Mutagenetix > Incidental Mutation

Incidental Mutation 'R8964:Cyp39a1'

682652

Institutional Source

Beutler Lab

Gene Symbol

Cyp39a1

Ensembl Gene

ENSMUSG00000023963

Gene Name

cytochrome P450, family 39, subfamily a, polypeptide 1

Synonyms

oxysterol 7-alpha-hydroxylase

MMRRC Submission

068798-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8964 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43978316-44062322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44002558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 258 (T258S)

Ref Sequence

ENSEMBL: ENSMUSP00000130073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170988]

AlphaFold

Q9JKJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000170988
AA Change: T258S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963
AA Change: T258S

Domain	Start	End	E-Value	Type
Pfam:p450	32	464	1.9e-52	PFAM

Meta Mutation Damage Score

0.0687

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	C	T	7: 130,740,716 (GRCm39)	V167M	probably benign	Het
Abca6	G	A	11: 110,139,363 (GRCm39)	P37L	probably benign	Het
Abca9	A	T	11: 110,038,075 (GRCm39)	Y490*	probably null	Het
Abcb11	A	G	2: 69,117,061 (GRCm39)	V529A	possibly damaging	Het
Acox2	G	T	14: 8,243,768 (GRCm38)	Y529*	probably null	Het
Acte1	A	G	7: 143,423,030 (GRCm39)	T39A	probably benign	Het
Adck2	G	T	6: 39,551,083 (GRCm39)		probably benign	Het
Agxt	T	A	1: 93,072,869 (GRCm39)	C409S	possibly damaging	Het
Ahsa1	T	A	12: 87,318,131 (GRCm39)	I164N	probably damaging	Het
Arhgef1	A	G	7: 24,622,462 (GRCm39)	E647G	probably damaging	Het
Axin1	T	G	17: 26,361,718 (GRCm39)	F21V	probably damaging	Het
B3galnt1	A	G	3: 69,482,589 (GRCm39)	I224T	probably damaging	Het
Bche	T	C	3: 73,608,406 (GRCm39)	K340R	probably benign	Het
Bpifb5	T	A	2: 154,072,198 (GRCm39)	W302R	possibly damaging	Het
Cd72	G	A	4: 43,450,218 (GRCm39)	T230I	probably damaging	Het
Cdc42ep4	T	A	11: 113,620,278 (GRCm39)	M38L	probably damaging	Het
Cdcp1	G	A	9: 123,012,561 (GRCm39)	Q329*	probably null	Het
Clps	C	A	17: 28,777,730 (GRCm39)		probably benign	Het
Cluap1	A	G	16: 3,729,334 (GRCm39)		probably benign	Het
CN725425	C	T	15: 91,119,972 (GRCm39)	S31L	possibly damaging	Het
Cnbp	T	C	6: 87,821,086 (GRCm39)	N158D	probably benign	Het
Crebbp	A	G	16: 3,909,753 (GRCm39)	F1545S	probably damaging	Het
Dclk2	T	C	3: 86,743,698 (GRCm39)	D257G	probably damaging	Het
Dock7	A	T	4: 98,949,476 (GRCm39)	D455E		Het
Ehbp1	G	A	11: 22,101,154 (GRCm39)	Q259*	probably null	Het
Eif3a	A	T	19: 60,751,630 (GRCm39)	D1228E	unknown	Het
Has2	A	T	15: 56,531,061 (GRCm39)	D551E	probably damaging	Het
Herc1	T	A	9: 66,352,872 (GRCm39)	N2119K	probably damaging	Het
Hsdl1	C	T	8: 120,292,899 (GRCm39)	A179T	probably benign	Het
Htt	T	A	5: 35,062,720 (GRCm39)	M2818K	probably benign	Het
Il18bp	A	G	7: 101,665,591 (GRCm39)	S80P	possibly damaging	Het
Ints10	A	G	8: 69,264,631 (GRCm39)	M455V	probably benign	Het
