Incidental Mutation 'IGL01938:Nipsnap1'
| ID |
180744 |
| 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 # |
IGL01938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4823951-4844200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4843134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 269
(H269Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038237]
[ENSMUST00000038570]
[ENSMUST00000101615]
[ENSMUST00000136552]
[ENSMUST00000139737]
|
| AlphaFold |
O55125 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038237
|
| SMART Domains |
Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FimP
|
97 |
452 |
1.1e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038570
AA Change: H269Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285
AA Change: H269Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIPSNAP
|
185 |
282 |
2.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101615
|
| SMART Domains |
Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
41 |
N/A |
INTRINSIC |
|
Pfam:FimP
|
48 |
405 |
7.5e-142 |
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,119,567 (GRCm39) |
T108I |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
| Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,483 (GRCm39) |
V457A |
probably benign |
Het |
| Flii |
T |
C |
11: 60,605,942 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,858,714 (GRCm39) |
Y286C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
| Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
| Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,547,600 (GRCm39) |
S24P |
possibly damaging |
Het |
| Smyd2 |
A |
G |
1: 189,621,079 (GRCm39) |
V213A |
probably benign |
Het |
| Sult1c2 |
C |
T |
17: 54,138,954 (GRCm39) |
V208M |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
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 |
|
IGL01744:Nipsnap1
|
APN |
11 |
4,839,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation