Incidental Mutation 'R0838:Stard3nl'
ID 78060
Institutional Source Beutler Lab
Gene Symbol Stard3nl
Ensembl Gene ENSMUSG00000003062
Gene Name STARD3 N-terminal like
Synonyms 0610035N01Rik, 6530409L22Rik
MMRRC Submission 039017-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0838 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 19541846-19579965 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 19556756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039694] [ENSMUST00000039694] [ENSMUST00000197565] [ENSMUST00000199924] [ENSMUST00000200323] [ENSMUST00000200323] [ENSMUST00000222869] [ENSMUST00000221380]
AlphaFold Q9DCI3
Predicted Effect probably null
Transcript: ENSMUST00000039694
SMART Domains Protein: ENSMUSP00000037991
Gene: ENSMUSG00000003062

DomainStartEndE-ValueType
Pfam:MENTAL 49 214 2.6e-67 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000039694
SMART Domains Protein: ENSMUSP00000037991
Gene: ENSMUSG00000003062

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 null
Transcript: ENSMUST00000197565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199278
Predicted Effect probably benign
Transcript: ENSMUST00000199924
Predicted Effect probably null
Transcript: ENSMUST00000200323
SMART Domains Protein: ENSMUSP00000142680
Gene: ENSMUSG00000003062

DomainStartEndE-ValueType
Pfam:MENTAL 49 216 2e-73 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000200323
SMART Domains Protein: ENSMUSP00000142680
Gene: ENSMUSG00000003062

