Incidental Mutation 'IGL01744:Nipsnap1'
| ID |
152976 |
| 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: 0.378)
|
| Stock # |
IGL01744
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4823951-4844200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4839912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 211
(R211H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038570]
[ENSMUST00000136552]
[ENSMUST00000139737]
|
| AlphaFold |
O55125 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038570
AA Change: R211H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285
AA Change: R211H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIPSNAP
|
185 |
282 |
2.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139737
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
C |
7: 12,284,459 (GRCm39) |
I102T |
possibly damaging |
Het |
| 4933412E24Rik |
C |
A |
15: 59,887,424 (GRCm39) |
A339S |
possibly damaging |
Het |
| Ackr2 |
A |
G |
9: 121,738,185 (GRCm39) |
T187A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,844,956 (GRCm39) |
V777A |
probably benign |
Het |
| Add3 |
T |
A |
19: 53,227,861 (GRCm39) |
D515E |
probably damaging |
Het |
| Aire |
C |
A |
10: 77,872,557 (GRCm39) |
E354* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,502,568 (GRCm39) |
K670R |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,162,563 (GRCm39) |
V287A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,467,230 (GRCm39) |
I851N |
probably damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,707,323 (GRCm39) |
I36F |
possibly damaging |
Het |
| Copa |
A |
G |
1: 171,940,756 (GRCm39) |
E714G |
probably benign |
Het |
| Cth |
A |
T |
3: 157,630,572 (GRCm39) |
N32K |
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,540,434 (GRCm39) |
M349K |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,966 (GRCm39) |
S188G |
unknown |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,508,271 (GRCm39) |
N1161S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,573,917 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
A |
G |
15: 89,031,046 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,417 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
C |
A |
17: 33,802,654 (GRCm39) |
|
probably benign |
Het |
| Or52ab4 |
A |
G |
7: 102,987,435 (GRCm39) |
H58R |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,336,302 (GRCm39) |
I111N |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,175,859 (GRCm39) |
I1841F |
probably damaging |
Het |
| Pirb |
G |
T |
7: 3,720,175 (GRCm39) |
Y399* |
probably null |
Het |
| Ppp1r36 |
A |
T |
12: 76,486,006 (GRCm39) |
N388I |
possibly damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,061 (GRCm39) |
D180G |
possibly damaging |
Het |
| Prss39 |
A |
G |
1: 34,541,280 (GRCm39) |
|
probably null |
Het |
| Spopfm2 |
T |
A |
3: 94,083,544 (GRCm39) |
K89M |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,178,431 (GRCm39) |
V373D |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,889,923 (GRCm39) |
E186G |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,184,029 (GRCm39) |
V997A |
probably benign |
Het |
|
| Other mutations in Nipsnap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Nipsnap1
|
APN |
11 |
4,839,098 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01552:Nipsnap1
|
APN |
11 |
4,839,124 (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 |
2014-02-04 |
Incidental Mutation