Incidental Mutation 'IGL00430:Igdcc3'
| ID |
4862 |
| 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 # |
IGL00430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65048471-65093154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65089301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 499
(D499A)
|
| 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: D499A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: D499A
| 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 |
noncoding transcript
Transcript: ENSMUST00000217135
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217371
AA Change: D499A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,772,641 (GRCm39) |
S17N |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Baz2b |
C |
A |
2: 59,743,139 (GRCm39) |
A1611S |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,344,586 (GRCm39) |
I475L |
probably benign |
Het |
| Cpsf4l |
C |
T |
11: 113,600,044 (GRCm39) |
|
probably benign |
Het |
| Crispld2 |
A |
T |
8: 120,760,299 (GRCm39) |
R408S |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,930,170 (GRCm39) |
M145K |
probably damaging |
Het |
| Dexi |
A |
T |
16: 10,360,309 (GRCm39) |
D82E |
probably benign |
Het |
| Epyc |
A |
T |
10: 97,517,009 (GRCm39) |
K282N |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 64,006,133 (GRCm39) |
V588F |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,801,227 (GRCm39) |
V532I |
probably damaging |
Het |
| Grk1 |
C |
A |
8: 13,463,128 (GRCm39) |
Y383* |
probably null |
Het |
| Gtpbp1 |
G |
T |
15: 79,603,337 (GRCm39) |
G609W |
possibly damaging |
Het |
| Hadha |
C |
T |
5: 30,325,145 (GRCm39) |
V682M |
possibly damaging |
Het |
| Kcna10 |
T |
G |
3: 107,102,044 (GRCm39) |
V225G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,480 (GRCm39) |
T75A |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,921,700 (GRCm39) |
E407G |
possibly damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,403,597 (GRCm39) |
K105N |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,516 (GRCm39) |
|
probably null |
Het |
| Pck2 |
C |
T |
14: 55,781,401 (GRCm39) |
A209V |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,713,461 (GRCm39) |
E1243G |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,829,203 (GRCm39) |
M25L |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,689,662 (GRCm39) |
Q117* |
probably null |
Het |
| Rbm14 |
A |
G |
19: 4,861,454 (GRCm39) |
V28A |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,147,275 (GRCm39) |
T38A |
probably benign |
Het |
| Rin1 |
A |
G |
19: 5,101,404 (GRCm39) |
N96S |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,865,773 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,047,377 (GRCm39) |
C404* |
probably null |
Het |
| St6galnac3 |
T |
C |
3: 153,215,040 (GRCm39) |
N38S |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,422,692 (GRCm38) |
S1376R |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,852,406 (GRCm39) |
I553V |
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,263,841 (GRCm39) |
L1063* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 126,995,742 (GRCm39) |
C269* |
probably null |
Het |
|
| Other mutations in Igdcc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01909:Igdcc3
|
APN |
9 |
65,051,819 (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 |
2012-04-20 |
Incidental Mutation