Incidental Mutation 'R5602:Supv3l1'
ID 439091
Institutional Source Beutler Lab
Gene Symbol Supv3l1
Ensembl Gene ENSMUSG00000020079
Gene Name suppressor of var1, 3-like 1 (S. cerevisiae)
Synonyms 6330443E10Rik
MMRRC Submission 043154-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5602 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62264988-62285517 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 62266371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 602 (P602S)
Ref Sequence ENSEMBL: ENSMUSP00000020273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020273]
AlphaFold Q80YD1
Predicted Effect possibly damaging
Transcript: ENSMUST00000020273
AA Change: P602S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: P602S

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,315,459 (GRCm39) S73F possibly damaging Het
4932414N04Rik A T 2: 68,578,712 (GRCm39) *753L probably null Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 T C 11: 46,027,142 (GRCm39) S592P probably benign Het
Adamtsl3 A G 7: 82,206,447 (GRCm39) K843R possibly damaging Het
Ap2a2 A T 7: 141,184,855 (GRCm39) T213S probably benign Het
Asb5 A G 8: 55,038,974 (GRCm39) E280G probably benign Het
Becn1 T C 11: 101,179,778 (GRCm39) D403G probably damaging Het
Ccr7 G T 11: 99,036,315 (GRCm39) N202K probably benign Het
Cd36 T C 5: 18,019,790 (GRCm39) T104A possibly damaging Het
Cnot4 C T 6: 35,028,464 (GRCm39) W384* probably null Het
Col15a1 G A 4: 47,312,087 (GRCm39) V1301M probably damaging Het
Dock2 C A 11: 34,204,391 (GRCm39) A1384S probably benign Het
Ehbp1l1 T C 19: 5,758,698 (GRCm39) E1648G possibly damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Fras1 A G 5: 96,884,880 (GRCm39) Y2586C probably damaging Het
Galm T A 17: 80,457,568 (GRCm39) Y28* probably null Het
Ggt7 A G 2: 155,332,919 (GRCm39) V648A possibly damaging Het
Gm17067 T A 7: 42,357,839 (GRCm39) D221V probably damaging Het
Gpr3 T C 4: 132,937,805 (GRCm39) N289S probably damaging Het
Ighv11-2 A G 12: 114,012,277 (GRCm39) probably benign Het
Ighv11-2 G A 12: 114,012,099 (GRCm39) L39F probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Jak2 T A 19: 29,275,739 (GRCm39) N726K probably benign Het
Map4 T C 9: 109,881,768 (GRCm39) S211P possibly damaging Het
Mlh1 A T 9: 111,081,946 (GRCm39) L259Q probably damaging Het
Naa25 A G 5: 121,558,558 (GRCm39) E300G probably benign Het
Or8g34 A T 9: 39,373,326 (GRCm39) M200L probably benign Het
Or8g54 T A 9: 39,707,490 (GRCm39) V273E possibly damaging Het
Parva G A 7: 112,166,972 (GRCm39) V182I probably benign Het
Pcdhgb4 T C 18: 37,854,697 (GRCm39) I364T probably damaging Het
Pdik1l A G 4: 134,011,580 (GRCm39) S164P probably damaging Het
Pfas A T 11: 68,881,871 (GRCm39) I938N probably benign Het
Plscr1l1 G A 9: 92,234,721 (GRCm39) C152Y possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prob1 C T 18: 35,787,079 (GRCm39) V392M possibly damaging Het
Rasgrf1 T C 9: 89,793,624 (GRCm39) S134P possibly damaging Het
Rorb T A 19: 18,955,301 (GRCm39) Y20F probably damaging Het
Rsph9 G T 17: 46,445,909 (GRCm39) D220E probably damaging Het
Safb2 C A 17: 56,882,630 (GRCm39) K334N possibly damaging Het
Sall3 T C 18: 81,016,027 (GRCm39) T634A probably benign Het
Scaf1 A G 7: 44,657,007 (GRCm39) probably benign Het
Slco1a5 T A 6: 142,221,255 (GRCm39) probably benign Het
Spata21 C T 4: 140,824,210 (GRCm39) R158C probably benign Het
Srrm2 G A 17: 24,038,311 (GRCm39) probably benign Het
Stk38l C A 6: 146,659,998 (GRCm39) T10N probably benign Het
Timm44 C T 8: 4,316,769 (GRCm39) probably null Het
Tll2 T A 19: 41,093,420 (GRCm39) R465S possibly damaging Het
Tmem104 G A 11: 115,095,950 (GRCm39) A164T probably damaging Het
Tmem151b A G 17: 45,856,526 (GRCm39) S305P probably damaging Het
Utrn T C 10: 12,625,839 (GRCm39) D114G probably damaging Het
Vmn2r109 A T 17: 20,760,933 (GRCm39) M808K possibly damaging Het
Washc2 T A 6: 116,225,056 (GRCm39) D801E possibly damaging Het
Xkr4 T C 1: 3,286,751 (GRCm39) I480V probably benign Het
Zfp507 G T 7: 35,475,663 (GRCm39) S58* probably null Het
Zfp768 T A 7: 126,943,804 (GRCm39) D108V 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
R3916:Supv3l1 UTSW 10 62,285,199 (GRCm39) missense possibly damaging 0.67
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
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'- TAAACTTTCTACCTTGACGGAGCA -3'
(R):5'- TGTCTTTTCAAATATAGTAGGAAAGCG -3'

Sequencing Primer
(F):5'- TTTCTACCTTGACGGAGCAGAAGC -3'
(R):5'- CGTTAAGTAGCAATGAAACCAGCCTG -3'
Posted On 2016-10-26