Incidental Mutation 'IGL00514:Nipsnap2'
| ID |
10924 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nipsnap2
|
| Ensembl Gene |
ENSMUSG00000029432 |
| Gene Name |
nipsnap homolog 2 |
| Synonyms |
Gbas, Nipsnap2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129802127-129835391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129831915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 236
(D236G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086046]
[ENSMUST00000124342]
[ENSMUST00000186265]
[ENSMUST00000195946]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086046
AA Change: D236G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432
AA Change: D236G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:NIPSNAP
|
182 |
279 |
2.6e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124342
AA Change: D236G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432
AA Change: D236G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:NIPSNAP
|
182 |
279 |
2.8e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137604
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186265
AA Change: D236G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
AA Change: D236G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:NIPSNAP
|
182 |
279 |
2.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195946
|
| SMART Domains |
Protein: ENSMUSP00000142916
Gene: ENSMUSG00000029432
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,432,141 (GRCm39) |
E75G |
unknown |
Het |
| Ank3 |
T |
C |
10: 69,818,035 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
G |
6: 87,645,390 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,792,821 (GRCm39) |
F436I |
probably benign |
Het |
| Blmh |
A |
G |
11: 76,857,839 (GRCm39) |
D327G |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,628,752 (GRCm39) |
H310Q |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,576,013 (GRCm39) |
K110E |
unknown |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,939 (GRCm39) |
D293G |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,638,985 (GRCm39) |
K480* |
probably null |
Het |
| Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
| Ehd4 |
G |
A |
2: 119,921,694 (GRCm39) |
P521S |
probably damaging |
Het |
| Endov |
G |
T |
11: 119,382,291 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
G |
7: 129,769,441 (GRCm39) |
T648P |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,513,922 (GRCm39) |
Y329C |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,929,590 (GRCm39) |
S1308T |
probably benign |
Het |
| Mill1 |
A |
T |
7: 17,998,566 (GRCm39) |
T259S |
possibly damaging |
Het |
| Ms4a4c |
C |
T |
19: 11,396,400 (GRCm39) |
A111V |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,110,610 (GRCm39) |
R1507M |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,256,384 (GRCm39) |
D210N |
probably benign |
Het |
| Neo1 |
G |
T |
9: 58,829,202 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
G |
T |
17: 84,903,734 (GRCm39) |
|
probably null |
Het |
| Prox2 |
A |
T |
12: 85,141,552 (GRCm39) |
M217K |
probably benign |
Het |
| Rgl2 |
G |
A |
17: 34,152,110 (GRCm39) |
G299E |
probably benign |
Het |
| Rragb |
T |
G |
X: 151,954,294 (GRCm39) |
C370W |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,393,945 (GRCm39) |
N209K |
probably damaging |
Het |
| Sec61g |
A |
T |
11: 16,451,817 (GRCm39) |
|
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,567,105 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
T |
11: 60,669,193 (GRCm39) |
K114* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,298,397 (GRCm39) |
L730P |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,190,280 (GRCm39) |
L183P |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,388,155 (GRCm39) |
C637S |
probably benign |
Het |
| Tmem30c |
A |
T |
16: 57,090,437 (GRCm39) |
Y257N |
probably damaging |
Het |
| Trpm3 |
C |
T |
19: 22,965,023 (GRCm39) |
T1506M |
probably benign |
Het |
| Yes1 |
A |
C |
5: 32,812,473 (GRCm39) |
K248Q |
probably benign |
Het |
| Zfp638 |
A |
T |
6: 83,933,680 (GRCm39) |
K811N |
probably damaging |
Het |
|
| Other mutations in Nipsnap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Nipsnap2
|
APN |
5 |
129,823,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01320:Nipsnap2
|
APN |
5 |
129,821,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01321:Nipsnap2
|
APN |
5 |
129,834,205 (GRCm39) |
makesense |
probably null |
|
|
IGL02119:Nipsnap2
|
APN |
5 |
129,825,056 (GRCm39) |
splice site |
probably benign |
|
|
IGL02636:Nipsnap2
|
APN |
5 |
129,822,354 (GRCm39) |
intron |
probably benign |
|
|
R0540:Nipsnap2
|
UTSW |
5 |
129,831,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Nipsnap2
|
UTSW |
5 |
129,830,282 (GRCm39) |
intron |
probably benign |
|
|
R1649:Nipsnap2
|
UTSW |
5 |
129,830,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1743:Nipsnap2
|
UTSW |
5 |
129,834,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Nipsnap2
|
UTSW |
5 |
129,830,287 (GRCm39) |
splice site |
probably null |
|
|
R2187:Nipsnap2
|
UTSW |
5 |
129,823,537 (GRCm39) |
splice site |
probably null |
|
|
R2215:Nipsnap2
|
UTSW |
5 |
129,816,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2430:Nipsnap2
|
UTSW |
5 |
129,821,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3124:Nipsnap2
|
UTSW |
5 |
129,825,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5072:Nipsnap2
|
UTSW |
5 |
129,816,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5150:Nipsnap2
|
UTSW |
5 |
129,834,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5823:Nipsnap2
|
UTSW |
5 |
129,816,833 (GRCm39) |
splice site |
probably null |
|
|
R6736:Nipsnap2
|
UTSW |
5 |
129,822,352 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6913:Nipsnap2
|
UTSW |
5 |
129,830,357 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7163:Nipsnap2
|
UTSW |
5 |
129,821,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7597:Nipsnap2
|
UTSW |
5 |
129,816,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation