Incidental Mutation 'IGL02652:Spryd3'
ID |
302216 |
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 # |
IGL02652
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
102024963-102044669 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 102027425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046144]
[ENSMUST00000154032]
[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 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 |
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: ENSMUST00000229800
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230474
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229097
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
A |
T |
17: 68,191,795 (GRCm39) |
D139E |
probably benign |
Het |
Asph |
C |
T |
4: 9,529,984 (GRCm39) |
V347I |
probably benign |
Het |
Ccdc138 |
A |
T |
10: 58,348,901 (GRCm39) |
D149V |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,991,921 (GRCm39) |
|
probably benign |
Het |
Cnnm2 |
G |
A |
19: 46,751,650 (GRCm39) |
R480Q |
probably damaging |
Het |
Col24a1 |
C |
A |
3: 145,198,056 (GRCm39) |
S1321* |
probably null |
Het |
Cops6 |
T |
G |
5: 138,159,700 (GRCm39) |
|
probably null |
Het |
Crim1 |
G |
A |
17: 78,623,106 (GRCm39) |
A435T |
probably damaging |
Het |
Cttn |
G |
T |
7: 143,995,468 (GRCm39) |
Q382K |
probably benign |
Het |
Dhx38 |
A |
G |
8: 110,282,761 (GRCm39) |
L635P |
probably damaging |
Het |
Dmtf1 |
T |
A |
5: 9,171,853 (GRCm39) |
T458S |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,366,333 (GRCm39) |
F2682S |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,072,087 (GRCm39) |
Q2413L |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,561 (GRCm39) |
|
probably null |
Het |
Engase |
C |
T |
11: 118,369,776 (GRCm39) |
P63S |
probably damaging |
Het |
Grik4 |
A |
G |
9: 42,586,573 (GRCm39) |
V94A |
possibly damaging |
Het |
Heatr6 |
T |
C |
11: 83,660,558 (GRCm39) |
V566A |
probably damaging |
Het |
Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
Inpp4b |
G |
A |
8: 82,497,429 (GRCm39) |
|
probably benign |
Het |
Mertk |
A |
G |
2: 128,643,190 (GRCm39) |
E863G |
probably benign |
Het |
Muc19 |
T |
A |
15: 91,762,009 (GRCm39) |
|
noncoding transcript |
Het |
Myo9a |
T |
A |
9: 59,771,211 (GRCm39) |
F928I |
probably damaging |
Het |
Nyap2 |
T |
C |
1: 81,219,435 (GRCm39) |
Y486H |
probably damaging |
Het |
Oas1e |
T |
C |
5: 120,933,470 (GRCm39) |
R32G |
probably damaging |
Het |
Or14j2 |
A |
T |
17: 37,885,836 (GRCm39) |
Y159* |
probably null |
Het |
Or4k48 |
A |
G |
2: 111,475,839 (GRCm39) |
F168L |
probably benign |
Het |
Osbpl6 |
G |
A |
2: 76,423,798 (GRCm39) |
R848Q |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,157,546 (GRCm39) |
T2388I |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,207,435 (GRCm39) |
K308E |
probably benign |
Het |
Rgsl1 |
A |
G |
1: 153,701,236 (GRCm39) |
L441P |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,805,668 (GRCm39) |
|
probably null |
Het |
Scn2a |
T |
A |
2: 65,532,382 (GRCm39) |
S665T |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,911,357 (GRCm39) |
I926V |
probably damaging |
Het |
Snrpg |
T |
C |
6: 86,353,510 (GRCm39) |
I30T |
probably damaging |
Het |
Svil |
A |
G |
18: 5,114,531 (GRCm39) |
D2036G |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,067,868 (GRCm39) |
I551F |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,489,971 (GRCm39) |
|
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,864,639 (GRCm39) |
F915S |
probably damaging |
Het |
Try5 |
C |
A |
6: 41,288,342 (GRCm39) |
V204L |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,749 (GRCm39) |
T362A |
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 |
|
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 |
|
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 |
2015-04-16 |