Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Cyp3a41a'

711335

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: 0.143) question?

Stock #

R9403 (G1)

Quality Score

91.0077

Status

Not validated

Chromosome

Chromosomal Location

145630859-145656946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145639008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 320 (Y320F)

Ref Sequence

ENSEMBL: ENSMUSP00000091659 (fasta)

Gene Model

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

AlphaFold

Q9JMA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094111
AA Change: Y320F

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

SMART Domains

Protein: ENSMUSP00000091659
Gene: ENSMUSG00000075551
AA Change: Y320F

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: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	C	T	2: 151,780,892 (GRCm39)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,181,944 (GRCm39)	R340P	probably damaging	Het
Dmtf1	A	G	5: 9,171,927 (GRCm39)	L503S	possibly damaging	Het
Dock1	T	C	7: 134,770,125 (GRCm39)	V1795A	probably benign	Het
Dpys	C	G	15: 39,691,467 (GRCm39)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,676,515 (GRCm39)	V8A		Het
Fbn2	T	C	18: 58,199,179 (GRCm39)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,914,425 (GRCm39)	R453Q	probably benign	Het
Gm5591	T	A	7: 38,219,572 (GRCm39)	M434L	probably benign	Het
Gm5591	T	C	7: 38,221,680 (GRCm39)	T130A	probably damaging	Het
Gpld1	G	A	13: 25,163,712 (GRCm39)	V502I	probably benign	Het
Inhba	A	G	13: 16,191,966 (GRCm39)	H29R	probably benign	Het
Itga4	T	A	2: 79,156,004 (GRCm39)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,593,145 (GRCm39)	I280L	probably benign	Het
Malrd1	T	C	2: 15,618,988 (GRCm39)	V284A		Het
Maml2	C	T	9: 13,532,969 (GRCm39)	Q728*	probably null	Het
Mkln1	T	C	6: 31,409,905 (GRCm39)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm39)		probably null	Het
Muc16	A	G	9: 18,449,060 (GRCm39)		probably null	Het
Mylk	C	A	16: 34,696,012 (GRCm39)	S249*	probably null	Het
Naa35	G	A	13: 59,748,817 (GRCm39)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nup205	G	A	6: 35,176,909 (GRCm39)	R635H	probably benign	Het
Nup50l	T	G	6: 96,142,280 (GRCm39)	T255P	probably benign	Het
Or2w1	T	C	13: 21,317,865 (GRCm39)	F307L	probably benign	Het
Or4l1	T	C	14: 50,166,906 (GRCm39)	T32A	probably benign	Het
Padi3	T	C	4: 140,537,843 (GRCm39)	I26V	probably benign	Het
Polq	T	C	16: 36,882,215 (GRCm39)	S1460P	probably benign	Het
Ptgdr	A	G	14: 45,090,715 (GRCm39)	S348P		Het
Qsox1	A	G	1: 155,658,343 (GRCm39)	S409P	probably damaging	Het
Rergl	T	A	6: 139,471,852 (GRCm39)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,302,349 (GRCm39)	H22N	probably benign	Het
Semp2l2b	C	T	10: 21,943,840 (GRCm39)	D47N	possibly damaging	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,066,747 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,066,745 (GRCm39)		probably null	Het
Slc2a3	A	C	6: 122,713,569 (GRCm39)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,583,669 (GRCm39)	N540K	probably benign	Het
Slco6c1	A	T	1: 96,990,248 (GRCm39)	S664R	possibly damaging	Het
Tgm4	C	A	9: 122,881,837 (GRCm39)	S344R	probably damaging	Het
Trim61	T	A	8: 65,467,228 (GRCm39)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,810,016 (GRCm39)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,944,992 (GRCm39)	T395I	probably damaging	Het
Txndc9	T	C	1: 38,034,859 (GRCm39)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,816,049 (GRCm39)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,614,684 (GRCm39)	F313S	possibly 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
R9635:Cyp3a41a	UTSW	5	145,652,320 (GRCm39)	missense	possibly damaging	0.95
R9682:Cyp3a41a	UTSW	5	145,652,326 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TCTCTCACTCACACACGGAG -3'
(R):5'- TGCTGGCATGGTGAAGACAG -3'

Sequencing Primer
(F):5'- TCACACACGGAGACTCTATTTC -3'
(R):5'- GTGTGACTGAACACCATTTCCATAG -3'

Posted On

2022-05-16