Mutagenetix > Incidental Mutation

Incidental Mutation 'R6649:Hsd17b14'

527681

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b14

Ensembl Gene

ENSMUSG00000030825

Gene Name

hydroxysteroid (17-beta) dehydrogenase 14

Synonyms

0610039E24Rik, retSDR3, Dhrs10

MMRRC Submission

044770-MU

Accession Numbers

Essential gene?

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

Stock #

R6649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45204345-45216745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45205500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 11 (V11A)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000107752] [ENSMUST00000209517] [ENSMUST00000210300] [ENSMUST00000211797] [ENSMUST00000211155]

AlphaFold

E9Q3D4

Predicted Effect

probably benign
Transcript: ENSMUST00000051810

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107752
AA Change: V37A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: V37A

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

probably benign
Transcript: ENSMUST00000209517

Predicted Effect

probably damaging
Transcript: ENSMUST00000210300
AA Change: V37A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210460

Predicted Effect

probably benign
Transcript: ENSMUST00000210797

Predicted Effect

probably damaging
Transcript: ENSMUST00000210997
AA Change: V11A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211106

Predicted Effect

probably benign
Transcript: ENSMUST00000211797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211029

Predicted Effect

probably benign
Transcript: ENSMUST00000211155

Predicted Effect

probably benign
Transcript: ENSMUST00000211348

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Abra	G	A	15: 41,732,629 (GRCm39)	L146F	probably benign	Het
Adamts7	T	C	9: 90,073,990 (GRCm39)	C857R	probably damaging	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
Asb16	A	T	11: 102,159,863 (GRCm39)	Q72L	possibly damaging	Het
Atosa	T	G	9: 74,917,432 (GRCm39)	L677R	probably damaging	Het
Bbox1	G	T	2: 110,135,914 (GRCm39)	H22N	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh18	A	T	15: 23,436,620 (GRCm39)	Y492F	possibly damaging	Het
Cep290	A	C	10: 100,354,393 (GRCm39)	D848A	probably benign	Het
Cip2a	A	T	16: 48,837,829 (GRCm39)	Q843L	probably damaging	Het
Cmya5	G	C	13: 93,234,533 (GRCm39)	S185C	possibly damaging	Het
Cops9	C	T	1: 92,568,136 (GRCm39)		probably benign	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fat3	T	C	9: 16,288,038 (GRCm39)	D495G	probably damaging	Het
Fsip2	T	C	2: 82,798,161 (GRCm39)	V485A	possibly damaging	Het
Gm14496	A	T	2: 181,639,269 (GRCm39)	H453L	possibly damaging	Het
Gm17027	T	C	14: 41,981,236 (GRCm39)	T207A	unknown	Het
Gm6902	T	G	7: 22,973,159 (GRCm39)	T123P	possibly damaging	Het
Gpat2	T	G	2: 127,274,355 (GRCm39)	W366G	possibly damaging	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kmt5b	G	A	19: 3,857,295 (GRCm39)	G351R	probably damaging	Het
Mau2	G	T	8: 70,484,166 (GRCm39)	Q141K	possibly damaging	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Mfsd13a	A	G	19: 46,360,704 (GRCm39)	H394R	probably benign	Het
Mfsd14b	A	T	13: 65,214,599 (GRCm39)	I451N	probably damaging	Het
Milr1	C	T	11: 106,648,537 (GRCm39)	H143Y	probably benign	Het
Mon2	T	G	10: 122,874,385 (GRCm39)	K321T	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Nwd2	A	G	5: 63,882,527 (GRCm39)	R60G	possibly damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or52b2	T	C	7: 104,986,914 (GRCm39)	H3R	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Papola	A	T	12: 105,778,566 (GRCm39)	I315L	possibly damaging	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phyhipl	A	G	10: 70,404,843 (GRCm39)	F77L	probably damaging	Het
Ppp3cb	A	G	14: 20,581,094 (GRCm39)	L110P	probably damaging	Het
Prss53	T	G	7: 127,485,747 (GRCm39)	E531A	probably benign	Het
Raf1	A	T	6: 115,608,302 (GRCm39)	H236Q	probably benign	Het
Ryr2	A	G	13: 11,610,529 (GRCm39)	V4099A	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Sh3pxd2b	T	C	11: 32,365,978 (GRCm39)		probably null	Het
Slco6c1	C	T	1: 97,053,436 (GRCm39)	S155N	probably benign	Het
Speer4f2	A	G	5: 17,580,767 (GRCm39)	T115A	probably benign	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	Het
Zfp938	A	T	10: 82,061,232 (GRCm39)	Y463N	probably damaging	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
R5903:Hsd17b14	UTSW	7	45,215,386 (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'- GGGCCAACAGCAGCTTAATG -3'
(R):5'- CTGCAGGAGAAAGATTTTGGGTC -3'

Sequencing Primer
(F):5'- GCCAACAGCAGCTTAATGAAAAAG -3'
(R):5'- CTTGGACACCAGAGTCTGAG -3'

Posted On

2018-07-23