Incidental Mutation 'R2175:Strap'
| ID |
236823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strap
|
| Ensembl Gene |
ENSMUSG00000030224 |
| Gene Name |
serine/threonine kinase receptor associated protein |
| Synonyms |
C78091, Unrip |
| MMRRC Submission |
040177-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2175 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
137712080-137728928 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137727590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 345
(T345A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064910]
[ENSMUST00000087675]
[ENSMUST00000203216]
[ENSMUST00000203693]
|
| AlphaFold |
Q9Z1Z2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064910
AA Change: T345A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068267
Gene: ENSMUSG00000030224
AA Change: T345A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
3 |
45 |
3.08e0 |
SMART |
|
WD40
|
48 |
87 |
1.88e-4 |
SMART |
|
WD40
|
90 |
128 |
2.38e-6 |
SMART |
|
WD40
|
132 |
170 |
1.01e-4 |
SMART |
|
WD40
|
173 |
210 |
1.27e2 |
SMART |
|
WD40
|
213 |
251 |
3.99e-1 |
SMART |
|
WD40
|
254 |
293 |
5.9e-11 |
SMART |
|
low complexity region
|
324 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087675
|
| SMART Domains |
Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
| Domain | Start | End | E-Value | Type |
|---|
|
DeoC
|
49 |
299 |
1.16e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203216
|
| SMART Domains |
Protein: ENSMUSP00000145264
Gene: ENSMUSG00000030225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DeoC
|
2 |
97 |
1e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204356
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203693
|
| SMART Domains |
Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225
| Domain | Start | End | E-Value | Type |
|---|
|
DeoC
|
49 |
271 |
4.4e-50 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204100
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele die between E10.5 and E12.5 displaying defects in angiogenesis, cardiogenesis, somitogenesis, neural tube closure and embryonic turning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,078,475 (GRCm39) |
Y583F |
probably benign |
Het |
| Adra2a |
A |
G |
19: 54,034,793 (GRCm39) |
T50A |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,592 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,417,363 (GRCm39) |
L83P |
probably damaging |
Het |
| Asxl3 |
T |
C |
18: 22,649,652 (GRCm39) |
L547P |
probably benign |
Het |
| Cox10 |
G |
A |
11: 63,962,475 (GRCm39) |
A122V |
probably benign |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,828 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,842,482 (GRCm39) |
C205* |
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,433 (GRCm39) |
T204S |
possibly damaging |
Het |
| Evi5l |
A |
G |
8: 4,237,269 (GRCm39) |
H124R |
probably damaging |
Het |
| Ext1 |
G |
T |
15: 52,932,124 (GRCm39) |
P726Q |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,614,426 (GRCm39) |
R21G |
probably damaging |
Het |
| Hdac1 |
G |
A |
4: 129,428,463 (GRCm39) |
R36C |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,424,029 (GRCm39) |
Y715H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,583,328 (GRCm39) |
F144S |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,576 (GRCm39) |
I452N |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,634 (GRCm39) |
H6R |
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,940,375 (GRCm39) |
M392K |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,294,837 (GRCm39) |
P28S |
probably damaging |
Het |
| Nfrkb |
A |
G |
9: 31,300,310 (GRCm39) |
T34A |
possibly damaging |
Het |
| Nkx1-1 |
G |
A |
5: 33,588,598 (GRCm39) |
A230V |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,248,500 (GRCm39) |
L34H |
probably damaging |
Het |
| Or5an1b |
T |
A |
19: 12,299,885 (GRCm39) |
Y102F |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,767,867 (GRCm39) |
K2890T |
probably damaging |
Het |
| Siae |
G |
T |
9: 37,539,092 (GRCm39) |
D168Y |
probably damaging |
Het |
| Smarcc1 |
A |
T |
9: 109,993,877 (GRCm39) |
T241S |
possibly damaging |
Het |
| Steap2 |
T |
A |
5: 5,723,501 (GRCm39) |
I460F |
probably damaging |
Het |
| Tex2 |
A |
G |
11: 106,394,513 (GRCm39) |
V1099A |
unknown |
Het |
| Thsd7a |
T |
C |
6: 12,331,943 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Unc80 |
G |
A |
1: 66,716,514 (GRCm39) |
G2878D |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,583,004 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
C |
T |
2: 67,340,258 (GRCm39) |
T833I |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,955,153 (GRCm39) |
S615P |
probably damaging |
Het |
| Zfp148 |
C |
G |
16: 33,317,116 (GRCm39) |
S554* |
probably null |
Het |
|
| Other mutations in Strap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Strap
|
APN |
6 |
137,722,521 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01413:Strap
|
APN |
6 |
137,722,502 (GRCm39) |
splice site |
probably benign |
|
|
IGL01937:Strap
|
APN |
6 |
137,718,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01945:Strap
|
APN |
6 |
137,718,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3911:Strap
|
UTSW |
6 |
137,712,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4484:Strap
|
UTSW |
6 |
137,726,334 (GRCm39) |
intron |
probably benign |
|
|
R4669:Strap
|
UTSW |
6 |
137,712,384 (GRCm39) |
nonsense |
probably null |
|
|
R4875:Strap
|
UTSW |
6 |
137,726,316 (GRCm39) |
intron |
probably benign |
|
|
R7814:Strap
|
UTSW |
6 |
137,718,976 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7887:Strap
|
UTSW |
6 |
137,716,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8338:Strap
|
UTSW |
6 |
137,718,976 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9018:Strap
|
UTSW |
6 |
137,716,811 (GRCm39) |
missense |
probably benign |
|
|
R9172:Strap
|
UTSW |
6 |
137,718,365 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGGTGAAATGGCTTGAGCTC -3'
(R):5'- GAGTAGCTGTTCGTGCACTG -3'
Sequencing Primer
(F):5'- GTCCTGGGATAAGGCCATG -3'
(R):5'- CGTGCACTGGAGCTAACTCATATG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation