Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01869:Cyp3a44'

178639

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 #

IGL01869

Quality Score

Status

Chromosome

Chromosomal Location

145710793-145742684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145727496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 278 (S278P)

Ref Sequence

ENSEMBL: ENSMUSP00000069932 (fasta)

Gene Model

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

AlphaFold

Q9EQW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000067479
AA Change: S278P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: S278P

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700026F02Rik	A	G	8: 71,495,689 (GRCm39)		noncoding transcript	Het
Adam29	T	C	8: 56,324,732 (GRCm39)	H574R	probably damaging	Het
Arap1	C	A	7: 101,049,490 (GRCm39)	T984K	probably damaging	Het
Ccdc146	A	T	5: 21,521,837 (GRCm39)	S396T	probably benign	Het
Col6a3	T	C	1: 90,700,770 (GRCm39)	K2587E	unknown	Het
Daw1	T	G	1: 83,159,965 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,943,502 (GRCm39)	K3200R	probably benign	Het
Efhd2	A	G	4: 141,601,913 (GRCm39)	F89S	probably damaging	Het
Fras1	A	G	5: 96,856,642 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,979 (GRCm39)	D68G	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm3604	A	T	13: 62,517,954 (GRCm39)	C134S	probably damaging	Het
Gpaa1	A	G	15: 76,217,198 (GRCm39)	T178A	probably benign	Het
Lama3	A	G	18: 12,657,820 (GRCm39)	N312S	possibly damaging	Het
Npepps	T	C	11: 97,126,948 (GRCm39)	I437M	probably damaging	Het
Or10q12	A	G	19: 13,746,534 (GRCm39)	D276G	probably benign	Het
Or11i1	C	T	3: 106,729,342 (GRCm39)	D178N	probably benign	Het
Rcor1	C	A	12: 111,070,193 (GRCm39)	T330K	possibly damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Sema3g	A	G	14: 30,945,624 (GRCm39)	E478G	probably damaging	Het
Smg9	A	G	7: 24,115,949 (GRCm39)	D280G	probably damaging	Het
Smtnl1	A	T	2: 84,641,741 (GRCm39)	*460R	probably null	Het
Syde1	A	G	10: 78,424,753 (GRCm39)	C360R	possibly damaging	Het
Szt2	A	G	4: 118,256,268 (GRCm39)	V197A	possibly damaging	Het
Tnrc6c	T	C	11: 117,646,274 (GRCm39)	V1405A	possibly damaging	Het
Ttbk1	A	G	17: 46,757,989 (GRCm39)	S882P	probably damaging	Het
Tubgcp4	T	A	2: 121,006,269 (GRCm39)	H116Q	possibly damaging	Het
Vmn1r192	T	A	13: 22,371,750 (GRCm39)	N157Y	probably damaging	Het
Vmn1r60	C	T	7: 5,547,228 (GRCm39)	V291M	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo5	C	T	17: 46,553,133 (GRCm39)	P1184L	possibly damaging	Het
Zfp946	T	G	17: 22,673,684 (GRCm39)	I146S	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
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

2014-05-07