Incidental Mutation 'R1126:Nipsnap1'
ID |
96181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nipsnap1
|
Ensembl Gene |
ENSMUSG00000034285 |
Gene Name |
nipsnap homolog 1 |
Synonyms |
|
MMRRC Submission |
039199-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.319)
|
Stock # |
R1126 (G1)
|
Quality Score |
196 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
4823951-4844200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4834081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 90
(N90S)
|
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: N111S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000049338 Gene: ENSMUSG00000034285 AA Change: N111S
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 |
probably benign
Transcript: ENSMUST00000139737
AA Change: N90S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149603
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,759,062 (GRCm39) |
E1226G |
probably damaging |
Het |
Arhgef40 |
G |
T |
14: 52,234,583 (GRCm39) |
S962I |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,822,169 (GRCm39) |
M477K |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,770,222 (GRCm39) |
|
probably null |
Het |
Ephb3 |
T |
A |
16: 21,041,226 (GRCm39) |
M727K |
possibly damaging |
Het |
Exo5 |
A |
T |
4: 120,779,322 (GRCm39) |
I181N |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,163,112 (GRCm39) |
|
probably null |
Het |
Gas6 |
T |
C |
8: 13,533,700 (GRCm39) |
N103S |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,699 (GRCm39) |
C140* |
probably null |
Het |
Il6st |
T |
C |
13: 112,640,266 (GRCm39) |
Y681H |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,611,918 (GRCm39) |
|
probably null |
Het |
Kdm5b |
C |
T |
1: 134,541,729 (GRCm39) |
A768V |
possibly damaging |
Het |
Krt87 |
A |
T |
15: 101,385,363 (GRCm39) |
N336K |
probably damaging |
Het |
Mfsd6 |
A |
G |
1: 52,748,670 (GRCm39) |
V65A |
probably benign |
Het |
Nlrp9a |
C |
A |
7: 26,260,166 (GRCm39) |
D640E |
probably benign |
Het |
Or11h4b |
C |
T |
14: 50,918,720 (GRCm39) |
A124T |
possibly damaging |
Het |
Or1l4 |
A |
T |
2: 37,092,113 (GRCm39) |
M287L |
probably benign |
Het |
Or2j3 |
A |
G |
17: 38,615,579 (GRCm39) |
C258R |
probably damaging |
Het |
Or5p53 |
A |
C |
7: 107,533,578 (GRCm39) |
M284L |
possibly damaging |
Het |
Parp9 |
G |
A |
16: 35,768,110 (GRCm39) |
V97I |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,458,306 (GRCm39) |
T12A |
possibly damaging |
Het |
Penk |
T |
C |
4: 4,138,119 (GRCm39) |
T9A |
probably benign |
Het |
Pilrb2 |
T |
C |
5: 137,869,222 (GRCm39) |
D126G |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,700,515 (GRCm39) |
V1807E |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 4,906,795 (GRCm39) |
E450G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,034 (GRCm39) |
R703G |
probably damaging |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,984,476 (GRCm39) |
D92G |
probably benign |
Het |
Rp1l1 |
G |
A |
14: 64,267,918 (GRCm39) |
G1168D |
probably damaging |
Het |
Saxo1 |
T |
A |
4: 86,397,224 (GRCm39) |
T105S |
probably benign |
Het |
Slc39a2 |
G |
A |
14: 52,131,602 (GRCm39) |
G58R |
probably damaging |
Het |
Tbx6 |
C |
T |
7: 126,383,891 (GRCm39) |
T315I |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,907,715 (GRCm39) |
M99T |
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,718,210 (GRCm39) |
D197G |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,936,357 (GRCm39) |
N193S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,680,347 (GRCm39) |
|
probably benign |
Het |
Vmn1r225 |
A |
G |
17: 20,722,588 (GRCm39) |
I10V |
probably benign |
Het |
Zp3r |
A |
G |
1: 130,546,079 (GRCm39) |
L77P |
probably damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GATGCCTACAACAGTCTGACGTGAG -3'
(R):5'- GCCTGAGAACACTGAGTAGCCAAC -3'
Sequencing Primer
(F):5'- TGTTCTCCAGACACAGTCAAGG -3'
(R):5'- AGGTGTTTGAGTAGGGCAATG -3'
|
Posted On |
2014-01-05 |