Incidental Mutation 'K7894:Spryd3'
| ID |
26528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spryd3
|
| Ensembl Gene |
ENSMUSG00000036966 |
| Gene Name |
SPRY domain containing 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
K7894 ()
of strain
468
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
15 |
| Chromosomal Location |
102024963-102044669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102026576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 365
(V365A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046144]
[ENSMUST00000154032]
[ENSMUST00000169627]
[ENSMUST00000228958]
[ENSMUST00000230474]
|
| AlphaFold |
E9Q9B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046144
|
| SMART Domains |
Protein: ENSMUSP00000041087
Gene: ENSMUSG00000037003
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
79 |
2.78e-9 |
SMART |
|
SCOP:d1d5ra2
|
128 |
295 |
8e-24 |
SMART |
|
PTEN_C2
|
297 |
424 |
6.63e-40 |
SMART |
|
low complexity region
|
494 |
513 |
N/A |
INTRINSIC |
|
SH2
|
1136 |
1236 |
1.69e-16 |
SMART |
|
PTB
|
1269 |
1407 |
6.66e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154032
AA Change: V365A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966
AA Change: V365A
| 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 benign
Transcript: ENSMUST00000169627
|
| SMART Domains |
Protein: ENSMUSP00000129146
Gene: ENSMUSG00000037003
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
79 |
2.78e-9 |
SMART |
|
SCOP:d1d5ra2
|
128 |
295 |
8e-24 |
SMART |
|
PTEN_C2
|
297 |
424 |
6.63e-40 |
SMART |
|
low complexity region
|
494 |
513 |
N/A |
INTRINSIC |
|
SH2
|
1129 |
1229 |
1.69e-16 |
SMART |
|
PTB
|
1262 |
1400 |
6.66e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229800
|
| Meta Mutation Damage Score |
0.1162 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.4%
|
| Validation Efficiency |
88% (22/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
CAA |
3: 121,941,517 (GRCm39) |
|
probably null |
Het |
| Acsl4 |
C |
T |
X: 141,111,056 (GRCm39) |
V632I |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,694,083 (GRCm39) |
H398R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,896,579 (GRCm39) |
|
probably benign |
Het |
| Ccpg1 |
T |
C |
9: 72,909,159 (GRCm39) |
|
probably null |
Het |
| Clk4 |
G |
T |
11: 51,166,593 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
C |
T |
11: 22,039,683 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
T |
C |
7: 119,384,494 (GRCm39) |
D669G |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,323 (GRCm39) |
S419P |
possibly damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,739 (GRCm39) |
T104A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,956,513 (GRCm39) |
P304H |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,476,459 (GRCm39) |
Y356C |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,881,338 (GRCm39) |
D151G |
probably damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,702 (GRCm39) |
N176S |
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 |
|
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 |
|
|
R0654:Spryd3
|
UTSW |
15 |
102,036,969 (GRCm39) |
splice site |
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'- GTGTGCTGAGGCTGGAAAATAGACC -3'
(R):5'- TTTGGGCCACGCTGCTACAAAG -3'
Sequencing Primer
(F):5'- GCTGGAAAATAGACCAGGACTCC -3'
(R):5'- GTGGAATCATGTTCCCCCG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation