Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

145710793-145742684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145731745 bp (GRCm39)

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]

AlphaFold

Q9EQW4

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: 106,436,668 (GRCm39)	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,565,021 (GRCm39)	V29I	probably benign	Het
Akap6	G	T	12: 52,933,600 (GRCm39)	C364F	probably damaging	Het
Calcrl	T	G	2: 84,200,793 (GRCm39)	M84L	probably benign	Het
Cep128	C	A	12: 91,197,616 (GRCm39)	G402C	probably damaging	Het
Cfap43	A	G	19: 47,785,624 (GRCm39)	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,217,537 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,182,016 (GRCm39)		probably benign	Het
Dync2h1	A	C	9: 7,114,922 (GRCm39)	L179R	possibly damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Gfm1	A	G	3: 67,363,994 (GRCm39)	E490G	probably benign	Het
Glt1d1	T	G	5: 127,709,419 (GRCm39)		probably benign	Het
Gm10267	A	T	18: 44,292,342 (GRCm39)	I10K	possibly damaging	Het
Htra4	A	G	8: 25,515,727 (GRCm39)	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,587,061 (GRCm39)	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,233,443 (GRCm39)		probably benign	Het
Ipcef1	A	T	10: 6,840,575 (GRCm39)	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,373,648 (GRCm39)	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,873,749 (GRCm39)	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946 (GRCm39)	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,406,507 (GRCm39)	F126L	probably damaging	Het
Myo1e	A	G	9: 70,266,652 (GRCm39)	K631E	probably damaging	Het
Or8b43	A	C	9: 38,360,942 (GRCm39)	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,411,144 (GRCm39)		probably benign	Het
Serpina3b	T	G	12: 104,097,091 (GRCm39)	L124R	probably damaging	Het
Srgap2	T	C	1: 131,224,164 (GRCm39)	I95V	probably benign	Het
Sstr5	A	T	17: 25,710,584 (GRCm39)	I215N	probably damaging	Het
Top3b	G	A	16: 16,698,468 (GRCm39)	V104M	probably benign	Het
Tspan8	G	A	10: 115,653,570 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,898,020 (GRCm39)	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,577,364 (GRCm39)	G472S	probably damaging	Het
Zmpste24	A	T	4: 120,918,308 (GRCm39)	L438Q	probably 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
IGL01072:Cyp3a44	APN	5	145,728,438 (GRCm39)	missense	probably benign	0.01
IGL01515:Cyp3a44	APN	5	145,736,228 (GRCm39)	nonsense	probably null
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

2014-01-21