Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Hsd17b14'

456446

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b14

Ensembl Gene

ENSMUSG00000030825

Gene Name

hydroxysteroid (17-beta) dehydrogenase 14

Synonyms

0610039E24Rik, retSDR3, Dhrs10

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5903 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

45204345-45216745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45215386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 161 (V161A)

Ref Sequence

ENSEMBL: ENSMUSP00000103381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033098] [ENSMUST00000107752] [ENSMUST00000120864] [ENSMUST00000210300]

AlphaFold

E9Q3D4

Predicted Effect

probably benign
Transcript: ENSMUST00000033098

SMART Domains

Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	101	351	5.4e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107752
AA Change: V161A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: V161A

Domain	Start	End	E-Value	Type
Pfam:KR	10	187	4.3e-12	PFAM
Pfam:adh_short	10	200	2.9e-53	PFAM
Pfam:Epimerase	12	184	4.2e-7	PFAM
Pfam:adh_short_C2	16	250	8.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115479
AA Change: V127A

Predicted Effect

probably benign
Transcript: ENSMUST00000120864

SMART Domains

Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	119	370	7.6e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147958
AA Change: V71A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209745

Predicted Effect

probably benign
Transcript: ENSMUST00000210300

Predicted Effect

probably benign
Transcript: ENSMUST00000210997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210866

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
PHENOTYPE: In a high-throughput phenotyping screen, male null mice exhibit infertility, decreased sperm production, testicular degeneration and an increased anxiety-like response to stress-induced hyperthermia. Homozygous null mice also show an increase in serum IgG2a in response to antigen challenge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,661 (GRCm39)	V150A	unknown	Het
Abraxas1	T	C	5: 100,965,824 (GRCm39)		probably null	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atg2b	T	C	12: 105,605,618 (GRCm39)	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,683,254 (GRCm39)	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,789,343 (GRCm39)	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760 (GRCm39)	D347G	probably damaging	Het
Baz2b	C	T	2: 59,790,233 (GRCm39)	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,896,801 (GRCm39)	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,002,837 (GRCm39)	Q745*	probably null	Het
Cep97	G	A	16: 55,739,889 (GRCm39)	S185L	probably damaging	Het
Clec4d	A	G	6: 123,244,020 (GRCm39)	H43R	probably damaging	Het
Cntn3	T	A	6: 102,219,094 (GRCm39)	M509L	probably benign	Het
Cntrob	A	C	11: 69,200,201 (GRCm39)	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,395,514 (GRCm39)	N37I	possibly damaging	Het
Edc4	A	G	8: 106,617,219 (GRCm39)	T1029A	probably benign	Het
Fhip2b	A	T	14: 70,829,121 (GRCm39)	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,062,270 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,870,783 (GRCm39)	M1K	probably null	Het
Gle1	C	A	2: 29,830,293 (GRCm39)	T283N	probably benign	Het
Hsf2	T	C	10: 57,380,819 (GRCm39)	S218P	probably benign	Het
Ipo7	T	A	7: 109,650,020 (GRCm39)	C736S	probably damaging	Het
Itpkb	G	T	1: 180,241,540 (GRCm39)	V737L	probably damaging	Het
Itpr1	T	C	6: 108,466,758 (GRCm39)		probably benign	Het
Kcnh8	G	T	17: 53,110,364 (GRCm39)	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,518,523 (GRCm39)		probably benign	Het
Kdm3a	C	A	6: 71,609,234 (GRCm39)		probably benign	Het
Kif5a	T	A	10: 127,066,447 (GRCm39)	M990L	probably benign	Het
Klf12	A	G	14: 100,260,124 (GRCm39)	S202P	probably damaging	Het
Krt81	T	G	15: 101,358,083 (GRCm39)	Q390P	probably damaging	Het
Lrig3	T	C	10: 125,844,347 (GRCm39)	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,235,612 (GRCm39)	V48D	probably damaging	Het
Mta1	C	T	12: 113,100,239 (GRCm39)	P688L	probably damaging	Het
Oas1h	T	C	5: 121,009,040 (GRCm39)	V250A	probably damaging	Het
Or10c1	A	T	17: 37,521,912 (GRCm39)	Y277*	probably null	Het
Or52z13	G	T	7: 103,247,128 (GRCm39)	G202*	probably null	Het
P2rx3	T	C	2: 84,831,071 (GRCm39)	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,333,718 (GRCm39)	I101T	possibly damaging	Het
Psme4	A	T	11: 30,791,589 (GRCm39)	N1148I	probably benign	Het
Rnf213	T	C	11: 119,312,195 (GRCm39)	L874P	probably damaging	Het
Sart3	T	C	5: 113,889,300 (GRCm39)	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,569,305 (GRCm39)		probably benign	Het
Slc9b1	C	T	3: 135,098,655 (GRCm39)		probably benign	Het
Stmn3	T	C	2: 180,950,573 (GRCm39)	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,301,389 (GRCm39)	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,386,242 (GRCm39)	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,113,993 (GRCm39)	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Unc5a	T	A	13: 55,147,503 (GRCm39)	C438S	possibly damaging	Het
Zan	C	A	5: 137,440,396 (GRCm39)	C1946F	unknown	Het

Other mutations in Hsd17b14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Hsd17b14	APN	7	45,216,137 (GRCm39)	missense	possibly damaging	0.72
IGL02504:Hsd17b14	APN	7	45,205,799 (GRCm39)	missense	possibly damaging	0.84
IGL03126:Hsd17b14	APN	7	45,205,503 (GRCm39)	missense	possibly damaging	0.83
IGL03279:Hsd17b14	APN	7	45,215,617 (GRCm39)	missense	possibly damaging	0.72
IGL03493:Hsd17b14	APN	7	45,205,515 (GRCm39)	missense	probably damaging	1.00
BB004:Hsd17b14	UTSW	7	45,215,395 (GRCm39)	missense	probably damaging	0.99
BB014:Hsd17b14	UTSW	7	45,215,395 (GRCm39)	missense	probably damaging	0.99
R0085:Hsd17b14	UTSW	7	45,205,834 (GRCm39)	unclassified	probably benign
R4128:Hsd17b14	UTSW	7	45,212,432 (GRCm39)	missense	probably damaging	1.00
R4513:Hsd17b14	UTSW	7	45,212,339 (GRCm39)	missense	probably benign	0.24
R6649:Hsd17b14	UTSW	7	45,205,500 (GRCm39)	missense	probably damaging	1.00
R6899:Hsd17b14	UTSW	7	45,212,352 (GRCm39)	missense	possibly damaging	0.90
R7541:Hsd17b14	UTSW	7	45,215,570 (GRCm39)	missense	probably damaging	1.00
R7829:Hsd17b14	UTSW	7	45,216,209 (GRCm39)	missense	probably benign	0.11
R7927:Hsd17b14	UTSW	7	45,215,395 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCATCATGTAGTCTTGAATTCTGGC -3'
(R):5'- TGCAAGCTCTTCCCACAGTG -3'

Sequencing Primer
(F):5'- TCTGGCAATCGGTAACAAACTG -3'
(R):5'- CCACAGTGGAGTCCAGATGTTTC -3'

Posted On

2017-02-15