Incidental Mutation 'IGL01909:Igdcc3'
| ID |
179750 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igdcc3
|
| Ensembl Gene |
ENSMUSG00000032394 |
| Gene Name |
immunoglobulin superfamily, DCC subclass, member 3 |
| Synonyms |
Punc, WI-14920, 2810401C09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL01909
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65048471-65093154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65051819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 141
(R141W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034961]
[ENSMUST00000217371]
|
| AlphaFold |
Q8BQC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034961
AA Change: R141W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: R141W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
IGc2
|
66 |
136 |
1.28e-10 |
SMART |
|
IGc2
|
163 |
228 |
4.77e-10 |
SMART |
|
IGc2
|
262 |
326 |
8.06e-8 |
SMART |
|
IGc2
|
354 |
419 |
3.17e-15 |
SMART |
|
FN3
|
436 |
519 |
1.2e-13 |
SMART |
|
FN3
|
534 |
615 |
2.66e-6 |
SMART |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217371
AA Change: R141W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a gene trap mutation exhibit reduced performance on the rotarod, suggesting impaired cerebellar function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700111E14Rik |
A |
T |
6: 36,914,152 (GRCm39) |
|
probably benign |
Het |
| Actn2 |
A |
T |
13: 12,324,479 (GRCm39) |
|
probably null |
Het |
| Apom |
C |
T |
17: 35,350,208 (GRCm39) |
A78T |
probably benign |
Het |
| Bambi |
A |
G |
18: 3,508,229 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,576 (GRCm39) |
M418V |
probably benign |
Het |
| Clptm1 |
T |
C |
7: 19,389,701 (GRCm39) |
N43D |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,136,886 (GRCm39) |
V241A |
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 63,339,910 (GRCm39) |
I32N |
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,752,576 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,608,844 (GRCm39) |
D893G |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| H2-M10.1 |
C |
A |
17: 36,635,971 (GRCm39) |
G154* |
probably null |
Het |
| Igkv14-130 |
A |
G |
6: 67,768,323 (GRCm39) |
K60E |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,512 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,324,529 (GRCm39) |
L1288P |
possibly damaging |
Het |
| Mavs |
T |
A |
2: 131,087,441 (GRCm39) |
M313K |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,154,731 (GRCm39) |
E148G |
possibly damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,950 (GRCm39) |
T188S |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,159 (GRCm39) |
I68K |
possibly damaging |
Het |
| Or8d1 |
T |
A |
9: 38,767,013 (GRCm39) |
Y218* |
probably null |
Het |
| Plekha3 |
C |
T |
2: 76,517,047 (GRCm39) |
T133M |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,309,066 (GRCm39) |
|
probably null |
Het |
| Septin2 |
A |
G |
1: 93,426,823 (GRCm39) |
N144S |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,651,451 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,594,312 (GRCm39) |
I59K |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,184 (GRCm39) |
S1243G |
possibly damaging |
Het |
| Unc13a |
T |
A |
8: 72,091,854 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,444,918 (GRCm39) |
R525G |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r37 |
T |
A |
7: 9,219,032 (GRCm39) |
K451* |
probably null |
Het |
| Vmn2r71 |
C |
T |
7: 85,270,001 (GRCm39) |
T504I |
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,465,994 (GRCm39) |
C397S |
probably damaging |
Het |
|
| Other mutations in Igdcc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Igdcc3
|
APN |
9 |
65,089,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Igdcc3
|
APN |
9 |
65,085,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01545:Igdcc3
|
APN |
9 |
65,087,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01576:Igdcc3
|
APN |
9 |
65,085,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Igdcc3
|
APN |
9 |
65,091,162 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02055:Igdcc3
|
APN |
9 |
65,088,562 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02565:Igdcc3
|
APN |
9 |
65,087,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Igdcc3
|
UTSW |
9 |
65,090,034 (GRCm39) |
nonsense |
probably null |
|
|
R4731:Igdcc3
|
UTSW |
9 |
65,089,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Igdcc3
|
UTSW |
9 |
65,084,797 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5487:Igdcc3
|
UTSW |
9 |
65,088,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Igdcc3
|
UTSW |
9 |
65,048,770 (GRCm39) |
small deletion |
probably benign |
|
|
R6578:Igdcc3
|
UTSW |
9 |
65,089,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6867:Igdcc3
|
UTSW |
9 |
65,090,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Igdcc3
|
UTSW |
9 |
65,088,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Igdcc3
|
UTSW |
9 |
65,088,550 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9619:Igdcc3
|
UTSW |
9 |
65,092,552 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9682:Igdcc3
|
UTSW |
9 |
65,091,332 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9718:Igdcc3
|
UTSW |
9 |
65,090,280 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation