Incidental Mutation 'IGL02949:Spryd3'
| ID |
364892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spryd3
|
| Ensembl Gene |
ENSMUSG00000036966 |
| Gene Name |
SPRY domain containing 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
102024963-102044669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102026544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 376
(E376K)
|
| 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: E376K
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000121493
Gene: ENSMUSG00000036966
AA Change: E376K
| 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: ENSMUST00000229800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230474
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
| Abhd5 |
T |
C |
9: 122,206,980 (GRCm39) |
F89L |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
| B4galt2 |
C |
T |
4: 117,738,602 (GRCm39) |
A72T |
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,857,938 (GRCm39) |
Y1081C |
probably damaging |
Het |
| Coq8b |
T |
C |
7: 26,956,038 (GRCm39) |
V405A |
possibly damaging |
Het |
| Ddah2 |
A |
G |
17: 35,280,776 (GRCm39) |
K251E |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,272,331 (GRCm39) |
V1045A |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,332,476 (GRCm39) |
M662K |
probably benign |
Het |
| Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,483,064 (GRCm39) |
N198S |
probably benign |
Het |
| Hnrnpa1 |
T |
C |
15: 103,150,538 (GRCm39) |
V163A |
probably damaging |
Het |
| Hr |
C |
T |
14: 70,797,225 (GRCm39) |
R543C |
possibly damaging |
Het |
| Lct |
C |
T |
1: 128,240,869 (GRCm39) |
V245M |
probably benign |
Het |
| Lpl |
G |
A |
8: 69,345,400 (GRCm39) |
V135M |
probably damaging |
Het |
| Mblac1 |
T |
A |
5: 138,193,119 (GRCm39) |
C154S |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,793,039 (GRCm39) |
F396S |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,293,168 (GRCm39) |
H314L |
probably damaging |
Het |
| Msantd4 |
T |
A |
9: 4,385,196 (GRCm39) |
L307Q |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,878 (GRCm39) |
D662G |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,109,837 (GRCm39) |
S1648N |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,366,427 (GRCm39) |
I209V |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,549,590 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
T |
A |
10: 89,496,163 (GRCm39) |
N229I |
possibly damaging |
Het |
| Srr |
T |
G |
11: 74,799,563 (GRCm39) |
E304A |
probably benign |
Het |
| Srsf1 |
A |
G |
11: 87,940,352 (GRCm39) |
|
probably benign |
Het |
| Txnrd2 |
T |
G |
16: 18,296,456 (GRCm39) |
S473A |
probably benign |
Het |
| Wdr18 |
T |
A |
10: 79,800,889 (GRCm39) |
C151S |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,874,848 (GRCm39) |
T351I |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation