Incidental Mutation 'R5246:Spry1'
ID |
401140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spry1
|
Ensembl Gene |
ENSMUSG00000037211 |
Gene Name |
sprouty RTK signaling antagonist 1 |
Synonyms |
sprouty 1, sprouty1 |
MMRRC Submission |
042817-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5246 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
37694096-37698747 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37696916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 53
(Y53C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038569]
[ENSMUST00000108107]
[ENSMUST00000108109]
|
AlphaFold |
Q9QXV9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038569
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049292 Gene: ENSMUSG00000037211 AA Change: Y53C
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
low complexity region
|
106 |
125 |
N/A |
INTRINSIC |
Pfam:Sprouty
|
180 |
304 |
1.3e-33 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108107
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103742 Gene: ENSMUSG00000037211 AA Change: Y53C
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
low complexity region
|
106 |
125 |
N/A |
INTRINSIC |
Pfam:Sprouty
|
180 |
292 |
6.5e-35 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108109
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103744 Gene: ENSMUSG00000037211 AA Change: Y53C
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
low complexity region
|
106 |
125 |
N/A |
INTRINSIC |
Pfam:Sprouty
|
180 |
292 |
6.5e-35 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195887
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199414
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice display postnatal lethality, premature death, abnormal kidney morphology and development with multiple ectopic ureteric buds, multiple ureters, and hydroureter. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
Cep55 |
T |
A |
19: 38,058,119 (GRCm39) |
D237E |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,525,434 (GRCm39) |
S503T |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
Mup5 |
T |
A |
4: 61,752,874 (GRCm39) |
I50L |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
Rint1 |
T |
A |
5: 24,005,809 (GRCm39) |
W164R |
probably damaging |
Het |
Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,936,646 (GRCm39) |
E435G |
probably benign |
Het |
Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
Septin7 |
T |
A |
9: 25,210,832 (GRCm39) |
L289M |
probably damaging |
Het |
Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
Tmcc1 |
A |
G |
6: 116,020,381 (GRCm39) |
V142A |
probably damaging |
Het |
Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
Wdr25 |
A |
G |
12: 108,993,382 (GRCm39) |
I533V |
probably benign |
Het |
Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
possibly damaging |
Het |
|
Other mutations in Spry1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R4883:Spry1
|
UTSW |
3 |
37,696,868 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6029:Spry1
|
UTSW |
3 |
37,696,997 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6649:Spry1
|
UTSW |
3 |
37,696,871 (GRCm39) |
missense |
probably damaging |
0.99 |
R6653:Spry1
|
UTSW |
3 |
37,696,871 (GRCm39) |
missense |
probably damaging |
0.99 |
R6914:Spry1
|
UTSW |
3 |
37,697,193 (GRCm39) |
missense |
probably benign |
0.00 |
R6942:Spry1
|
UTSW |
3 |
37,697,193 (GRCm39) |
missense |
probably benign |
0.00 |
RF008:Spry1
|
UTSW |
3 |
37,697,264 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- GATCACTCCACATGGATTCCCC -3'
(R):5'- AATAGGCCCTGCTCAGAAGAC -3'
Sequencing Primer
(F):5'- TGGATTCCCCAAGTCAGCATG -3'
(R):5'- GAAGACACACTGCTGCTGCTC -3'
|
Posted On |
2016-07-06 |