Incidental Mutation 'R0654:Spryd3'
| ID |
62446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spryd3
|
| Ensembl Gene |
ENSMUSG00000036966 |
| Gene Name |
SPRY domain containing 3 |
| Synonyms |
|
| MMRRC Submission |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
97 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102024963-102044669 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 102036969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000154032]
[ENSMUST00000154032]
|
| AlphaFold |
E9Q9B3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139279
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154032
|
| SMART Domains |
Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
38 |
N/A |
INTRINSIC |
|
SPRY
|
76 |
201 |
1.66e-11 |
SMART |
|
SPRY
|
256 |
441 |
3.28e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154032
|
| SMART Domains |
Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
38 |
N/A |
INTRINSIC |
|
SPRY
|
76 |
201 |
1.66e-11 |
SMART |
|
SPRY
|
256 |
441 |
3.28e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156475
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
probably benign |
Het |
|
| Other mutations in Spryd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01638:Spryd3
|
APN |
15 |
102,038,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02138:Spryd3
|
APN |
15 |
102,027,354 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02652:Spryd3
|
APN |
15 |
102,027,425 (GRCm39) |
splice site |
probably null |
|
|
IGL02716:Spryd3
|
APN |
15 |
102,041,896 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02949:Spryd3
|
APN |
15 |
102,026,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
B6819:Spryd3
|
UTSW |
15 |
102,026,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB001:Spryd3
|
UTSW |
15 |
102,026,762 (GRCm39) |
missense |
probably benign |
0.18 |
|
BB011:Spryd3
|
UTSW |
15 |
102,026,762 (GRCm39) |
missense |
probably benign |
0.18 |
|
K7894:Spryd3
|
UTSW |
15 |
102,026,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0111:Spryd3
|
UTSW |
15 |
102,036,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0479:Spryd3
|
UTSW |
15 |
102,038,835 (GRCm39) |
nonsense |
probably null |
|
|
R1014:Spryd3
|
UTSW |
15 |
102,041,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1448:Spryd3
|
UTSW |
15 |
102,026,827 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1510:Spryd3
|
UTSW |
15 |
102,027,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1863:Spryd3
|
UTSW |
15 |
102,026,094 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2069:Spryd3
|
UTSW |
15 |
102,026,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2212:Spryd3
|
UTSW |
15 |
102,038,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4581:Spryd3
|
UTSW |
15 |
102,038,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4892:Spryd3
|
UTSW |
15 |
102,026,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Spryd3
|
UTSW |
15 |
102,037,046 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5586:Spryd3
|
UTSW |
15 |
102,040,372 (GRCm39) |
missense |
probably benign |
|
|
R5771:Spryd3
|
UTSW |
15 |
102,025,342 (GRCm39) |
unclassified |
probably benign |
|
|
R5945:Spryd3
|
UTSW |
15 |
102,026,630 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7080:Spryd3
|
UTSW |
15 |
102,026,627 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7816:Spryd3
|
UTSW |
15 |
102,026,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7924:Spryd3
|
UTSW |
15 |
102,026,762 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8524:Spryd3
|
UTSW |
15 |
102,026,583 (GRCm39) |
nonsense |
probably null |
|
|
R8713:Spryd3
|
UTSW |
15 |
102,041,920 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9027:Spryd3
|
UTSW |
15 |
102,027,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9187:Spryd3
|
UTSW |
15 |
102,039,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Spryd3
|
UTSW |
15 |
102,041,869 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9411:Spryd3
|
UTSW |
15 |
102,027,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGGAGCAACCTCACTCGC -3'
(R):5'- CCCAGCAGTTGGTATGCATTCCC -3'
Sequencing Primer
(F):5'- gctcacaaccatctgccc -3'
(R):5'- TATGCATTCCCTGGGCGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation