Incidental Mutation 'R5614:Hmgcll1'
ID490466
Institutional Source Beutler Lab
Gene Symbol Hmgcll1
Ensembl Gene ENSMUSG00000007908
Gene Name3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1
Synonyms
MMRRC Submission 043275-MU
Accession Numbers

Ncbi RefSeq: NM_173731; MGI: 2446108

Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #R5614 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location76014855-76136350 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76081393 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 182 (Y182C)
Ref Sequence ENSEMBL: ENSMUSP00000008052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008052] [ENSMUST00000117981] [ENSMUST00000183425] [ENSMUST00000183979]
Predicted Effect probably damaging
Transcript: ENSMUST00000008052
AA Change: Y182C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008052
Gene: ENSMUSG00000007908
AA Change: Y182C

DomainStartEndE-ValueType
Pfam:HMGL-like 47 321 2.2e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117981
AA Change: Y150C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114045
Gene: ENSMUSG00000007908
AA Change: Y150C

DomainStartEndE-ValueType
Pfam:HMGL-like 56 104 1e-10 PFAM
Pfam:HMGL-like 99 183 2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183425
SMART Domains Protein: ENSMUSP00000139094
Gene: ENSMUSG00000007908

DomainStartEndE-ValueType
Pfam:HMGL-like 56 101 8.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183979
SMART Domains Protein: ENSMUSP00000138914
Gene: ENSMUSG00000007908

DomainStartEndE-ValueType
Pfam:HMGL-like 56 104 6.4e-11 PFAM
Pfam:HMGL-like 98 201 1.6e-32 PFAM
Meta Mutation Damage Score 0.464 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931409K22Rik G A 5: 24,550,142 A330V probably benign Het
Abca1 A G 4: 53,046,132 V1712A probably damaging Het
Ankmy2 T C 12: 36,193,784 S333P probably damaging Het
Arfrp1 A G 2: 181,359,443 probably benign Het
Atp13a2 A G 4: 140,992,182 T21A probably benign Het
Bud23 C A 5: 135,059,112 A152S probably benign Het
Cant1 T C 11: 118,408,743 D260G probably benign Het
Ces1b T C 8: 93,068,208 I254M probably benign Het
Ces1d T C 8: 93,176,204 T375A probably benign Het
Cfap54 A G 10: 93,045,049 L384P probably damaging Het
Chrne C T 11: 70,615,053 V469I possibly damaging Het
Clspn A G 4: 126,580,962 E968G probably damaging Het
Col5a3 A G 9: 20,783,476 probably benign Het
Dtx4 T C 19: 12,482,183 Y419C probably damaging Het
Fam171b T A 2: 83,812,873 I42N probably damaging Het
Fam43a T C 16: 30,601,672 I358T possibly damaging Het
Fasn T C 11: 120,813,328 S1422G probably benign Het
Fig4 A T 10: 41,272,985 V157E probably damaging Het
Fus T C 7: 127,974,371 probably benign Het
Hmcn2 G T 2: 31,428,303 V3887F probably damaging Het
Hook2 T A 8: 85,002,508 I585N probably damaging Het
Iars2 T C 1: 185,289,508 T866A probably benign Het
Lrit1 T A 14: 37,061,954 M413K probably benign Het
Myl9 G A 2: 156,781,163 probably benign Het
Nelfa A T 5: 33,920,500 L179Q probably damaging Het
Nod2 A T 8: 88,664,196 D355V probably damaging Het
Npbwr1 A T 1: 5,916,811 S161R probably damaging Het
Nxpe2 A T 9: 48,323,101 F289I probably benign Het
Odf2 A G 2: 29,920,867 I538M probably damaging Het
Osbpl6 T A 2: 76,568,109 V379E probably damaging Het
Pkhd1 A G 1: 20,073,526 C3859R possibly damaging Het
Rgs1 G T 1: 144,246,257 T99N probably benign Het
Rnf6 T C 5: 146,218,100 probably null Het
Rtp1 C A 16: 23,431,190 Q102K possibly damaging Het
Sec24c T A 14: 20,682,738 V123E possibly damaging Het
Serpini2 T C 3: 75,257,707 probably benign Het
Stxbp5 A T 10: 9,760,894 probably benign Het
Tecta A G 9: 42,339,055 S1809P probably damaging Het
Tgfb2 T A 1: 186,625,513 I394F probably benign Het
Thg1l T C 11: 45,950,227 Y175C possibly damaging Het
Tmem67 C A 4: 12,061,755 K572N possibly damaging Het
Tollip T C 7: 141,892,088 T19A probably damaging Het
Ttn A G 2: 76,712,107 Y25185H probably damaging Het
Vgll2 A T 10: 52,025,222 R83* probably null Het
Wfdc8 G T 2: 164,603,203 A164E probably damaging Het
Ylpm1 T C 12: 85,064,944 probably benign Het
Zfp326 T A 5: 105,888,495 S91T probably damaging Het
Zfp638 T C 6: 83,929,641 F263L probably damaging Het
Zfp800 G A 6: 28,243,136 T610I probably damaging Het
Zmym4 A G 4: 126,910,936 F475L possibly damaging Het
Other mutations in Hmgcll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Hmgcll1 APN 9 76081438 missense probably benign 0.01
mephistopheles UTSW 9 76081449 missense probably benign 0.00
P0005:Hmgcll1 UTSW 9 76074759 missense possibly damaging 0.90
R1178:Hmgcll1 UTSW 9 76130331 missense probably damaging 1.00
R3907:Hmgcll1 UTSW 9 76072661 missense probably benign
R4161:Hmgcll1 UTSW 9 76074916 intron probably benign
R4843:Hmgcll1 UTSW 9 76072634 missense possibly damaging 0.79
R4896:Hmgcll1 UTSW 9 76056178 missense possibly damaging 0.73
R5702:Hmgcll1 UTSW 9 76084390 missense possibly damaging 0.67
R6272:Hmgcll1 UTSW 9 76130345 missense probably damaging 1.00
R6681:Hmgcll1 UTSW 9 76081449 missense probably benign 0.00
R7075:Hmgcll1 UTSW 9 76056552 missense possibly damaging 0.89
X0054:Hmgcll1 UTSW 9 76130404 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTCACAAGTTGAAAACTGATGC -3'
(R):5'- AAATTTCCCAGCCATGTTCTTG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AGCCATGTTCTTGTTAGTCCTTG -3'
Posted On2017-10-11