Mutagenetix > Incidental Mutation

Incidental Mutation 'R8450:Nceh1'

654695

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

067830-MU

Accession Numbers

Essential gene?

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

Stock #

R8450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27237153-27299112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27293813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 190 (D190E)

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: D190E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045864
Gene: ENSMUSG00000027698
AA Change: D190E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Adgrv1	T	A	13: 81,583,962 (GRCm39)		probably null	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Armc12	T	A	17: 28,751,031 (GRCm39)	D82E	probably damaging	Het
Atg2a	T	C	19: 6,296,841 (GRCm39)	S382P	probably benign	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Cep170	A	G	1: 176,564,445 (GRCm39)	L271S		Het
Cers3	T	C	7: 66,414,090 (GRCm39)	F92S	possibly damaging	Het
Chmp4c	A	T	3: 10,450,746 (GRCm39)	M109L	possibly damaging	Het
Cnmd	T	A	14: 79,882,821 (GRCm39)	K202*	probably null	Het
Cnp	T	C	11: 100,467,267 (GRCm39)	I70T	probably damaging	Het
Col27a1	C	A	4: 63,248,134 (GRCm39)	T1721K	unknown	Het
Crtac1	G	A	19: 42,297,625 (GRCm39)	R242W	probably damaging	Het
Cry2	T	C	2: 92,244,286 (GRCm39)	R296G	probably benign	Het
Cyp2t4	A	G	7: 26,856,806 (GRCm39)	D282G	possibly damaging	Het
Dip2a	G	T	10: 76,100,690 (GRCm39)	T1495N	probably damaging	Het
Dmbt1	T	C	7: 130,687,147 (GRCm39)		probably null	Het
Dmp1	A	T	5: 104,360,765 (GRCm39)	K480N	probably damaging	Het
Dnah17	A	G	11: 117,977,873 (GRCm39)	S1820P	probably damaging	Het
Dnah6	A	G	6: 73,172,798 (GRCm39)	V220A	probably benign	Het
Eif4a3l1	C	T	6: 136,306,241 (GRCm39)	T234I	possibly damaging	Het
Epha3	T	C	16: 63,472,853 (GRCm39)	D344G	possibly damaging	Het
Esyt2	C	A	12: 116,327,102 (GRCm39)	Q557K	probably damaging	Het
Fam72a	A	T	1: 131,461,663 (GRCm39)	D116V	probably damaging	Het
Fam81a	T	C	9: 70,032,300 (GRCm39)	N64S	probably damaging	Het
Fat3	T	A	9: 15,826,435 (GRCm39)	T358S		Het
Frat2	A	T	19: 41,836,223 (GRCm39)	I43N	probably damaging	Het
Fryl	A	T	5: 73,226,073 (GRCm39)	D1863E	probably benign	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,422,573 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,363,273 (GRCm39)	Y422C	probably damaging	Het
Hap1	T	G	11: 100,240,107 (GRCm39)	D563A	probably damaging	Het
Hbb-bs	T	C	7: 103,475,951 (GRCm39)	D122G	probably benign	Het
Hs3st3b1	G	C	11: 63,780,390 (GRCm39)	P246A	probably benign	Het
Hsd17b4	T	G	18: 50,297,734 (GRCm39)	L341R	probably benign	Het
Kbtbd11	G	A	8: 15,078,603 (GRCm39)	V401M	probably damaging	Het
Lss	T	A	10: 76,371,429 (GRCm39)	L120Q	probably damaging	Het
Mdc1	T	G	17: 36,159,191 (GRCm39)	S524A	probably benign	Het
Myoz3	T	C	18: 60,712,074 (GRCm39)	Y168C	probably damaging	Het
Neb	T	C	2: 52,096,194 (GRCm39)	R5039G	probably benign	Het
Nup50	T	A	15: 84,819,476 (GRCm39)	V250E	probably benign	Het
Pcnx3	T	A	19: 5,723,254 (GRCm39)	N1314Y	probably damaging	Het
Pdzk1	A	G	3: 96,759,024 (GRCm39)	N143S	probably benign	Het
Rnf223	T	G	4: 156,217,120 (GRCm39)	L165R	probably damaging	Het
Sbf1	A	T	15: 89,183,712 (GRCm39)	F1267Y	probably damaging	Het
Scrn3	T	G	2: 73,160,113 (GRCm39)	I252R	possibly damaging	Het
Sdr39u1	T	C	14: 56,135,363 (GRCm39)	I193M	probably damaging	Het
Sh2d7	A	G	9: 54,448,191 (GRCm39)	R71G	probably benign	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Syk	T	C	13: 52,774,935 (GRCm39)	L225P	probably damaging	Het
Tbx1	A	T	16: 18,400,795 (GRCm39)	V463E	unknown	Het
Tmem67	C	T	4: 12,087,891 (GRCm39)	R19H	probably benign	Het
Ttn	T	A	2: 76,609,108 (GRCm39)	I17666F	possibly damaging	Het
Vcpip1	A	G	1: 9,794,831 (GRCm39)	V1180A	probably benign	Het
Vps13a	C	T	19: 16,631,871 (GRCm39)		probably null	Het
Wdr27	T	C	17: 15,152,787 (GRCm39)	T107A	probably benign	Het
Zfp106	T	C	2: 120,366,099 (GRCm39)	R58G		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
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
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'- CTCTCTAAATGTCCAGTGGCC -3'
(R):5'- ACTTCAGAAAACCCCGTGAG -3'

Sequencing Primer
(F):5'- TCCAGTGGCCATTAAAACATGGTG -3'
(R):5'- ACCCCGTGAGAAAGGTCC -3'

Posted On

2020-10-20