Incidental Mutation 'IGL00674:Spred1'
| ID |
14228 |
| 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 # |
IGL00674
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
116951855-117012760 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 117008339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 415
(P415L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028829]
|
| AlphaFold |
Q924S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028829
AA Change: P415L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028829
Gene: ENSMUSG00000027351
AA Change: P415L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WH1
|
10 |
120 |
9.3e-15 |
PFAM |
|
Pfam:Sprouty
|
332 |
437 |
6e-29 |
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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
T |
A |
15: 57,971,782 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Cd2ap |
A |
T |
17: 43,119,676 (GRCm39) |
N492K |
probably benign |
Het |
| Fam114a1 |
T |
A |
5: 65,137,347 (GRCm39) |
S97T |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,233,658 (GRCm39) |
M324I |
possibly damaging |
Het |
| Gpx6 |
A |
G |
13: 21,497,978 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,329,949 (GRCm39) |
T108A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,899,773 (GRCm39) |
I26T |
possibly damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,303 (GRCm39) |
G454S |
probably benign |
Het |
| Mrpl20 |
T |
C |
4: 155,893,041 (GRCm39) |
F91L |
probably benign |
Het |
| Nt5c3b |
A |
T |
11: 100,323,735 (GRCm39) |
|
probably benign |
Het |
| Osbpl2 |
T |
C |
2: 179,792,051 (GRCm39) |
Y252H |
possibly damaging |
Het |
| Pard3 |
A |
G |
8: 128,115,159 (GRCm39) |
N626D |
probably damaging |
Het |
| Pbrm1 |
C |
T |
14: 30,840,733 (GRCm39) |
P1612S |
probably damaging |
Het |
| Prl3d3 |
T |
C |
13: 27,343,114 (GRCm39) |
|
probably null |
Het |
| Sall4 |
T |
C |
2: 168,597,700 (GRCm39) |
D380G |
probably damaging |
Het |
| Sema3b |
A |
C |
9: 107,481,240 (GRCm39) |
|
probably null |
Het |
| Tnc |
T |
A |
4: 63,883,844 (GRCm39) |
D1958V |
probably damaging |
Het |
| Tnfsf15 |
A |
G |
4: 63,652,483 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,229,876 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Spred1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01838:Spred1
|
APN |
2 |
117,008,062 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2012-12-06 |
Incidental Mutation