Incidental Mutation 'R1941:Supv3l1'
ID 214019
Institutional Source Beutler Lab
Gene Symbol Supv3l1
Ensembl Gene ENSMUSG00000020079
Gene Name suppressor of var1, 3-like 1 (S. cerevisiae)
Synonyms 6330443E10Rik
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1941 (G1)
Quality Score 87
Status Not validated
Chromosome 10
Chromosomal Location 62264988-62285517 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 62285391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 25 (P25R)
Ref Sequence ENSEMBL: ENSMUSP00000020273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020273] [ENSMUST00000181110]
AlphaFold Q80YD1
Predicted Effect probably benign
Transcript: ENSMUST00000020273
AA Change: P25R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020273
Gene: ENSMUSG00000020079
AA Change: P25R

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: P24R
Predicted Effect unknown
Transcript: ENSMUST00000181110
AA Change: K38N
SMART Domains Protein: ENSMUSP00000137990
Gene: ENSMUSG00000097129
AA Change: K38N

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 39 53 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L 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
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
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'- TCTTGTCTAGAGGCCGAGTGAG -3'
(R):5'- AACGTACAGAGGTCGTGCTC -3'

Sequencing Primer
(F):5'- AGGCCGAGTGAGCTCCG -3'
(R):5'- TTCCTTCAGGCGCACGC -3'
Posted On 2014-07-14