Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Hsd3b5'

205580

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b5

Ensembl Gene

ENSMUSG00000038092

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5

Synonyms

3(beta)HSDV

MMRRC Submission

045015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98618634-98630252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98619728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 134 (Y134C)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044094]

AlphaFold

Q61694

Predicted Effect

probably benign
Transcript: ENSMUST00000044094
AA Change: Y134C

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: Y134C

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	261	1.8e-8	PFAM
Pfam:KR	5	133	3.2e-8	PFAM
Pfam:Polysacc_synt_2	6	134	5.9e-12	PFAM
Pfam:NmrA	6	147	2.7e-12	PFAM
Pfam:Epimerase	6	249	1.2e-23	PFAM
Pfam:GDP_Man_Dehyd	7	187	5.6e-12	PFAM
Pfam:3Beta_HSD	7	288	2e-105	PFAM
Pfam:NAD_binding_4	8	220	3.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,409,720	T403A	probably damaging	Het
Acat3	T	A	17: 12,928,606	R175*	probably null	Het
Adam1b	C	A	5: 121,501,041	C647F	probably damaging	Het
Adam28	T	C	14: 68,639,210	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,689,261		probably null	Het
Adcy5	A	T	16: 35,248,940	N426I	probably damaging	Het
Adgre1	T	C	17: 57,441,299	S500P	probably benign	Het
Aloxe3	A	G	11: 69,130,085	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,727,108	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,849,326	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,361,782	A757S	possibly damaging	Het
Begain	G	A	12: 109,035,323		probably benign	Het
Ccdc141	T	C	2: 77,011,665	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,854,109		probably benign	Het
Ccnk	A	G	12: 108,195,074	T195A	probably damaging	Het
Cd55b	C	A	1: 130,414,105	C265F	probably damaging	Het
Celsr3	A	G	9: 108,829,906	H1196R	probably benign	Het
Cenpt	T	C	8: 105,849,014	S190G	possibly damaging	Het
Chd8	T	C	14: 52,204,883	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833	H2296Y	probably benign	Het
Cxxc4	C	A	3: 134,240,653	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,496,741	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,381,301	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,713,526	I47V	probably benign	Het
Ddx5	A	T	11: 106,784,897	D322E	probably benign	Het
Dhx40	A	G	11: 86,789,297	C405R	possibly damaging	Het
Emc1	T	C	4: 139,360,485	F100S	probably damaging	Het
Exoc2	T	C	13: 30,906,497		probably benign	Het
Gm10110	A	T	14: 89,897,836		noncoding transcript	Het
Gm17332	T	C	11: 31,182,386	H26R	possibly damaging	Het
Gna12	T	C	5: 140,762,612	N183S	probably benign	Het
Gpx6	A	G	13: 21,312,327	N24D	probably benign	Het
Gsdma3	C	T	11: 98,629,858	A105V	probably benign	Het
Ifi213	T	C	1: 173,589,600	I415M	probably damaging	Het
Ints9	C	A	14: 65,016,530	P278T	probably damaging	Het
Krt79	C	T	15: 101,937,938	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,683,134	N132S	probably benign	Het
Ltn1	T	A	16: 87,416,264	K470*	probably null	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Mcm9	A	G	10: 53,541,553	M18T	probably damaging	Het
Med12l	A	G	3: 59,068,319	T212A	probably benign	Het
Mfhas1	T	C	8: 35,590,858	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,279,487	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myh7	T	C	14: 54,973,180	N1725S	possibly damaging	Het
Nat6	G	A	9: 107,583,017	R37H	possibly damaging	Het
Nme4	A	T	17: 26,092,097	W165R	probably damaging	Het
Nup205	T	A	6: 35,219,714	D1128E	probably benign	Het
Olfr291	T	C	7: 84,856,548	Y60H	probably damaging	Het
Olfr330	A	T	11: 58,529,373	Y204*	probably null	Het
Pcdh1	T	C	18: 38,199,485	D155G	possibly damaging	Het
Pex12	A	T	11: 83,297,822	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,078,957		probably benign	Het
Plekhh3	A	G	11: 101,163,600		probably benign	Het
Pnpt1	T	C	11: 29,154,342	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,837,981	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rgs14	T	C	13: 55,382,838		probably benign	Het
Rhbdf2	A	T	11: 116,600,191	V645E	possibly damaging	Het
Robo3	A	G	9: 37,422,327	V696A	probably benign	Het
Sall1	A	G	8: 89,028,716	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,429,012	E109G	probably benign	Het
Serpind1	G	T	16: 17,342,992	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,789,179		probably benign	Het
Sstr4	C	A	2: 148,395,533	N21K	probably benign	Het
Tap1	C	T	17: 34,188,109	A77V	possibly damaging	Het
Thap4	T	C	1: 93,750,287	E259G	probably benign	Het
Thra	A	G	11: 98,756,143	N30S	probably benign	Het
Tmem207	A	T	16: 26,524,821	V27E	possibly damaging	Het
Top3a	A	G	11: 60,753,888	V305A	probably damaging	Het
Trim59	A	T	3: 69,037,638	I123K	probably damaging	Het
Ttn	T	C	2: 76,861,495		probably benign	Het
Ubac1	T	A	2: 26,007,738	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308		probably benign	Het
Uri1	A	T	7: 37,967,389	D206E	probably benign	Het
Utp4	A	G	8: 106,913,454	H465R	probably benign	Het
Uvssa	T	C	5: 33,389,752	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,805,233		probably null	Het
Vps39	A	T	2: 120,325,397	L514H	probably damaging	Het
Vps72	G	A	3: 95,119,218	R158Q	possibly damaging	Het
Wdr59	T	C	8: 111,485,340	D366G	probably benign	Het
Zfp366	C	A	13: 99,228,492	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly damaging	Het

