Incidental Mutation 'R5438:Gdap2'
| ID |
428466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdap2
|
| Ensembl Gene |
ENSMUSG00000027865 |
| Gene Name |
ganglioside-induced differentiation-associated-protein 2 |
| Synonyms |
D3Ertd801e |
| MMRRC Submission |
043003-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100069697-100114297 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100085629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 184
(I184F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029459]
[ENSMUST00000106997]
|
| AlphaFold |
Q9DBL2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029459
AA Change: I184F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865
AA Change: I184F
| 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 damaging
Transcript: ENSMUST00000106997
AA Change: I184F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865
AA Change: I184F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,538,165 (GRCm39) |
Q244K |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,275,995 (GRCm39) |
L4Q |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,504,570 (GRCm39) |
V581I |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,151,288 (GRCm39) |
V3D |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,633,479 (GRCm39) |
F525L |
probably benign |
Het |
| Cimip4 |
T |
C |
15: 78,263,040 (GRCm39) |
T180A |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,231,707 (GRCm39) |
T1127K |
possibly damaging |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,682,792 (GRCm39) |
I1076F |
possibly damaging |
Het |
| Elp4 |
A |
G |
2: 105,734,748 (GRCm39) |
F29S |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,650,799 (GRCm39) |
Y448* |
probably null |
Het |
| Fam219a |
A |
G |
4: 41,520,302 (GRCm39) |
S149P |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,376,527 (GRCm39) |
K153R |
probably damaging |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,428,605 (GRCm39) |
L277Q |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,107,769 (GRCm39) |
S2128T |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,321 (GRCm39) |
S919T |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,661,455 (GRCm39) |
N1163S |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,618 (GRCm39) |
C807* |
probably null |
Het |
| Or52n5 |
G |
A |
7: 104,588,344 (GRCm39) |
V204I |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,925 (GRCm39) |
F255L |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,207 (GRCm39) |
N62S |
unknown |
Het |
| Pcdh18 |
A |
T |
3: 49,710,465 (GRCm39) |
Y283* |
probably null |
Het |
| Ptger2 |
A |
T |
14: 45,227,101 (GRCm39) |
H227L |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,910,785 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,708,302 (GRCm39) |
D98E |
probably benign |
Het |
| Smad1 |
A |
T |
8: 80,082,949 (GRCm39) |
F184I |
probably benign |
Het |
| Sncg |
C |
T |
14: 34,095,637 (GRCm39) |
V52I |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Zc3h11a |
C |
T |
1: 133,568,385 (GRCm39) |
R88H |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,138,894 (GRCm39) |
V46A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,193 (GRCm39) |
C423S |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,705 (GRCm39) |
H841Q |
possibly 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 |
|
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 |
|
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'- AAGGGCTTGAAAGGATCTCTC -3'
(R):5'- CCTGTAAGCCGTTATGCATAGG -3'
Sequencing Primer
(F):5'- GCTTGAAAGGATCTCTCAGAGTATG -3'
(R):5'- GGTGCTCTCTGGTTAGAAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation