Mutagenetix > Incidental Mutation

Incidental Mutation 'R9516:Srd5a3'

718552

Institutional Source

Beutler Lab

Gene Symbol

Srd5a3

Ensembl Gene

ENSMUSG00000029233

Gene Name

steroid 5 alpha-reductase 3

Synonyms

Srd5a2l, 1110025P14Rik, D730040M03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76288118-76303351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76297794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 199 (N199D)

Ref Sequence

ENSEMBL: ENSMUSP00000031143 (fasta)

Gene Model

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

AlphaFold

Q9WUP4

Predicted Effect

probably benign
Transcript: ENSMUST00000031143
AA Change: N199D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
AA Change: N199D

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
AA Change: N75D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233
AA Change: N75D

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
AA Change: N75D

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233
AA Change: N75D

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

Predicted Effect

silent
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

probably benign
Transcript: ENSMUST00000152642

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	T	C	2: 150,153,122 (GRCm39)	N88D	possibly damaging	Het
4933430I17Rik	A	G	4: 62,460,916 (GRCm39)	I264V	probably benign	Het
Abcc8	A	G	7: 45,787,429 (GRCm39)	F591L	probably benign	Het
Abr	G	T	11: 76,310,658 (GRCm39)	T810K	probably damaging	Het
Abracl	T	C	10: 17,894,631 (GRCm39)	E6G	unknown	Het
Adamts3	A	T	5: 89,834,750 (GRCm39)	Y871N	probably damaging	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Alas1	A	G	9: 106,115,840 (GRCm39)		probably null	Het
Anapc1	A	C	2: 128,517,633 (GRCm39)	L337R	possibly damaging	Het
Apaf1	T	C	10: 90,915,816 (GRCm39)	Y24C	probably damaging	Het
Arhgef16	A	G	4: 154,365,432 (GRCm39)	V561A	possibly damaging	Het
Atp10b	T	A	11: 43,121,224 (GRCm39)	H962Q	probably benign	Het
Brsk2	A	G	7: 141,546,852 (GRCm39)	T432A	probably benign	Het
C1rl	T	A	6: 124,485,802 (GRCm39)	V391E	probably damaging	Het
Caps2	A	T	10: 112,036,637 (GRCm39)	H399L	probably benign	Het
Ccdc43	C	A	11: 102,577,207 (GRCm39)	K199N	probably benign	Het
Ccdc7a	G	T	8: 129,555,774 (GRCm39)	P1198T	unknown	Het
Cct7	A	G	6: 85,444,625 (GRCm39)	Y423C	possibly damaging	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep250	A	G	2: 155,833,459 (GRCm39)	T1795A	probably benign	Het
Clasp1	T	G	1: 118,431,560 (GRCm39)	S397A	possibly damaging	Het
Clock	A	C	5: 76,377,227 (GRCm39)	F691V	possibly damaging	Het
Cmklr1	A	G	5: 113,752,341 (GRCm39)	V220A	probably benign	Het
Coro2b	A	T	9: 62,335,291 (GRCm39)	Y298*	probably null	Het
Cspg4b	A	T	13: 113,455,649 (GRCm39)	N565I		Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dlk2	G	A	17: 46,613,432 (GRCm39)	G186D	probably damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dok3	A	G	13: 55,672,186 (GRCm39)	I164T	probably benign	Het
Ercc5	T	A	1: 44,207,041 (GRCm39)	D651E	probably damaging	Het
Erp27	T	C	6: 136,885,066 (GRCm39)	K244R	probably benign	Het
Fhip1a	G	A	3: 85,580,559 (GRCm39)	Q549*	probably null	Het
Flvcr2	T	C	12: 85,793,954 (GRCm39)	V110A	possibly damaging	Het
Gsta3	T	C	1: 21,320,060 (GRCm39)	L22P	probably damaging	Het
Hdac5	T	C	11: 102,093,522 (GRCm39)	T493A	probably benign	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Hmox1	A	G	8: 75,823,544 (GRCm39)	N71D	probably benign	Het
Hnrnpr	G	T	4: 136,063,615 (GRCm39)	V342F	probably damaging	Het
Ifi44	T	C	3: 151,438,108 (GRCm39)	D393G	probably damaging	Het
Ighv1-82	A	T	12: 115,916,566 (GRCm39)	F9I	probably damaging	Het
Kalrn	A	G	16: 33,854,864 (GRCm39)	S1999P	probably damaging	Het
