Incidental Mutation 'R3156:Hmgcs1'
ID 263511
Institutional Source Beutler Lab
Gene Symbol Hmgcs1
Ensembl Gene ENSMUSG00000093930
Gene Name 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1
Synonyms B130032C06Rik
MMRRC Submission 040607-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R3156 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 120151915-120169796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120166614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 402 (T402I)
Ref Sequence ENSEMBL: ENSMUSP00000153064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179869] [ENSMUST00000224188]
AlphaFold Q8JZK9
Predicted Effect probably benign
Transcript: ENSMUST00000179869
AA Change: T402I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136944
Gene: ENSMUSG00000093930
AA Change: T402I

DomainStartEndE-ValueType
Pfam:HMG_CoA_synt_N 13 186 4e-111 PFAM
Pfam:HMG_CoA_synt_C 187 469 4e-134 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223791
Predicted Effect probably benign
Transcript: ENSMUST00000224188
AA Change: T402I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226092
Meta Mutation Damage Score 0.0972 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T C 1: 85,859,104 (GRCm39) probably benign Het
Adra2b T C 2: 127,205,570 (GRCm39) L29P probably damaging Het
Anxa9 A T 3: 95,209,716 (GRCm39) D134E probably benign Het
Atad1 A T 19: 32,684,355 (GRCm39) N14K probably benign Het
Cbl T C 9: 44,070,147 (GRCm39) I533M possibly damaging Het
Cdca2 T C 14: 67,935,612 (GRCm39) N368D possibly damaging Het
Cfap45 A T 1: 172,373,291 (GRCm39) N543Y possibly damaging Het
Col4a2 T A 8: 11,363,414 (GRCm39) probably benign Het
Dis3l T C 9: 64,219,032 (GRCm39) T633A probably benign Het
Dnah5 G A 15: 28,438,237 (GRCm39) probably benign Het
Fut2 A T 7: 45,300,091 (GRCm39) L227Q probably damaging Het
Gcnt2 T C 13: 41,014,654 (GRCm39) V275A probably benign Het
Glrp1 C A 1: 88,430,976 (GRCm39) Q131H unknown Het
Gm6871 T C 7: 41,223,079 (GRCm39) N3S probably benign Het
Hps6 A G 19: 45,992,180 (GRCm39) D39G probably damaging Het
Mab21l4 T A 1: 93,087,764 (GRCm39) I30F possibly damaging Het
Mycbp2 A T 14: 103,446,179 (GRCm39) probably benign Het
Myh6 A G 14: 55,182,125 (GRCm39) I1761T probably damaging Het
Neo1 T C 9: 58,796,262 (GRCm39) probably null Het
Or4k15c T C 14: 50,321,982 (GRCm39) D52G probably benign Het
Or7g27 A G 9: 19,250,720 (GRCm39) probably null Het
Patj A G 4: 98,562,465 (GRCm39) E1478G probably damaging Het
Paxbp1 T C 16: 90,832,878 (GRCm39) T304A probably benign Het
Rbp3 A T 14: 33,679,071 (GRCm39) K1006N probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ror2 G T 13: 53,271,400 (GRCm39) N306K probably damaging Het
Rusc1 T C 3: 88,999,038 (GRCm39) D248G probably benign Het
Secisbp2 A G 13: 51,816,711 (GRCm39) T288A probably benign Het
Setbp1 A G 18: 78,902,518 (GRCm39) V383A probably benign Het
Sez6 T A 11: 77,844,605 (GRCm39) S143T possibly damaging Het
Slc5a9 A T 4: 111,747,421 (GRCm39) I322N possibly damaging Het
Szt2 A G 4: 118,260,016 (GRCm39) probably null Het
Tex2 A G 11: 106,424,695 (GRCm39) probably null Het
Tonsl A T 15: 76,523,721 (GRCm39) L64Q probably damaging Het
Triml2 A G 8: 43,640,716 (GRCm39) N191D probably benign Het
Trpc1 C T 9: 95,603,185 (GRCm39) probably null Het
Yeats4 C T 10: 117,058,186 (GRCm39) V22I probably benign Het
Other mutations in Hmgcs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB007:Hmgcs1 UTSW 13 120,161,499 (GRCm39) missense possibly damaging 0.62
BB017:Hmgcs1 UTSW 13 120,161,499 (GRCm39) missense possibly damaging 0.62
R1521:Hmgcs1 UTSW 13 120,165,127 (GRCm39) missense probably benign 0.01
R3425:Hmgcs1 UTSW 13 120,166,668 (GRCm39) missense probably damaging 1.00
R5084:Hmgcs1 UTSW 13 120,161,520 (GRCm39) missense possibly damaging 0.82
R5560:Hmgcs1 UTSW 13 120,161,351 (GRCm39) splice site probably null
R6052:Hmgcs1 UTSW 13 120,166,995 (GRCm39) missense probably benign
R6746:Hmgcs1 UTSW 13 120,156,585 (GRCm39) critical splice donor site probably null
R6845:Hmgcs1 UTSW 13 120,162,674 (GRCm39) missense probably damaging 0.96
R6861:Hmgcs1 UTSW 13 120,161,535 (GRCm39) missense probably damaging 1.00
R7208:Hmgcs1 UTSW 13 120,162,620 (GRCm39) missense probably damaging 1.00
R7930:Hmgcs1 UTSW 13 120,161,499 (GRCm39) missense possibly damaging 0.62
R9157:Hmgcs1 UTSW 13 120,165,963 (GRCm39) missense probably benign 0.00
R9313:Hmgcs1 UTSW 13 120,165,963 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATCAGTCAGAGGTGGTAGGC -3'
(R):5'- AGGATTTTCACTGACATCACACTAG -3'

Sequencing Primer
(F):5'- TGGTAGGCAGCTGTCTCAAGAC -3'
(R):5'- TCACTGACATCACACTAGCACTAAAC -3'
Posted On 2015-02-05