Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01738:Cyp3a44'

105752

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

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

145773983-145805874 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145794935 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 134 (S134P)

Ref Sequence

ENSEMBL: ENSMUSP00000069932 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067479
AA Change: S134P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: S134P

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 105,710,036	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,381,038	V29I	probably benign	Het
Akap6	G	T	12: 52,886,817	C364F	probably damaging	Het
Calcrl	T	G	2: 84,370,449	M84L	probably benign	Het
Cep128	C	A	12: 91,230,842	G402C	probably damaging	Het
Cfap43	A	G	19: 47,797,185	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,375,617		probably benign	Het
Col27a1	A	G	4: 63,263,779		probably benign	Het
Dync2h1	A	C	9: 7,114,922	L179R	possibly damaging	Het
Ell	T	A	8: 70,581,681		probably null	Het
Gfm1	A	G	3: 67,456,661	E490G	probably benign	Het
Glt1d1	T	G	5: 127,632,355		probably benign	Het
Gm10267	A	T	18: 44,159,275	I10K	possibly damaging	Het
Htra4	A	G	8: 25,025,711	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,623,441	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,256,459		probably benign	Het
Ipcef1	A	T	10: 6,890,575	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,723,900	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,737,241	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,570,645	F126L	probably damaging	Het
Myo1e	A	G	9: 70,359,370	K631E	probably damaging	Het
Olfr902	A	C	9: 38,449,646	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,433,780		probably benign	Het
Serpina3b	T	G	12: 104,130,832	L124R	probably damaging	Het
Srgap2	T	C	1: 131,296,426	I95V	probably benign	Het
Sstr5	A	T	17: 25,491,610	I215N	probably damaging	Het
Top3b	G	A	16: 16,880,604	V104M	probably benign	Het
Tspan8	G	A	10: 115,817,665		probably null	Het
Vmn2r102	A	G	17: 19,677,758	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,429,498	G472S	probably damaging	Het
Zmpste24	A	T	4: 121,061,111	L438Q	probably damaging	Het

Other mutations in Cyp3a44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Cyp3a44	APN	5	145774347	makesense	probably null
IGL00972:Cyp3a44	APN	5	145779724	missense	possibly damaging	0.84
IGL01062:Cyp3a44	APN	5	145794339	missense	possibly damaging	0.88
IGL01072:Cyp3a44	APN	5	145791628	missense	probably benign	0.01
IGL01515:Cyp3a44	APN	5	145799418	nonsense	probably null
IGL01869:Cyp3a44	APN	5	145790686	missense	probably damaging	0.99
IGL02269:Cyp3a44	APN	5	145805737	missense	probably benign	0.23
IGL02284:Cyp3a44	APN	5	145788369	missense	possibly damaging	0.91
IGL02479:Cyp3a44	APN	5	145790667	missense	probably benign	0.01
IGL02480:Cyp3a44	APN	5	145794905	missense	possibly damaging	0.93
IGL02506:Cyp3a44	APN	5	145799388	missense	probably damaging	1.00
IGL02957:Cyp3a44	APN	5	145779662	nonsense	probably null
IGL02978:Cyp3a44	APN	5	145788398	missense	probably damaging	0.98
R0427:Cyp3a44	UTSW	5	145779602	missense	possibly damaging	0.85
R1240:Cyp3a44	UTSW	5	145774440	missense	probably benign	0.02
R1247:Cyp3a44	UTSW	5	145791667	missense	probably damaging	1.00
R1657:Cyp3a44	UTSW	5	145779743	missense	probably damaging	0.99
R2096:Cyp3a44	UTSW	5	145788405	missense	probably damaging	1.00
R2156:Cyp3a44	UTSW	5	145803670	nonsense	probably null
R2412:Cyp3a44	UTSW	5	145779579	nonsense	probably null
R4817:Cyp3a44	UTSW	5	145803755	missense	possibly damaging	0.64
R4884:Cyp3a44	UTSW	5	145777982	missense	probably damaging	1.00
R5266:Cyp3a44	UTSW	5	145794397	missense	possibly damaging	0.66
R5301:Cyp3a44	UTSW	5	145788516	missense	probably damaging	0.99
R5463:Cyp3a44	UTSW	5	145803744	missense	probably benign	0.00
R5625:Cyp3a44	UTSW	5	145779566	missense	possibly damaging	0.74
R5635:Cyp3a44	UTSW	5	145801314	missense	possibly damaging	0.90
R5924:Cyp3a44	UTSW	5	145794327	missense	possibly damaging	0.54
R5964:Cyp3a44	UTSW	5	145788467	missense	possibly damaging	0.95
R5988:Cyp3a44	UTSW	5	145794918	missense	probably damaging	1.00
R6011:Cyp3a44	UTSW	5	145801274	critical splice donor site	probably null
R6032:Cyp3a44	UTSW	5	145777946	missense	probably damaging	1.00
R6032:Cyp3a44	UTSW	5	145777946	missense	probably damaging	1.00
R6413:Cyp3a44	UTSW	5	145794444	missense	probably damaging	1.00
R6579:Cyp3a44	UTSW	5	145790706	missense	probably damaging	0.99
R6587:Cyp3a44	UTSW	5	145805759	missense	probably benign	0.23
R6709:Cyp3a44	UTSW	5	145778092	splice site	probably null
R6727:Cyp3a44	UTSW	5	145794971	nonsense	probably null
R6825:Cyp3a44	UTSW	5	145779586	missense	probably damaging	1.00
R7142:Cyp3a44	UTSW	5	145777961	missense	probably benign	0.24
R7352:Cyp3a44	UTSW	5	145803688	missense	probably benign	0.01
R7921:Cyp3a44	UTSW	5	145791688	missense	probably damaging	1.00
R7962:Cyp3a44	UTSW	5	145801325	missense	probably benign
R8099:Cyp3a44	UTSW	5	145788402	missense	probably benign	0.12
R8240:Cyp3a44	UTSW	5	145788447	missense	probably damaging	0.99
Z1176:Cyp3a44	UTSW	5	145791664	missense	probably benign	0.03

Posted On

2014-01-21