Incidental Mutation 'IGL03163:Stra6l'
ID |
411518 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stra6l
|
Ensembl Gene |
ENSMUSG00000028327 |
Gene Name |
STRA6-like |
Synonyms |
1300002K09Rik, Rbpr2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03163
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
45848664-45887008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45881455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 439
(I439T)
|
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: I439T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000030011 Gene: ENSMUSG00000028327 AA Change: I439T
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
13 |
602 |
8.7e-228 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107782
AA Change: I348T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103411 Gene: ENSMUSG00000028327 AA Change: I348T
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
1 |
512 |
2.8e-221 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107783
AA Change: I439T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103412 Gene: ENSMUSG00000028327 AA Change: I439T
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
12 |
603 |
1e-254 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165478
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
probably damaging |
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 |
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 |
|
R6517:Stra6l
|
UTSW |
4 |
45,879,473 (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 |
|
Posted On |
2016-08-02 |