Incidental Mutation 'R0560:Bspry'
| ID |
45824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bspry
|
| Ensembl Gene |
ENSMUSG00000028392 |
| Gene Name |
B-box and SPRY domain containing |
| Synonyms |
zetin 1 |
| MMRRC Submission |
038752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0560 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62398290-62415535 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62404686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 161
(R161G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030088]
[ENSMUST00000107449]
[ENSMUST00000132237]
|
| AlphaFold |
Q80YW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030088
AA Change: R161G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030088
Gene: ENSMUSG00000028392
AA Change: R161G
| 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 damaging
Transcript: ENSMUST00000107449
AA Change: R161G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103073
Gene: ENSMUSG00000028392
AA Change: R161G
| 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 |
probably benign
Transcript: ENSMUST00000132237
|
| SMART Domains |
Protein: ENSMUSP00000119504
Gene: ENSMUSG00000028392
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
60 |
N/A |
INTRINSIC |
|
Pfam:zf-B_box
|
65 |
107 |
2e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (26/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
T |
C |
12: 8,055,101 (GRCm39) |
Y1334H |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,926,706 (GRCm39) |
T159A |
possibly damaging |
Het |
| Asb18 |
A |
C |
1: 89,942,250 (GRCm39) |
V17G |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,413,460 (GRCm39) |
K284E |
probably benign |
Het |
| Ccdc138 |
A |
G |
10: 58,411,539 (GRCm39) |
T636A |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,433,491 (GRCm39) |
W1140R |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,857,936 (GRCm39) |
T479A |
probably damaging |
Het |
| Dele1 |
T |
A |
18: 38,387,551 (GRCm39) |
L230Q |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,753,305 (GRCm39) |
S434P |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,122,035 (GRCm39) |
V611A |
probably benign |
Het |
| Epb41l3 |
T |
G |
17: 69,581,892 (GRCm39) |
|
probably null |
Het |
| Fam161b |
C |
T |
12: 84,404,492 (GRCm39) |
D63N |
probably damaging |
Het |
| Gm5422 |
G |
A |
10: 31,125,240 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,156,449 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
A |
14: 79,644,290 (GRCm39) |
D199E |
probably damaging |
Het |
| Myorg |
G |
A |
4: 41,498,167 (GRCm39) |
R488W |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Ncf2 |
T |
A |
1: 152,697,273 (GRCm39) |
Y47N |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,726 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
G |
T |
2: 130,912,266 (GRCm39) |
T1692N |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,139,092 (GRCm39) |
N284S |
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,103,978 (GRCm39) |
F283S |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,154 (GRCm39) |
F2297S |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,058,922 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,780,760 (GRCm39) |
E3957G |
probably damaging |
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 |
|
R1919:Bspry
|
UTSW |
4 |
62,413,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Bspry
|
UTSW |
4 |
62,415,220 (GRCm39) |
missense |
probably benign |
0.36 |
|
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'- ACCCTGACCACTGGGAGTTAGAAG -3'
(R):5'- TCATGTCCACCATGTTGGTGCG -3'
Sequencing Primer
(F):5'- ATGACCTTCTGAGACATGGC -3'
(R):5'- CATGTTGGTGCGGAGGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation