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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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