Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Hsd17b13'

726721

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 #

R9646 (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 C at 104124973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 70 (K70R)

Ref Sequence

ENSEMBL: ENSMUSP00000046772 (fasta)

Gene Model

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

AlphaFold

Q8VCR2

Predicted Effect

probably null
Transcript: ENSMUST00000048118
AA Change: K70R

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046772
Gene: ENSMUSG00000034528
AA Change: K70R

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: K70R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108422
Gene: ENSMUSG00000034528
AA Change: K70R

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

possibly damaging
Transcript: ENSMUST00000120320
AA Change: K70R

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113599
Gene: ENSMUSG00000034528
AA Change: K70R

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: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Ankrd42	A	T	7: 92,273,257 (GRCm39)	D123E	possibly damaging	Het
Anxa4	A	T	6: 86,730,814 (GRCm39)	I121N	probably damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Fhip2b	T	C	14: 70,827,808 (GRCm39)	H125R	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Lilra5	T	C	7: 4,244,907 (GRCm39)	L226P	probably damaging	Het
Muc2	C	T	7: 141,276,643 (GRCm39)	A11V	probably benign	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or52e4	T	C	7: 104,706,374 (GRCm39)	I307T	probably benign	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pigo	C	A	4: 43,017,967 (GRCm39)	R1083L	probably damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Triobp	T	C	15: 78,887,934 (GRCm39)	L1943P	probably damaging	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	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
R9369:Hsd17b13	UTSW	5	104,125,034 (GRCm39)	missense	probably damaging	1.00
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'- AGCTCGTTGGTTCCATCTTG -3'
(R):5'- TGAGAACAGAGCCATGAACC -3'

Sequencing Primer
(F):5'- ATCTTGTTCACCTGTCGCAG -3'
(R):5'- GAGCCATGAACCTCATCCTGG -3'

Posted On

2022-10-06