Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Nceh1'

353658

Institutional Source

Beutler Lab

Gene Symbol

Nceh1

Ensembl Gene

ENSMUSG00000027698

Gene Name

neutral cholesterol ester hydrolase 1

Synonyms

mKIAA1363, CPO-BP, Aadacl1, B230106I24Rik

MMRRC Submission

041937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27237153-27299112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27295818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 360 (R360C)

Ref Sequence

ENSEMBL: ENSMUSP00000045864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046515] [ENSMUST00000091284]

AlphaFold

Q8BLF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046515
AA Change: R360C

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

SMART Domains

Protein: ENSMUSP00000045864
Gene: ENSMUSG00000027698
AA Change: R360C

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Abhydrolase_3	109	290	6.6e-36	PFAM
Pfam:Abhydrolase_3	294	382	3.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091284

SMART Domains

Protein: ENSMUSP00000088829
Gene: ENSMUSG00000027698

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Abhydrolase_3	109	152	6.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140872

Meta Mutation Damage Score

0.2756

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal organophosphorus metabolism and cholesterol homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Clnk	G	A	5: 38,899,180 (GRCm39)		probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hc	T	C	2: 34,929,260 (GRCm39)	E279G	possibly damaging	Het
Hivep1	C	T	13: 42,309,326 (GRCm39)	T522M	probably benign	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Kcnq1	A	T	7: 142,661,466 (GRCm39)	Y124F	probably benign	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Or8b48	T	A	9: 38,493,327 (GRCm39)	F251L	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Srp68	A	T	11: 116,156,227 (GRCm39)	C172S	probably damaging	Het
Stk25	A	G	1: 93,551,142 (GRCm39)		probably null	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Topors	A	T	4: 40,261,694 (GRCm39)	V530D	probably benign	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		probably benign	Het

Other mutations in Nceh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Nceh1	APN	3	27,295,462 (GRCm39)	missense	probably damaging	1.00
IGL02113:Nceh1	APN	3	27,277,040 (GRCm39)	missense	probably damaging	1.00
cerdo	UTSW	3	27,295,420 (GRCm39)	nonsense	probably null
BB006:Nceh1	UTSW	3	27,333,396 (GRCm39)	missense	probably benign	0.00
BB016:Nceh1	UTSW	3	27,333,396 (GRCm39)	missense	probably benign	0.00
R0281:Nceh1	UTSW	3	27,276,953 (GRCm39)	missense	possibly damaging	0.64
R0854:Nceh1	UTSW	3	27,295,468 (GRCm39)	missense	probably damaging	1.00
R1562:Nceh1	UTSW	3	27,293,701 (GRCm39)	missense	probably damaging	1.00
R1689:Nceh1	UTSW	3	27,280,231 (GRCm39)	missense	probably damaging	0.99
R1918:Nceh1	UTSW	3	27,237,324 (GRCm39)	missense	probably damaging	1.00
R2851:Nceh1	UTSW	3	27,295,504 (GRCm39)	missense	probably damaging	1.00
R3959:Nceh1	UTSW	3	27,333,345 (GRCm39)	missense	probably benign	0.01
R4420:Nceh1	UTSW	3	27,295,798 (GRCm39)	missense	probably damaging	1.00
R5165:Nceh1	UTSW	3	27,295,677 (GRCm39)	missense	probably benign
R5243:Nceh1	UTSW	3	27,295,837 (GRCm39)	missense	probably damaging	1.00
R5255:Nceh1	UTSW	3	27,237,288 (GRCm39)	missense	probably damaging	0.96
R5598:Nceh1	UTSW	3	27,280,248 (GRCm39)	missense	probably benign	0.01
R6076:Nceh1	UTSW	3	27,333,344 (GRCm39)	missense	probably benign	0.00
R6337:Nceh1	UTSW	3	27,276,956 (GRCm39)	missense	probably damaging	0.96
R6729:Nceh1	UTSW	3	27,295,420 (GRCm39)	nonsense	probably null
R6744:Nceh1	UTSW	3	27,295,938 (GRCm39)	missense	probably damaging	1.00
R7618:Nceh1	UTSW	3	27,237,366 (GRCm39)	critical splice donor site	probably null
R7749:Nceh1	UTSW	3	27,261,531 (GRCm39)	missense	probably benign
R7929:Nceh1	UTSW	3	27,333,396 (GRCm39)	missense	probably benign	0.00
R8040:Nceh1	UTSW	3	27,295,374 (GRCm39)	missense	probably benign	0.00
R8350:Nceh1	UTSW	3	27,293,813 (GRCm39)	missense	probably damaging	0.99
R8450:Nceh1	UTSW	3	27,293,813 (GRCm39)	missense	probably damaging	0.99
R8969:Nceh1	UTSW	3	27,276,885 (GRCm39)	missense	probably null	0.00
R9004:Nceh1	UTSW	3	27,293,726 (GRCm39)	missense	possibly damaging	0.81
R9202:Nceh1	UTSW	3	27,333,428 (GRCm39)	missense	probably benign	0.00
R9242:Nceh1	UTSW	3	27,293,777 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCGACTGGACATCCCTGTTG -3'
(R):5'- AACGGAGGTCAAGAGCTTCATG -3'

Sequencing Primer
(F):5'- TGTTGCCCTCGTCCATCAAAAAG -3'
(R):5'- CATGCGTCTGAGGAGTTTCC -3'

Posted On

2015-10-21