Mutagenetix > Incidental Mutation

Incidental Mutation 'R1419:H2-Ke6'

160009

Institutional Source

Beutler Lab

Gene Symbol

H2-Ke6

Ensembl Gene

ENSMUSG00000073422

Gene Name

H2-K region expressed gene 6

Synonyms

Ring2, H-2Ke6

MMRRC Submission

039475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1419 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

34026033-34028060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34027643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 89 (R89C)

Ref Sequence

ENSEMBL: ENSMUSP00000133546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025183] [ENSMUST00000025186] [ENSMUST00000044858] [ENSMUST00000045467] [ENSMUST00000114303] [ENSMUST00000116612] [ENSMUST00000169397] [ENSMUST00000173554] [ENSMUST00000173354] [ENSMUST00000171872]

AlphaFold

P50171

Predicted Effect

probably benign
Transcript: ENSMUST00000025183

SMART Domains

Protein: ENSMUSP00000025183
Gene: ENSMUSG00000024325

Domain	Start	End	E-Value	Type
RING	48	87	7.92e-8	SMART
low complexity region	171	229	N/A	INTRINSIC
low complexity region	236	261	N/A	INTRINSIC
Pfam:RAWUL	272	400	4.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025186

SMART Domains

Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	2.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044858

SMART Domains

Protein: ENSMUSP00000036585
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	66	85	N/A	INTRINSIC
low complexity region	94	121	N/A	INTRINSIC
low complexity region	124	147	N/A	INTRINSIC
low complexity region	179	186	N/A	INTRINSIC
ZnF_C4	189	260	3.98e-39	SMART
low complexity region	269	282	N/A	INTRINSIC
low complexity region	305	316	N/A	INTRINSIC
HOLI	328	491	1.91e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000045467
AA Change: R82C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422
AA Change: R82C

Domain	Start	End	E-Value	Type
Pfam:KR	10	201	1.5e-16	PFAM
Pfam:adh_short	10	213	4.5e-52	PFAM
Pfam:adh_short_C2	16	258	8.6e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083621

Predicted Effect

probably benign
Transcript: ENSMUST00000114303
AA Change: R89C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422
AA Change: R89C

Domain	Start	End	E-Value	Type
Pfam:KR	10	202	5.5e-16	PFAM
Pfam:adh_short	22	193	2.7e-30	PFAM
Pfam:adh_short_C2	23	234	1.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116612

SMART Domains

Protein: ENSMUSP00000112311
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	377	1.35e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

probably benign
Transcript: ENSMUST00000169397

SMART Domains

Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	1.9e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199860

Predicted Effect

probably benign
Transcript: ENSMUST00000174299

SMART Domains

Protein: ENSMUSP00000133775
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	52	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
low complexity region	110	117	N/A	INTRINSIC
ZnF_C4	120	191	3.98e-39	SMART
low complexity region	200	213	N/A	INTRINSIC
low complexity region	236	247	N/A	INTRINSIC
HOLI	259	418	1.35e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173554

SMART Domains

Protein: ENSMUSP00000134299
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.9e-11	PFAM
ZnF_C4	79	150	3.98e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173354

SMART Domains

Protein: ENSMUSP00000133661
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	381	1.91e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171872

