Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00813:Cyp3a44'

12565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp3a44

Ensembl Gene

ENSMUSG00000054417

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 44

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL00813

Quality Score

Status

Chromosome

Chromosomal Location

145710793-145742684 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 145711157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 505 (*505R)

Ref Sequence

ENSEMBL: ENSMUSP00000069932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067479]

AlphaFold

Q9EQW4

Predicted Effect

probably null
Transcript: ENSMUST00000067479
AA Change: *505R

SMART Domains

Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: *505R

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:p450	38	494	2.4e-133	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	A	1: 71,392,921 (GRCm39)		probably null	Het
Aco1	T	C	4: 40,180,290 (GRCm39)		probably null	Het
Bloc1s5	T	C	13: 38,803,158 (GRCm39)	N76S	probably damaging	Het
Epor	T	C	9: 21,871,887 (GRCm39)	T253A	possibly damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Hecw1	T	A	13: 14,452,961 (GRCm39)		probably null	Het
Hhla1	A	T	15: 65,813,810 (GRCm39)	V209E	probably damaging	Het
Ino80d	G	A	1: 63,132,462 (GRCm39)	P67L	probably damaging	Het
Lrrc37	A	C	11: 103,505,324 (GRCm39)	F2215V	probably benign	Het
Lysmd3	C	A	13: 81,813,361 (GRCm39)	N76K	probably damaging	Het
Map10	G	A	8: 126,398,671 (GRCm39)	R688Q	probably benign	Het
Mars1	A	T	10: 127,135,916 (GRCm39)	M554K	probably damaging	Het
Mgat5	G	A	1: 127,312,543 (GRCm39)	M227I	probably benign	Het
Nup210l	A	G	3: 90,039,725 (GRCm39)	I389V	probably benign	Het
Ppp1r16b	A	G	2: 158,598,885 (GRCm39)	K315R	probably damaging	Het
Rae1	A	G	2: 172,848,726 (GRCm39)	D114G	probably damaging	Het
Rbms1	T	C	2: 60,628,049 (GRCm39)	K64E	probably damaging	Het
Shox2	C	A	3: 66,882,777 (GRCm39)	Q105H	probably damaging	Het
Simc1	C	A	13: 54,694,799 (GRCm39)	F293L	probably damaging	Het
Slc11a1	A	G	1: 74,422,639 (GRCm39)	I289V	probably benign	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Stk32a	T	A	18: 43,443,585 (GRCm39)	V254E	probably benign	Het
Them5	A	G	3: 94,250,595 (GRCm39)	K53E	probably damaging	Het
Tmem67	T	C	4: 12,058,587 (GRCm39)		probably benign	Het
Wdr7	T	A	18: 63,868,675 (GRCm39)	L248Q	possibly damaging	Het