DomainStartEndE-ValueType
Pfam:MENTAL 49 216 2e-73 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000222869
Predicted Effect probably null
Transcript: ENSMUST00000221380
Meta Mutation Damage Score 0.9497 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.3%
Validation Efficiency 100% (56/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,963,535 (GRCm39) M53L probably damaging Het
Adamts6 A G 13: 104,550,297 (GRCm39) N638D possibly damaging Het
Amy2b T C 3: 113,058,317 (GRCm39) noncoding transcript Het
Ap5s1 G A 2: 131,053,351 (GRCm39) R45K probably damaging Het
Arap1 T C 7: 101,049,619 (GRCm39) Y994H probably damaging Het
Arrdc3 A T 13: 81,037,366 (GRCm39) probably benign Het
Bard1 G A 1: 71,069,812 (GRCm39) T722M probably damaging Het
Ccdc88a A G 11: 29,350,285 (GRCm39) Y89C probably damaging Het
Cd96 A G 16: 45,938,289 (GRCm39) S59P probably damaging Het
Chit1 T A 1: 134,071,075 (GRCm39) C51* probably null Het
Cilp2 G T 8: 70,334,369 (GRCm39) H876Q probably benign Het
Cyld A G 8: 89,467,978 (GRCm39) E722G probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dedd2 T C 7: 24,910,612 (GRCm39) E188G probably benign Het
Dnah17 A T 11: 117,950,930 (GRCm39) W2898R probably damaging Het
Dpy19l1 T C 9: 24,343,727 (GRCm39) T473A probably damaging Het
Fam228a T A 12: 4,785,002 (GRCm39) H43L possibly damaging Het
Fkbp15 G T 4: 62,242,363 (GRCm39) H530N probably damaging Het
Gga1 C T 15: 78,776,118 (GRCm39) S387L probably damaging Het
Gm4868 A G 5: 125,925,687 (GRCm39) noncoding transcript Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
Itgb4 A C 11: 115,888,988 (GRCm39) probably benign Het
Jag1 G A 2: 136,935,198 (GRCm39) T388I probably damaging Het
Kcnh1 A G 1: 192,095,514 (GRCm39) D551G probably damaging Het
Lrp2bp A G 8: 46,478,161 (GRCm39) D270G possibly damaging Het
Map3k19 C A 1: 127,751,696 (GRCm39) V552F probably benign Het
Mixl1 A T 1: 180,524,365 (GRCm39) D71E probably benign Het
Myocd A G 11: 65,069,758 (GRCm39) I694T probably benign Het
Nadk2 T A 15: 9,091,322 (GRCm39) S198T probably benign Het
Npepps A T 11: 97,158,518 (GRCm39) probably benign Het
Nt5c1b C T 12: 10,425,071 (GRCm39) Q206* probably null Het
Or51b17 T A 7: 103,542,622 (GRCm39) I107F probably benign Het
Orm1 A G 4: 63,263,394 (GRCm39) Y69C probably damaging Het
Plscr4 T A 9: 92,353,813 (GRCm39) probably benign Het
Pon1 G A 6: 5,175,758 (GRCm39) T188I possibly damaging Het
Ppm1a T A 12: 72,831,094 (GRCm39) H206Q probably benign Het
Prl8a1 G A 13: 27,758,008 (GRCm39) R234C probably damaging Het
Rfx3 C T 19: 27,827,367 (GRCm39) R73Q possibly damaging Het
Rims2 T C 15: 39,544,421 (GRCm39) V1466A probably benign Het
Sec24d T A 3: 123,099,485 (GRCm39) F319L probably benign Het
Slc15a4 A G 5: 127,694,067 (GRCm39) S123P possibly damaging Het
Slc1a6 A T 10: 78,632,056 (GRCm39) D294V probably damaging Het
Slc28a3 A T 13: 58,736,083 (GRCm39) D38E probably benign Het
Spata31d1e A G 13: 59,890,282 (GRCm39) S513P possibly damaging Het
Stard9 A G 2: 120,531,323 (GRCm39) T2527A probably damaging Het
Sult3a1 C T 10: 33,755,284 (GRCm39) P283L probably damaging Het
Tgtp1 A G 11: 48,877,970 (GRCm39) V245A probably benign Het
Txndc16 T C 14: 45,402,876 (GRCm39) probably benign Het
Zdhhc8 A G 16: 18,042,430 (GRCm39) L590S probably damaging Het
Zfp1005 T A 2: 150,111,220 (GRCm39) C637S possibly damaging Het
Zfp366 A G 13: 99,365,118 (GRCm39) E93G possibly damaging Het
Zfp69 T C 4: 120,788,478 (GRCm39) N279S probably benign Het
Zscan10 T C 17: 23,829,008 (GRCm39) S407P possibly damaging Het
Other mutations in Stard3nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01907:Stard3nl APN 13 19,556,759 (GRCm39) missense probably damaging 1.00
IGL03080:Stard3nl APN 13 19,554,648 (GRCm39) critical splice donor site probably null
R1436:Stard3nl UTSW 13 19,556,819 (GRCm39) missense probably damaging 1.00
R1625:Stard3nl UTSW 13 19,556,754 (GRCm39) splice site probably null
R4360:Stard3nl UTSW 13 19,554,654 (GRCm39) missense probably damaging 1.00
R4599:Stard3nl UTSW 13 19,551,923 (GRCm39) missense probably damaging 1.00
R4609:Stard3nl UTSW 13 19,554,434 (GRCm39) missense probably damaging 0.98
R4667:Stard3nl UTSW 13 19,560,689 (GRCm39) missense probably damaging 1.00
R4668:Stard3nl UTSW 13 19,560,689 (GRCm39) missense probably damaging 1.00
R4669:Stard3nl UTSW 13 19,560,689 (GRCm39) missense probably damaging 1.00
R4740:Stard3nl UTSW 13 19,560,736 (GRCm39) missense probably damaging 0.99
R4740:Stard3nl UTSW 13 19,551,948 (GRCm39) missense probably benign 0.34
R7633:Stard3nl UTSW 13 19,552,008 (GRCm39) missense probably damaging 1.00
R7673:Stard3nl UTSW 13 19,551,923 (GRCm39) missense probably benign 0.32
R8080:Stard3nl UTSW 13 19,554,521 (GRCm39) missense probably damaging 0.99
R8268:Stard3nl UTSW 13 19,560,629 (GRCm39) missense probably damaging 1.00
R9163:Stard3nl UTSW 13 19,560,809 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CCTTACAGACCATGCCAGTAACGG -3'
(R):5'- CCATAAACGCAGTGCCACTTTTCC -3'

Sequencing Primer
(F):5'- TGGTGAAACCTGATCCTCCA -3'
(R):5'- GAATTTCCTGCCAACTCAGTGAAG -3'
Posted On 2013-10-16