Mutagenetix > Incidental Mutation

Incidental Mutation 'R9675:Hsd17b13'

728296

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b13

Ensembl Gene

ENSMUSG00000034528

Gene Name

hydroxysteroid (17-beta) dehydrogenase 13

Synonyms

Pan1b

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9675 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104103308-104125254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104111709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 278 (L278S)

Ref Sequence

ENSEMBL: ENSMUSP00000108422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048118] [ENSMUST00000112803] [ENSMUST00000120320]

AlphaFold

Q8VCR2

Predicted Effect

probably benign
Transcript: ENSMUST00000048118

SMART Domains

Protein: ENSMUSP00000046772
Gene: ENSMUSG00000034528

Domain	Start	End	E-Value	Type
Pfam:KR	37	211	2e-12	PFAM
Pfam:adh_short	37	233	3.6e-48	PFAM
Pfam:adh_short_C2	43	217	5.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112803
AA Change: L278S

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108422
Gene: ENSMUSG00000034528
AA Change: L278S

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:adh_short	37	204	1.9e-29	PFAM
Pfam:KR	37	207	9.6e-14	PFAM
Pfam:adh_short_C2	43	218	7.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120320
AA Change: L242S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113599
Gene: ENSMUSG00000034528
AA Change: L242S

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:adh_short	66	168	3.3e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: No notable phenotype was detected in a high-throughput phenotype screen of homozygous mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,339,827 (GRCm39)	P62T	probably damaging	Het
Aadacl2fm3	C	T	3: 59,784,538 (GRCm39)	T337I	probably damaging	Het
Abtb2	T	C	2: 103,538,532 (GRCm39)	F654L	probably benign	Het
Acta2	A	T	19: 34,223,612 (GRCm39)	V161E		Het
Adamtsl1	A	C	4: 86,161,989 (GRCm39)	Y374S	probably damaging	Het
Apc	A	G	18: 34,449,247 (GRCm39)	K2048E	probably damaging	Het
Arhgef4	C	A	1: 34,845,108 (GRCm39)	D66E	probably benign	Het
Arsj	T	A	3: 126,231,765 (GRCm39)	H170Q	probably damaging	Het
Bmpr1b	T	C	3: 141,563,321 (GRCm39)	K208E	probably benign	Het
Brd4	A	T	17: 32,433,786 (GRCm39)	M459K	unknown	Het
Btnl10	T	A	11: 58,814,442 (GRCm39)	L374Q	probably damaging	Het
Cadm1	C	T	9: 47,441,752 (GRCm39)	R28W	probably damaging	Het
Cts7	A	T	13: 61,504,371 (GRCm39)	M64K	probably benign	Het
Dmbt1	T	C	7: 130,712,652 (GRCm39)	L1552P	probably damaging	Het
Dnaaf6rt	G	A	1: 31,262,644 (GRCm39)	V209I	probably benign	Het
Dock4	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	12: 40,894,379 (GRCm39)		probably benign	Het
Dock4	TGCCGG	TGCCGGAGCCGG	12: 40,894,393 (GRCm39)		probably benign	Het
Dusp4	G	A	8: 35,274,964 (GRCm39)	G28S	probably benign	Het
Fez2	A	G	17: 78,686,169 (GRCm39)	C373R	possibly damaging	Het
Fibin	T	C	2: 110,192,495 (GRCm39)	T216A	probably benign	Het
Gad1	G	A	2: 70,416,200 (GRCm39)	V220M	probably damaging	Het
Hyal5	G	T	6: 24,876,635 (GRCm39)	E169D	probably benign	Het
Ighv1-15	A	T	12: 114,620,981 (GRCm39)	C115S	probably damaging	Het
Msl2	T	C	9: 100,978,555 (GRCm39)	S310P	probably benign	Het
Mss51	A	G	14: 20,537,189 (GRCm39)	M93T	probably damaging	Het
Npas2	T	C	1: 39,364,446 (GRCm39)	F263L	probably damaging	Het
Ogfod2	T	C	5: 124,252,452 (GRCm39)	V177A	probably damaging	Het
Or1s2	T	G	19: 13,758,639 (GRCm39)	V219G	possibly damaging	Het
Or9a4	A	G	6: 40,548,559 (GRCm39)	M80V	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pkd2l1	G	T	19: 44,137,696 (GRCm39)	Q713K	probably benign	Het
Rasgrp1	T	A	2: 117,173,190 (GRCm39)	M1L	probably benign	Het
Rnf167	T	A	11: 70,541,032 (GRCm39)	H219Q	possibly damaging	Het
Spatc1	T	A	15: 76,152,520 (GRCm39)	I50N	probably damaging	Het
Tcf20	T	C	15: 82,740,986 (GRCm39)	Y155C	probably damaging	Het
Tfpt	T	A	7: 3,623,981 (GRCm39)	D142V	probably damaging	Het
Trp53bp1	A	G	2: 121,087,089 (GRCm39)	V189A	probably benign	Het
Ttbk2	T	G	2: 120,637,241 (GRCm39)	Q141H	probably benign	Het
Zbtb21	A	G	16: 97,752,945 (GRCm39)	V474A	probably damaging	Het

Other mutations in Hsd17b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03374:Hsd17b13	APN	5	104,124,964 (GRCm39)	splice site	probably benign
R1876:Hsd17b13	UTSW	5	104,116,633 (GRCm39)	missense	probably damaging	1.00
R4090:Hsd17b13	UTSW	5	104,113,720 (GRCm39)	missense	probably benign	0.07
R4604:Hsd17b13	UTSW	5	104,104,124 (GRCm39)	missense	unknown
R4653:Hsd17b13	UTSW	5	104,113,702 (GRCm39)	missense	probably damaging	1.00
R5899:Hsd17b13	UTSW	5	104,113,730 (GRCm39)	missense	probably benign	0.00
R7347:Hsd17b13	UTSW	5	104,116,616 (GRCm39)	missense	probably damaging	0.99
R7871:Hsd17b13	UTSW	5	104,113,681 (GRCm39)	missense	possibly damaging	0.60
R8288:Hsd17b13	UTSW	5	104,111,701 (GRCm39)	missense	probably benign	0.00
R8390:Hsd17b13	UTSW	5	104,120,512 (GRCm39)	missense	probably damaging	1.00
R8483:Hsd17b13	UTSW	5	104,125,049 (GRCm39)	missense	probably damaging	1.00
R8766:Hsd17b13	UTSW	5	104,125,009 (GRCm39)	missense	probably benign	0.06
R8857:Hsd17b13	UTSW	5	104,125,063 (GRCm39)	missense	probably damaging	1.00
R9313:Hsd17b13	UTSW	5	104,113,639 (GRCm39)	critical splice donor site	probably null
R9369:Hsd17b13	UTSW	5	104,125,034 (GRCm39)	missense	probably damaging	1.00
R9646:Hsd17b13	UTSW	5	104,124,973 (GRCm39)	missense	probably null	0.58
Z1176:Hsd17b13	UTSW	5	104,116,571 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- ATGCACTCGATGGCTGCTAG -3'
(R):5'- GTCATCCAATTTTGCTGTTCTGAG -3'

Sequencing Primer
(F):5'- GCTAGGGTCAAGCCTACATTTTAAAC -3'
(R):5'- ATATAGATAACTGTAGATGGGGTGG -3'

Posted On

2022-10-06