Other mutations in Cyp3a44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Cyp3a44	APN	5	145,716,534 (GRCm39)	missense	possibly damaging	0.84
IGL01062:Cyp3a44	APN	5	145,731,149 (GRCm39)	missense	possibly damaging	0.88
IGL01072:Cyp3a44	APN	5	145,728,438 (GRCm39)	missense	probably benign	0.01
IGL01515:Cyp3a44	APN	5	145,736,228 (GRCm39)	nonsense	probably null
IGL01738:Cyp3a44	APN	5	145,731,745 (GRCm39)	missense	probably damaging	1.00
IGL01869:Cyp3a44	APN	5	145,727,496 (GRCm39)	missense	probably damaging	0.99
IGL02269:Cyp3a44	APN	5	145,742,547 (GRCm39)	missense	probably benign	0.23
IGL02284:Cyp3a44	APN	5	145,725,179 (GRCm39)	missense	possibly damaging	0.91
IGL02479:Cyp3a44	APN	5	145,727,477 (GRCm39)	missense	probably benign	0.01
IGL02480:Cyp3a44	APN	5	145,731,715 (GRCm39)	missense	possibly damaging	0.93
IGL02506:Cyp3a44	APN	5	145,736,198 (GRCm39)	missense	probably damaging	1.00
IGL02957:Cyp3a44	APN	5	145,716,472 (GRCm39)	nonsense	probably null
IGL02978:Cyp3a44	APN	5	145,725,208 (GRCm39)	missense	probably damaging	0.98
R0427:Cyp3a44	UTSW	5	145,716,412 (GRCm39)	missense	possibly damaging	0.85
R1240:Cyp3a44	UTSW	5	145,711,250 (GRCm39)	missense	probably benign	0.02
R1247:Cyp3a44	UTSW	5	145,728,477 (GRCm39)	missense	probably damaging	1.00
R1657:Cyp3a44	UTSW	5	145,716,553 (GRCm39)	missense	probably damaging	0.99
R2096:Cyp3a44	UTSW	5	145,725,215 (GRCm39)	missense	probably damaging	1.00
R2156:Cyp3a44	UTSW	5	145,740,480 (GRCm39)	nonsense	probably null
R2412:Cyp3a44	UTSW	5	145,716,389 (GRCm39)	nonsense	probably null
R4817:Cyp3a44	UTSW	5	145,740,565 (GRCm39)	missense	possibly damaging	0.64
R4884:Cyp3a44	UTSW	5	145,714,792 (GRCm39)	missense	probably damaging	1.00
R5266:Cyp3a44	UTSW	5	145,731,207 (GRCm39)	missense	possibly damaging	0.66
R5301:Cyp3a44	UTSW	5	145,725,326 (GRCm39)	missense	probably damaging	0.99
R5463:Cyp3a44	UTSW	5	145,740,554 (GRCm39)	missense	probably benign	0.00
R5625:Cyp3a44	UTSW	5	145,716,376 (GRCm39)	missense	possibly damaging	0.74
R5635:Cyp3a44	UTSW	5	145,738,124 (GRCm39)	missense	possibly damaging	0.90
R5924:Cyp3a44	UTSW	5	145,731,137 (GRCm39)	missense	possibly damaging	0.54
R5964:Cyp3a44	UTSW	5	145,725,277 (GRCm39)	missense	possibly damaging	0.95
R5988:Cyp3a44	UTSW	5	145,731,728 (GRCm39)	missense	probably damaging	1.00
R6011:Cyp3a44	UTSW	5	145,738,084 (GRCm39)	critical splice donor site	probably null
R6032:Cyp3a44	UTSW	5	145,714,756 (GRCm39)	missense	probably damaging	1.00
R6032:Cyp3a44	UTSW	5	145,714,756 (GRCm39)	missense	probably damaging	1.00
R6413:Cyp3a44	UTSW	5	145,731,254 (GRCm39)	missense	probably damaging	1.00
R6579:Cyp3a44	UTSW	5	145,727,516 (GRCm39)	missense	probably damaging	0.99
R6587:Cyp3a44	UTSW	5	145,742,569 (GRCm39)	missense	probably benign	0.23
R6709:Cyp3a44	UTSW	5	145,714,902 (GRCm39)	splice site	probably null
R6727:Cyp3a44	UTSW	5	145,731,781 (GRCm39)	nonsense	probably null
R6825:Cyp3a44	UTSW	5	145,716,396 (GRCm39)	missense	probably damaging	1.00
R7142:Cyp3a44	UTSW	5	145,714,771 (GRCm39)	missense	probably benign	0.24
R7352:Cyp3a44	UTSW	5	145,740,498 (GRCm39)	missense	probably benign	0.01
R7921:Cyp3a44	UTSW	5	145,728,498 (GRCm39)	missense	probably damaging	1.00
R7962:Cyp3a44	UTSW	5	145,738,135 (GRCm39)	missense	probably benign
R8099:Cyp3a44	UTSW	5	145,725,212 (GRCm39)	missense	probably benign	0.12
R8240:Cyp3a44	UTSW	5	145,725,257 (GRCm39)	missense	probably damaging	0.99
R8836:Cyp3a44	UTSW	5	145,731,728 (GRCm39)	missense	probably damaging	1.00
R8923:Cyp3a44	UTSW	5	145,736,171 (GRCm39)	missense	probably damaging	1.00
R8934:Cyp3a44	UTSW	5	145,731,786 (GRCm39)	missense	possibly damaging	0.70
R9019:Cyp3a44	UTSW	5	145,727,519 (GRCm39)	missense	probably damaging	1.00
R9287:Cyp3a44	UTSW	5	145,725,202 (GRCm39)	missense	possibly damaging	0.93
R9293:Cyp3a44	UTSW	5	145,711,187 (GRCm39)	missense	probably benign	0.00
R9425:Cyp3a44	UTSW	5	145,740,548 (GRCm39)	nonsense	probably null
Z1176:Cyp3a44	UTSW	5	145,728,474 (GRCm39)	missense	probably benign	0.03

Posted On

2012-12-06