Incidental Mutation 'R1261:Nipsnap3b'
ID |
151593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nipsnap3b
|
Ensembl Gene |
ENSMUSG00000015247 |
Gene Name |
nipsnap homolog 3B |
Synonyms |
2700063N13Rik |
MMRRC Submission |
039328-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R1261 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
53011932-53022060 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 53015166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 71
(G71V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103292
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015391]
[ENSMUST00000107665]
|
AlphaFold |
Q9CQE1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015391
AA Change: G71V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000015391 Gene: ENSMUSG00000015247 AA Change: G71V
Domain | Start | End | E-Value | Type |
Pfam:NIPSNAP
|
37 |
136 |
1.5e-32 |
PFAM |
Pfam:NIPSNAP
|
146 |
245 |
5.5e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107665
AA Change: G71V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103292 Gene: ENSMUSG00000015247 AA Change: G71V
Domain | Start | End | E-Value | Type |
Pfam:NIPSNAP
|
37 |
136 |
2.2e-30 |
PFAM |
Pfam:NIPSNAP
|
134 |
195 |
8.5e-16 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,912,470 (GRCm39) |
V114A |
probably benign |
Het |
Arhgef38 |
T |
C |
3: 132,866,624 (GRCm39) |
E171G |
possibly damaging |
Het |
Arsi |
A |
G |
18: 61,049,743 (GRCm39) |
T209A |
probably damaging |
Het |
Bmp3 |
A |
T |
5: 99,027,785 (GRCm39) |
R468S |
probably damaging |
Het |
Cenpk |
T |
A |
13: 104,367,293 (GRCm39) |
V43E |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cul9 |
G |
T |
17: 46,836,708 (GRCm39) |
L1106M |
probably damaging |
Het |
Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
Enpp3 |
A |
T |
10: 24,650,832 (GRCm39) |
V768E |
probably damaging |
Het |
Klk1b5 |
T |
C |
7: 43,494,714 (GRCm39) |
S66P |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,069,998 (GRCm39) |
D6G |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,463,003 (GRCm39) |
K453R |
probably benign |
Het |
Oas1h |
A |
G |
5: 121,009,930 (GRCm39) |
E335G |
probably benign |
Het |
Or5g25 |
A |
C |
2: 85,478,143 (GRCm39) |
I174S |
probably damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Slc10a1 |
T |
A |
12: 81,014,604 (GRCm39) |
M39L |
probably damaging |
Het |
Tas1r2 |
G |
A |
4: 139,382,599 (GRCm39) |
R79Q |
probably damaging |
Het |
Thoc2l |
A |
G |
5: 104,668,501 (GRCm39) |
T1008A |
probably damaging |
Het |
Tmprss11d |
T |
C |
5: 86,457,239 (GRCm39) |
D140G |
possibly damaging |
Het |
|
Other mutations in Nipsnap3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03032:Nipsnap3b
|
APN |
4 |
53,015,016 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0008:Nipsnap3b
|
UTSW |
4 |
53,015,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Nipsnap3b
|
UTSW |
4 |
53,015,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R0148:Nipsnap3b
|
UTSW |
4 |
53,017,088 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0518:Nipsnap3b
|
UTSW |
4 |
53,021,343 (GRCm39) |
missense |
probably damaging |
0.99 |
R1262:Nipsnap3b
|
UTSW |
4 |
53,015,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Nipsnap3b
|
UTSW |
4 |
53,017,213 (GRCm39) |
splice site |
probably benign |
|
R5861:Nipsnap3b
|
UTSW |
4 |
53,021,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R6213:Nipsnap3b
|
UTSW |
4 |
53,017,066 (GRCm39) |
missense |
probably benign |
0.01 |
R6950:Nipsnap3b
|
UTSW |
4 |
53,015,136 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7076:Nipsnap3b
|
UTSW |
4 |
53,021,095 (GRCm39) |
splice site |
probably null |
|
R8397:Nipsnap3b
|
UTSW |
4 |
53,012,049 (GRCm39) |
critical splice donor site |
probably null |
|
R9125:Nipsnap3b
|
UTSW |
4 |
53,021,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTATGTTCACCTTTTGCTACAGGC -3'
(R):5'- CACGAGGACATTCTCAATTCCTCTGC -3'
Sequencing Primer
(F):5'- TTTTGCTACAGGCCCCAGG -3'
(R):5'- AAGCTGATGGTCAGATATCCTCTC -3'
|
Posted On |
2014-01-29 |