Mutagenetix > Incidental Mutation

Incidental Mutation 'R7995:Srd5a1'

616051

Institutional Source

Beutler Lab

Gene Symbol

Srd5a1

Ensembl Gene

ENSMUSG00000021594

Gene Name

steroid 5 alpha-reductase 1

Synonyms

4930435F02Rik, Srd5a-1, 0610031P22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69721568-69759561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69759338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 10 (D10V)

Ref Sequence

ENSEMBL: ENSMUSP00000089097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022087] [ENSMUST00000091514] [ENSMUST00000109699] [ENSMUST00000143716] [ENSMUST00000176485]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022087

SMART Domains

Protein: ENSMUSP00000022087
Gene: ENSMUSG00000021595

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	83	209	4.5e-19	PFAM
Pfam:Nol1_Nop2_Fmu	199	376	1.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000091514
AA Change: D10V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000089097
Gene: ENSMUSG00000021594
AA Change: D10V

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
transmembrane domain	83	102	N/A	INTRINSIC
Pfam:DUF1295	104	242	4.6e-13	PFAM
Pfam:Steroid_dh	106	255	2.9e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109699

SMART Domains

Protein: ENSMUSP00000105321
Gene: ENSMUSG00000021595

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	169	428	3.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143716

Predicted Effect

probably benign
Transcript: ENSMUST00000176485

SMART Domains

Protein: ENSMUSP00000135455
Gene: ENSMUSG00000021595

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	114	240	3.5e-19	PFAM
Pfam:Nol1_Nop2_Fmu	230	399	1.1e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]
PHENOTYPE: Female mice homozygous for a targeted mutation exhibit parturiton defects and deliver small litters. Male homozygous mice appear healthy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,528 (GRCm39)	T137S	unknown	Het
Apbb1	T	C	7: 105,214,852 (GRCm39)	D462G	probably benign	Het
Arhgef1	T	G	7: 24,618,641 (GRCm39)	L387R	probably damaging	Het
Ass1	A	G	2: 31,376,552 (GRCm39)	I139V	probably benign	Het
B4galt5	A	G	2: 167,143,296 (GRCm39)	V376A	probably damaging	Het
Bdkrb1	A	G	12: 105,571,379 (GRCm39)	N315S	probably damaging	Het
Brap	A	T	5: 121,820,909 (GRCm39)	I429L	probably benign	Het
Capn2	A	G	1: 182,306,111 (GRCm39)		probably null	Het
Car10	A	G	11: 93,487,948 (GRCm39)	Y215C	probably damaging	Het
Ccdc102a	T	C	8: 95,634,495 (GRCm39)	T365A	probably damaging	Het
Cdc42ep1	A	G	15: 78,731,696 (GRCm39)	H47R	probably damaging	Het
Celsr3	G	A	9: 108,722,282 (GRCm39)	S2734N	probably damaging	Het
Cers5	A	C	15: 99,638,823 (GRCm39)		probably null	Het
Cfap43	T	C	19: 47,886,462 (GRCm39)	E51G	probably damaging	Het
Cftr	T	A	6: 18,214,155 (GRCm39)	D110E	probably damaging	Het
Cimap2	T	A	4: 106,473,112 (GRCm39)	H57L	probably benign	Het
Cntnap5a	A	G	1: 116,499,277 (GRCm39)	K1176E	probably damaging	Het
Dlx6	A	T	6: 6,867,277 (GRCm39)	R293S	probably damaging	Het
Dnah2	A	T	11: 69,411,563 (GRCm39)	F353Y	possibly damaging	Het
Dnajc13	A	T	9: 104,051,562 (GRCm39)	I1765N	probably damaging	Het
Ercc6	G	T	14: 32,284,526 (GRCm39)	R763L	probably damaging	Het
