Mutagenetix > Incidental Mutation

Incidental Mutation 'R5416:Hsd3b5'

427714

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

042985-MU

Accession Numbers

Essential gene?

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

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98525950-98537568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98526466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 327 (F327L)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

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

AlphaFold

Q61694

Predicted Effect

probably damaging
Transcript: ENSMUST00000044094
AA Change: F327L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: F327L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,871,331 (GRCm39)	E689D	probably damaging	Het
Acsl6	A	G	11: 54,227,997 (GRCm39)	E339G	probably benign	Het
Adcy3	G	A	12: 4,259,308 (GRCm39)	E861K	probably damaging	Het
Adrm1	C	T	2: 179,817,930 (GRCm39)	T394I	probably benign	Het
Adsl	T	A	15: 80,836,384 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,551 (GRCm39)	C1854S	probably damaging	Het
C87436	A	G	6: 86,442,832 (GRCm39)	Y458C	probably damaging	Het
Cacna1e	T	C	1: 154,341,525 (GRCm39)	D1161G	probably damaging	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccr1	G	T	9: 123,764,413 (GRCm39)	P39H	probably damaging	Het
Cdh18	A	G	15: 23,226,809 (GRCm39)	Y90C	probably damaging	Het
Chadl	T	C	15: 81,578,100 (GRCm39)	R510G	probably benign	Het
Clcnkb	T	C	4: 141,141,211 (GRCm39)	T115A	probably benign	Het
Clptm1	C	A	7: 19,367,741 (GRCm39)		probably benign	Het
Col24a1	A	T	3: 145,020,786 (GRCm39)	R386*	probably null	Het
Ctsj	G	T	13: 61,152,337 (GRCm39)	L10M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx40	T	C	11: 86,688,517 (GRCm39)	D302G	probably benign	Het
Edrf1	T	C	7: 133,243,131 (GRCm39)	F166L	possibly damaging	Het
Epha1	A	T	6: 42,342,805 (GRCm39)	M248K	probably damaging	Het
Evpl	C	A	11: 116,125,085 (GRCm39)	V126L	probably benign	Het
Fam83d	T	C	2: 158,627,552 (GRCm39)	C414R	possibly damaging	Het
Fat2	T	C	11: 55,194,514 (GRCm39)	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,646,113 (GRCm39)	T283I	probably benign	Het
Fuca1	A	G	4: 135,650,291 (GRCm39)	T121A	probably damaging	Het
Gm13941	A	T	2: 110,925,079 (GRCm39)	S175T	unknown	Het
Gpr107	T	A	2: 31,075,560 (GRCm39)	I357N	probably damaging	Het
Gpr161	T	A	1: 165,149,030 (GRCm39)	H466Q	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Itgb7	A	T	15: 102,125,744 (GRCm39)	D628E	probably benign	Het
Nwd1	A	G	8: 73,393,322 (GRCm39)	D236G	possibly damaging	Het
Or56b2j	C	T	7: 104,352,923 (GRCm39)	L50F	probably benign	Het
Or6d14	A	T	6: 116,534,166 (GRCm39)	Y260F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,490,008 (GRCm39)	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,182,107 (GRCm39)	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,673,416 (GRCm39)	T1018I	probably damaging	Het
Ppp6r1	A	T	7: 4,642,747 (GRCm39)	D532E	possibly damaging	Het
Prkdc	T	C	16: 15,623,814 (GRCm39)	L3259P	probably damaging	Het
Prkg2	A	T	5: 99,091,326 (GRCm39)	D641E	probably benign	Het
Psg26	T	C	7: 18,216,525 (GRCm39)	T105A	probably benign	Het
Ptprs	T	C	17: 56,742,724 (GRCm39)	T473A	probably damaging	Het
Pwp2	G	T	10: 78,018,835 (GRCm39)	N57K	probably damaging	Het
Rnf216	G	T	5: 143,001,526 (GRCm39)	C733*	probably null	Het
Serpina1f	T	A	12: 103,660,203 (GRCm39)	K26N	possibly damaging	Het
Sez6l2	T	A	7: 126,561,058 (GRCm39)	C448S	probably damaging	Het
Slc28a3	A	T	13: 58,724,607 (GRCm39)	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,365,433 (GRCm39)	S117P	probably benign	Het
Sorl1	A	T	9: 41,913,932 (GRCm39)	C1332*	probably null	Het
Specc1	T	C	11: 62,009,735 (GRCm39)	V497A	probably benign	Het
Tmem204	T	C	17: 25,277,300 (GRCm39)	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,037,849 (GRCm39)		probably null	Het
Ttll5	G	A	12: 86,059,602 (GRCm39)	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,852,476 (GRCm39)	T681I	probably damaging	Het
Ubqln3	C	T	7: 103,790,879 (GRCm39)	V404I	probably benign	Het
Yeats2	T	C	16: 20,030,319 (GRCm39)	S919P	probably benign	Het
Zfp575	C	T	7: 24,286,147 (GRCm39)	G3D	probably benign	Het
Zfp644	C	T	5: 106,766,294 (GRCm39)		silent	Het

