Incidental Mutation 'IGL02055:Igdcc3'
| ID |
185201 |
| 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: 0.125)
|
| Stock # |
IGL02055
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65048471-65093154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65088562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 388
(V388A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034961]
[ENSMUST00000217371]
|
| AlphaFold |
Q8BQC3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034961
AA Change: V388A
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: V388A
| 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 |
possibly damaging
Transcript: ENSMUST00000217371
AA Change: V388A
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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 |
|---|
| Ap1b1 |
T |
A |
11: 4,974,452 (GRCm39) |
C353* |
probably null |
Het |
| Asl |
C |
T |
5: 130,041,891 (GRCm39) |
G309R |
possibly damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,650,731 (GRCm39) |
F835S |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,539 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,719,447 (GRCm39) |
P116T |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,284,489 (GRCm39) |
M609R |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,119,015 (GRCm39) |
I1858T |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,385 (GRCm39) |
I95V |
probably damaging |
Het |
| Galk2 |
A |
G |
2: 125,773,324 (GRCm39) |
K252R |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,337,991 (GRCm39) |
N369I |
probably benign |
Het |
| Glis2 |
G |
T |
16: 4,431,972 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,517,539 (GRCm39) |
F379S |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,896,930 (GRCm39) |
I248F |
possibly damaging |
Het |
| Pigm |
C |
T |
1: 172,204,732 (GRCm39) |
S156L |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,277,703 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
A |
G |
19: 3,571,781 (GRCm39) |
F123L |
probably benign |
Het |
| Pum1 |
C |
A |
4: 130,481,365 (GRCm39) |
S637R |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,422,745 (GRCm39) |
S112P |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,295 (GRCm39) |
K176* |
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,999 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 40,468,493 (GRCm39) |
F108I |
probably damaging |
Het |
| Tbc1d20 |
G |
A |
2: 152,149,978 (GRCm39) |
R73H |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,817,673 (GRCm39) |
|
probably null |
Het |
| Tmem86b |
A |
C |
7: 4,631,762 (GRCm39) |
|
probably benign |
Het |
| Trav6-4 |
G |
A |
14: 53,692,237 (GRCm39) |
V115I |
probably benign |
Het |
| Trim37 |
T |
G |
11: 87,057,475 (GRCm39) |
V303G |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 57,035,357 (GRCm39) |
R192Q |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,208,925 (GRCm39) |
D423G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,113,048 (GRCm39) |
D252V |
possibly damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,683,978 (GRCm39) |
L148V |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,571 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,450,763 (GRCm39) |
H216Q |
probably benign |
Het |
| Zfp39 |
A |
G |
11: 58,782,156 (GRCm39) |
V202A |
probably benign |
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 |
|
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 |
|
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