Furin	T	C	7: 80,045,195 (GRCm39)	N243S	probably damaging	Het
Hace1	A	G	10: 45,465,588 (GRCm39)	E48G	probably damaging	Het
Kcnv1	G	A	15: 44,972,743 (GRCm39)	T380I	probably damaging	Het
Klk4	T	A	7: 43,533,010 (GRCm39)	I32N	probably damaging	Het
Lingo2	T	C	4: 35,709,425 (GRCm39)	E185G	probably damaging	Het
Lrba	T	A	3: 86,526,858 (GRCm39)	W2239R	probably damaging	Het
Mical2	T	A	7: 111,980,975 (GRCm39)	D316E	probably benign	Het
Mlh1	G	T	9: 111,064,989 (GRCm39)	N555K	probably damaging	Het
Mroh2b	G	A	15: 4,950,839 (GRCm39)	W579*	probably null	Het
Mycs	G	A	X: 5,380,858 (GRCm39)	P74L	probably damaging	Het
Or5p62	A	T	7: 107,771,207 (GRCm39)	L248H	probably damaging	Het
Or6c1	T	C	10: 129,518,509 (GRCm39)	Y33C	probably damaging	Het
Pak2	T	C	16: 31,846,590 (GRCm39)	I365V	possibly damaging	Het
Pcdhga11	C	A	18: 37,890,078 (GRCm39)	S362*	probably null	Het
Pdk4	C	T	6: 5,487,093 (GRCm39)	V318M	probably benign	Het
Phc2	C	T	4: 128,603,401 (GRCm39)	T177M	probably damaging	Het
Phldb1	A	T	9: 44,626,669 (GRCm39)	L592Q	probably damaging	Het
Pigr	A	G	1: 130,769,423 (GRCm39)	Y78C	probably damaging	Het
Pnkp	T	A	7: 44,507,960 (GRCm39)	Y94*	probably null	Het
Polr2b	T	C	5: 77,473,614 (GRCm39)	V310A	possibly damaging	Het
Pramel21	A	G	4: 143,342,570 (GRCm39)	I226V	possibly damaging	Het
Prl7d1	T	A	13: 27,894,054 (GRCm39)	I171L	probably benign	Het
Rpusd4	A	G	9: 35,184,017 (GRCm39)	Y224C	probably damaging	Het
Scara5	C	A	14: 65,997,057 (GRCm39)	R390S	possibly damaging	Het
Scin	C	T	12: 40,129,804 (GRCm39)	V330I	probably benign	Het
Sdr42e1	T	A	8: 118,390,007 (GRCm39)	R211S	probably benign	Het
Slc36a3	C	A	11: 55,020,495 (GRCm39)	A292S	probably benign	Het
Spata31d1a	T	C	13: 59,848,924 (GRCm39)	D1068G	probably benign	Het
Sspo	G	T	6: 48,469,823 (GRCm39)	C4507F	probably damaging	Het
Tmem94	G	A	11: 115,688,797 (GRCm39)	E1335K	probably damaging	Het
Tnfrsf13b	C	T	11: 61,031,742 (GRCm39)	Q28*	probably null	Het
Tspan3	A	T	9: 56,054,438 (GRCm39)	F88I	probably benign	Het
Ttn	T	C	2: 76,592,519 (GRCm39)	K20871R	probably benign	Het
Ube2j2	C	A	4: 156,041,795 (GRCm39)	Y263*	probably null	Het
Vcan	T	C	13: 89,839,977 (GRCm39)	T1856A	probably benign	Het
Vrk3	T	C	7: 44,413,585 (GRCm39)	L218P	probably damaging	Het
Zfp236	G	T	18: 82,657,461 (GRCm39)	H761N	probably damaging	Het
Zfp462	C	A	4: 55,011,907 (GRCm39)	A1291E	probably damaging	Het
Zfp827	T	A	8: 79,844,887 (GRCm39)	S686T	possibly damaging	Het

Other mutations in Srd5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:Srd5a1	APN	13	69,759,181 (GRCm39)	nonsense	probably null
R1328:Srd5a1	UTSW	13	69,723,310 (GRCm39)	missense	probably damaging	1.00
R2924:Srd5a1	UTSW	13	69,734,834 (GRCm39)	missense	probably damaging	1.00
R2979:Srd5a1	UTSW	13	69,748,418 (GRCm39)	missense	probably damaging	1.00
R6787:Srd5a1	UTSW	13	69,759,418 (GRCm39)	unclassified	probably benign
R7332:Srd5a1	UTSW	13	69,759,173 (GRCm39)	missense	probably benign	0.01
R9019:Srd5a1	UTSW	13	69,748,413 (GRCm39)	nonsense	probably null
R9704:Srd5a1	UTSW	13	69,743,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACATAGCTAGCAGGACGC -3'
(R):5'- ATCTTCTGGTGGTGCTAGCC -3'

Sequencing Primer
(F):5'- AGGACGGATGCACTCGTAC -3'
(R):5'- TCCTGTCTCCGCCCGAG -3'

Posted On

2020-01-23