Incidental Mutation 'R6517:Stra6l'
ID |
520787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stra6l
|
Ensembl Gene |
ENSMUSG00000028327 |
Gene Name |
STRA6-like |
Synonyms |
1300002K09Rik, Rbpr2 |
MMRRC Submission |
044644-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6517 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
45848664-45887008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45879473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 365
(H365R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030011]
[ENSMUST00000107782]
[ENSMUST00000107783]
|
AlphaFold |
Q9DBN1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030011
AA Change: H365R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030011 Gene: ENSMUSG00000028327 AA Change: H365R
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
13 |
602 |
8.7e-228 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107782
AA Change: H274R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103411 Gene: ENSMUSG00000028327 AA Change: H274R
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
1 |
512 |
2.8e-221 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107783
AA Change: H365R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103412 Gene: ENSMUSG00000028327 AA Change: H365R
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
12 |
603 |
1e-254 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165478
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
C |
T |
14: 29,704,673 (GRCm39) |
Q58* |
probably null |
Het |
Adamts20 |
A |
C |
15: 94,180,985 (GRCm39) |
|
probably null |
Het |
Alpk3 |
T |
A |
7: 80,728,327 (GRCm39) |
S486T |
possibly damaging |
Het |
Cep162 |
T |
A |
9: 87,104,227 (GRCm39) |
E553V |
probably damaging |
Het |
Epha5 |
T |
C |
5: 84,304,360 (GRCm39) |
I370V |
possibly damaging |
Het |
Ets1 |
A |
T |
9: 32,664,093 (GRCm39) |
|
probably null |
Het |
Fbxo38 |
C |
T |
18: 62,666,634 (GRCm39) |
E180K |
probably damaging |
Het |
Fscn1 |
A |
G |
5: 142,957,741 (GRCm39) |
D296G |
probably damaging |
Het |
Glul |
A |
G |
1: 153,783,779 (GRCm39) |
I325V |
probably benign |
Het |
Keg1 |
A |
G |
19: 12,693,274 (GRCm39) |
D99G |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
Mdfic |
T |
A |
6: 15,770,324 (GRCm39) |
I110N |
probably damaging |
Het |
Myo1g |
T |
C |
11: 6,462,509 (GRCm39) |
N541D |
probably damaging |
Het |
Nos3 |
T |
A |
5: 24,588,622 (GRCm39) |
V1116D |
probably damaging |
Het |
Or8h8 |
A |
G |
2: 86,753,441 (GRCm39) |
I145T |
probably benign |
Het |
Piwil2 |
G |
T |
14: 70,611,785 (GRCm39) |
Q954K |
probably benign |
Het |
Ppm1l |
T |
C |
3: 69,224,916 (GRCm39) |
M6T |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,327,907 (GRCm39) |
E861V |
possibly damaging |
Het |
Senp2 |
C |
T |
16: 21,845,474 (GRCm39) |
T236M |
possibly damaging |
Het |
Sgo2b |
A |
T |
8: 64,384,528 (GRCm39) |
V156D |
probably damaging |
Het |
Sis |
T |
C |
3: 72,814,475 (GRCm39) |
Y1585C |
probably damaging |
Het |
Slc22a22 |
A |
G |
15: 57,114,365 (GRCm39) |
S321P |
probably benign |
Het |
Slu7 |
T |
A |
11: 43,328,975 (GRCm39) |
Y66N |
probably damaging |
Het |
Stt3b |
T |
C |
9: 115,096,410 (GRCm39) |
T246A |
probably benign |
Het |
Taf1c |
T |
G |
8: 120,330,986 (GRCm39) |
N44T |
possibly damaging |
Het |
Tcirg1 |
C |
T |
19: 3,951,933 (GRCm39) |
V376M |
probably damaging |
Het |
Tkt |
A |
G |
14: 30,271,280 (GRCm39) |
D17G |
probably damaging |
Het |
Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,889,689 (GRCm39) |
V672A |
probably benign |
Het |
Zdbf2 |
T |
G |
1: 63,344,679 (GRCm39) |
D1019E |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,032,150 (GRCm39) |
C597S |
possibly damaging |
Het |
Zfp986 |
G |
C |
4: 145,625,870 (GRCm39) |
D177H |
probably benign |
Het |
|
Other mutations in Stra6l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01448:Stra6l
|
APN |
4 |
45,864,864 (GRCm39) |
splice site |
probably null |
|
IGL02343:Stra6l
|
APN |
4 |
45,869,588 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02710:Stra6l
|
APN |
4 |
45,882,728 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02880:Stra6l
|
APN |
4 |
45,885,278 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03034:Stra6l
|
APN |
4 |
45,885,392 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03163:Stra6l
|
APN |
4 |
45,881,455 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03355:Stra6l
|
APN |
4 |
45,873,689 (GRCm39) |
missense |
probably benign |
0.16 |
K2124:Stra6l
|
UTSW |
4 |
45,870,770 (GRCm39) |
splice site |
probably benign |
|
R0800:Stra6l
|
UTSW |
4 |
45,882,797 (GRCm39) |
missense |
probably benign |
0.29 |
R1171:Stra6l
|
UTSW |
4 |
45,864,982 (GRCm39) |
missense |
probably benign |
|
R1931:Stra6l
|
UTSW |
4 |
45,882,698 (GRCm39) |
nonsense |
probably null |
|
R1982:Stra6l
|
UTSW |
4 |
45,867,237 (GRCm39) |
nonsense |
probably null |
|
R2331:Stra6l
|
UTSW |
4 |
45,858,224 (GRCm39) |
critical splice donor site |
probably null |
|
R4691:Stra6l
|
UTSW |
4 |
45,882,851 (GRCm39) |
missense |
probably benign |
0.39 |
R4846:Stra6l
|
UTSW |
4 |
45,873,682 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5175:Stra6l
|
UTSW |
4 |
45,870,860 (GRCm39) |
missense |
probably benign |
0.01 |
R5633:Stra6l
|
UTSW |
4 |
45,881,455 (GRCm39) |
missense |
probably benign |
0.00 |
R6212:Stra6l
|
UTSW |
4 |
45,884,664 (GRCm39) |
missense |
probably benign |
|
R6534:Stra6l
|
UTSW |
4 |
45,860,041 (GRCm39) |
splice site |
probably null |
|
R6584:Stra6l
|
UTSW |
4 |
45,869,635 (GRCm39) |
splice site |
probably null |
|
R7763:Stra6l
|
UTSW |
4 |
45,869,570 (GRCm39) |
nonsense |
probably null |
|
R8400:Stra6l
|
UTSW |
4 |
45,864,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R8511:Stra6l
|
UTSW |
4 |
45,885,347 (GRCm39) |
missense |
probably benign |
0.00 |
R9007:Stra6l
|
UTSW |
4 |
45,864,910 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9313:Stra6l
|
UTSW |
4 |
45,881,454 (GRCm39) |
missense |
probably benign |
|
R9379:Stra6l
|
UTSW |
4 |
45,849,093 (GRCm39) |
missense |
probably benign |
|
R9400:Stra6l
|
UTSW |
4 |
45,885,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R9764:Stra6l
|
UTSW |
4 |
45,884,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCATGTAGTAGCTATGGGC -3'
(R):5'- TGGCCACCTGAGAATTAAAAGG -3'
Sequencing Primer
(F):5'- GCTATGGGCTGCCTGCTAG -3'
(R):5'- TGGTCTTAGAGTAGAATGGTAGATTC -3'
|
Posted On |
2018-06-06 |