Incidental Mutation 'IGL01907:Stard3nl'
ID179699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard3nl
Ensembl Gene ENSMUSG00000003062
Gene NameSTARD3 N-terminal like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL01907
Quality Score
Status
Chromosome13
Chromosomal Location19357676-19395795 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 19372589 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 127 (A127V)
Ref Sequence ENSEMBL: ENSMUSP00000152373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039694] [ENSMUST00000197565] [ENSMUST00000199924] [ENSMUST00000200323] [ENSMUST00000221380] [ENSMUST00000222869]
Predicted Effect probably damaging
Transcript: ENSMUST00000039694
AA Change: A127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037991
Gene: ENSMUSG00000003062
AA Change: A127V

DomainStartEndE-ValueType
Pfam:MENTAL 49 214 2.6e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196712
Predicted Effect probably damaging
Transcript: ENSMUST00000197565
AA Change: A127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199278
Predicted Effect probably benign
Transcript: ENSMUST00000199924
Predicted Effect probably damaging
Transcript: ENSMUST00000200323
AA Change: A127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142680
Gene: ENSMUSG00000003062
AA Change: A127V

DomainStartEndE-ValueType
Pfam:MENTAL 49 216 2e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221380
AA Change: A127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222869
AA Change: A127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1g1 T C 8: 109,843,343 probably benign Het
Asph A T 4: 9,514,643 D491E possibly damaging Het
D930020B18Rik A G 10: 121,642,010 N47D probably damaging Het
Fam49b A G 15: 63,931,686 probably benign Het
Gad1 T C 2: 70,574,126 V120A possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Grin2b T G 6: 135,733,740 E936A probably damaging Het
Iars T C 13: 49,709,655 F528L probably damaging Het
Iyd C T 10: 3,540,407 P38S probably damaging Het
Krt24 A G 11: 99,285,204 F2L unknown Het
Mnat1 T A 12: 73,272,439 S279T probably benign Het
Mptx1 A T 1: 174,332,646 I173L probably benign Het
Olfr1016 T A 2: 85,799,602 T223S probably benign Het
Per1 T C 11: 69,105,599 S810P probably benign Het
Racgap1 T A 15: 99,626,333 K398* probably null Het
Rnf133 T C 6: 23,649,304 N209D probably benign Het
Rp1 T C 1: 4,348,507 E794G possibly damaging Het
Ryr3 A T 2: 112,869,001 probably benign Het
Slc27a2 A G 2: 126,587,874 T465A probably benign Het
Smarca2 T C 19: 26,698,465 M1035T possibly damaging Het
Spink5 A G 18: 43,996,676 N445D probably damaging Het
Trim69 C T 2: 122,167,661 T38M probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp438 G A 18: 5,213,815 A381V probably damaging Het
Other mutations in Stard3nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03080:Stard3nl APN 13 19370478 critical splice donor site probably null
R0838:Stard3nl UTSW 13 19372586 critical splice donor site probably null
R1436:Stard3nl UTSW 13 19372649 missense probably damaging 1.00
R1625:Stard3nl UTSW 13 19372584 splice site probably null
R4360:Stard3nl UTSW 13 19370484 missense probably damaging 1.00
R4599:Stard3nl UTSW 13 19367753 missense probably damaging 1.00
R4609:Stard3nl UTSW 13 19370264 missense probably damaging 0.98
R4667:Stard3nl UTSW 13 19376519 missense probably damaging 1.00
R4668:Stard3nl UTSW 13 19376519 missense probably damaging 1.00
R4669:Stard3nl UTSW 13 19376519 missense probably damaging 1.00
R4740:Stard3nl UTSW 13 19367778 missense probably benign 0.34
R4740:Stard3nl UTSW 13 19376566 missense probably damaging 0.99
R7633:Stard3nl UTSW 13 19367838 missense probably damaging 1.00
R7673:Stard3nl UTSW 13 19367753 missense probably benign 0.32
Posted On2014-05-07