Incidental Mutation 'R3038:Bspry'
ID |
264876 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bspry
|
Ensembl Gene |
ENSMUSG00000028392 |
Gene Name |
B-box and SPRY domain containing |
Synonyms |
zetin 1 |
MMRRC Submission |
040554-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R3038 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
62398290-62415535 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62415220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 468
(I468V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030088
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030088]
[ENSMUST00000037820]
[ENSMUST00000107449]
|
AlphaFold |
Q80YW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030088
AA Change: I468V
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030088 Gene: ENSMUSG00000028392 AA Change: I468V
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
60 |
N/A |
INTRINSIC |
Pfam:zf-B_box
|
65 |
107 |
1.2e-8 |
PFAM |
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
PRY
|
277 |
330 |
1.79e-15 |
SMART |
Pfam:SPRY
|
333 |
451 |
3.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037820
|
SMART Domains |
Protein: ENSMUSP00000036337 Gene: ENSMUSG00000038422
Domain | Start | End | E-Value | Type |
Pfam:Hydrolase
|
7 |
205 |
1.3e-15 |
PFAM |
Pfam:HAD_2
|
10 |
211 |
8.9e-20 |
PFAM |
Pfam:Hydrolase_like
|
164 |
237 |
1e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107449
|
SMART Domains |
Protein: ENSMUSP00000103073 Gene: ENSMUSG00000028392
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
60 |
N/A |
INTRINSIC |
Pfam:zf-B_box
|
65 |
107 |
4.4e-9 |
PFAM |
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
PRY
|
277 |
330 |
1.79e-15 |
SMART |
Pfam:SPRY
|
331 |
452 |
1.1e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140038
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cavin2 |
T |
A |
1: 51,340,416 (GRCm39) |
N364K |
possibly damaging |
Het |
Ces1f |
T |
A |
8: 93,983,226 (GRCm39) |
N506I |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,369,436 (GRCm39) |
Q4353L |
probably damaging |
Het |
Dsc3 |
T |
C |
18: 20,124,617 (GRCm39) |
T36A |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,309,321 (GRCm39) |
T4038A |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,297,790 (GRCm39) |
I1083V |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Mrgpra1 |
G |
A |
7: 46,984,744 (GRCm39) |
Q312* |
probably null |
Het |
Pcdha1 |
T |
A |
18: 37,064,064 (GRCm39) |
F243I |
probably damaging |
Het |
Ppp1r18 |
T |
C |
17: 36,179,274 (GRCm39) |
L383P |
probably damaging |
Het |
Tmed9 |
A |
G |
13: 55,744,792 (GRCm39) |
K207E |
probably damaging |
Het |
Tnfrsf19 |
A |
G |
14: 61,209,512 (GRCm39) |
S253P |
probably benign |
Het |
Tspear |
T |
A |
10: 77,722,273 (GRCm39) |
Y624* |
probably null |
Het |
Vmn2r16 |
G |
A |
5: 109,487,199 (GRCm39) |
C140Y |
probably damaging |
Het |
Vwa7 |
T |
C |
17: 35,241,637 (GRCm39) |
V424A |
probably damaging |
Het |
Zgpat |
TGGAGGAGGAGGAGGAGGA |
TGGAGGAGGAGGAGGA |
2: 181,007,811 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Bspry |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Bspry
|
APN |
4 |
62,414,342 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02186:Bspry
|
APN |
4 |
62,414,226 (GRCm39) |
splice site |
probably benign |
|
IGL02501:Bspry
|
APN |
4 |
62,414,672 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02644:Bspry
|
APN |
4 |
62,414,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R0041:Bspry
|
UTSW |
4 |
62,404,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R0306:Bspry
|
UTSW |
4 |
62,414,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R0560:Bspry
|
UTSW |
4 |
62,404,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R1919:Bspry
|
UTSW |
4 |
62,413,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R4431:Bspry
|
UTSW |
4 |
62,400,904 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4690:Bspry
|
UTSW |
4 |
62,404,762 (GRCm39) |
missense |
probably damaging |
0.98 |
R4735:Bspry
|
UTSW |
4 |
62,404,762 (GRCm39) |
missense |
probably damaging |
0.98 |
R5432:Bspry
|
UTSW |
4 |
62,400,952 (GRCm39) |
missense |
probably benign |
0.01 |
R5684:Bspry
|
UTSW |
4 |
62,414,519 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7209:Bspry
|
UTSW |
4 |
62,404,852 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7680:Bspry
|
UTSW |
4 |
62,414,828 (GRCm39) |
makesense |
probably null |
|
R7708:Bspry
|
UTSW |
4 |
62,414,337 (GRCm39) |
missense |
probably benign |
0.36 |
R9631:Bspry
|
UTSW |
4 |
62,400,955 (GRCm39) |
critical splice donor site |
probably null |
|
X0025:Bspry
|
UTSW |
4 |
62,398,435 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTACCTTGTGCATGGCTAG -3'
(R):5'- TGTTCAGCAGCACAGTGAG -3'
Sequencing Primer
(F):5'- CCTTGTGCATGGCTAGTATACAAC -3'
(R):5'- AGGGGGAATGTTTGTCACCC -3'
|
Posted On |
2015-02-05 |