Incidental Mutation 'R4360:Stard3nl'
ID 324869
Institutional Source Beutler Lab
Gene Symbol Stard3nl
Ensembl Gene ENSMUSG00000003062
Gene Name STARD3 N-terminal like
Synonyms 0610035N01Rik, 6530409L22Rik
MMRRC Submission 041111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4360 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 19541846-19579965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19554654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 144 (S144L)
Ref Sequence ENSEMBL: ENSMUSP00000152373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039694] [ENSMUST00000197565] [ENSMUST00000200323] [ENSMUST00000221380] [ENSMUST00000222869]
AlphaFold Q9DCI3
Predicted Effect probably damaging
Transcript: ENSMUST00000039694
AA Change: S144L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037991
Gene: ENSMUSG00000003062
AA Change: S144L

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: S144L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199278
Predicted Effect probably damaging
Transcript: ENSMUST00000200323
AA Change: S144L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142680
Gene: ENSMUSG00000003062
AA Change: S144L

DomainStartEndE-ValueType
Pfam:MENTAL 49 216 2e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221380
AA Change: S144L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222869
AA Change: S144L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2524 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (50/50)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I07Rik T C 14: 67,175,850 (GRCm39) noncoding transcript Het
Adgra3 T C 5: 50,147,552 (GRCm39) E496G possibly damaging Het
Atg14 C G 14: 47,805,827 (GRCm39) E13Q probably benign Het
BC023105 G T 18: 60,575,073 (GRCm39) noncoding transcript Het
Chd6 A G 2: 160,791,776 (GRCm39) V2527A possibly damaging Het
Csn1s2a G T 5: 87,929,700 (GRCm39) V100L possibly damaging Het
Fah G A 7: 84,238,856 (GRCm39) L330F probably damaging Het
Fmo2 T C 1: 162,709,583 (GRCm39) N268S probably damaging Het
Foxg1 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 12: 49,431,475 (GRCm39) probably benign Het
Frmd4a A T 2: 4,606,052 (GRCm39) H287L probably damaging Het
G2e3 T A 12: 51,410,197 (GRCm39) probably benign Het
Gm1758 A T 16: 14,324,215 (GRCm39) noncoding transcript Het
Gm7204 T C 16: 48,039,196 (GRCm39) noncoding transcript Het
Gm829 T C 4: 45,718,819 (GRCm39) noncoding transcript Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Islr T A 9: 58,064,887 (GRCm39) N207Y probably damaging Het
Lipc T C 9: 70,759,864 (GRCm39) probably benign Het
Ncor2 A G 5: 125,106,036 (GRCm39) S1546P probably damaging Het
Or13a25 T C 7: 140,247,730 (GRCm39) F170L probably damaging Het
Or56a3 A C 7: 104,735,460 (GRCm39) E179A probably damaging Het
Or7g18 G A 9: 18,787,013 (GRCm39) C127Y probably damaging Het
Parp4 A G 14: 56,866,661 (GRCm39) D1075G possibly damaging Het
Pkp2 A G 16: 16,086,546 (GRCm39) I736V probably benign Het
Plekha8 T C 6: 54,599,171 (GRCm39) I235T probably benign Het
Polq A G 16: 36,880,701 (GRCm39) D955G probably benign Het
Pramel16 A G 4: 143,677,433 (GRCm39) F49L possibly damaging Het
Psmd1 A G 1: 86,061,459 (GRCm39) K890E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scpep1 A G 11: 88,821,070 (GRCm39) Y366H possibly damaging Het
Slc18a3 A G 14: 32,185,882 (GRCm39) V167A probably benign Het
Sp8 A G 12: 118,812,400 (GRCm39) D85G possibly damaging Het
Stk4 A G 2: 163,930,879 (GRCm39) E160G possibly damaging Het
Tbcb T C 7: 29,926,460 (GRCm39) N119S probably benign Het
Tnc G T 4: 63,935,161 (GRCm39) R592S probably benign Het
Trem3 T A 17: 48,556,801 (GRCm39) S91T probably benign Het
Trpc6 A G 9: 8,610,267 (GRCm39) E245G probably benign Het
Usp40 C T 1: 87,880,083 (GRCm39) R1036H probably damaging Het
Usp47 G T 7: 111,654,139 (GRCm39) G112C probably damaging Het
Wdr35 T C 12: 9,024,149 (GRCm39) probably benign Het
Zc3h14 A G 12: 98,746,456 (GRCm39) K555R probably benign Het
Zfp26 T C 9: 20,349,869 (GRCm39) S232G probably benign Het
Zfp811 T C 17: 33,017,432 (GRCm39) T202A probably benign 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
R0838:Stard3nl UTSW 13 19,556,756 (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
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'- TGAAATCCAGGAACCACGTCTC -3'
(R):5'- TTTGCCCGGAATGGTATGCAG -3'

Sequencing Primer
(F):5'- CGTCTCAATCCAGGCAAGG -3'
(R):5'- TGCAGGAAAGCACAAATACTATG -3'
Posted On 2015-07-06