Incidental Mutation 'IGL01320:Nipsnap2'
| ID |
74019 |
| 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 # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129802127-129835391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 129821828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 108
(T108M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142916
(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: T108M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432
AA Change: T108M
| 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: T108M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432
AA Change: T108M
| 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 damaging
Transcript: ENSMUST00000186265
AA Change: T108M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
AA Change: T108M
| 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 damaging
Transcript: ENSMUST00000195946
AA Change: T108M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142916
Gene: ENSMUSG00000029432
AA Change: T108M
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
| Other mutations in Nipsnap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Nipsnap2
|
APN |
5 |
129,831,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01012:Nipsnap2
|
APN |
5 |
129,823,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
2013-10-07 |
Incidental Mutation