Mutagenetix > Incidental Mutation

Incidental Mutation 'R5531:Hsd11b1'

433674

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

043089-MU

Accession Numbers

Essential gene?

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

Stock #

R5531 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

192903948-192946353 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CGG to CG at 192922557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125620 (fasta)

Gene Model

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

AlphaFold

P50172

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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: 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: 98.6%
3x: 97.5%
10x: 95.6%
20x: 92.2%

Validation Efficiency

97% (64/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,342,767 (GRCm39)	F878L	possibly damaging	Het
Acr	T	A	15: 89,458,146 (GRCm39)	Y276N	probably damaging	Het
AI987944	A	T	7: 41,023,814 (GRCm39)	Y388*	probably null	Het
Ankrd29	G	A	18: 12,412,835 (GRCm39)	T114I	probably damaging	Het
Ap5z1	T	C	5: 142,453,536 (GRCm39)	M168T	probably benign	Het
Bard1	A	C	1: 71,085,880 (GRCm39)	C608W	probably damaging	Het
Brd10	A	G	19: 29,731,072 (GRCm39)	S647P	possibly damaging	Het
Clspn	A	G	4: 126,471,566 (GRCm39)	R907G	probably benign	Het
Cubn	C	T	2: 13,355,743 (GRCm39)	V1830I	probably benign	Het
Cwc22	T	C	2: 77,754,913 (GRCm39)	N221S	probably damaging	Het
Dact3	A	G	7: 16,609,540 (GRCm39)	E64G	possibly damaging	Het
Dhx40	T	C	11: 86,680,330 (GRCm39)	E381G	possibly damaging	Het
Dnah7a	A	G	1: 53,458,907 (GRCm39)	S3744P	possibly damaging	Het
Epha4	A	G	1: 77,351,513 (GRCm39)	V914A	probably benign	Het
Fbxw10	G	A	11: 62,753,482 (GRCm39)	C492Y	probably damaging	Het
G930045G22Rik	C	A	6: 50,824,756 (GRCm39)		noncoding transcript	Het
Gm21103	A	T	14: 17,484,855 (GRCm39)	I63K	probably damaging	Het
Gpr156	T	C	16: 37,825,619 (GRCm39)	V612A	probably benign	Het
Gucy2g	A	G	19: 55,229,572 (GRCm39)	S33P	probably benign	Het
Hibch	A	G	1: 52,884,228 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,619,539 (GRCm39)	C1192S	probably damaging	Het
Ifi214	A	G	1: 173,352,686 (GRCm39)	Y248H	probably damaging	Het
Igf2bp2	T	G	16: 21,907,835 (GRCm39)	I89L	probably damaging	Het
Il2ra	A	T	2: 11,681,703 (GRCm39)	T103S	possibly damaging	Het
Ino80	T	A	2: 119,276,056 (GRCm39)	M407L	probably benign	Het
Jade1	A	C	3: 41,567,946 (GRCm39)	K671N	probably benign	Het
Lca5	C	T	9: 83,280,648 (GRCm39)	S384N	probably benign	Het
Lce1l	G	T	3: 92,757,804 (GRCm39)	P18H	unknown	Het
Lrrc8d	T	C	5: 105,945,536 (GRCm39)		probably benign	Het
Ly75	T	C	2: 60,195,489 (GRCm39)	N223S	probably damaging	Het
Mcm3	A	T	1: 20,873,768 (GRCm39)	F784Y	possibly damaging	Het
Ncf4	T	G	15: 78,144,988 (GRCm39)		probably benign	Het
Ncoa1	T	A	12: 4,303,746 (GRCm39)	M1362L	probably benign	Het
Or1e16	T	C	11: 73,286,003 (GRCm39)	T282A	probably benign	Het
Or5p5	A	G	7: 107,414,451 (GRCm39)	Y220C	probably benign	Het
Or6c8b	G	C	10: 128,882,433 (GRCm39)	F166L	probably damaging	Het
Prkg2	T	C	5: 99,115,593 (GRCm39)	R543G	probably damaging	Het
Ptprd	A	C	4: 75,977,904 (GRCm39)		probably null	Het
Scap	A	G	9: 110,210,497 (GRCm39)	S969G	possibly damaging	Het
Sgk2	T	C	2: 162,836,624 (GRCm39)	F60S	probably benign	Het
Sgpp1	G	T	12: 75,781,981 (GRCm39)	Y119*	probably null	Het
Siglech	A	T	7: 55,418,413 (GRCm39)	K31*	probably null	Het
Slc40a1	A	G	1: 45,951,498 (GRCm39)	Y220H	probably damaging	Het
Smurf2	G	A	11: 106,743,389 (GRCm39)	T219M	possibly damaging	Het
Speer4f2	A	G	5: 17,581,526 (GRCm39)	K156R	possibly damaging	Het
Spp1	T	G	5: 104,588,424 (GRCm39)	D276E	probably benign	Het
Stk32b	T	C	5: 37,617,078 (GRCm39)		probably null	Het
Stxbp5	G	A	10: 9,638,668 (GRCm39)	Q1044*	probably null	Het
Sv2c	T	A	13: 96,097,886 (GRCm39)	T696S	probably damaging	Het
Tubgcp2	A	C	7: 139,584,937 (GRCm39)		probably null	Het
Ubap1l	C	T	9: 65,278,973 (GRCm39)	P91S	probably damaging	Het
Vmn2r76	A	T	7: 85,874,657 (GRCm39)	D773E	probably damaging	Het
Xirp2	C	G	2: 67,345,646 (GRCm39)	S2629C	probably benign	Het
Zbtb20	C	A	16: 43,431,230 (GRCm39)	C580*	probably null	Het
Zfp957	T	A	14: 79,450,622 (GRCm39)	Q392H	unknown	Het
Zfyve19	C	T	2: 119,042,427 (GRCm39)	T178M	probably damaging	Het
Zswim6	T	C	13: 107,906,128 (GRCm39)		noncoding transcript	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
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
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'- CCCAAGTCCCTGATGAGTGAAC -3'
(R):5'- AGCGCATCTATCTCTTTGCAG -3'

Sequencing Primer
(F):5'- AAGTCCCTGATGAGTGAACCTGTC -3'
(R):5'- ATCTCTTTGCAGGCGGAC -3'

Posted On

2016-10-06