Mutagenetix > Incidental Mutation

Incidental Mutation 'R0591:Hsd11b1'

55955

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

038781-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R0591 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

192903948-192946353 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 192911984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142053 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000159273

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: ENSMUST00000162977

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

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

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,774,704 (GRCm39)	E1298*	probably null	Het
Aadacl2fm2	C	A	3: 59,659,550 (GRCm39)	Y334*	probably null	Het
Adam19	T	C	11: 46,012,238 (GRCm39)		probably benign	Het
Agt	A	T	8: 125,283,678 (GRCm39)	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,461,252 (GRCm39)	D1769E	probably benign	Het
Aox4	T	C	1: 58,278,261 (GRCm39)		probably benign	Het
Apol9b	G	A	15: 77,619,830 (GRCm39)	V209I	possibly damaging	Het
Appl2	A	T	10: 83,460,509 (GRCm39)	I116K	possibly damaging	Het
BC051665	A	G	13: 60,932,422 (GRCm39)		probably benign	Het
Cactin	G	T	10: 81,159,837 (GRCm39)	E89*	probably null	Het
Carf	G	T	1: 60,165,073 (GRCm39)		probably benign	Het
Ccdc167	A	G	17: 29,924,235 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,885,808 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,621,353 (GRCm39)	K574*	probably null	Het
Crabp1	T	A	9: 54,672,887 (GRCm39)	I64N	probably damaging	Het
Dgkd	T	A	1: 87,842,826 (GRCm39)	I118N	probably damaging	Het
Dglucy	T	C	12: 100,825,777 (GRCm39)		probably benign	Het
Dock10	C	T	1: 80,518,936 (GRCm39)		probably benign	Het
Ednrb	A	T	14: 104,060,710 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,279,973 (GRCm39)		probably benign	Het
Golga3	A	C	5: 110,336,609 (GRCm39)	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,520,445 (GRCm39)	V159A	probably benign	Het
Heatr5a	A	T	12: 51,956,884 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,873,909 (GRCm39)	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,569,295 (GRCm39)	N76K	possibly damaging	Het
Iftap	A	T	2: 101,406,462 (GRCm39)	D155E	probably benign	Het
Inhba	A	T	13: 16,201,405 (GRCm39)	K322N	probably damaging	Het
Katnal1	A	T	5: 148,829,326 (GRCm39)	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,150,665 (GRCm39)	E316G	probably damaging	Het
Lrsam1	A	G	2: 32,823,935 (GRCm39)		probably benign	Het
Mcf2l	T	G	8: 13,068,751 (GRCm39)	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470 (GRCm39)	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,433,827 (GRCm39)		probably benign	Het
Nars1	A	T	18: 64,633,638 (GRCm39)	I544N	probably damaging	Het
Or5ak23	A	G	2: 85,245,034 (GRCm39)	L63P	possibly damaging	Het
Pbrm1	A	G	14: 30,768,387 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,796,932 (GRCm39)		probably benign	Het
Pnliprp1	A	G	19: 58,723,138 (GRCm39)	D213G	probably damaging	Het
Psap	A	G	10: 60,136,634 (GRCm39)	N538D	possibly damaging	Het
Ptdss1	A	G	13: 67,120,714 (GRCm39)		probably benign	Het
Rap1b	G	A	10: 117,654,522 (GRCm39)		probably benign	Het
Rhcg	T	A	7: 79,244,520 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,804,220 (GRCm39)	T550I	possibly damaging	Het
Samm50	G	A	15: 84,095,369 (GRCm39)	G452R	probably benign	Het
Scin	A	G	12: 40,130,929 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,854 (GRCm39)	L81S	probably damaging	Het
Skint6	A	C	4: 112,715,366 (GRCm39)		probably benign	Het
Slc30a4	A	T	2: 122,527,160 (GRCm39)	L411H	probably damaging	Het
Slc44a5	C	T	3: 153,939,782 (GRCm39)		probably benign	Het
Slc4a3	C	T	1: 75,525,665 (GRCm39)	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,088,593 (GRCm39)	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,440,458 (GRCm39)	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnks2	T	A	19: 36,849,962 (GRCm39)	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,227,037 (GRCm39)	N1490K	probably benign	Het
Ube4b	T	G	4: 149,442,034 (GRCm39)		probably benign	Het
Usp4	G	A	9: 108,225,228 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r184	A	T	7: 25,966,500 (GRCm39)	D82V	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
R0334:Hsd11b1	UTSW	1	192,924,476 (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'- CCAATATGCCATGACTGGCTCTTGC -3'
(R):5'- ATGGTCCCAACCAGGAGGAAATCC -3'

Sequencing Primer
(F):5'- atattctggcatgatttgatttgaac -3'
(R):5'- caggggaggcagaaaatgg -3'

Posted On

2013-07-11