Incidental Mutation 'R0588:Gdap2'
| ID |
55831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdap2
|
| Ensembl Gene |
ENSMUSG00000027865 |
| Gene Name |
ganglioside-induced differentiation-associated-protein 2 |
| Synonyms |
D3Ertd801e |
| MMRRC Submission |
038778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0588 (G1)
|
| Quality Score |
138 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
100069697-100114297 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 100077317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029459]
[ENSMUST00000106997]
|
| AlphaFold |
Q9DBL2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029459
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865
AA Change: M1K
| 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 null
Transcript: ENSMUST00000106997
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865
AA Change: M1K
| 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
|
| Meta Mutation Damage Score |
0.9552 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (25/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,548,787 (GRCm39) |
K1299* |
probably null |
Het |
| Adamts2 |
G |
T |
11: 50,667,491 (GRCm39) |
W476C |
probably damaging |
Het |
| Ankrd13c |
T |
C |
3: 157,711,454 (GRCm39) |
F525L |
probably damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,522 (GRCm39) |
S102G |
probably damaging |
Het |
| Atp2a3 |
A |
T |
11: 72,863,850 (GRCm39) |
D192V |
possibly damaging |
Het |
| Cabin1 |
T |
C |
10: 75,581,171 (GRCm39) |
E385G |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,606,538 (GRCm39) |
D1020E |
probably damaging |
Het |
| Calcb |
C |
T |
7: 114,319,361 (GRCm39) |
H48Y |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,892,199 (GRCm39) |
S4P |
probably damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,247,792 (GRCm39) |
I147T |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 121,643,514 (GRCm39) |
|
probably benign |
Het |
| Fas |
T |
C |
19: 34,304,540 (GRCm39) |
V267A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,584,746 (GRCm39) |
L84P |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,609,940 (GRCm39) |
V171A |
probably benign |
Het |
| Gprc5b |
T |
A |
7: 118,583,218 (GRCm39) |
Q217L |
probably benign |
Het |
| Lrrc69 |
A |
G |
4: 14,704,001 (GRCm39) |
I273T |
possibly damaging |
Het |
| Map4k4 |
C |
A |
1: 40,044,024 (GRCm39) |
Q556K |
possibly damaging |
Het |
| Npy6r |
T |
A |
18: 44,408,888 (GRCm39) |
V103E |
possibly damaging |
Het |
| Or5b24 |
A |
G |
19: 12,912,111 (GRCm39) |
Y3C |
probably benign |
Het |
| Shisa9 |
A |
G |
16: 12,085,638 (GRCm39) |
T416A |
probably damaging |
Het |
| Slc26a9 |
C |
A |
1: 131,681,749 (GRCm39) |
|
probably benign |
Het |
| Sostdc1 |
G |
T |
12: 36,367,020 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,962 (GRCm39) |
F510L |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,810,106 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACAGCAGAGTCTGGTGCG -3'
(R):5'- GCCCATCAACCAGGAGCTGATAAG -3'
Sequencing Primer
(F):5'- GCGTTGGTGTGGTAGAATTAAAG -3'
(R):5'- tccaaaacaggcaaaccaac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation