Incidental Mutation 'R3916:Supv3l1'
ID 309758
Institutional Source Beutler Lab
Gene Symbol Supv3l1
Ensembl Gene ENSMUSG00000020079
Gene Name suppressor of var1, 3-like 1 (S. cerevisiae)
Synonyms 6330443E10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3916 (G1)
Quality Score 152
Status Not validated
Chromosome 10
Chromosomal Location 62264988-62285517 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62285199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 89 (D89G)
Ref Sequence ENSEMBL: ENSMUSP00000020273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020273] [ENSMUST00000181110]
AlphaFold Q80YD1
Predicted Effect possibly damaging
Transcript: ENSMUST00000020273
AA Change: D89G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: D89G

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 unknown
Transcript: ENSMUST00000162023
AA Change: D88G
Predicted Effect probably benign
Transcript: ENSMUST00000181110
SMART Domains Protein: ENSMUSP00000137990
Gene: ENSMUSG00000097129

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 39 53 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T G 2: 68,562,329 (GRCm39) F319V possibly damaging Het
Acad12 A G 5: 121,737,277 (GRCm39) V498A probably damaging Het
Adam19 A G 11: 45,951,762 (GRCm39) E37G probably benign Het
Anks3 A G 16: 4,765,143 (GRCm39) Y423H probably damaging Het
Arfgef1 A T 1: 10,259,668 (GRCm39) V600D probably benign Het
Arhgef18 T C 8: 3,504,197 (GRCm39) F939L probably benign Het
Arhgef2 A G 3: 88,540,340 (GRCm39) N127S probably damaging Het
Arid1b A G 17: 5,392,928 (GRCm39) S2100G probably benign Het
Atp1b2 A G 11: 69,493,901 (GRCm39) V93A probably damaging Het
Atrnl1 T C 19: 57,924,084 (GRCm39) V1283A possibly damaging Het
Bpifb5 A C 2: 154,070,101 (GRCm39) K184Q probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cant1 A G 11: 118,299,572 (GRCm39) V259A probably damaging Het
Ccdc89 A G 7: 90,076,033 (GRCm39) D81G probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cntnap4 C G 8: 113,602,165 (GRCm39) P1190A probably benign Het
Colgalt2 T A 1: 152,384,362 (GRCm39) Y567* probably null Het
Cyp4f18 A T 8: 72,749,881 (GRCm39) F256Y probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dop1a G A 9: 86,403,186 (GRCm39) R1462H probably damaging Het
Dync1i2 A G 2: 71,079,716 (GRCm39) T377A probably damaging Het
F2 G A 2: 91,455,833 (GRCm39) T600M probably damaging Het
Fam91a1 C T 15: 58,302,583 (GRCm39) H308Y probably damaging Het
Fkbp2 C A 19: 6,955,925 (GRCm39) probably null Het
Gabarapl2 T A 8: 112,679,028 (GRCm39) F115L probably benign Het
Heatr3 T G 8: 88,876,999 (GRCm39) probably null Het
Ifi204 T G 1: 173,583,341 (GRCm39) K292N possibly damaging Het
Itpkc A T 7: 26,927,728 (GRCm39) I62N probably benign Het
Kcnab1 G A 3: 65,211,585 (GRCm39) probably null Het
Krt88 G A 15: 101,350,809 (GRCm39) probably null Het
Larp4 C T 15: 99,888,284 (GRCm39) T107I probably benign Het
Lmo7 T C 14: 102,166,778 (GRCm39) probably benign Het
Lrrc37a T C 11: 103,346,344 (GRCm39) Y3174C possibly damaging Het
Lyzl4 T A 9: 121,412,101 (GRCm39) D105V probably damaging Het
Mst1 A G 9: 107,961,494 (GRCm39) I575V probably benign Het
Myh7 C A 14: 55,211,503 (GRCm39) E1555D probably damaging Het
Nwd1 T A 8: 73,394,439 (GRCm39) C608* probably null Het
Obox3 C A 7: 15,361,151 (GRCm39) C38F probably benign Het
P4ha2 A G 11: 54,017,074 (GRCm39) D441G probably benign Het
Pcdhb14 A T 18: 37,581,598 (GRCm39) I235F possibly damaging Het
Rasgrf2 A G 13: 92,167,296 (GRCm39) V259A probably damaging Het
Scn1a T C 2: 66,107,957 (GRCm39) T1590A probably damaging Het
Sdk1 T A 5: 142,036,999 (GRCm39) D817E probably damaging Het
Sema3b A G 9: 107,477,657 (GRCm39) F482S probably damaging Het
Slc35a5 G C 16: 44,978,521 (GRCm39) probably benign Het
Slc6a3 A G 13: 73,710,427 (GRCm39) I346V probably benign Het
Slu7 G T 11: 43,331,511 (GRCm39) probably null Het
Spns1 A T 7: 125,970,711 (GRCm39) probably null Het
Taf1c G A 8: 120,327,244 (GRCm39) R412W probably damaging Het
Tctn3 T A 19: 40,596,093 (GRCm39) T305S possibly damaging Het
