Incidental Mutation 'R6471:Gdap1'
| ID |
516685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdap1
|
| Ensembl Gene |
ENSMUSG00000025777 |
| Gene Name |
ganglioside-induced differentiation-associated-protein 1 |
| Synonyms |
|
| MMRRC Submission |
044604-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
17215586-17234495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17230249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 227
(N227K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026879]
[ENSMUST00000189736]
|
| AlphaFold |
O88741 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026879
AA Change: N227K
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026879
Gene: ENSMUSG00000025777
AA Change: N227K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
24 |
99 |
2.8e-15 |
PFAM |
|
Pfam:GST_N_3
|
28 |
105 |
8.1e-18 |
PFAM |
|
Pfam:GST_N_2
|
33 |
100 |
2.7e-12 |
PFAM |
|
Pfam:GST_C
|
148 |
287 |
3.5e-10 |
PFAM |
|
Pfam:GST_C_2
|
160 |
282 |
5.8e-13 |
PFAM |
|
Pfam:GST_C_3
|
164 |
285 |
8.5e-10 |
PFAM |
|
transmembrane domain
|
292 |
309 |
N/A |
INTRINSIC |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189736
|
| SMART Domains |
Protein: ENSMUSP00000140406
Gene: ENSMUSG00000025777
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eema2
|
19 |
55 |
4e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0718 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.6%
|
| Validation Efficiency |
97% (29/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele develop motor deficits and a peripheral neuropathy with loss of motor neurons and abnormal neuromuscular junctions. Cultured motor neurons show large and abnormal mitochondria, reduced axon length, changes in the ER cisternae, and altered calcium ion homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Birc2 |
A |
G |
9: 7,857,421 (GRCm39) |
S351P |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,511,938 (GRCm39) |
V319A |
probably damaging |
Het |
| Ccdc86 |
A |
G |
19: 10,926,243 (GRCm39) |
S119P |
unknown |
Het |
| Ciao2a |
T |
A |
9: 66,034,139 (GRCm39) |
V4E |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,995,409 (GRCm39) |
R26G |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,778,612 (GRCm39) |
V437A |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,938,228 (GRCm39) |
S352P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,017,166 (GRCm39) |
V607A |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,962,985 (GRCm39) |
V177D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Glod4 |
A |
T |
11: 76,124,744 (GRCm39) |
F185L |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lrrc37 |
T |
A |
11: 103,510,448 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,744,991 (GRCm39) |
V1488M |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,110 (GRCm39) |
M326K |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,165,543 (GRCm39) |
L795P |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,595,630 (GRCm39) |
D526G |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,582,563 (GRCm39) |
I1492V |
probably damaging |
Het |
| Rbfa |
G |
T |
18: 80,243,673 (GRCm39) |
S31* |
probably null |
Het |
| Rnft1 |
T |
C |
11: 86,382,508 (GRCm39) |
Y244H |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,693,003 (GRCm39) |
G208R |
probably benign |
Het |
| Tex15 |
G |
T |
8: 34,071,762 (GRCm39) |
Q2436H |
probably damaging |
Het |
| Ttbk1 |
A |
G |
17: 46,778,203 (GRCm39) |
L613P |
probably benign |
Het |
| Tuba1b |
T |
C |
15: 98,830,328 (GRCm39) |
K164R |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,384,511 (GRCm39) |
L669P |
probably damaging |
Homo |
| Vmn1r169 |
A |
G |
7: 23,276,970 (GRCm39) |
T121A |
probably benign |
Het |
| Vmn2r51 |
A |
C |
7: 9,836,510 (GRCm39) |
D90E |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,710,431 (GRCm39) |
H718R |
probably benign |
Het |
| Zfp93 |
T |
C |
7: 23,972,754 (GRCm39) |
Y33H |
probably damaging |
Het |
|
| Other mutations in Gdap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02424:Gdap1
|
APN |
1 |
17,231,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02570:Gdap1
|
APN |
1 |
17,215,709 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03269:Gdap1
|
APN |
1 |
17,231,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0992:Gdap1
|
UTSW |
1 |
17,217,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Gdap1
|
UTSW |
1 |
17,215,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Gdap1
|
UTSW |
1 |
17,217,169 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2061:Gdap1
|
UTSW |
1 |
17,215,689 (GRCm39) |
unclassified |
probably benign |
|
|
R3983:Gdap1
|
UTSW |
1 |
17,230,131 (GRCm39) |
intron |
probably benign |
|
|
R4892:Gdap1
|
UTSW |
1 |
17,230,218 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5765:Gdap1
|
UTSW |
1 |
17,231,650 (GRCm39) |
missense |
probably benign |
|
|
R7574:Gdap1
|
UTSW |
1 |
17,231,665 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7689:Gdap1
|
UTSW |
1 |
17,231,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Gdap1
|
UTSW |
1 |
17,231,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Gdap1
|
UTSW |
1 |
17,230,177 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9335:Gdap1
|
UTSW |
1 |
17,231,389 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9378:Gdap1
|
UTSW |
1 |
17,227,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCTCACAGCTGGACTATTTC -3'
(R):5'- AGATTCCAGAGTTCTCCTGAATG -3'
Sequencing Primer
(F):5'- ACAGCTGGACTATTTCCTCATTTCAC -3'
(R):5'- CCAGAGTTCTCCTGAATGAAATAGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation