Mutagenetix > Incidental Mutation

Incidental Mutation 'R5899:Hsd17b13'

457723

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b13

Ensembl Gene

ENSMUSG00000034528

Gene Name

hydroxysteroid (17-beta) dehydrogenase 13

Synonyms

Pan1b

MMRRC Submission

044098-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104103308-104125254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104113730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 205 (E205D)

Ref Sequence

ENSEMBL: ENSMUSP00000113599 (fasta)

Gene Model

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

AlphaFold

Q8VCR2

Predicted Effect

probably benign
Transcript: ENSMUST00000048118
AA Change: E241D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046772
Gene: ENSMUSG00000034528
AA Change: E241D

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: E241D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108422
Gene: ENSMUSG00000034528
AA Change: E241D

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: E205D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113599
Gene: ENSMUSG00000034528
AA Change: E205D

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

Meta Mutation Damage Score

0.0927

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

93% (56/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	C	10: 20,876,465 (GRCm39)	I792T	probably benign	Het
Anks1b	T	A	10: 90,759,379 (GRCm39)		probably null	Het
Ano3	T	G	2: 110,693,232 (GRCm39)	D122A	probably benign	Het
Atp12a	T	C	14: 56,610,801 (GRCm39)	V315A	probably benign	Het
B230104I21Rik	G	T	4: 154,433,986 (GRCm39)	G57*	probably null	Het
Bpifb2	A	G	2: 153,733,050 (GRCm39)	K378E	probably damaging	Het
Cdk5rap2	T	C	4: 70,161,830 (GRCm39)		probably benign	Het
Ceacam23	A	G	7: 17,651,369 (GRCm39)	D840G	possibly damaging	Het
Cflar	A	G	1: 58,791,927 (GRCm39)	D410G	probably benign	Het
Clcn6	A	G	4: 148,102,049 (GRCm39)	V345A	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Ddx50	T	A	10: 62,476,596 (GRCm39)	K226*	probably null	Het
Dnah5	T	C	15: 28,448,513 (GRCm39)	V4192A	possibly damaging	Het
Dnah8	G	A	17: 30,875,659 (GRCm39)	D494N	probably benign	Het
Dock7	A	T	4: 98,879,660 (GRCm39)	C965S	probably benign	Het
Dst	C	T	1: 34,334,370 (GRCm39)	A5083V	probably damaging	Het
E130208F15Rik	T	C	7: 30,021,726 (GRCm39)	Q10R	probably damaging	Het
Fbxw15	T	C	9: 109,384,741 (GRCm39)		probably null	Het
Fxr2	A	G	11: 69,543,511 (GRCm39)	N671D	probably damaging	Het
Gbp7	A	G	3: 142,252,303 (GRCm39)	T629A	probably benign	Het
Grm1	T	C	10: 10,565,092 (GRCm39)	Y1072C	probably benign	Het
Hmcn2	A	T	2: 31,244,685 (GRCm39)	E714V	possibly damaging	Het
Igf2bp3	A	G	6: 49,094,084 (GRCm39)		probably benign	Het
Il2ra	A	G	2: 11,689,248 (GRCm39)	H259R	probably benign	Het
Klk15	G	T	7: 43,588,247 (GRCm39)	R185L	probably benign	Het
Map3k11	T	G	19: 5,745,937 (GRCm39)		probably null	Het
Morn3	A	G	5: 123,179,166 (GRCm39)	W95R	probably damaging	Het
Nipbl	A	G	15: 8,364,328 (GRCm39)		probably null	Het
Nrap	A	T	19: 56,329,006 (GRCm39)	V1145D	possibly damaging	Het
Or1e35	A	G	11: 73,797,755 (GRCm39)	S188P	probably damaging	Het
Or2l13b	C	T	16: 19,349,551 (GRCm39)	G40R	probably damaging	Het
Or9k2	T	A	10: 129,998,542 (GRCm39)	I218F	probably benign	Het
Pdcd11	A	G	19: 47,093,198 (GRCm39)	N492S	possibly damaging	Het
Ptgfr	C	T	3: 151,540,738 (GRCm39)	V257I	probably damaging	Het
Racgap1	T	C	15: 99,521,509 (GRCm39)	E549G	possibly damaging	Het
Rfx3	T	C	19: 27,808,165 (GRCm39)	T193A	probably damaging	Het
Rplp0	T	A	5: 115,699,489 (GRCm39)	I149N	probably benign	Het
Samd7	T	G	3: 30,810,883 (GRCm39)	I300S	probably benign	Het
Scpep1	A	G	11: 88,825,402 (GRCm39)		probably null	Het
Senp6	T	C	9: 80,049,352 (GRCm39)		probably benign	Het
Serpinb2	G	T	1: 107,447,446 (GRCm39)	G78V	probably damaging	Het
Sesn1	T	C	10: 41,687,189 (GRCm39)	S58P	probably benign	Het
Skic3	A	G	13: 76,259,938 (GRCm39)		probably null	Het
Spg11	T	C	2: 121,928,680 (GRCm39)	D591G	possibly damaging	Het
Spire2	A	C	8: 124,080,833 (GRCm39)	S26R	probably damaging	Het
Strip2	T	A	6: 29,956,957 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,697,519 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,460,924 (GRCm39)	Y750C	probably damaging	Het
Wnt11	T	A	7: 98,488,383 (GRCm39)	Y23*	probably null	Het
Zbp1	T	A	2: 173,052,340 (GRCm39)	D272V	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
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
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'- ACTTTCACTGCAGCCATGGG -3'
(R):5'- GGGAAGCCTGGAACATTGTAAATC -3'

Sequencing Primer
(F):5'- CCATGGGGAGTTTCCATAGCAAC -3'
(R):5'- TTGGTGAAGAGACAGGATAATTTCC -3'

Posted On

2017-02-15