Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01072:Cyp3a44'

51046

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 #

IGL01072

Quality Score

Status

Chromosome

Chromosomal Location

145710793-145742684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145728438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 262 (D262G)

Ref Sequence

ENSEMBL: ENSMUSP00000069932 (fasta)

Gene Model

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

AlphaFold

Q9EQW4

Predicted Effect

probably benign
Transcript: ENSMUST00000067479
AA Change: D262G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: D262G

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc65	A	T	15: 98,606,277 (GRCm39)	M1L	unknown	Het
Dmbt1	C	T	7: 130,687,098 (GRCm39)		probably benign	Het
Dnmt3l	A	G	10: 77,888,605 (GRCm39)	N169S	probably benign	Het
Fbxw26	A	T	9: 109,552,905 (GRCm39)	F290I	probably damaging	Het
Foxj3	A	G	4: 119,467,226 (GRCm39)	M190V	probably benign	Het
Gm7275	T	C	16: 47,894,519 (GRCm39)		noncoding transcript	Het
Ly75	T	A	2: 60,184,840 (GRCm39)	D438V	probably damaging	Het
Lzts3	T	C	2: 130,477,365 (GRCm39)	E475G	probably damaging	Het
Mon2	A	T	10: 122,846,444 (GRCm39)	Y1375*	probably null	Het
Ndufc2	T	A	7: 97,049,490 (GRCm39)	V32D	probably damaging	Het
Nf2	A	C	11: 4,739,713 (GRCm39)	L431R	probably null	Het
Niban2	T	C	2: 32,802,427 (GRCm39)		probably benign	Het
Ptpn9	C	T	9: 56,943,987 (GRCm39)	T287I	possibly damaging	Het
Rictor	A	G	15: 6,819,043 (GRCm39)	D1422G	probably damaging	Het
Rpp40	C	A	13: 36,086,017 (GRCm39)	G115C	probably damaging	Het
Rps6ka5	A	G	12: 100,540,157 (GRCm39)	V522A	probably benign	Het
Scgb1b24	A	T	7: 33,443,434 (GRCm39)	D31V	probably damaging	Het
Trrap	C	A	5: 144,721,065 (GRCm39)		probably benign	Het
Vmn1r214	T	C	13: 23,219,300 (GRCm39)	Y265H	possibly damaging	Het

Other mutations in Cyp3a44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Cyp3a44	APN	5	145,711,157 (GRCm39)	makesense	probably null
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
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

2013-06-21