SMART Domains

Protein: ENSMUSP00000133146
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	246	4.7e-25	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,374,902	M894K	probably benign	Het
Ablim1	C	A	19: 57,134,633	C173F	probably damaging	Het
Abtb2	G	T	2: 103,709,420	R710L	probably benign	Het
AI481877	T	C	4: 59,064,457	T826A	possibly damaging	Het
Arap3	T	C	18: 37,978,432	T1144A	possibly damaging	Het
Arhgef12	A	T	9: 43,027,220	V92D	probably damaging	Het
Ash1l	T	G	3: 88,984,897	M1361R	probably damaging	Het
Atm	A	C	9: 53,457,489	N2337K	probably benign	Het
Cog7	T	C	7: 121,955,992	E316G	probably damaging	Het
Dsp	A	G	13: 38,186,695	Y858C	probably damaging	Het
Enc1	G	T	13: 97,246,184	G401C	probably damaging	Het
Gata6	T	C	18: 11,064,706	V506A	probably benign	Het
Gm16380	C	T	9: 53,884,187		noncoding transcript	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ift80	T	A	3: 68,940,198	N322Y	probably damaging	Het
Igsf9	T	A	1: 172,498,011	V1082E	probably damaging	Het
Katnal2	A	T	18: 76,977,432	L481Q	possibly damaging	Het
Kcnma1	T	C	14: 23,367,642	T713A	probably damaging	Het
Kif13a	T	C	13: 46,825,235	T230A	probably damaging	Het
Klhl14	C	A	18: 21,652,193	R59L	probably damaging	Het
Mecom	A	G	3: 29,980,889	C213R	probably damaging	Het
Mrpl13	T	A	15: 55,534,321	M178L	probably benign	Het
Myof	T	C	19: 37,901,911	E1971G	probably damaging	Het
Naa10	A	G	X: 73,917,916	V133A	probably damaging	Het
Nlrp4g	G	A	9: 124,349,434		noncoding transcript	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1042	A	G	2: 86,159,429	*314Q	probably null	Het
Olfr1234	T	C	2: 89,363,322	T36A	probably damaging	Het
Olfr1297	A	T	2: 111,621,295	F260I	probably benign	Het
Oplah	T	C	15: 76,297,920	I1047V	probably benign	Het
Paip1	A	G	13: 119,457,017	D189G	probably damaging	Het
Pkn1	A	G	8: 83,673,522	F624L	probably damaging	Het
Plxnb1	C	A	9: 109,114,386	P1899H	probably damaging	Het
Rpa3	T	A	6: 8,257,720	E47D	probably benign	Het
Snai2	C	T	16: 14,708,180	H232Y	possibly damaging	Het
Spint5	T	C	2: 164,715,411	S23P	possibly damaging	Het
St8sia2	G	A	7: 73,966,994	Q78*	probably null	Het
Tktl2	A	G	8: 66,513,038	N416S	probably damaging	Het
Tm7sf3	T	A	6: 146,603,977	I494F	possibly damaging	Het
Trf	C	T	9: 103,226,108	V119M	probably damaging	Het

Other mutations in H2-Ke6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:H2-Ke6	APN	17	34026861	missense	probably damaging	0.97
R1565:H2-Ke6	UTSW	17	34027495	missense	possibly damaging	0.87
R2017:H2-Ke6	UTSW	17	34026213	missense	probably damaging	0.96
R3802:H2-Ke6	UTSW	17	34026467	missense	probably damaging	1.00
R3803:H2-Ke6	UTSW	17	34026467	missense	probably damaging	1.00
R4988:H2-Ke6	UTSW	17	34027288	missense	probably damaging	1.00
R5081:H2-Ke6	UTSW	17	34027578	unclassified	probably benign
R5164:H2-Ke6	UTSW	17	34026978	unclassified	probably benign
R5447:H2-Ke6	UTSW	17	34026912	missense	probably damaging	1.00
R5475:H2-Ke6	UTSW	17	34027313	unclassified	probably benign
R5667:H2-Ke6	UTSW	17	34026461	missense	probably null	1.00
R5671:H2-Ke6	UTSW	17	34026461	missense	probably null	1.00
R6052:H2-Ke6	UTSW	17	34027455	missense	probably damaging	1.00
R6833:H2-Ke6	UTSW	17	34027217	missense	probably damaging	1.00
R6834:H2-Ke6	UTSW	17	34027217	missense	probably damaging	1.00
R7853:H2-Ke6	UTSW	17	34027437	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- AGGTTGACAGCTATGACTCTGTCCC -3'
(R):5'- TGAGTTTCAGTAACTTTGCGCCCC -3'

Sequencing Primer
(F):5'- CTTCTGACATGTGGAGCAGAAAC -3'
(R):5'- ATCTCAGGTGCGGGTAGC -3'

Posted On

2014-03-14