Incidental Mutation 'IGL02710:Stra6l'
ID |
304536 |
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 # |
IGL02710
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
45848664-45887008 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45882728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 480
(F480L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030011]
[ENSMUST00000107782]
[ENSMUST00000107783]
|
AlphaFold |
Q9DBN1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030011
AA Change: F480L
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000030011 Gene: ENSMUSG00000028327 AA Change: F480L
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
13 |
602 |
8.7e-228 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107782
AA Change: F389L
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103411 Gene: ENSMUSG00000028327 AA Change: F389L
Domain | Start | End | E-Value | Type |
Pfam:RBP_receptor
|
1 |
512 |
2.8e-221 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107783
AA Change: F480L
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103412 Gene: ENSMUSG00000028327 AA Change: F480L
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
T |
G |
1: 58,373,928 (GRCm39) |
|
probably null |
Het |
Col18a1 |
G |
A |
10: 76,949,146 (GRCm39) |
A122V |
possibly damaging |
Het |
Dnai3 |
A |
T |
3: 145,753,903 (GRCm39) |
I719N |
possibly damaging |
Het |
Dtnb |
T |
A |
12: 3,698,380 (GRCm39) |
H289Q |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 38,944,744 (GRCm39) |
K1212N |
probably damaging |
Het |
Gm10392 |
T |
C |
11: 77,409,294 (GRCm39) |
H44R |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,787,562 (GRCm39) |
A1740T |
possibly damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Knl1 |
A |
C |
2: 118,901,411 (GRCm39) |
E1037D |
probably damaging |
Het |
Lsg1 |
A |
T |
16: 30,390,292 (GRCm39) |
D274E |
probably benign |
Het |
Msantd3 |
A |
G |
4: 48,552,686 (GRCm39) |
K92E |
probably damaging |
Het |
Nap1l4 |
G |
A |
7: 143,077,998 (GRCm39) |
T312I |
probably benign |
Het |
Nlrp3 |
A |
G |
11: 59,456,802 (GRCm39) |
E988G |
probably damaging |
Het |
Or11g2 |
C |
T |
14: 50,856,255 (GRCm39) |
T192I |
probably benign |
Het |
Palm3 |
C |
T |
8: 84,754,941 (GRCm39) |
T151I |
possibly damaging |
Het |
Pde1b |
T |
C |
15: 103,430,484 (GRCm39) |
W144R |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,207,730 (GRCm39) |
L1427P |
probably damaging |
Het |
Rasal1 |
A |
T |
5: 120,804,496 (GRCm39) |
H456L |
possibly damaging |
Het |
Sec16a |
C |
T |
2: 26,320,142 (GRCm39) |
G1432D |
possibly damaging |
Het |
Shc1 |
A |
G |
3: 89,331,917 (GRCm39) |
|
probably null |
Het |
Skint5 |
T |
A |
4: 113,335,156 (GRCm39) |
I1452F |
unknown |
Het |
Slc35b4 |
C |
A |
6: 34,135,476 (GRCm39) |
V279L |
probably benign |
Het |
Snx9 |
T |
C |
17: 5,958,873 (GRCm39) |
V283A |
probably damaging |
Het |
Stt3a |
A |
G |
9: 36,670,041 (GRCm39) |
Y132H |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,125,649 (GRCm39) |
I363F |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,398,820 (GRCm39) |
T642I |
probably damaging |
Het |
Tubgcp2 |
G |
A |
7: 139,584,897 (GRCm39) |
|
probably benign |
Het |
Usp47 |
A |
G |
7: 111,692,132 (GRCm39) |
N845D |
probably benign |
Het |
Wdr20 |
A |
T |
12: 110,759,544 (GRCm39) |
|
probably benign |
Het |
Zfp518b |
A |
G |
5: 38,830,061 (GRCm39) |
V648A |
probably damaging |
Het |
Zfp687 |
A |
T |
3: 94,916,084 (GRCm39) |
S927T |
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 |
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 |
|
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 |
2015-04-16 |