Mutagenetix > Incidental Mutation

Incidental Mutation 'R1178:Hmgcll1'

100164

Institutional Source

Beutler Lab

Gene Symbol

Hmgcll1

Ensembl Gene

ENSMUSG00000007908

Gene Name

3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1

Synonyms

MMRRC Submission

039250-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1178 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75922137-76043632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76037613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 169 (D169V)

Ref Sequence

ENSEMBL: ENSMUSP00000138914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008052] [ENSMUST00000117981] [ENSMUST00000183425] [ENSMUST00000183979]

AlphaFold

Q8JZS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000008052
AA Change: D272V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008052
Gene: ENSMUSG00000007908
AA Change: D272V

Domain	Start	End	E-Value	Type
Pfam:HMGL-like	47	321	2.2e-67	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117981
AA Change: D240V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114045
Gene: ENSMUSG00000007908
AA Change: D240V

Domain	Start	End	E-Value	Type
Pfam:HMGL-like	56	104	1e-10	PFAM
Pfam:HMGL-like	99	183	2e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183425
AA Change: D106V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139094
Gene: ENSMUSG00000007908
AA Change: D106V

Domain	Start	End	E-Value	Type
Pfam:HMGL-like	56	101	8.5e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183979
AA Change: D169V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138914
Gene: ENSMUSG00000007908
AA Change: D169V

Domain	Start	End	E-Value	Type
Pfam:HMGL-like	56	104	6.4e-11	PFAM
Pfam:HMGL-like	98	201	1.6e-32	PFAM

Meta Mutation Damage Score

0.9438

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

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

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	T	13: 81,588,156 (GRCm39)		probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Cep128	G	A	12: 91,226,929 (GRCm39)	T227M	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dync2h1	C	T	9: 7,101,193 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,384,839 (GRCm39)	V241I	probably benign	Het
Gfpt2	T	C	11: 49,714,136 (GRCm39)	S298P	probably benign	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Heatr5b	A	G	17: 79,120,698 (GRCm39)	L742P	probably damaging	Het
Hgd	A	G	16: 37,435,756 (GRCm39)	I115V	possibly damaging	Het
Ifi202b	A	T	1: 173,799,788 (GRCm39)	I231K	probably benign	Het
Itpripl1	A	G	2: 126,983,819 (GRCm39)	I101T	probably benign	Het
Kcnj9	A	G	1: 172,150,530 (GRCm39)	V361A	probably benign	Het
Map4k5	G	A	12: 69,863,152 (GRCm39)	T567M	probably damaging	Het
Ncapd3	A	G	9: 26,952,717 (GRCm39)	D82G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or8d2b	A	G	9: 38,789,051 (GRCm39)	E193G	probably damaging	Het
Or8g50	A	G	9: 39,648,642 (GRCm39)	Y177C	probably damaging	Het
Pfn2	C	T	3: 57,752,766 (GRCm39)	V3I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Psg17	T	C	7: 18,548,380 (GRCm39)	T464A	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab8b	A	G	9: 66,760,249 (GRCm39)	M125T	possibly damaging	Het
Rbl1	T	A	2: 156,989,575 (GRCm39)	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,794,725 (GRCm39)	Q149L	probably benign	Het
Scn2a	C	A	2: 65,517,123 (GRCm39)		probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Smcr8	G	A	11: 60,670,358 (GRCm39)	R502H	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Stk25	T	C	1: 93,551,111 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,176,779 (GRCm39)	N314D	probably damaging	Het
Tek	T	C	4: 94,692,524 (GRCm39)	C160R	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,081,286 (GRCm39)	D712A	probably damaging	Het
Tmprss13	A	T	9: 45,239,945 (GRCm39)	R84S	unknown	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubr1	T	A	2: 120,756,510 (GRCm39)	K706*	probably null	Het
Upk2	A	T	9: 44,365,470 (GRCm39)	S33T	probably benign	Het
Usp47	T	G	7: 111,709,205 (GRCm39)	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,381,208 (GRCm39)	Y411H	probably damaging	Het
Zfp143	C	T	7: 109,674,928 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,384,018 (GRCm39)	D105G	probably benign	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	Het

Other mutations in Hmgcll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02151:Hmgcll1	APN	9	75,988,720 (GRCm39)	missense	probably benign	0.01
mephistopheles	UTSW	9	75,988,731 (GRCm39)	missense	probably benign	0.00
P0005:Hmgcll1	UTSW	9	75,982,041 (GRCm39)	missense	possibly damaging	0.90
R3907:Hmgcll1	UTSW	9	75,979,943 (GRCm39)	missense	probably benign
R4161:Hmgcll1	UTSW	9	75,982,198 (GRCm39)	intron	probably benign
R4843:Hmgcll1	UTSW	9	75,979,916 (GRCm39)	missense	possibly damaging	0.79
R4896:Hmgcll1	UTSW	9	75,963,460 (GRCm39)	missense	possibly damaging	0.73
R5614:Hmgcll1	UTSW	9	75,988,675 (GRCm39)	missense	probably damaging	1.00
R5702:Hmgcll1	UTSW	9	75,991,672 (GRCm39)	missense	possibly damaging	0.67
R6272:Hmgcll1	UTSW	9	76,037,627 (GRCm39)	missense	probably damaging	1.00
R6681:Hmgcll1	UTSW	9	75,988,731 (GRCm39)	missense	probably benign	0.00
R7075:Hmgcll1	UTSW	9	75,963,834 (GRCm39)	missense	possibly damaging	0.89
R8097:Hmgcll1	UTSW	9	75,922,421 (GRCm39)	missense	probably benign	0.00
R8987:Hmgcll1	UTSW	9	76,037,592 (GRCm39)	critical splice acceptor site	probably null
R9215:Hmgcll1	UTSW	9	75,982,083 (GRCm39)	missense	probably benign
R9228:Hmgcll1	UTSW	9	75,991,732 (GRCm39)	missense	probably damaging	1.00
R9662:Hmgcll1	UTSW	9	75,922,397 (GRCm39)	missense	probably benign	0.31
X0054:Hmgcll1	UTSW	9	76,037,686 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15