Tekt1 A G 11: 72,236,574 (GRCm39) I296T possibly damaging Het
Tet2 T C 3: 133,191,816 (GRCm39) K873E possibly damaging Het
Thada G A 17: 84,749,210 (GRCm39) A587V possibly damaging Het
Tmprss15 T A 16: 78,782,884 (GRCm39) N712Y probably damaging Het
Tnks A G 8: 35,320,515 (GRCm39) S719P probably damaging Het
Tnrc6a A C 7: 122,780,607 (GRCm39) Q1332H probably damaging Het
Trpv3 A G 11: 73,174,560 (GRCm39) D309G possibly damaging Het
Tti2 A G 8: 31,643,547 (GRCm39) K221E possibly damaging Het
Uba5 A T 9: 103,931,389 (GRCm39) C227S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Unc80 T C 1: 66,716,654 (GRCm39) C2925R probably benign Het
Vmn2r83 G A 10: 79,314,744 (GRCm39) G331R probably benign Het
Xirp2 G T 2: 67,341,766 (GRCm39) V1336F probably benign Het
Zbed5 T C 5: 129,931,118 (GRCm39) Y356H possibly damaging Het
Other mutations in Supv3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03067:Supv3l1 APN 10 62,265,600 (GRCm39) missense probably damaging 1.00
R0090:Supv3l1 UTSW 10 62,265,485 (GRCm39) missense probably benign 0.00
R0477:Supv3l1 UTSW 10 62,266,364 (GRCm39) missense probably damaging 0.98
R0946:Supv3l1 UTSW 10 62,265,599 (GRCm39) missense probably damaging 1.00
R1460:Supv3l1 UTSW 10 62,279,162 (GRCm39) splice site probably benign
R1546:Supv3l1 UTSW 10 62,268,225 (GRCm39) missense probably benign 0.08
R1941:Supv3l1 UTSW 10 62,285,391 (GRCm39) missense probably benign
R5030:Supv3l1 UTSW 10 62,266,394 (GRCm39) missense probably damaging 1.00
R5040:Supv3l1 UTSW 10 62,282,844 (GRCm39) missense possibly damaging 0.93
R5051:Supv3l1 UTSW 10 62,279,196 (GRCm39) missense probably damaging 0.99
R5085:Supv3l1 UTSW 10 62,271,291 (GRCm39) missense probably benign 0.00
R5288:Supv3l1 UTSW 10 62,266,375 (GRCm39) missense possibly damaging 0.90
R5359:Supv3l1 UTSW 10 62,268,178 (GRCm39) missense probably damaging 0.96
R5372:Supv3l1 UTSW 10 62,268,136 (GRCm39) missense probably damaging 0.99
R5384:Supv3l1 UTSW 10 62,266,375 (GRCm39) missense possibly damaging 0.90
R5385:Supv3l1 UTSW 10 62,266,375 (GRCm39) missense possibly damaging 0.90
R5527:Supv3l1 UTSW 10 62,265,608 (GRCm39) missense probably damaging 1.00
R5602:Supv3l1 UTSW 10 62,266,371 (GRCm39) missense possibly damaging 0.81
R5713:Supv3l1 UTSW 10 62,266,283 (GRCm39) missense possibly damaging 0.91
R6150:Supv3l1 UTSW 10 62,271,501 (GRCm39) missense possibly damaging 0.90
R6220:Supv3l1 UTSW 10 62,274,800 (GRCm39) missense possibly damaging 0.82
R6903:Supv3l1 UTSW 10 62,277,016 (GRCm39) missense probably damaging 1.00
R6941:Supv3l1 UTSW 10 62,266,365 (GRCm39) missense possibly damaging 0.86
R7187:Supv3l1 UTSW 10 62,271,328 (GRCm39) missense probably damaging 1.00
R7250:Supv3l1 UTSW 10 62,280,846 (GRCm39) missense probably damaging 1.00
R7438:Supv3l1 UTSW 10 62,266,249 (GRCm39) critical splice donor site probably null
R7439:Supv3l1 UTSW 10 62,266,394 (GRCm39) missense probably damaging 0.99
R7515:Supv3l1 UTSW 10 62,268,090 (GRCm39) missense probably damaging 1.00
R7579:Supv3l1 UTSW 10 62,271,488 (GRCm39) missense possibly damaging 0.61
R7579:Supv3l1 UTSW 10 62,271,487 (GRCm39) missense probably damaging 1.00
R7923:Supv3l1 UTSW 10 62,280,860 (GRCm39) missense probably damaging 0.98
R7973:Supv3l1 UTSW 10 62,285,202 (GRCm39) missense probably damaging 1.00
R8098:Supv3l1 UTSW 10 62,265,282 (GRCm39) missense probably benign 0.01
R8327:Supv3l1 UTSW 10 62,277,004 (GRCm39) missense probably damaging 1.00
R8699:Supv3l1 UTSW 10 62,268,234 (GRCm39) missense possibly damaging 0.95
R8947:Supv3l1 UTSW 10 62,268,118 (GRCm39) missense probably benign 0.28
R9169:Supv3l1 UTSW 10 62,268,238 (GRCm39) missense probably damaging 1.00
R9509:Supv3l1 UTSW 10 62,265,411 (GRCm39) missense probably benign
R9520:Supv3l1 UTSW 10 62,268,181 (GRCm39) missense probably damaging 1.00
RF016:Supv3l1 UTSW 10 62,273,287 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GGGACAAAACTCTTAACCTCCTCG -3'
(R):5'- ATGTCCTTGCCTCGGTGTAC -3'

Sequencing Primer
(F):5'- TCTTAACCTCCTCGACCGAAGAG -3'
(R):5'- GCCTCGGTGTACCTTGCTG -3'
Posted On 2015-04-17