Incidental Mutation 'IGL01321:Nipsnap2'
| ID |
74037 |
| 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 # |
IGL01321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129802127-129835391 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 129834205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 282
(*282R)
|
| 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 null
Transcript: ENSMUST00000086046
AA Change: *282R
|
| SMART Domains |
Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432
AA Change: *282R
| 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 null
Transcript: ENSMUST00000124342
AA Change: *282R
|
| SMART Domains |
Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432
AA Change: *282R
| 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 null
Transcript: ENSMUST00000186265
AA Change: *282R
|
| SMART Domains |
Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
AA Change: *282R
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
A |
G |
4: 49,380,269 (GRCm39) |
S370P |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,696,363 (GRCm39) |
R265G |
probably benign |
Het |
| Cd2ap |
T |
C |
17: 43,156,280 (GRCm39) |
S86G |
possibly damaging |
Het |
| Cers3 |
A |
C |
7: 66,435,751 (GRCm39) |
|
probably benign |
Het |
| Dnaaf2 |
G |
T |
12: 69,243,376 (GRCm39) |
P562T |
probably damaging |
Het |
| Dnajc21 |
A |
C |
15: 10,447,188 (GRCm39) |
V520G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,592,041 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,211 (GRCm39) |
N733D |
probably benign |
Het |
| Gm5499 |
T |
A |
17: 87,385,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
T |
C |
3: 107,848,379 (GRCm39) |
Q180R |
probably benign |
Het |
| Hdlbp |
G |
A |
1: 93,351,524 (GRCm39) |
R460W |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,749,031 (GRCm39) |
D40G |
probably damaging |
Het |
| Igsf3 |
T |
A |
3: 101,334,338 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,383,147 (GRCm39) |
T158A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,529,426 (GRCm39) |
R167* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,334,567 (GRCm39) |
C4397R |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,402,825 (GRCm39) |
S583P |
probably benign |
Het |
| Mucl3 |
A |
T |
17: 35,947,758 (GRCm39) |
N490K |
probably damaging |
Het |
| Or2ag19 |
T |
C |
7: 106,443,956 (GRCm39) |
L46P |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,589 (GRCm39) |
C178S |
probably damaging |
Het |
| Parp14 |
T |
A |
16: 35,676,929 (GRCm39) |
Q1013L |
probably benign |
Het |
| Pdzd8 |
A |
C |
19: 59,289,961 (GRCm39) |
S480A |
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,214,339 (GRCm39) |
S1609R |
probably damaging |
Het |
| Pkp4 |
G |
A |
2: 59,180,971 (GRCm39) |
|
probably null |
Het |
| Plpp2 |
A |
T |
10: 79,363,327 (GRCm39) |
V106D |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,863,816 (GRCm39) |
Y724C |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,501 (GRCm39) |
L852* |
probably null |
Het |
| Samd9l |
T |
A |
6: 3,376,259 (GRCm39) |
D334V |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,218,257 (GRCm39) |
T360M |
probably damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,070,611 (GRCm39) |
D5V |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,568 (GRCm39) |
I572T |
probably benign |
Het |
| Tma16 |
G |
A |
8: 66,929,512 (GRCm39) |
L161F |
probably benign |
Het |
| Trappc2b |
A |
T |
11: 51,576,670 (GRCm39) |
V76D |
probably damaging |
Het |
| Trim69 |
A |
T |
2: 122,003,765 (GRCm39) |
E238V |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,388 (GRCm39) |
T205A |
probably benign |
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 |
|
IGL01320:Nipsnap2
|
APN |
5 |
129,821,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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