Mutagenetix > Incidental Mutation

Incidental Mutation 'R9635:Cyp3a41a'

725747

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a41a

Ensembl Gene

ENSMUSG00000075551

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 41A

Synonyms

steroid inducible, Cyp3a41

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R9635 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145630859-145656946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145652320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 60 (F60I)

Ref Sequence

ENSEMBL: ENSMUSP00000091659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094111]

AlphaFold

Q9JMA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094111
AA Change: F60I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091659
Gene: ENSMUSG00000075551
AA Change: F60I

Domain	Start	End	E-Value	Type
Pfam:p450	38	494	1.7e-136	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	T	5: 4,100,545 (GRCm39)	T2736S	probably benign	Het
AW209491	T	C	13: 14,811,957 (GRCm39)	V270A	probably benign	Het
Best3	A	T	10: 116,838,450 (GRCm39)	K169N	probably damaging	Het
Cabyr	A	G	18: 12,883,816 (GRCm39)	K101R	probably damaging	Het
Cfhr4	C	T	1: 139,701,764 (GRCm39)	V117I	probably damaging	Het
Chd5	A	T	4: 152,461,079 (GRCm39)	D1223V	possibly damaging	Het
Commd2	T	C	3: 57,559,064 (GRCm39)	D4G	probably benign	Het
Cox5b-ps	T	C	13: 21,685,294 (GRCm39)	T99A	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dnmbp	C	A	19: 43,855,974 (GRCm39)	A261S	probably benign	Het
Fcgbp	A	C	7: 27,800,832 (GRCm39)	T1293P	probably benign	Het
Gal3st2b	A	C	1: 93,868,777 (GRCm39)	N336T	probably benign	Het
Gm10309	T	C	17: 86,806,494 (GRCm39)	T7A	unknown	Het
Gm10322	A	T	10: 59,451,931 (GRCm39)	H16L	possibly damaging	Het
Gpr17	A	G	18: 32,080,199 (GRCm39)	L288P	probably damaging	Het
Ighe	T	C	12: 113,235,899 (GRCm39)	I142M		Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Lrrk2	T	A	15: 91,696,527 (GRCm39)	D2438E	probably benign	Het
Map3k20	G	A	2: 72,232,403 (GRCm39)	S353N	possibly damaging	Het
Moxd2	T	A	6: 40,863,000 (GRCm39)	D102V	possibly damaging	Het
Obscn	T	C	11: 58,972,686 (GRCm39)	E2120G	possibly damaging	Het
Or4f4-ps1	T	A	2: 111,330,267 (GRCm39)	C223*	probably null	Het
Or5p79	A	G	7: 108,221,654 (GRCm39)	I212V	probably benign	Het
Or6c5c	T	C	10: 129,299,463 (GRCm39)	V306A	probably benign	Het
Pcdhb5	A	T	18: 37,454,510 (GRCm39)	T297S	probably benign	Het
Pdcd2l	A	C	7: 33,892,356 (GRCm39)	L171R	possibly damaging	Het
Ppp4r3b	T	C	11: 29,138,113 (GRCm39)	S154P	probably benign	Het
Prc1	T	G	7: 79,962,047 (GRCm39)	M515R	probably benign	Het
Rbm34	A	G	8: 127,696,872 (GRCm39)	S77P	probably damaging	Het
Samsn1	T	G	16: 75,673,457 (GRCm39)	T140P	probably damaging	Het
Slc34a1	G	A	13: 55,556,940 (GRCm39)	V379M	probably damaging	Het
Stab2	T	A	10: 86,686,651 (GRCm39)	R2298*	probably null	Het
Trim10	G	A	17: 37,187,890 (GRCm39)	V369M	probably damaging	Het
Trpv6	T	C	6: 41,599,901 (GRCm39)	N585S	possibly damaging	Het
Ttn	C	T	2: 76,586,617 (GRCm39)	D21765N	possibly damaging	Het
Ubxn6	A	G	17: 56,376,189 (GRCm39)	L349P	probably damaging	Het
Vdac3	A	T	8: 23,077,575 (GRCm39)	S37R	probably damaging	Het
Vmn1r124	G	A	7: 20,993,720 (GRCm39)	L275F	probably benign	Het
Wdr17	A	T	8: 55,101,375 (GRCm39)	I964N	probably damaging	Het
Zdhhc22	A	G	12: 87,030,396 (GRCm39)	F184S	possibly damaging	Het
Zfp512	A	G	5: 31,623,669 (GRCm39)	H124R	probably benign	Het
Zswim4	T	C	8: 84,939,354 (GRCm39)	T843A	probably damaging	Het

Other mutations in Cyp3a41a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02284:Cyp3a41a	APN	5	145,641,673 (GRCm39)	splice site	probably benign
IGL03003:Cyp3a41a	APN	5	145,642,640 (GRCm39)	missense	probably benign
R0006:Cyp3a41a	UTSW	5	145,641,606 (GRCm39)	missense	probably benign	0.01
R0515:Cyp3a41a	UTSW	5	145,654,810 (GRCm39)	missense	probably damaging	1.00
R1052:Cyp3a41a	UTSW	5	145,642,621 (GRCm39)	missense	possibly damaging	0.49
R3708:Cyp3a41a	UTSW	5	145,654,733 (GRCm39)	critical splice donor site	probably null
R4049:Cyp3a41a	UTSW	5	145,650,350 (GRCm39)	missense	probably damaging	1.00
R4755:Cyp3a41a	UTSW	5	145,652,316 (GRCm39)	missense	probably damaging	1.00
R4975:Cyp3a41a	UTSW	5	145,656,858 (GRCm39)	start codon destroyed	probably null	1.00
R6519:Cyp3a41a	UTSW	5	145,652,308 (GRCm39)	missense	probably damaging	1.00
R6788:Cyp3a41a	UTSW	5	145,642,639 (GRCm39)	missense	probably benign	0.00
R7184:Cyp3a41a	UTSW	5	145,642,663 (GRCm39)	missense	probably benign	0.01
R7372:Cyp3a41a	UTSW	5	145,650,374 (GRCm39)	missense	possibly damaging	0.67
R7451:Cyp3a41a	UTSW	5	145,636,550 (GRCm39)	missense	probably benign	0.10
R7463:Cyp3a41a	UTSW	5	145,650,374 (GRCm39)	missense	probably damaging	1.00
R7766:Cyp3a41a	UTSW	5	145,654,827 (GRCm39)	missense	probably damaging	0.99
R9179:Cyp3a41a	UTSW	5	145,642,654 (GRCm39)	missense	probably benign
R9225:Cyp3a41a	UTSW	5	145,650,414 (GRCm39)	missense	probably benign	0.03
R9300:Cyp3a41a	UTSW	5	145,656,906 (GRCm39)	start gained	probably benign
R9308:Cyp3a41a	UTSW	5	145,656,858 (GRCm39)	start codon destroyed	probably null	1.00
R9403:Cyp3a41a	UTSW	5	145,639,008 (GRCm39)	missense	probably damaging	0.99
R9682:Cyp3a41a	UTSW	5	145,652,326 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ACCCTGGCAGTTAATAGGAGG -3'
(R):5'- CCAATGACACAATGACAGGGTG -3'

Sequencing Primer
(F):5'- CCTGGCAGTTAATAGGAGGCATTATC -3'
(R):5'- ACAGGGTGTCATGTGTCCTGC -3'

Posted On

2022-09-12