Incidental Mutation 'IGL01838:Spred1'
ID |
155028 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spred1
|
Ensembl Gene |
ENSMUSG00000027351 |
Gene Name |
sprouty protein with EVH-1 domain 1, related sequence |
Synonyms |
Spred-1, 5730461F13Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.433)
|
Stock # |
IGL01838
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
116951855-117012760 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 117008062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 323
(S323A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028829
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028829]
[ENSMUST00000110901]
|
AlphaFold |
Q924S8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028829
AA Change: S323A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000028829 Gene: ENSMUSG00000027351 AA Change: S323A
Domain | Start | End | E-Value | Type |
Pfam:WH1
|
10 |
120 |
9.3e-15 |
PFAM |
Pfam:Sprouty
|
332 |
437 |
6e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110901
|
SMART Domains |
Protein: ENSMUSP00000106526 Gene: ENSMUSG00000027351
Domain | Start | End | E-Value | Type |
Pfam:WH1
|
9 |
120 |
2.5e-15 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a membrane-associated protein that is phosphorylated by tyrosine kinases in response to growth factors. The encoded protein acts as a negative regulator of the mitogen-activated protein (MAP) kinase signaling pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] PHENOTYPE: Homozygous null mice display increased airway hyperresponsiveness, eosinophilia, a kinked tail, shortened face, impaired spatial learning and memory, and altered CNS transmission. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
Cpe |
G |
T |
8: 65,047,998 (GRCm39) |
T422K |
possibly damaging |
Het |
Dis3l |
C |
A |
9: 64,215,581 (GRCm39) |
V888L |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,397,297 (GRCm39) |
Y3909* |
probably null |
Het |
Dnajb8 |
G |
A |
6: 88,200,033 (GRCm39) |
V190M |
possibly damaging |
Het |
Grip2 |
A |
G |
6: 91,741,744 (GRCm39) |
V927A |
possibly damaging |
Het |
Hyal3 |
C |
T |
9: 107,463,786 (GRCm39) |
R304C |
possibly damaging |
Het |
Igkv8-21 |
A |
G |
6: 70,292,009 (GRCm39) |
S78P |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,891,100 (GRCm39) |
S356P |
probably damaging |
Het |
Meiob |
T |
C |
17: 25,042,643 (GRCm39) |
V157A |
possibly damaging |
Het |
Mrpl48 |
C |
T |
7: 100,201,860 (GRCm39) |
V35M |
probably damaging |
Het |
Myo9b |
T |
C |
8: 71,787,034 (GRCm39) |
Y739H |
probably damaging |
Het |
Nfyb |
A |
G |
10: 82,586,642 (GRCm39) |
L174S |
probably benign |
Het |
Prm2 |
T |
C |
16: 10,609,672 (GRCm39) |
|
probably benign |
Het |
Prss50 |
T |
C |
9: 110,693,560 (GRCm39) |
L432P |
probably benign |
Het |
Raly |
T |
A |
2: 154,701,590 (GRCm39) |
|
probably benign |
Het |
Scn11a |
A |
T |
9: 119,587,649 (GRCm39) |
M1365K |
probably damaging |
Het |
Slc28a2b |
C |
A |
2: 122,348,464 (GRCm39) |
F270L |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,121,910 (GRCm39) |
E761G |
possibly damaging |
Het |
Thbs3 |
A |
T |
3: 89,126,365 (GRCm39) |
K229* |
probably null |
Het |
Thoc1 |
G |
A |
18: 9,993,386 (GRCm39) |
G582S |
possibly damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Vmn2r114 |
T |
C |
17: 23,515,956 (GRCm39) |
T512A |
probably benign |
Het |
Wee1 |
T |
C |
7: 109,723,744 (GRCm39) |
S220P |
probably benign |
Het |
|
Other mutations in Spred1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00674:Spred1
|
APN |
2 |
117,008,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R0482:Spred1
|
UTSW |
2 |
116,983,459 (GRCm39) |
splice site |
probably null |
|
R1186:Spred1
|
UTSW |
2 |
117,008,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1293:Spred1
|
UTSW |
2 |
117,007,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Spred1
|
UTSW |
2 |
117,005,828 (GRCm39) |
missense |
probably benign |
0.00 |
R3499:Spred1
|
UTSW |
2 |
117,005,867 (GRCm39) |
missense |
probably benign |
|
R4711:Spred1
|
UTSW |
2 |
117,005,866 (GRCm39) |
missense |
probably benign |
0.00 |
R5137:Spred1
|
UTSW |
2 |
116,994,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R5162:Spred1
|
UTSW |
2 |
117,008,102 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5517:Spred1
|
UTSW |
2 |
117,008,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R5665:Spred1
|
UTSW |
2 |
116,983,486 (GRCm39) |
nonsense |
probably null |
|
R7577:Spred1
|
UTSW |
2 |
117,007,806 (GRCm39) |
missense |
probably benign |
0.09 |
R7769:Spred1
|
UTSW |
2 |
117,007,930 (GRCm39) |
missense |
probably benign |
|
R9233:Spred1
|
UTSW |
2 |
117,002,644 (GRCm39) |
missense |
unknown |
|
R9292:Spred1
|
UTSW |
2 |
117,005,832 (GRCm39) |
missense |
probably benign |
0.11 |
R9465:Spred1
|
UTSW |
2 |
116,983,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2014-02-04 |