Incidental Mutation 'IGL00546:Nipsnap1'
| ID |
12362 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nipsnap1
|
| Ensembl Gene |
ENSMUSG00000034285 |
| Gene Name |
nipsnap homolog 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
IGL00546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4823951-4844200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4839098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 126
(E126G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038570]
[ENSMUST00000136552]
[ENSMUST00000139737]
|
| AlphaFold |
O55125 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038570
AA Change: E147G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285
AA Change: E147G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIPSNAP
|
185 |
282 |
2.7e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135405
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136552
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139737
AA Change: E126G
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183479
|
| 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. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele treated with nocistatin fail to exhibit suppression of neuropeptide nociceptin/orphanin FQ-induced tactile allodynia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
T |
C |
17: 48,401,096 (GRCm39) |
V127A |
possibly damaging |
Het |
| 9130008F23Rik |
C |
A |
17: 41,191,004 (GRCm39) |
V142L |
possibly damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,082 (GRCm39) |
T776A |
probably benign |
Het |
| Arid4a |
T |
A |
12: 71,122,445 (GRCm39) |
V942E |
probably benign |
Het |
| Bdnf |
C |
T |
2: 109,553,892 (GRCm39) |
P89S |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,652,077 (GRCm39) |
D302G |
probably damaging |
Het |
| Cnot6 |
A |
T |
11: 49,576,093 (GRCm39) |
S158T |
probably benign |
Het |
| Dbt |
A |
C |
3: 116,332,930 (GRCm39) |
K250Q |
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,321 (GRCm39) |
I171M |
probably benign |
Het |
| Ints14 |
A |
T |
9: 64,880,074 (GRCm39) |
N196I |
probably benign |
Het |
| Krt79 |
G |
T |
15: 101,838,308 (GRCm39) |
N482K |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,493,672 (GRCm39) |
A678T |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,170,177 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
C |
A |
16: 13,221,086 (GRCm39) |
A754D |
probably benign |
Het |
| Mrtfb |
T |
G |
16: 13,221,089 (GRCm39) |
L766R |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,569 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,748 (GRCm39) |
M54K |
probably benign |
Het |
| Slc15a5 |
A |
G |
6: 138,020,536 (GRCm39) |
Y266H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,697,817 (GRCm39) |
D73Y |
probably damaging |
Het |
|
| Other mutations in Nipsnap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01552:Nipsnap1
|
APN |
11 |
4,839,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01744:Nipsnap1
|
APN |
11 |
4,839,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01938:Nipsnap1
|
APN |
11 |
4,843,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03328:Nipsnap1
|
APN |
11 |
4,834,096 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0355:Nipsnap1
|
UTSW |
11 |
4,839,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1126:Nipsnap1
|
UTSW |
11 |
4,834,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1815:Nipsnap1
|
UTSW |
11 |
4,839,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Nipsnap1
|
UTSW |
11 |
4,838,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2205:Nipsnap1
|
UTSW |
11 |
4,839,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4852:Nipsnap1
|
UTSW |
11 |
4,841,468 (GRCm39) |
nonsense |
probably null |
|
|
R5776:Nipsnap1
|
UTSW |
11 |
4,838,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Nipsnap1
|
UTSW |
11 |
4,838,895 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7122:Nipsnap1
|
UTSW |
11 |
4,833,366 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7263:Nipsnap1
|
UTSW |
11 |
4,832,960 (GRCm39) |
unclassified |
probably benign |
|
|
R7538:Nipsnap1
|
UTSW |
11 |
4,834,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Nipsnap1
|
UTSW |
11 |
4,839,145 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8166:Nipsnap1
|
UTSW |
11 |
4,834,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9164:Nipsnap1
|
UTSW |
11 |
4,839,969 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9312:Nipsnap1
|
UTSW |
11 |
4,839,902 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
X0011:Nipsnap1
|
UTSW |
11 |
4,824,069 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Nipsnap1
|
UTSW |
11 |
4,839,956 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation