Incidental Mutation 'IGL01508:Gdap2'
| ID |
89114 |
| 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 # |
IGL01508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
100069697-100114297 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100078243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 69
(T69I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029459]
[ENSMUST00000106997]
|
| AlphaFold |
Q9DBL2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029459
AA Change: T69I
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865
AA Change: T69I
| 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 |
possibly damaging
Transcript: ENSMUST00000106997
AA Change: T69I
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865
AA Change: T69I
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,636,326 (GRCm39) |
R732* |
probably null |
Het |
| Adarb2 |
C |
A |
13: 8,802,606 (GRCm39) |
|
probably null |
Het |
| Alb |
C |
T |
5: 90,618,697 (GRCm39) |
A430V |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,103,427 (GRCm39) |
F397I |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,535 (GRCm39) |
S1518P |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,890,804 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,365 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,666,231 (GRCm39) |
S599G |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Fbxo3 |
A |
T |
2: 103,864,021 (GRCm39) |
H92L |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,518,601 (GRCm39) |
D313G |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,497,294 (GRCm39) |
E185G |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,230 (GRCm39) |
N272I |
probably damaging |
Het |
| Gin1 |
T |
C |
1: 97,705,162 (GRCm39) |
V84A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,613 (GRCm39) |
L369P |
possibly damaging |
Het |
| Itgax |
C |
T |
7: 127,743,990 (GRCm39) |
T891I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,116,356 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
T |
C |
2: 181,338,830 (GRCm39) |
T169A |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,309 (GRCm39) |
V1017A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,391,760 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
G |
12: 9,629,370 (GRCm39) |
D81G |
probably damaging |
Het |
| Pate4 |
A |
T |
9: 35,519,602 (GRCm39) |
C29* |
probably null |
Het |
| Prkce |
C |
T |
17: 86,937,513 (GRCm39) |
R649C |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,741,303 (GRCm39) |
V14A |
probably benign |
Het |
| Rnf166 |
C |
A |
8: 123,197,081 (GRCm39) |
C57F |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,680 (GRCm39) |
I1426T |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,773,894 (GRCm39) |
Q424* |
probably null |
Het |
| Ttc27 |
T |
A |
17: 75,142,352 (GRCm39) |
S606T |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,759,002 (GRCm39) |
S292P |
possibly damaging |
Het |
| Wdr70 |
A |
G |
15: 8,108,747 (GRCm39) |
V133A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,062,229 (GRCm39) |
F252S |
possibly damaging |
Het |
|
| Other mutations in Gdap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02342:Gdap2
|
APN |
3 |
100,085,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Gdap2
|
APN |
3 |
100,078,336 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
2013-12-03 |
Incidental Mutation