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 |
100162381-100206981 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100178313 bp (GRCm38)
|
| 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: 66,888,417 (GRCm38) |
Q244K |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,236,836 (GRCm38) |
L4Q |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,014,554 (GRCm38) |
V581I |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,309,368 (GRCm38) |
V3D |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,326,484 (GRCm38) |
F525L |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,095,199 (GRCm38) |
T1127K |
possibly damaging |
Het |
| Col6a4 |
A |
T |
9: 106,013,696 (GRCm38) |
L1800I |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,791,966 (GRCm38) |
I1076F |
possibly damaging |
Het |
| Elp4 |
A |
G |
2: 105,904,403 (GRCm38) |
F29S |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,566,342 (GRCm38) |
Y448* |
probably null |
Het |
| Fam219a |
A |
G |
4: 41,520,302 (GRCm38) |
S149P |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,900,508 (GRCm38) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,736,306 (GRCm38) |
G859D |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,238,464 (GRCm38) |
K153R |
probably damaging |
Het |
| Ighv3-1 |
T |
A |
12: 113,964,469 (GRCm38) |
H90L |
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,521,298 (GRCm38) |
L277Q |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 67,800,774 (GRCm38) |
S2128T |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,291,326 (GRCm38) |
S919T |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,684,521 (GRCm38) |
N1163S |
probably damaging |
Het |
| Mypn |
G |
T |
10: 63,135,839 (GRCm38) |
C807* |
probably null |
Het |
| Olfr1031 |
T |
C |
2: 85,992,581 (GRCm38) |
F255L |
probably damaging |
Het |
| Olfr669 |
G |
A |
7: 104,939,137 (GRCm38) |
V204I |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,757,459 (GRCm38) |
N62S |
unknown |
Het |
| Pcdh18 |
A |
T |
3: 49,756,016 (GRCm38) |
Y283* |
probably null |
Het |
| Ptger2 |
A |
T |
14: 44,989,644 (GRCm38) |
H227L |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 125,068,865 (GRCm38) |
Y72C |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,801,018 (GRCm38) |
D98E |
probably benign |
Het |
| Smad1 |
A |
T |
8: 79,356,320 (GRCm38) |
F184I |
probably benign |
Het |
| Sncg |
C |
T |
14: 34,373,680 (GRCm38) |
V52I |
probably benign |
Het |
| Tex33 |
T |
C |
15: 78,378,840 (GRCm38) |
T180A |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,754,824 (GRCm38) |
I22042F |
probably damaging |
Het |
| Zc3h11a |
C |
T |
1: 133,640,647 (GRCm38) |
R88H |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,489,470 (GRCm38) |
V46A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 32,978,219 (GRCm38) |
C423S |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,619,586 (GRCm38) |
H841Q |
possibly damaging |
Het |
|
| Other mutations in Gdap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Gdap2
|
APN |
3 |
100,170,927 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL02342:Gdap2
|
APN |
3 |
100,178,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02684:Gdap2
|
APN |
3 |
100,171,020 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0128:Gdap2
|
UTSW |
3 |
100,201,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0130:Gdap2
|
UTSW |
3 |
100,201,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0344:Gdap2
|
UTSW |
3 |
100,178,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0588:Gdap2
|
UTSW |
3 |
100,170,001 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R1521:Gdap2
|
UTSW |
3 |
100,194,615 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R2168:Gdap2
|
UTSW |
3 |
100,187,883 (GRCm38) |
missense |
probably benign |
|
|
R3040:Gdap2
|
UTSW |
3 |
100,188,035 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4793:Gdap2
|
UTSW |
3 |
100,170,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5406:Gdap2
|
UTSW |
3 |
100,191,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5987:Gdap2
|
UTSW |
3 |
100,202,256 (GRCm38) |
intron |
probably benign |
|
|
R6816:Gdap2
|
UTSW |
3 |
100,191,705 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7307:Gdap2
|
UTSW |
3 |
100,202,033 (GRCm38) |
missense |
unknown |
|
|
R7424:Gdap2
|
UTSW |
3 |
100,202,066 (GRCm38) |
missense |
unknown |
|
|
R7673:Gdap2
|
UTSW |
3 |
100,191,699 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8221:Gdap2
|
UTSW |
3 |
100,202,295 (GRCm38) |
missense |
unknown |
|
|
R9414:Gdap2
|
UTSW |
3 |
100,182,755 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9562:Gdap2
|
UTSW |
3 |
100,191,690 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9599:Gdap2
|
UTSW |
3 |
100,170,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9691:Gdap2
|
UTSW |
3 |
100,202,125 (GRCm38) |
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