Mutagenetix > Incidental Mutation

Incidental Mutation 'R9369:Hsd17b13'

709193

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 #

R9369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104103308-104125254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104125034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 50 (R50W)

Ref Sequence

ENSEMBL: ENSMUSP00000046772 (fasta)

Gene Model

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

AlphaFold

Q8VCR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048118
AA Change: R50W

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

SMART Domains

Protein: ENSMUSP00000046772
Gene: ENSMUSG00000034528
AA Change: R50W

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 damaging
Transcript: ENSMUST00000112803
AA Change: R50W

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

SMART Domains

Protein: ENSMUSP00000108422
Gene: ENSMUSG00000034528
AA Change: R50W

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 damaging
Transcript: ENSMUST00000120320
AA Change: R50W

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

SMART Domains

Protein: ENSMUSP00000113599
Gene: ENSMUSG00000034528
AA Change: R50W

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: 100.0%
10x: 99.8%
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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
9330159F19Rik	T	A	10: 29,100,974 (GRCm39)	V449D	probably damaging	Het
Abca13	G	T	11: 9,328,444 (GRCm39)	V3506L	probably damaging	Het
Accs	G	A	2: 93,666,093 (GRCm39)	Q498*	probably null	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
C2cd2	T	C	16: 97,723,333 (GRCm39)	I61M	possibly damaging	Het
Cd22	T	C	7: 30,576,999 (GRCm39)	T103A	probably benign	Het
Cd55	A	T	1: 130,375,187 (GRCm39)	L150*	probably null	Het
Ces3b	A	G	8: 105,813,502 (GRCm39)	S258G	probably damaging	Het
Cln6	A	G	9: 62,754,431 (GRCm39)	T158A	probably damaging	Het
Dnah7a	T	C	1: 53,543,421 (GRCm39)	K2250E	probably benign	Het
Dnah7a	T	A	1: 53,564,222 (GRCm39)	N1946Y	possibly damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Eps15	T	A	4: 109,240,034 (GRCm39)	D492E	probably damaging	Het
Ern1	A	T	11: 106,305,259 (GRCm39)	M377K	probably benign	Het
Esrrb	A	G	12: 86,517,102 (GRCm39)	D78G	probably damaging	Het
Fat2	A	T	11: 55,201,514 (GRCm39)	M520K	possibly damaging	Het
Foxb1	A	G	9: 69,666,930 (GRCm39)	L200P	probably damaging	Het
Gli2	G	T	1: 118,765,885 (GRCm39)	N755K	probably benign	Het
Gnal	A	G	18: 67,324,439 (GRCm39)		probably null	Het
Gxylt1	A	T	15: 93,172,896 (GRCm39)	F23I	possibly damaging	Het
Htr5b	G	C	1: 121,455,482 (GRCm39)	A146G	possibly damaging	Het
Ifi206	A	G	1: 173,301,489 (GRCm39)	F730L	unknown	Het
Ifrd2	C	T	9: 107,467,802 (GRCm39)	Q163*	probably null	Het
Ift88	A	T	14: 57,685,137 (GRCm39)	I318F	probably benign	Het
Ighv5-12	T	A	12: 113,665,985 (GRCm39)	K38*	probably null	Het
Il17rc	T	C	6: 113,449,641 (GRCm39)	S112P	probably benign	Het
Itgb7	T	C	15: 102,131,821 (GRCm39)	N254S	probably damaging	Het
Jak2	T	A	19: 29,266,203 (GRCm39)		probably null	Het
Jmjd8	A	T	17: 26,048,686 (GRCm39)	H100L	unknown	Het
Kcnh4	T	C	11: 100,648,428 (GRCm39)	E92G	probably damaging	Het
Kif13a	T	C	13: 46,940,099 (GRCm39)	I989V	probably damaging	Het
