Incidental Mutation 'IGL01638:Spryd3'
ID |
93153 |
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 # |
IGL01638
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
102024963-102044669 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 102038711 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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
probably null |
Het |
|
Other mutations in Spryd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-12-09 |