,918 (GRCm39) |
S1017G |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,150,242 (GRCm39) |
Q227R |
probably benign |
Het |
| Pdlim5 |
G |
T |
3: 142,020,183 (GRCm39) |
P92Q |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,595 (GRCm39) |
T480I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,583,531 (GRCm39) |
R213G |
possibly damaging |
Het |
| Pramel18 |
G |
A |
4: 101,767,189 (GRCm39) |
R146H |
probably benign |
Het |
| Prrc1 |
C |
T |
18: 57,495,619 (GRCm39) |
S32L |
probably null |
Het |
| Prss47 |
C |
T |
13: 65,197,116 (GRCm39) |
V207I |
probably benign |
Het |
| Prtg |
G |
A |
9: 72,819,414 (GRCm39) |
V1136I |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,418,265 (GRCm39) |
M69K |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,436,636 (GRCm39) |
D876E |
probably damaging |
Het |
| Rnasel |
T |
C |
1: 153,637,867 (GRCm39) |
M680T |
probably damaging |
Het |
| Rnf111 |
G |
T |
9: 70,383,692 (GRCm39) |
N80K |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,946,074 (GRCm39) |
C557Y |
probably damaging |
Het |
| Serpina3a |
A |
T |
12: 104,082,710 (GRCm39) |
Y161F |
probably damaging |
Het |
| Serpinb11 |
A |
T |
1: 107,299,781 (GRCm39) |
|
probably null |
Het |
| Sgpl1 |
C |
A |
10: 60,947,936 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
A |
G |
9: 44,310,576 (GRCm39) |
Y60C |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 120,015,208 (GRCm39) |
S381P |
probably benign |
Het |
| Slc5a7 |
C |
T |
17: 54,585,849 (GRCm39) |
V323I |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,668,818 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
A |
T |
1: 72,655,716 (GRCm39) |
E665V |
possibly damaging |
Het |
| Specc1 |
C |
A |
11: 62,023,164 (GRCm39) |
N736K |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,495 (GRCm39) |
Y159C |
probably benign |
Het |
| Tex54 |
A |
G |
19: 8,718,462 (GRCm39) |
D68G |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,196,268 (GRCm39) |
I1431V |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,047,414 (GRCm39) |
V671A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,748,931 (GRCm39) |
|
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,188,389 (GRCm39) |
T557A |
possibly damaging |
Het |
| Uri1 |
C |
A |
7: 37,661,974 (GRCm39) |
V446L |
probably benign |
Het |
| Vpreb1b |
C |
T |
16: 17,798,771 (GRCm39) |
R86C |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,331,184 (GRCm39) |
K1231E |
probably benign |
Het |
| Xcr1 |
G |
A |
9: 123,684,854 (GRCm39) |
R303C |
probably damaging |
Het |
| Zfp619 |
C |
A |
7: 39,186,454 (GRCm39) |
A828E |
possibly damaging |
Het |
| Zfp687 |
T |
C |
3: 94,915,049 (GRCm39) |
S1151G |
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 |
|
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 |
|
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'- ACTTTCTGGTAGCCTGAGTGAG -3'
(R):5'- AGTCTGCTCCTTGAGACAGATC -3'
Sequencing Primer
(F):5'- GCAAACGTGTGACATTCTGC -3'
(R):5'- TGCTCCTTGAGACAGATCCACAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation