Incidental Mutation 'IGL02684:Gdap2'
ID |
303470 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gdap2
|
Ensembl Gene |
ENSMUSG00000027865 |
Gene Name |
ganglioside-induced differentiation-associated-protein 2 |
Synonyms |
D3Ertd801e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02684
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
100069697-100114297 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100078336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 100
(D100G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029459]
[ENSMUST00000106997]
|
AlphaFold |
Q9DBL2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029459
AA Change: D100G
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029459 Gene: ENSMUSG00000027865 AA Change: D100G
Domain | Start | End | E-Value | Type |
Pfam:Macro
|
72 |
185 |
1.3e-30 |
PFAM |
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
SEC14
|
334 |
482 |
5.41e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106997
AA Change: D100G
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000102610 Gene: ENSMUSG00000027865 AA Change: D100G
Domain | Start | End | E-Value | Type |
Pfam:Macro
|
72 |
185 |
4.4e-32 |
PFAM |
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
SEC14
|
334 |
482 |
5.41e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150223
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
A |
T |
14: 35,532,020 (GRCm39) |
L185* |
probably null |
Het |
Aadacl4fm5 |
A |
G |
4: 144,504,755 (GRCm39) |
|
probably benign |
Het |
Actrt3 |
A |
T |
3: 30,653,840 (GRCm39) |
D53E |
probably benign |
Het |
Ankrd34b |
T |
C |
13: 92,575,016 (GRCm39) |
S83P |
probably damaging |
Het |
Asap1 |
A |
G |
15: 63,966,018 (GRCm39) |
V1029A |
probably benign |
Het |
Blk |
T |
C |
14: 63,617,143 (GRCm39) |
E288G |
probably benign |
Het |
Cep192 |
T |
G |
18: 67,967,634 (GRCm39) |
V706G |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,125,097 (GRCm39) |
K908E |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,139,521 (GRCm39) |
I391N |
possibly damaging |
Het |
Fmn1 |
A |
G |
2: 113,355,622 (GRCm39) |
R688G |
unknown |
Het |
Gm43638 |
T |
C |
5: 87,610,769 (GRCm39) |
I522V |
possibly damaging |
Het |
Gsap |
A |
T |
5: 21,447,801 (GRCm39) |
|
probably null |
Het |
Hoxd12 |
A |
G |
2: 74,505,905 (GRCm39) |
S159G |
probably benign |
Het |
Ints7 |
A |
G |
1: 191,345,749 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
G |
A |
6: 121,389,900 (GRCm39) |
Q524* |
probably null |
Het |
Klra10 |
T |
A |
6: 130,258,845 (GRCm39) |
H14L |
possibly damaging |
Het |
Lratd1 |
T |
C |
12: 14,200,646 (GRCm39) |
D27G |
probably damaging |
Het |
Mettl15 |
T |
C |
2: 108,961,925 (GRCm39) |
E228G |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,319,591 (GRCm39) |
M216V |
probably benign |
Het |
Or9s18 |
G |
A |
13: 65,300,210 (GRCm39) |
M57I |
probably damaging |
Het |
Pabpc1l |
A |
G |
2: 163,873,197 (GRCm39) |
N156D |
probably benign |
Het |
Pkhd1l1 |
G |
T |
15: 44,379,605 (GRCm39) |
|
probably null |
Het |
Pm20d1 |
T |
A |
1: 131,732,697 (GRCm39) |
N345K |
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
Sos2 |
A |
G |
12: 69,643,440 (GRCm39) |
L980S |
probably damaging |
Het |
Stam2 |
A |
T |
2: 52,609,947 (GRCm39) |
H56Q |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,779,571 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,688,079 (GRCm39) |
D249E |
probably damaging |
Het |
Vmn1r203 |
A |
T |
13: 22,708,539 (GRCm39) |
T107S |
possibly damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,404,887 (GRCm39) |
L172P |
probably damaging |
Het |
Vrtn |
A |
G |
12: 84,696,923 (GRCm39) |
R558G |
probably benign |
Het |
Zfp977 |
A |
T |
7: 42,232,439 (GRCm39) |
D7E |
probably damaging |
Het |
|
Other mutations in Gdap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01508:Gdap2
|
APN |
3 |
100,078,243 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02342:Gdap2
|
APN |
3 |
100,085,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R0128:Gdap2
|
UTSW |
3 |
100,109,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R0130:Gdap2
|
UTSW |
3 |
100,109,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Gdap2
|
UTSW |
3 |
100,085,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0588:Gdap2
|
UTSW |
3 |
100,077,317 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R1521:Gdap2
|
UTSW |
3 |
100,101,931 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2168:Gdap2
|
UTSW |
3 |
100,095,199 (GRCm39) |
missense |
probably benign |
|
R3040:Gdap2
|
UTSW |
3 |
100,095,351 (GRCm39) |
critical splice donor site |
probably null |
|
R4793:Gdap2
|
UTSW |
3 |
100,078,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R5406:Gdap2
|
UTSW |
3 |
100,098,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R5438:Gdap2
|
UTSW |
3 |
100,085,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R5987:Gdap2
|
UTSW |
3 |
100,109,572 (GRCm39) |
intron |
probably benign |
|
R6816:Gdap2
|
UTSW |
3 |
100,099,021 (GRCm39) |
critical splice donor site |
probably null |
|
R7307:Gdap2
|
UTSW |
3 |
100,109,349 (GRCm39) |
missense |
unknown |
|
R7424:Gdap2
|
UTSW |
3 |
100,109,382 (GRCm39) |
missense |
unknown |
|
R7673:Gdap2
|
UTSW |
3 |
100,099,015 (GRCm39) |
missense |
probably benign |
0.01 |
R8221:Gdap2
|
UTSW |
3 |
100,109,611 (GRCm39) |
missense |
unknown |
|
R9414:Gdap2
|
UTSW |
3 |
100,090,071 (GRCm39) |
critical splice donor site |
probably null |
|
R9562:Gdap2
|
UTSW |
3 |
100,099,006 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9599:Gdap2
|
UTSW |
3 |
100,078,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R9691:Gdap2
|
UTSW |
3 |
100,109,441 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2015-04-16 |