Mutagenetix > Incidental Mutation

Incidental Mutation 'R1562:Nceh1'

170657

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

039601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1562 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27237153-27299112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27293701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 153 (V153D)

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: V153D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045864
Gene: ENSMUSG00000027698
AA Change: V153D

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

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
Abca2	A	G	2: 25,336,331 (GRCm39)	I2201V	probably benign	Het
Adam22	T	C	5: 8,145,007 (GRCm39)	N817S	probably damaging	Het
Alox12	C	A	11: 70,140,991 (GRCm39)	R348L	probably damaging	Het
Asb17	A	T	3: 153,559,143 (GRCm39)	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733 (GRCm39)	S182P	possibly damaging	Het
Cenpe	T	C	3: 134,944,155 (GRCm39)	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,277,169 (GRCm39)	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917 (GRCm39)	I126V	probably benign	Het
Cubn	T	C	2: 13,432,778 (GRCm39)	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,258,179 (GRCm39)	L147Q	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fat2	T	C	11: 55,200,800 (GRCm39)	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,162 (GRCm39)	D15G	probably damaging	Het
Flt3	T	C	5: 147,281,323 (GRCm39)	E803G	probably damaging	Het
Folr1	T	G	7: 101,507,801 (GRCm39)	D213A	probably damaging	Het
Fus	T	C	7: 127,579,094 (GRCm39)	V359A	probably damaging	Het
Gabrb3	C	T	7: 57,415,262 (GRCm39)	R111*	probably null	Het
Gm17324	T	C	9: 78,355,964 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,848 (GRCm39)		probably null	Het
Ifi27l2b	T	A	12: 103,422,780 (GRCm39)		probably null	Het
Isg20	G	T	7: 78,569,891 (GRCm39)	C176F	probably benign	Het
Katnip	C	A	7: 125,442,020 (GRCm39)	S643Y	probably damaging	Het
Krt15	C	A	11: 100,024,007 (GRCm39)	V346L	probably benign	Het
Liat1	A	T	11: 75,894,024 (GRCm39)	I134F	probably damaging	Het
Med13l	A	G	5: 118,876,584 (GRCm39)	K920R	probably damaging	Het
Mlh3	A	T	12: 85,313,694 (GRCm39)	F831I	probably benign	Het
Mtmr9	A	G	14: 63,771,786 (GRCm39)	S267P	probably benign	Het
Mybpc1	C	T	10: 88,389,193 (GRCm39)	A406T	probably damaging	Het
Myh1	T	C	11: 67,102,196 (GRCm39)	M829T	probably benign	Het
Myo10	A	G	15: 25,780,497 (GRCm39)	Q209R	possibly damaging	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or1j19	A	G	2: 36,676,696 (GRCm39)	D53G	probably damaging	Het
Or2ag1b	C	T	7: 106,288,187 (GRCm39)	M250I	probably benign	Het
Or4c103	T	A	2: 88,513,423 (GRCm39)	I218F	probably benign	Het
Or8c20	C	A	9: 38,260,658 (GRCm39)	S87*	probably null	Het
Pcnt	G	A	10: 76,203,164 (GRCm39)	T2646M	probably benign	Het
Phf10	A	T	17: 15,166,512 (GRCm39)	C453S	probably damaging	Het
Plcb4	T	A	2: 135,812,367 (GRCm39)		probably null	Het
Plekhh1	A	G	12: 79,123,482 (GRCm39)	H1185R	probably benign	Het
Prmt3	G	T	7: 49,476,602 (GRCm39)	V404L	probably benign	Het
Ptprb	T	A	10: 116,175,372 (GRCm39)	D1122E	probably benign	Het
Rars1	A	G	11: 35,711,921 (GRCm39)		probably null	Het
Rasa2	G	T	9: 96,427,803 (GRCm39)	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,393,423 (GRCm39)	T40A	probably damaging	Het
Rem2	T	C	14: 54,713,775 (GRCm39)	V16A	probably benign	Het
Rlf	A	T	4: 121,007,588 (GRCm39)	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,592,098 (GRCm39)	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,176,048 (GRCm39)	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,304,130 (GRCm39)	S278P	probably benign	Het
Strn3	T	C	12: 51,680,401 (GRCm39)	T400A	probably benign	Het
Sycp2	A	T	2: 178,024,178 (GRCm39)	I402N	probably damaging	Het
Synj1	C	T	16: 90,784,290 (GRCm39)	V283I	probably benign	Het
Tas2r108	A	G	6: 40,471,000 (GRCm39)		probably null	Het
Ttpal	A	G	2: 163,457,323 (GRCm39)	N265S	probably benign	Het
Unc80	G	A	1: 66,677,116 (GRCm39)	G2015D	probably damaging	Het
Upf1	C	T	8: 70,796,017 (GRCm39)	W138*	probably null	Het
Vmn1r25	T	G	6: 57,955,786 (GRCm39)	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,510,301 (GRCm39)	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,296,865 (GRCm39)	T640N	probably damaging	Het
Wdr75	T	A	1: 45,843,030 (GRCm39)		probably null	Het
Zdbf2	T	G	1: 63,342,747 (GRCm39)	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,080,138 (GRCm39)	Q99R	probably benign	Het
Zfp964	C	T	8: 70,115,654 (GRCm39)	P85S	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
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
R4686:Nceh1	UTSW	3	27,295,818 (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'- AACACTGGGCTGTGGGACTCTAAG -3'
(R):5'- TCACCCCATCCCGTCTATCATAAGG -3'

Sequencing Primer
(F):5'- GAACTTCGTCTATACCAAGTTACC -3'
(R):5'- CGTCTATCATAAGGACCCAGAGG -3'

Posted On

2014-04-13