Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01129:Srd5a3'

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51162

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srd5a3

Ensembl Gene

ENSMUSG00000029233

Gene Name

steroid 5 alpha-reductase 3

Synonyms

D730040M03Rik, 1110025P14Rik, Srd5a2l

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

76140271-76155504 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 76149746 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031143] [ENSMUST00000113506] [ENSMUST00000113507] [ENSMUST00000127278] [ENSMUST00000152642]

Predicted Effect

probably benign
Transcript: ENSMUST00000031143

SMART Domains

Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	132	150	N/A	INTRINSIC
Pfam:Steroid_dh	168	330	4.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113506

SMART Domains

Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Steroid_dh	44	206	2.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113507

SMART Domains

Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Steroid_dh	44	206	2.3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124217

Predicted Effect

probably benign
Transcript: ENSMUST00000127278

SMART Domains

Protein: ENSMUSP00000116801
Gene: ENSMUSG00000029233

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138699

Predicted Effect

probably benign
Transcript: ENSMUST00000152642

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality between E11.5 and E13.5 with open neural tubes, failure to turn, dilated hearts, and ventral body wall defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	A	T	X: 67,920,604	F216L	possibly damaging	Het
Bace2	T	G	16: 97,408,430	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ckap2	C	T	8: 22,169,758	G569D	probably damaging	Het
Col11a1	T	C	3: 114,185,873		probably benign	Het
Col1a2	G	A	6: 4,535,846	D939N	unknown	Het
Creb3l2	A	T	6: 37,353,634		probably benign	Het
Cuedc1	T	A	11: 88,183,254	S205T	possibly damaging	Het
Cux1	G	A	5: 136,304,718		probably benign	Het
Cyp3a59	A	G	5: 146,098,279	M256V	probably benign	Het
Gzf1	C	A	2: 148,690,996	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,994,965	D575E	probably benign	Het
Lypd3	A	G	7: 24,640,593	M362V	probably benign	Het
Mppe1	C	A	18: 67,237,444	G61*	probably null	Het
Nr2c2	T	A	6: 92,158,416	D328E	probably benign	Het
Olfr6	T	C	7: 106,956,427	N170D	probably damaging	Het
Pfn4	T	A	12: 4,775,505	V114E	probably damaging	Het
Rab14	T	C	2: 35,183,386		probably benign	Het
Slc30a9	G	T	5: 67,342,143	G315C	probably damaging	Het
Spag16	A	T	1: 69,896,522	S303C	probably benign	Het
Spata16	C	T	3: 26,913,184		probably benign	Het
Srcap	T	C	7: 127,521,651	V161A	probably damaging	Het
Vmn1r18	A	T	6: 57,390,497	F24Y	probably benign	Het
Vmn1r78	A	T	7: 12,153,238	T259S	probably benign	Het
Zc3h13	G	A	14: 75,335,999	D1527N	probably damaging	Het

Other mutations in Srd5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Srd5a3	APN	5	76147709	missense	probably benign	0.05
R1055:Srd5a3	UTSW	5	76153638	missense	probably benign	0.30
R1777:Srd5a3	UTSW	5	76149783	missense	probably damaging	0.96
R1914:Srd5a3	UTSW	5	76147705	missense	probably benign
R1915:Srd5a3	UTSW	5	76147705	missense	probably benign
R4357:Srd5a3	UTSW	5	76147700	missense	probably damaging	0.99
R4359:Srd5a3	UTSW	5	76147700	missense	probably damaging	0.99
R4537:Srd5a3	UTSW	5	76149951	critical splice donor site	probably null
R5714:Srd5a3	UTSW	5	76153566	missense	probably benign	0.06
R6762:Srd5a3	UTSW	5	76153551	missense	probably benign
R7009:Srd5a3	UTSW	5	76149866	missense	probably benign	0.00
R7130:Srd5a3	UTSW	5	76149837	missense	possibly damaging	0.87
R7185:Srd5a3	UTSW	5	76153572	missense	probably benign	0.09
R7427:Srd5a3	UTSW	5	76154643	missense	probably benign	0.00
R7778:Srd5a3	UTSW	5	76154771	missense	probably damaging	0.99
R7824:Srd5a3	UTSW	5	76154771	missense	probably damaging	0.99
R7861:Srd5a3	UTSW	5	76147819	nonsense	probably null
R7869:Srd5a3	UTSW	5	76147736	missense	probably damaging	1.00
R8472:Srd5a3	UTSW	5	76149801	missense	possibly damaging	0.89
Z1088:Srd5a3	UTSW	5	76149821	missense	possibly damaging	0.90

Posted On

2013-06-21