Incidental Mutation 'R8268:Stard3nl'
ID 639553
Institutional Source Beutler Lab
Gene Symbol Stard3nl
Ensembl Gene ENSMUSG00000003062
Gene Name STARD3 N-terminal like
Synonyms 0610035N01Rik, 6530409L22Rik
MMRRC Submission 067692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R8268 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 19541846-19579965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19560629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 49 (S49P)
Ref Sequence ENSEMBL: ENSMUSP00000142680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039694] [ENSMUST00000199924] [ENSMUST00000200323]
AlphaFold Q9DCI3
Predicted Effect probably damaging
Transcript: ENSMUST00000039694
AA Change: S49P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037991
Gene: ENSMUSG00000003062
AA Change: S49P

DomainStartEndE-ValueType
Pfam:MENTAL 49 214 2.6e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199924
Predicted Effect probably damaging
Transcript: ENSMUST00000200323
AA Change: S49P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142680
Gene: ENSMUSG00000003062
AA Change: S49P

DomainStartEndE-ValueType
Pfam:MENTAL 49 216 2e-73 PFAM
Meta Mutation Damage Score 0.9434 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (37/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,909,961 (GRCm39) C396S probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Ciapin1 A G 8: 95,558,511 (GRCm39) V67A probably benign Het
Col7a1 A G 9: 108,802,057 (GRCm39) R2018G unknown Het
Dnah11 A T 12: 117,991,243 (GRCm39) Y2374* probably null Het
Dnah7b G T 1: 46,395,736 (GRCm39) M3879I probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Gm12258 A C 11: 58,745,084 (GRCm39) probably null Het
Hpse A G 5: 100,846,907 (GRCm39) L174S probably damaging Het
Hspa8 A G 9: 40,714,448 (GRCm39) K248R probably damaging Het
Kcnt2 A C 1: 140,450,954 (GRCm39) R744S probably damaging Het
Klhl32 G A 4: 24,800,843 (GRCm39) probably benign Het
Mkrn3 A G 7: 62,068,270 (GRCm39) L507P probably damaging Het
Myom2 T G 8: 15,179,157 (GRCm39) F1330V probably damaging Het
Nr1d2 A G 14: 18,216,659 (GRCm38) S170P probably damaging Het
Nt5dc1 T C 10: 34,186,407 (GRCm39) D388G probably damaging Het
Or12e9 C A 2: 87,202,332 (GRCm39) A152E probably damaging Het
Or13a17 A G 7: 140,271,430 (GRCm39) D204G probably damaging Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Or7a36 T A 10: 78,819,831 (GRCm39) V69E probably damaging Het
Pigg T A 5: 108,486,509 (GRCm39) S721T probably damaging Het
Prr5 T C 15: 84,587,192 (GRCm39) L323P probably benign Het
Rapgef2 T A 3: 78,993,263 (GRCm39) I742L probably benign Het
Rxrb A G 17: 34,254,750 (GRCm39) S302G probably benign Het
Setd5 T G 6: 113,126,651 (GRCm39) probably null Het
Sh3bgr A G 16: 96,025,674 (GRCm39) T187A unknown Het
Sh3pxd2a C T 19: 47,256,033 (GRCm39) R923H probably benign Het
Slc26a10 A G 10: 127,009,491 (GRCm39) probably null Het
Slc9a1 T A 4: 133,097,934 (GRCm39) V27E probably benign Het
Stxbp2 G A 8: 3,682,234 (GRCm39) V17I Het
Themis3 C T 17: 66,862,786 (GRCm39) E391K probably benign Het
Tia1 A G 6: 86,404,996 (GRCm39) probably benign Het
Tmem167 T C 13: 90,252,554 (GRCm39) F70S probably damaging Het
Trpm6 C A 19: 18,851,225 (GRCm39) Q1729K possibly damaging Het
Tsc2 A C 17: 24,818,984 (GRCm39) L1285W probably benign Het
Uchl4 A T 9: 64,142,791 (GRCm39) I91F probably damaging Het
Wdfy3 C T 5: 102,089,476 (GRCm39) A573T probably damaging Het
Zc2hc1c C T 12: 85,336,595 (GRCm39) S84F probably benign Het
Zfp143 A G 7: 109,690,991 (GRCm39) D515G 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
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
R9163:Stard3nl UTSW 13 19,560,809 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AAGCACCGGGAATTCAAATTTC -3'
(R):5'- GAGTTGGATGGAGACTCCTTC -3'

Sequencing Primer
(F):5'- CGGGAATTCAAATTTCAAAATCCCAG -3'
(R):5'- GACTCCTTCAGTCCTCCTCCAG -3'
Posted On 2020-07-28