Incidental Mutation 'IGL03067:Supv3l1'
ID409750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Supv3l1
Ensembl Gene ENSMUSG00000020079
Gene Namesuppressor of var1, 3-like 1 (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03067
Quality Score
Status
Chromosome10
Chromosomal Location62429209-62449738 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 62429821 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 647 (D647Y)
Ref Sequence ENSEMBL: ENSMUSP00000020273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020273]
Predicted Effect probably damaging
Transcript: ENSMUST00000020273
AA Change: D647Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: D647Y

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 47 56 N/A INTRINSIC
HELICc 379 475 1.44e-18 SMART
Pfam:SUV3_C 625 672 4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161941
Predicted Effect probably benign
Transcript: ENSMUST00000162023
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit embryonic lethality between E9.5 and E12.5. Mice homozygous for a knock-out allele exhibit embryonic lethality between E8.5 and 9.5. Mice heterozygous for this allele produce offspring with mitochondrial defects regardless of offspring genotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 120,010,083 D1162E probably benign Het
Abhd2 T C 7: 79,360,034 F386L probably benign Het
Adamts6 C T 13: 104,297,275 R71W probably damaging Het
Adgrv1 T C 13: 81,442,480 Y4403C probably damaging Het
Aldoart1 A T 4: 72,851,957 C205S possibly damaging Het
Ap2a1 C A 7: 44,903,511 A711S probably benign Het
Arhgef28 A G 13: 97,988,286 I496T probably benign Het
Cyp27a1 A G 1: 74,731,909 probably null Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dpy19l1 A G 9: 24,438,660 V428A probably benign Het
Foxk2 C T 11: 121,285,568 T180M possibly damaging Het
Gm3402 C A 5: 146,514,589 H86N possibly damaging Het
Gm3543 A G 14: 41,980,873 probably benign Het
Gnai3 T C 3: 108,118,293 probably benign Het
Hmcn2 C T 2: 31,346,630 P395L probably damaging Het
Igsf10 T C 3: 59,318,918 I2445V probably benign Het
Il10ra T C 9: 45,255,859 T465A probably benign Het
Itpr2 G A 6: 146,325,182 L1322F probably damaging Het
Man1b1 T C 2: 25,349,332 Y536H probably benign Het
P3h1 A G 4: 119,235,280 H170R probably damaging Het
Pakap A T 4: 57,648,038 T59S probably benign Het
Parp14 A G 16: 35,856,508 V1030A probably benign Het
Pdzd2 A G 15: 12,388,542 probably null Het
Pilra T C 5: 137,823,581 Y264C probably damaging Het
Ptprf A G 4: 118,210,713 V1799A possibly damaging Het
Rap1gap2 A G 11: 74,393,412 S649P possibly damaging Het
Rasgrf2 T C 13: 92,022,905 M426V probably damaging Het
Rpl9 A G 5: 65,390,848 I18T possibly damaging Het
Slc6a19 C A 13: 73,689,730 E217* probably null Het
Smtn C A 11: 3,530,165 R352L possibly damaging Het
Sv2a A G 3: 96,185,182 Y66C probably damaging Het
Upk1b A G 16: 38,784,910 I107T probably damaging Het
Yif1a T C 19: 5,089,785 V86A possibly damaging Het
Zfp820 T C 17: 21,819,820 T176A possibly damaging Het
Other mutations in Supv3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0090:Supv3l1 UTSW 10 62429706 missense probably benign 0.00
R0477:Supv3l1 UTSW 10 62430585 missense probably damaging 0.98
R0946:Supv3l1 UTSW 10 62429820 missense probably damaging 1.00
R1460:Supv3l1 UTSW 10 62443383 splice site probably benign
R1546:Supv3l1 UTSW 10 62432446 missense probably benign 0.08
R1941:Supv3l1 UTSW 10 62449612 missense probably benign
R3916:Supv3l1 UTSW 10 62449420 missense possibly damaging 0.67
R5030:Supv3l1 UTSW 10 62430615 missense probably damaging 1.00
R5040:Supv3l1 UTSW 10 62447065 missense possibly damaging 0.93
R5051:Supv3l1 UTSW 10 62443417 missense probably damaging 0.99
R5085:Supv3l1 UTSW 10 62435512 missense probably benign 0.00
R5288:Supv3l1 UTSW 10 62430596 missense possibly damaging 0.90
R5359:Supv3l1 UTSW 10 62432399 missense probably damaging 0.96
R5372:Supv3l1 UTSW 10 62432357 missense probably damaging 0.99
R5384:Supv3l1 UTSW 10 62430596 missense possibly damaging 0.90
R5385:Supv3l1 UTSW 10 62430596 missense possibly damaging 0.90
R5527:Supv3l1 UTSW 10 62429829 missense probably damaging 1.00
R5602:Supv3l1 UTSW 10 62430592 missense possibly damaging 0.81
R5713:Supv3l1 UTSW 10 62430504 missense possibly damaging 0.91
R6150:Supv3l1 UTSW 10 62435722 missense possibly damaging 0.90
R6220:Supv3l1 UTSW 10 62439021 missense possibly damaging 0.82
R6903:Supv3l1 UTSW 10 62441237 missense probably damaging 1.00
R6941:Supv3l1 UTSW 10 62430586 missense possibly damaging 0.86
R7187:Supv3l1 UTSW 10 62435549 missense probably damaging 1.00
R7250:Supv3l1 UTSW 10 62445067 missense probably damaging 1.00
R7438:Supv3l1 UTSW 10 62430470 critical splice donor site probably null
R7439:Supv3l1 UTSW 10 62430615 missense probably damaging 0.99
Posted On2016-08-02