Incidental Mutation 'IGL03163:Stra6l'
ID411518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stra6l
Ensembl Gene ENSMUSG00000028327
Gene NameSTRA6-like
SynonymsRbpr2, 1300002K09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03163
Quality Score
Status
Chromosome4
Chromosomal Location45848664-45887008 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45881455 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,181,417 D393V probably benign Het
Amz2 C A 11: 109,428,925 Q46K probably benign Het
Ankhd1 G A 18: 36,647,628 R1911H probably damaging Het
Apba3 A G 10: 81,269,223 probably null Het
Atxn1l T C 8: 109,732,385 N415S probably damaging Het
Ccdc36 G T 9: 108,404,933 L519I probably benign Het
Clu C T 14: 65,979,786 S356F probably benign Het
Cluh T C 11: 74,666,068 V1029A probably benign Het
Creb3 C T 4: 43,566,315 L274F probably damaging Het
Cyhr1 A T 15: 76,659,274 L13Q probably damaging Het
Dcaf8 T C 1: 172,172,908 V211A probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fam131c T C 4: 141,382,758 F156L probably damaging Het
Fbxw21 T A 9: 109,145,484 I323F probably benign Het
Fmo9 A G 1: 166,674,450 V202A possibly damaging Het
Gipr C T 7: 19,162,556 W205* probably null Het
Gm13941 A T 2: 111,098,416 I99K unknown Het
Gpr22 A T 12: 31,709,172 V317E possibly damaging Het
Hace1 T C 10: 45,672,605 I582T probably damaging Het
Khdrbs1 T C 4: 129,725,715 E211G probably benign Het
Lonrf1 T C 8: 36,230,330 D500G probably benign Het
Lrp2 A C 2: 69,501,526 Y1628* probably null Het
Lrrc40 T C 3: 158,041,587 I112T possibly damaging Het
Matr3 G A 18: 35,572,591 D190N probably damaging Het
Olfr894 T C 9: 38,219,414 V194A probably benign Het
Ptpn13 A T 5: 103,591,346 D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 D557G probably damaging Het
Rangap1 A T 15: 81,716,600 N194K probably damaging Het
Rasgef1c T C 11: 49,971,373 V363A possibly damaging Het
Ric8b A G 10: 85,001,822 N498D probably damaging Het
Scn1a A C 2: 66,318,074 D22E probably benign Het
Spc25 T G 2: 69,197,204 I115L probably damaging Het
Sspo A G 6: 48,484,332 H3569R probably benign Het
Trappc12 G T 12: 28,746,654 P293Q probably damaging Het
Trcg1 T C 9: 57,248,347 L761P possibly damaging Het
Usp15 A C 10: 123,171,144 M144R probably damaging Het
Vmn2r11 T C 5: 109,053,826 I271V probably benign Het
Zcchc2 T C 1: 106,031,111 V1104A probably damaging Het
Other mutations in Stra6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Stra6l APN 4 45864864 splice site probably null
IGL02343:Stra6l APN 4 45869588 missense probably damaging 0.99
IGL02710:Stra6l APN 4 45882728 missense possibly damaging 0.72
IGL02880:Stra6l APN 4 45885278 missense possibly damaging 0.70
IGL03034:Stra6l APN 4 45885392 missense probably benign 0.41
IGL03355:Stra6l APN 4 45873689 missense probably benign 0.16
K2124:Stra6l UTSW 4 45870770 splice site probably benign
R0800:Stra6l UTSW 4 45882797 missense probably benign 0.29
R1171:Stra6l UTSW 4 45864982 missense probably benign
R1931:Stra6l UTSW 4 45882698 nonsense probably null
R1982:Stra6l UTSW 4 45867237 nonsense probably null
R2331:Stra6l UTSW 4 45858224 critical splice donor site probably null
R4691:Stra6l UTSW 4 45882851 missense probably benign 0.39
R4846:Stra6l UTSW 4 45873682 missense possibly damaging 0.76
R5175:Stra6l UTSW 4 45870860 missense probably benign 0.01
R5633:Stra6l UTSW 4 45881455 missense probably benign 0.00
R6212:Stra6l UTSW 4 45884664 missense probably benign
R6517:Stra6l UTSW 4 45879473 missense probably benign
R6534:Stra6l UTSW 4 45860041 splice site probably null
R6584:Stra6l UTSW 4 45869635 splice site probably null
R7763:Stra6l UTSW 4 45869570 nonsense probably null
R8400:Stra6l UTSW 4 45864905 missense probably damaging 1.00
R8511:Stra6l UTSW 4 45885347 missense probably benign 0.00
Posted On2016-08-02