Kif5b	A	T	18: 6,223,584 (GRCm39)	N308K	probably damaging	Het
Loxl3	A	T	6: 83,027,393 (GRCm39)	T683S	probably benign	Het
Macf1	C	T	4: 123,349,150 (GRCm39)		probably null	Het
Met	A	G	6: 17,492,228 (GRCm39)	K330R	probably benign	Het
Mideas	A	G	12: 84,219,670 (GRCm39)	V428A	probably benign	Het
Mybl1	T	C	1: 9,742,829 (GRCm39)	E593G	probably damaging	Het
N4bp2	T	G	5: 65,964,259 (GRCm39)	D769E	probably damaging	Het
Or10ak13	T	A	4: 118,639,077 (GRCm39)	Q235L	probably benign	Het
Or10j3b	A	G	1: 173,043,451 (GRCm39)	I78V	possibly damaging	Het
Or52ae7	A	G	7: 103,119,555 (GRCm39)	Y103C	probably benign	Het
Otoa	C	T	7: 120,744,840 (GRCm39)	A866V	probably benign	Het
Pak4	A	G	7: 28,260,240 (GRCm39)	L492P	probably damaging	Het
Pctp	A	T	11: 89,876,938 (GRCm39)	L187H	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf8-ps	T	G	17: 33,285,579 (GRCm39)	T408P	probably damaging	Het
Pik3ap1	T	G	19: 41,317,743 (GRCm39)	D204A	probably damaging	Het
Pitrm1	T	C	13: 6,603,280 (GRCm39)	V110A	probably benign	Het
Prokr1	A	T	6: 87,558,407 (GRCm39)	V326E	possibly damaging	Het
Prrt2	T	C	7: 126,619,343 (GRCm39)	I41V	probably benign	Het
Psmb1	A	G	17: 15,710,478 (GRCm39)	Y24H	probably damaging	Het
Ptpdc1	C	T	13: 48,736,722 (GRCm39)	A683T	possibly damaging	Het
Ptprb	A	G	10: 116,151,057 (GRCm39)	K240E	probably benign	Het
Ranbp2	T	C	10: 58,316,486 (GRCm39)	V2402A	probably benign	Het
Rictor	T	C	15: 6,773,848 (GRCm39)	F79L	probably benign	Het
Ripk2	A	C	4: 16,127,651 (GRCm39)	S364A	probably benign	Het
S100a4	A	T	3: 90,512,394 (GRCm39)	K26*	probably null	Het
Shank1	A	G	7: 44,001,478 (GRCm39)	T1066A	unknown	Het
Slc9b2	A	G	3: 135,036,446 (GRCm39)	T417A	probably benign	Het
Slf2	C	T	19: 44,923,953 (GRCm39)	Q256*	probably null	Het
Smad5	T	C	13: 56,885,242 (GRCm39)	V450A	possibly damaging	Het
Smok3c	A	C	5: 138,063,770 (GRCm39)	D419A	probably damaging	Het
Tdpoz4	A	T	3: 93,703,741 (GRCm39)	T13S	probably damaging	Het
Tdrd6	A	T	17: 43,936,217 (GRCm39)	N1610K	probably damaging	Het
Tex19.2	A	G	11: 121,007,566 (GRCm39)	L294P	possibly damaging	Het
Tex44	T	C	1: 86,355,383 (GRCm39)	W431R	probably damaging	Het
Tmcc1	A	T	6: 116,111,050 (GRCm39)	V77E	probably benign	Het
Tmed4	A	T	11: 6,224,133 (GRCm39)	M121K	possibly damaging	Het
Trit1	T	C	4: 122,945,898 (GRCm39)	V349A	possibly damaging	Het
Txndc15	C	T	13: 55,869,507 (GRCm39)	A220V	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ufd1	T	C	16: 18,634,113 (GRCm39)		probably null	Het
Umps	T	C	16: 33,777,206 (GRCm39)	N458S	probably benign	Het
Vmn2r24	A	C	6: 123,792,357 (GRCm39)	Q561H	probably damaging	Het
Vwce	T	G	19: 10,624,061 (GRCm39)	S317R	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp977	A	T	7: 42,229,518 (GRCm39)	F336I	probably damaging	Het
Zranb3	A	T	1: 127,887,828 (GRCm39)	D866E	probably benign	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
R9646:Hsd17b13	UTSW	5	104,124,973 (GRCm39)	missense	probably null	0.58
R9675:Hsd17b13	UTSW	5	104,111,709 (GRCm39)	missense	probably benign	0.10
Z1176:Hsd17b13	UTSW	5	104,116,571 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TGTCGCAGGGATCCAGAAAG -3'
(R):5'- TAATACCTGACAGGGCTCTCTG -3'

Sequencing Primer
(F):5'- AAAGGACCCAGGAGTTTATTAAAAC -3'
(R):5'- CTCTCTGTGGAGCTCTGAGC -3'

Posted On

2022-04-18