Incidental Mutation 'IGL01552:Nipsnap1'
| ID |
90604 |
| 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 # |
IGL01552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4823951-4844200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4839124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 135
(S135C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038570]
[ENSMUST00000136552]
[ENSMUST00000139737]
|
| AlphaFold |
O55125 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038570
AA Change: S156C
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049338
Gene: ENSMUSG00000034285
AA Change: S156C
| 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 damaging
Transcript: ENSMUST00000139737
AA Change: S135C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
| Bivm |
A |
G |
1: 44,165,933 (GRCm39) |
N128D |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,667,040 (GRCm39) |
Y412H |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,056,164 (GRCm39) |
G330V |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,206 (GRCm39) |
H155R |
probably damaging |
Het |
| Elapor1 |
A |
G |
3: 108,388,628 (GRCm39) |
W252R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,783,000 (GRCm39) |
V687D |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,748,510 (GRCm39) |
|
probably null |
Het |
| Gfpt2 |
G |
T |
11: 49,695,832 (GRCm39) |
E21* |
probably null |
Het |
| Gm10197 |
C |
T |
19: 53,360,122 (GRCm39) |
V26I |
possibly damaging |
Het |
| Golim4 |
T |
C |
3: 75,863,502 (GRCm39) |
E35G |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,029,784 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,097,136 (GRCm39) |
|
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,161 (GRCm39) |
M734T |
probably benign |
Het |
| Klk1b27 |
C |
T |
7: 43,704,039 (GRCm39) |
L61F |
probably damaging |
Het |
| Lamtor5 |
T |
C |
3: 107,186,324 (GRCm39) |
V31A |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,424,379 (GRCm39) |
L769* |
probably null |
Het |
| Or4k35 |
C |
A |
2: 111,100,257 (GRCm39) |
G152C |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,467,083 (GRCm39) |
H452L |
probably benign |
Het |
| Rab34 |
C |
T |
11: 78,082,264 (GRCm39) |
A202V |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,656,228 (GRCm39) |
T1923S |
possibly damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,582,605 (GRCm39) |
Q195R |
probably benign |
Het |
| Sik2 |
C |
A |
9: 50,828,822 (GRCm39) |
|
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,961,286 (GRCm39) |
V111A |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,933,432 (GRCm39) |
K451R |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,884,903 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
G |
A |
10: 127,561,970 (GRCm39) |
E25K |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,888,645 (GRCm39) |
V1807A |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,705,687 (GRCm39) |
|
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,802,820 (GRCm39) |
E464G |
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 |
|
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 |
2013-12-09 |
Incidental Mutation