Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Hsd11b1'

26087

Institutional Source

Beutler Lab

Gene Symbol

Hsd11b1

Ensembl Gene

ENSMUSG00000016194

Gene Name

hydroxysteroid 11-beta dehydrogenase 1

Synonyms

11beta-hydroxysteroid dehydrogenase type 1, 11beta-HSD-1

MMRRC Submission

038543-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

192903948-192946353 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 192924476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016338] [ENSMUST00000159644] [ENSMUST00000160929] [ENSMUST00000161737] [ENSMUST00000194677] [ENSMUST00000192322]

AlphaFold

P50172

Predicted Effect

probably benign
Transcript: ENSMUST00000016338

SMART Domains

Protein: ENSMUSP00000016338
Gene: ENSMUSG00000016194

Domain	Start	End	E-Value	Type
Pfam:adh_short	35	230	1.1e-53	PFAM
Pfam:KR	36	215	2.4e-9	PFAM
Pfam:adh_short_C2	41	248	3.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159644

SMART Domains

Protein: ENSMUSP00000124693
Gene: ENSMUSG00000016194

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:adh_short	47	214	2.1e-32	PFAM
Pfam:KR	48	223	1.6e-10	PFAM
Pfam:adh_short_C2	53	221	4.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160929

SMART Domains

Protein: ENSMUSP00000123849
Gene: ENSMUSG00000016194

Domain	Start	End	E-Value	Type
Pfam:adh_short	5	172	1.5e-32	PFAM
Pfam:KR	6	184	8.2e-11	PFAM
Pfam:adh_short_C2	11	218	1.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161406

SMART Domains

Protein: ENSMUSP00000124142
Gene: ENSMUSG00000016194

Domain	Start	End	E-Value	Type
Pfam:adh_short	1	72	1.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161737

SMART Domains

Protein: ENSMUSP00000125620
Gene: ENSMUSG00000016194

Domain	Start	End	E-Value	Type
Pfam:adh_short	35	202	2.6e-32	PFAM
Pfam:KR	36	216	1.7e-10	PFAM
Pfam:adh_short_C2	41	248	3.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162842

SMART Domains

Protein: ENSMUSP00000124715
Gene: ENSMUSG00000016194

Domain	Start	End	E-Value	Type
Pfam:adh_short	1	132	4.4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191977

Predicted Effect

probably benign
Transcript: ENSMUST00000194677

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192322

SMART Domains

Protein: ENSMUSP00000141302
Gene: ENSMUSG00000026639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	244	2.9e-80	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display improved glucose tolerance and lower circulating lipid levels. Mice homozygous for a different targeted allele exhibit decreased susceptibility to weight gain, adiposis or hyperinsulinemia induced by 11-DHC. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,008,553 (GRCm39)		probably null	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Cbs	T	C	17: 31,838,130 (GRCm39)	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Disc1	A	T	8: 125,987,836 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
H2-T24	A	G	17: 36,325,772 (GRCm39)	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,252,508 (GRCm39)		probably null	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8b54	A	T	9: 38,686,535 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,713,867 (GRCm39)	H1094Q	probably damaging	Het

Other mutations in Hsd11b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Hsd11b1	APN	1	192,923,766 (GRCm39)	start codon destroyed	probably null	0.43
IGL00969:Hsd11b1	APN	1	192,905,952 (GRCm39)	nonsense	probably null
IGL02068:Hsd11b1	APN	1	192,904,354 (GRCm39)	nonsense	probably null
IGL02331:Hsd11b1	APN	1	192,922,924 (GRCm39)	missense	probably damaging	1.00
H8786:Hsd11b1	UTSW	1	192,922,560 (GRCm39)	missense	probably benign	0.30
R0207:Hsd11b1	UTSW	1	192,922,556 (GRCm39)	missense	probably damaging	1.00
R0267:Hsd11b1	UTSW	1	192,923,705 (GRCm39)	missense	probably damaging	1.00
R0591:Hsd11b1	UTSW	1	192,911,984 (GRCm39)	intron	probably benign
R1244:Hsd11b1	UTSW	1	192,906,068 (GRCm39)	missense	probably benign	0.02
R1569:Hsd11b1	UTSW	1	192,922,635 (GRCm39)	missense	probably damaging	0.99
R1570:Hsd11b1	UTSW	1	192,922,635 (GRCm39)	missense	probably damaging	0.99
R1892:Hsd11b1	UTSW	1	192,906,068 (GRCm39)	missense	probably benign	0.02
R2021:Hsd11b1	UTSW	1	192,922,686 (GRCm39)	missense	probably benign	0.00
R2022:Hsd11b1	UTSW	1	192,922,686 (GRCm39)	missense	probably benign	0.00
R2023:Hsd11b1	UTSW	1	192,922,686 (GRCm39)	missense	probably benign	0.00
R5061:Hsd11b1	UTSW	1	192,924,553 (GRCm39)	missense	probably benign
R5531:Hsd11b1	UTSW	1	192,922,557 (GRCm39)	frame shift	probably null
R5768:Hsd11b1	UTSW	1	192,922,554 (GRCm39)	missense	probably damaging	0.99
R5793:Hsd11b1	UTSW	1	192,924,492 (GRCm39)	missense	probably damaging	1.00
R5795:Hsd11b1	UTSW	1	192,922,940 (GRCm39)	missense	possibly damaging	0.85
R6359:Hsd11b1	UTSW	1	192,924,660 (GRCm39)	intron	probably benign
R8440:Hsd11b1	UTSW	1	192,904,420 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCCATGCTGTAGGTCCAGCAAAG -3'
(R):5'- CCAATCGTTGCTCTGACAGGGAAG -3'

Sequencing Primer
(F):5'- GCAAAGCATGACCTCCTTGG -3'
(R):5'- TGTCACAATTCAGAGGCTGC -3'

Posted On

2013-04-16