Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02978:Cyp3a44'

406450

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: 0.105) question?

Stock #

IGL02978

Quality Score

Status

Chromosome

Chromosomal Location

145710793-145742684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145725208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 331 (K331I)

Ref Sequence

ENSEMBL: ENSMUSP00000069932 (fasta)

Gene Model

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

AlphaFold

Q9EQW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000067479
AA Change: K331I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: K331I

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	A	3: 97,073,875 (GRCm39)	F160I	probably benign	Het
Agt	T	C	8: 125,284,502 (GRCm39)	D412G	possibly damaging	Het
Als2	C	A	1: 59,254,324 (GRCm39)	Q344H	probably benign	Het
Ate1	C	A	7: 129,996,470 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,744 (GRCm39)	H321R	probably damaging	Het
Cog2	C	A	8: 125,277,075 (GRCm39)	H694N	probably benign	Het
Col11a1	A	G	3: 113,855,211 (GRCm39)	N157S	unknown	Het
Dnaaf9	T	C	2: 130,569,082 (GRCm39)	D749G	probably damaging	Het
Gal3st4	C	A	5: 138,263,931 (GRCm39)	W351L	probably damaging	Het
H2-T22	A	T	17: 36,352,517 (GRCm39)	L136H	probably benign	Het
Ift25	A	G	4: 107,132,471 (GRCm39)	E86G	probably damaging	Het
Itpripl1	A	T	2: 126,982,932 (GRCm39)	F397I	probably damaging	Het
Lama1	C	T	17: 68,093,076 (GRCm39)	Q1705*	probably null	Het
Mfge8	A	T	7: 78,791,458 (GRCm39)	L248Q	probably damaging	Het
Mfge8	T	C	7: 78,791,476 (GRCm39)	E279G	possibly damaging	Het
Obox3	T	C	7: 15,360,178 (GRCm39)	T164A	probably benign	Het
Plat	T	C	8: 23,266,835 (GRCm39)	C276R	probably damaging	Het
Radil	G	A	5: 142,480,674 (GRCm39)	R594C	probably benign	Het
Shroom4	T	A	X: 6,497,244 (GRCm39)	D801E	probably benign	Het
Thsd4	C	T	9: 59,964,129 (GRCm39)		probably null	Het
Vmn2r77	C	T	7: 86,460,555 (GRCm39)	T627I	probably benign	Het
Vmn2r97	A	T	17: 19,168,298 (GRCm39)	T851S	probably benign	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
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
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

2016-08-02