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 |
Incidental Mutation