Kcnq2	A	G	2: 180,776,753 (GRCm39)	S45P	probably benign	Het
Krt77	A	T	15: 101,769,779 (GRCm39)	Y364N	probably damaging	Het
Kti12	T	C	4: 108,705,476 (GRCm39)	V130A	probably benign	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lrrn1	T	A	6: 107,545,505 (GRCm39)	H434Q	probably benign	Het
Med13	A	T	11: 86,179,801 (GRCm39)	N1382K	probably benign	Het
Mrpl42	A	G	10: 95,332,684 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,569,103 (GRCm39)	D1140G	probably benign	Het
Mtrr	A	G	13: 68,720,755 (GRCm39)	I280T	probably benign	Het
Myh4	A	T	11: 67,139,290 (GRCm39)	I536F	probably damaging	Het
Myh4	T	A	11: 67,141,129 (GRCm39)	N730K	probably damaging	Het
Nat10	A	C	2: 103,563,364 (GRCm39)	L545R	probably damaging	Het
Nav3	T	A	10: 109,520,015 (GRCm39)	D2356V	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Nlrp1a	T	C	11: 70,998,488 (GRCm39)	T904A	probably benign	Het
Nod2	A	T	8: 89,397,050 (GRCm39)	N820I	probably damaging	Het
Nptx1	A	G	11: 119,433,381 (GRCm39)	V406A	probably damaging	Het
Nrdc	T	A	4: 108,901,863 (GRCm39)	I644K	probably benign	Het
Or4e1	T	C	14: 52,700,873 (GRCm39)	I198V	probably benign	Het
Ostf1	T	A	19: 18,573,735 (GRCm39)	I38F	probably benign	Het
Pacc1	G	A	1: 191,082,004 (GRCm39)	R337Q	probably damaging	Het
Pde4b	G	T	4: 102,462,183 (GRCm39)	D605Y	probably damaging	Het
Pde4d	A	G	13: 109,397,196 (GRCm39)	T3A		Het
Pknox1	A	G	17: 31,822,183 (GRCm39)	I317V	probably damaging	Het
Plekhh2	A	G	17: 84,918,240 (GRCm39)	N1283S	probably benign	Het
Ppp3cb	G	A	14: 20,573,868 (GRCm39)	A289V	probably damaging	Het
Prag1	A	G	8: 36,607,208 (GRCm39)	D983G	probably damaging	Het
Psmd13	C	T	7: 140,478,455 (GRCm39)	T62M		Het
Rab42	C	T	4: 132,029,890 (GRCm39)	V111I		Het
Rabl2	T	A	15: 89,474,631 (GRCm39)		probably null	Het
Rapgef6	T	A	11: 54,582,169 (GRCm39)	S1365R	probably damaging	Het
Rassf4	G	T	6: 116,617,265 (GRCm39)	H247N	possibly damaging	Het
Rbfox1	A	G	16: 7,227,573 (GRCm39)	T363A	probably benign	Het
Rbmyf9	T	A	Y: 3,774,888 (GRCm39)	F28L	probably damaging	Het
Sbf1	T	C	15: 89,184,742 (GRCm39)	D1091G	probably damaging	Het
Scaper	A	G	9: 55,593,275 (GRCm39)	V454A	probably benign	Het
Selenbp2	G	A	3: 94,607,352 (GRCm39)	D258N	probably benign	Het
Sirpa	A	T	2: 129,457,555 (GRCm39)	I210F	probably damaging	Het
Skint4	T	C	4: 112,015,236 (GRCm39)	S434P	probably benign	Het
Slc26a5	G	A	5: 22,016,337 (GRCm39)	Q682*	probably null	Het
Slco4a1	C	T	2: 180,115,943 (GRCm39)	S693F	possibly damaging	Het
Smpd3	A	G	8: 106,992,119 (GRCm39)	F145L	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Spata31d1c	A	T	13: 65,184,040 (GRCm39)	L527F	probably damaging	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Sytl1	A	G	4: 132,986,291 (GRCm39)		probably null	Het
Tas2r126	A	G	6: 42,412,307 (GRCm39)	H280R	probably null	Het
Tcf4	C	T	18: 69,652,944 (GRCm39)		probably benign	Het
Tlcd2	A	G	11: 75,359,112 (GRCm39)	T28A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem119	A	G	5: 113,933,267 (GRCm39)	L178P	probably damaging	Het
Tmprss7	T	C	16: 45,484,564 (GRCm39)	D532G	probably benign	Het
Tnfaip8l3	A	G	9: 53,934,777 (GRCm39)	I66T	probably benign	Het
Tor1b	A	G	2: 30,843,185 (GRCm39)	Y50C	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Tpra1	T	C	6: 88,887,221 (GRCm39)	V193A	probably benign	Het
Trip12	A	T	1: 84,735,215 (GRCm39)	V932E	probably damaging	Het
Ttn	T	A	2: 76,777,104 (GRCm39)	T1479S	unknown	Het
Unc13c	A	T	9: 73,392,220 (GRCm39)	V2044D	probably damaging	Het
Usp25	T	G	16: 76,852,076 (GRCm39)	V197G	probably damaging	Het
Vmn2r34	A	G	7: 7,675,366 (GRCm39)	V674A	probably benign	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het
Zfp821	A	G	8: 110,447,856 (GRCm39)	T66A	probably damaging	Het
Zfp97	T	A	17: 17,365,930 (GRCm39)	N476K	possibly damaging	Het