Other mutations in Hsd3b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Hsd3b5	APN	3	98,537,373 (GRCm39)	missense	probably benign	0.05
IGL00827:Hsd3b5	APN	3	98,537,414 (GRCm39)	missense	probably benign	0.00
IGL01530:Hsd3b5	APN	3	98,526,439 (GRCm39)	missense	probably damaging	1.00
IGL01930:Hsd3b5	APN	3	98,529,475 (GRCm39)	missense	probably benign	0.01
IGL02363:Hsd3b5	APN	3	98,537,421 (GRCm39)	missense	probably benign	0.08
IGL02396:Hsd3b5	APN	3	98,529,343 (GRCm39)	missense	probably benign	0.05
IGL02448:Hsd3b5	APN	3	98,529,447 (GRCm39)	missense	probably damaging	1.00
R0045:Hsd3b5	UTSW	3	98,526,460 (GRCm39)	missense	probably benign
R0624:Hsd3b5	UTSW	3	98,526,720 (GRCm39)	missense	probably damaging	0.98
R0745:Hsd3b5	UTSW	3	98,526,855 (GRCm39)	missense	probably benign	0.12
R0848:Hsd3b5	UTSW	3	98,526,671 (GRCm39)	missense	probably damaging	1.00
R1112:Hsd3b5	UTSW	3	98,537,393 (GRCm39)	missense	probably benign	0.00
R1454:Hsd3b5	UTSW	3	98,526,846 (GRCm39)	missense	probably benign	0.01
R1631:Hsd3b5	UTSW	3	98,529,393 (GRCm39)	missense	probably damaging	1.00
R1657:Hsd3b5	UTSW	3	98,527,036 (GRCm39)	missense	possibly damaging	0.89
R1839:Hsd3b5	UTSW	3	98,527,044 (GRCm39)	missense	probably benign	0.30
R2930:Hsd3b5	UTSW	3	98,526,528 (GRCm39)	missense	probably benign	0.03
R2982:Hsd3b5	UTSW	3	98,527,116 (GRCm39)	missense	possibly damaging	0.88
R3158:Hsd3b5	UTSW	3	98,529,375 (GRCm39)	missense	probably benign	0.00
R4573:Hsd3b5	UTSW	3	98,526,964 (GRCm39)	missense	probably benign	0.04
R4941:Hsd3b5	UTSW	3	98,526,379 (GRCm39)	missense	probably damaging	1.00
R5104:Hsd3b5	UTSW	3	98,526,592 (GRCm39)	missense	probably damaging	1.00
R6311:Hsd3b5	UTSW	3	98,537,406 (GRCm39)	missense	possibly damaging	0.79
R6861:Hsd3b5	UTSW	3	98,529,328 (GRCm39)	missense	probably damaging	1.00
R7307:Hsd3b5	UTSW	3	98,527,085 (GRCm39)	missense	probably damaging	0.97
R7339:Hsd3b5	UTSW	3	98,529,390 (GRCm39)	missense	probably damaging	1.00
R7615:Hsd3b5	UTSW	3	98,537,420 (GRCm39)	missense	probably damaging	0.99
R7673:Hsd3b5	UTSW	3	98,526,757 (GRCm39)	missense	probably damaging	1.00
R7883:Hsd3b5	UTSW	3	98,529,456 (GRCm39)	missense	probably benign	0.00
R8398:Hsd3b5	UTSW	3	98,526,720 (GRCm39)	missense	possibly damaging	0.85
R9218:Hsd3b5	UTSW	3	98,526,354 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATAACACCCAGGGCCATGTC -3'
(R):5'- GCATCCAAGGACAGTTCTATTACATC -3'

Sequencing Primer
(F):5'- CAGGGCCATGTCCTCGC -3'
(R):5'- TGATTTAAATTACACCCTGAGCAAGG -3'

Posted On

2016-09-01