Ipcef1	T	C	10: 6,869,789 (GRCm39)	T255A	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	A	3: 86,258,552 (GRCm39)	D1346E	probably benign	Het
Mdm1	T	A	10: 118,002,585 (GRCm39)	D635E	probably damaging	Het
Met	C	T	6: 17,527,144 (GRCm39)	P532S	probably damaging	Het
Nlrc5	T	A	8: 95,232,116 (GRCm39)	M1314K	possibly damaging	Het
Notch1	A	T	2: 26,371,062 (GRCm39)	S341R	possibly damaging	Het
Nr3c2	T	G	8: 77,881,941 (GRCm39)	L670V	probably damaging	Het
Nuak1	C	T	10: 84,210,734 (GRCm39)	M451I	probably benign	Het
Nubp1	G	A	16: 10,238,894 (GRCm39)	V170I	probably benign	Het
Or5v1	G	A	17: 37,809,664 (GRCm39)	G41S	probably damaging	Het
Or9g8	T	A	2: 85,606,964 (GRCm39)	I12N	probably damaging	Het
Pamr1	T	C	2: 102,464,811 (GRCm39)	V320A	possibly damaging	Het
Pcdhb11	T	A	18: 37,556,660 (GRCm39)	N663K	probably benign	Het
Pcnx1	G	A	12: 82,039,812 (GRCm39)	G1400D		Het
Pdxk	A	T	10: 78,283,771 (GRCm39)	V141E	probably benign	Het
Pex5	A	T	6: 124,375,740 (GRCm39)	N520K	probably benign	Het
Pklr	T	C	3: 89,050,036 (GRCm39)	V337A	probably benign	Het
Polb	T	C	8: 23,143,341 (GRCm39)	D17G	probably damaging	Het
Ppp1r9b	T	C	11: 94,882,705 (GRCm39)	L111P	probably damaging	Het
Prl3d1	A	G	13: 27,283,926 (GRCm39)	E165G	possibly damaging	Het
Prpf40a	A	G	2: 53,035,906 (GRCm39)	F657S	probably damaging	Het
Ptgs2	C	T	1: 149,980,798 (GRCm39)	R455C	probably damaging	Het
Pzp	T	A	6: 128,464,462 (GRCm39)	D1355V	probably benign	Het
Rasl12	T	A	9: 65,314,913 (GRCm39)	V72D	probably damaging	Het
Rfx2	C	A	17: 57,093,696 (GRCm39)	R266L	probably damaging	Het
Rnaseh2a	T	C	8: 85,686,434 (GRCm39)	D204G	probably benign	Het
S1pr3	A	C	13: 51,573,248 (GRCm39)	K143T	probably damaging	Het
Sdr39u1	C	A	14: 56,135,170 (GRCm39)	A258S	possibly damaging	Het
Sntb2	T	A	8: 107,707,808 (GRCm39)	S191T	possibly damaging	Het
Sod3	T	A	5: 52,525,696 (GRCm39)	F132I	probably damaging	Het
Sorcs2	C	T	5: 36,386,511 (GRCm39)	V176I	possibly damaging	Het
Syne1	T	C	10: 5,060,872 (GRCm39)	I7256V		Het
Tbc1d22b	A	G	17: 29,819,202 (GRCm39)	E459G	probably damaging	Het
Tbkbp1	A	G	11: 97,037,169 (GRCm39)	S278P	probably damaging	Het
Thoc5	A	T	11: 4,860,647 (GRCm39)	E245D	possibly damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tns2	T	C	15: 102,011,553 (GRCm39)	L11P	possibly damaging	Het
Trip11	A	G	12: 101,811,315 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,551,309 (GRCm39)	Y31361S	probably damaging	Het
Vars2	T	C	17: 35,970,699 (GRCm39)	E678G	possibly damaging	Het
Vav1	C	A	17: 57,606,122 (GRCm39)	H249N	probably benign	Het
Vmn2r9	T	A	5: 108,996,031 (GRCm39)	I206L	probably benign	Het
Vps4a	T	C	8: 107,771,686 (GRCm39)	S410P	probably damaging	Het
Wdr82	T	C	9: 106,053,861 (GRCm39)	Y71H	possibly damaging	Het
Zfand1	A	G	3: 10,413,631 (GRCm39)	Y19H	probably benign	Het
Zfp365	A	T	10: 67,745,088 (GRCm39)	I230N	probably damaging	Het
Zfp763	T	C	17: 33,240,710 (GRCm39)	T40A	probably benign	Het
Zfp788	A	T	7: 41,297,003 (GRCm39)	D51V	probably damaging	Het