Other mutations in Srd5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Srd5a3	APN	5	76,297,593 (GRCm39)	splice site	probably benign
IGL02172:Srd5a3	APN	5	76,295,556 (GRCm39)	missense	probably benign	0.05
R1055:Srd5a3	UTSW	5	76,301,485 (GRCm39)	missense	probably benign	0.30
R1777:Srd5a3	UTSW	5	76,297,630 (GRCm39)	missense	probably damaging	0.96
R1914:Srd5a3	UTSW	5	76,295,552 (GRCm39)	missense	probably benign
R1915:Srd5a3	UTSW	5	76,295,552 (GRCm39)	missense	probably benign
R4357:Srd5a3	UTSW	5	76,295,547 (GRCm39)	missense	probably damaging	0.99
R4359:Srd5a3	UTSW	5	76,295,547 (GRCm39)	missense	probably damaging	0.99
R4537:Srd5a3	UTSW	5	76,297,798 (GRCm39)	critical splice donor site	probably null
R5714:Srd5a3	UTSW	5	76,301,413 (GRCm39)	missense	probably benign	0.06
R6762:Srd5a3	UTSW	5	76,301,398 (GRCm39)	missense	probably benign
R7009:Srd5a3	UTSW	5	76,297,713 (GRCm39)	missense	probably benign	0.00
R7130:Srd5a3	UTSW	5	76,297,684 (GRCm39)	missense	possibly damaging	0.87
R7185:Srd5a3	UTSW	5	76,301,419 (GRCm39)	missense	probably benign	0.09
R7427:Srd5a3	UTSW	5	76,302,490 (GRCm39)	missense	probably benign	0.00
R7778:Srd5a3	UTSW	5	76,302,618 (GRCm39)	missense	probably damaging	0.99
R7824:Srd5a3	UTSW	5	76,302,618 (GRCm39)	missense	probably damaging	0.99
R7861:Srd5a3	UTSW	5	76,295,666 (GRCm39)	nonsense	probably null
R7869:Srd5a3	UTSW	5	76,295,583 (GRCm39)	missense	probably damaging	1.00
R8472:Srd5a3	UTSW	5	76,297,648 (GRCm39)	missense	possibly damaging	0.89
R8966:Srd5a3	UTSW	5	76,301,437 (GRCm39)	missense	probably benign	0.22
R8969:Srd5a3	UTSW	5	76,301,493 (GRCm39)	missense	probably benign	0.01
R9150:Srd5a3	UTSW	5	76,297,615 (GRCm39)	missense	probably damaging	1.00
Z1088:Srd5a3	UTSW	5	76,297,668 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGACTGACCATGTCCCCTTC -3'
(R):5'- ACGGCCCCAGGAATGATTTG -3'

Sequencing Primer
(F):5'- TGCATTGCAGCGGCTGAG -3'
(R):5'- GCCCCAGGAATGATTTGTACTGTC -3'

Posted On

2022-07-18