Other mutations in Hsd3b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Hsd3b5	APN	3	98630057	missense	probably benign	0.05
IGL00827:Hsd3b5	APN	3	98630098	missense	probably benign	0.00
IGL01530:Hsd3b5	APN	3	98619123	missense	probably damaging	1.00
IGL01930:Hsd3b5	APN	3	98622159	missense	probably benign	0.01
IGL02363:Hsd3b5	APN	3	98630105	missense	probably benign	0.08
IGL02396:Hsd3b5	APN	3	98622027	missense	probably benign	0.05
IGL02448:Hsd3b5	APN	3	98622131	missense	probably damaging	1.00
R0045:Hsd3b5	UTSW	3	98619144	missense	probably benign
R0624:Hsd3b5	UTSW	3	98619404	missense	probably damaging	0.98
R0745:Hsd3b5	UTSW	3	98619539	missense	probably benign	0.12
R0848:Hsd3b5	UTSW	3	98619355	missense	probably damaging	1.00
R1112:Hsd3b5	UTSW	3	98630077	missense	probably benign	0.00
R1454:Hsd3b5	UTSW	3	98619530	missense	probably benign	0.01
R1631:Hsd3b5	UTSW	3	98622077	missense	probably damaging	1.00
R1657:Hsd3b5	UTSW	3	98619720	missense	possibly damaging	0.89
R2930:Hsd3b5	UTSW	3	98619212	missense	probably benign	0.03
R2982:Hsd3b5	UTSW	3	98619800	missense	possibly damaging	0.88
R3158:Hsd3b5	UTSW	3	98622059	missense	probably benign	0.00
R4573:Hsd3b5	UTSW	3	98619648	missense	probably benign	0.04
R4941:Hsd3b5	UTSW	3	98619063	missense	probably damaging	1.00
R5104:Hsd3b5	UTSW	3	98619276	missense	probably damaging	1.00
R5416:Hsd3b5	UTSW	3	98619150	missense	probably damaging	1.00
R6311:Hsd3b5	UTSW	3	98630090	missense	possibly damaging	0.79
R6861:Hsd3b5	UTSW	3	98622012	missense	probably damaging	1.00
R7307:Hsd3b5	UTSW	3	98619769	missense	probably damaging	0.97
R7339:Hsd3b5	UTSW	3	98622074	missense	probably damaging	1.00
R7615:Hsd3b5	UTSW	3	98630104	missense	probably damaging	0.99
R7673:Hsd3b5	UTSW	3	98619441	missense	probably damaging	1.00
R7883:Hsd3b5	UTSW	3	98622140	missense	probably benign	0.00
R8398:Hsd3b5	UTSW	3	98619404	missense	possibly damaging	0.85
R9218:Hsd3b5	UTSW	3	98619038	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTGGCATTCTTCCCCATAGATG -3'
(R):5'- TGGGAATGCATTTAGCCTGTAG -3'

Sequencing Primer
(F):5'- TCTTCCCCATAGATGAAAGGGAGTC -3'
(R):5'- CTGTAGTGGCCCTTTCACGG -3'

Posted On

2014-06-23