Other mutations in Cyp39a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Cyp39a1	APN	17	44,012,434 (GRCm39)	missense	probably benign	0.01
IGL01070:Cyp39a1	APN	17	43,993,913 (GRCm39)	missense	probably benign	0.00
IGL01606:Cyp39a1	APN	17	44,057,509 (GRCm39)	splice site	probably benign
IGL01769:Cyp39a1	APN	17	44,060,806 (GRCm39)	missense	possibly damaging	0.53
IGL01916:Cyp39a1	APN	17	44,041,941 (GRCm39)	missense	probably damaging	1.00
IGL02374:Cyp39a1	APN	17	44,060,872 (GRCm39)	utr 3 prime	probably benign
IGL02402:Cyp39a1	APN	17	44,002,613 (GRCm39)	missense	probably benign	0.07
IGL03097:Cyp39a1	UTSW	17	43,993,941 (GRCm39)	nonsense	probably null
R0230:Cyp39a1	UTSW	17	44,042,903 (GRCm39)	missense	probably damaging	1.00
R1244:Cyp39a1	UTSW	17	44,060,836 (GRCm39)	missense	probably benign	0.13
R1572:Cyp39a1	UTSW	17	43,991,020 (GRCm39)	missense	probably damaging	1.00
R1656:Cyp39a1	UTSW	17	43,978,510 (GRCm39)	missense	possibly damaging	0.74
R4036:Cyp39a1	UTSW	17	43,987,831 (GRCm39)	missense	probably damaging	0.97
R4308:Cyp39a1	UTSW	17	44,041,855 (GRCm39)	splice site	probably null
R5081:Cyp39a1	UTSW	17	44,057,488 (GRCm39)	missense	probably damaging	1.00
R5197:Cyp39a1	UTSW	17	44,057,429 (GRCm39)	missense	possibly damaging	0.67
R5405:Cyp39a1	UTSW	17	43,987,831 (GRCm39)	missense	probably damaging	1.00
R5566:Cyp39a1	UTSW	17	43,996,099 (GRCm39)	missense	possibly damaging	0.92
R5578:Cyp39a1	UTSW	17	43,991,031 (GRCm39)	missense	possibly damaging	0.91
R6045:Cyp39a1	UTSW	17	44,042,882 (GRCm39)	missense	probably damaging	1.00
R6495:Cyp39a1	UTSW	17	44,002,585 (GRCm39)	missense	probably benign	0.41
R7191:Cyp39a1	UTSW	17	44,041,910 (GRCm39)	nonsense	probably null
R7431:Cyp39a1	UTSW	17	43,993,906 (GRCm39)	missense	probably benign
R7522:Cyp39a1	UTSW	17	43,978,370 (GRCm39)	start gained	probably benign
R7620:Cyp39a1	UTSW	17	44,036,544 (GRCm39)	splice site	probably null
R8022:Cyp39a1	UTSW	17	44,057,468 (GRCm39)	missense	probably damaging	1.00
R8143:Cyp39a1	UTSW	17	44,036,517 (GRCm39)	missense	probably benign	0.39
R8483:Cyp39a1	UTSW	17	43,993,898 (GRCm39)	missense	probably benign	0.01
R8549:Cyp39a1	UTSW	17	44,041,886 (GRCm39)	missense	possibly damaging	0.95
R9730:Cyp39a1	UTSW	17	43,991,029 (GRCm39)	missense	probably benign	0.01
Z1176:Cyp39a1	UTSW	17	44,041,939 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp39a1	UTSW	17	44,036,468 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAGACACAGTATCTCTCGG -3'
(R):5'- CAAAGTGTGTGAAGAATTGAAGTCC -3'

Sequencing Primer
(F):5'- TATCCCTAACACTGGGTAGAGGCTG -3'
(R):5'- TGTGTGAAGAATTGAAGTCCAAGAG -3'

Posted On

2021-10-11