Mutagenetix > Incidental Mutation

Incidental Mutation 'R5061:Hsd11b1'

386589

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

042651-MU

Accession Numbers

Essential gene?

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

Stock #

R5061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

192903948-192946353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 192924553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 6 (N6K)

Ref Sequence

ENSEMBL: ENSMUSP00000125620 (fasta)

Gene Model

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

AlphaFold

P50172

Predicted Effect

probably benign
Transcript: ENSMUST00000016338
AA Change: N6K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016338
Gene: ENSMUSG00000016194
AA Change: N6K

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
AA Change: N6K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124693
Gene: ENSMUSG00000016194
AA Change: N6K

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
AA Change: N6K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125620
Gene: ENSMUSG00000016194
AA Change: N6K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

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
1700009N14Rik	A	G	4: 39,450,953 (GRCm39)	H53R	probably benign	Het
Abcg1	A	G	17: 31,311,366 (GRCm39)	K124E	probably damaging	Het
Acot4	G	T	12: 84,085,475 (GRCm39)	R64L	probably benign	Het
Adam22	G	C	5: 8,230,238 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,064,029 (GRCm39)		probably null	Het
Adgrb3	G	A	1: 25,107,209 (GRCm39)		probably benign	Het
Akap8l	T	G	17: 32,551,868 (GRCm39)	K441T	probably damaging	Het
Aspn	T	A	13: 49,720,080 (GRCm39)	S365R	probably damaging	Het
Atxn1	T	G	13: 45,710,569 (GRCm39)	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,099,375 (GRCm39)	H135N	probably damaging	Het
Borcs8	T	G	8: 70,593,008 (GRCm39)		probably null	Het
Col5a1	G	A	2: 27,842,390 (GRCm39)	D422N	unknown	Het
Cstad	A	T	2: 30,498,275 (GRCm39)	T37S	unknown	Het
Dgkq	A	T	5: 108,801,989 (GRCm39)	D455E	probably benign	Het
Dop1a	T	C	9: 86,385,161 (GRCm39)		probably benign	Het
Ebf3	T	C	7: 136,915,288 (GRCm39)	I84V	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
Eya3	T	A	4: 132,431,689 (GRCm39)	D323E	probably damaging	Het
F5	T	C	1: 164,021,749 (GRCm39)	L1408P	probably benign	Het
Fam110d	T	C	4: 133,979,041 (GRCm39)	T146A	probably benign	Het
Gfod1	C	T	13: 43,353,992 (GRCm39)	G328S	probably benign	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Gm10650	T	A	3: 127,833,666 (GRCm39)		noncoding transcript	Het
Gm14226	T	A	2: 154,867,106 (GRCm39)	H354Q	probably benign	Het
Gm15056	T	C	8: 21,390,758 (GRCm39)	T60A	probably benign	Het
Ighv1-36	T	C	12: 114,843,742 (GRCm39)	I39M	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kdm7a	G	A	6: 39,128,386 (GRCm39)	P482S	possibly damaging	Het
Lama5	C	A	2: 179,840,579 (GRCm39)	E607*	probably null	Het
Lao1	T	A	4: 118,824,673 (GRCm39)	S252T	probably benign	Het
Lrp12	A	G	15: 39,741,650 (GRCm39)	F355S	probably damaging	Het
Mlycd	T	C	8: 120,137,043 (GRCm39)	F421S	probably damaging	Het
Nectin3	T	C	16: 46,268,812 (GRCm39)	E530G	probably benign	Het
Nifk	T	C	1: 118,260,669 (GRCm39)	*270R	probably null	Het
Ocln	T	C	13: 100,676,106 (GRCm39)	Y129C	probably damaging	Het
Or10ag60	C	T	2: 87,438,176 (GRCm39)	T148I	probably benign	Het
Or4f54	T	A	2: 111,122,832 (GRCm39)	L73H	probably damaging	Het
Or52l1	T	A	7: 104,829,864 (GRCm39)	I219F	possibly damaging	Het
Or5b117	A	T	19: 13,431,349 (GRCm39)	C177*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppcs	T	C	4: 119,276,412 (GRCm39)	K58E	probably damaging	Het
Prss38	T	C	11: 59,265,196 (GRCm39)	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,447,744 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,017,217 (GRCm39)	F54L	possibly damaging	Het
Rwdd3	G	A	3: 120,953,432 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,650,422 (GRCm39)	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,604,359 (GRCm39)		probably null	Het
Serpinb10	A	G	1: 107,468,701 (GRCm39)	T115A	probably benign	Het
Slco1a8	T	A	6: 141,954,414 (GRCm39)	M20L	probably benign	Het
Slx4ip	T	G	2: 136,885,930 (GRCm39)	F83L	probably damaging	Het
St3gal1	A	T	15: 66,980,078 (GRCm39)	S274T	probably benign	Het
Stab1	A	C	14: 30,885,056 (GRCm39)	C121W	probably damaging	Het
Stab2	A	G	10: 86,743,249 (GRCm39)	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954 (GRCm39)	I77R	probably benign	Het
Tbk1	T	G	10: 121,412,241 (GRCm39)	E47A	possibly damaging	Het
Tert	C	T	13: 73,782,397 (GRCm39)	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,393,947 (GRCm39)	D252G	probably damaging	Het
Tll1	C	A	8: 64,506,983 (GRCm39)	C586F	probably damaging	Het
Tln2	T	G	9: 67,261,750 (GRCm39)	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945 (GRCm39)	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,627,542 (GRCm39)		probably null	Het
Unc79	T	A	12: 103,134,700 (GRCm39)	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,689,471 (GRCm39)	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840 (GRCm39)	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,315,741 (GRCm39)	S693A	probably benign	Het
Vps54	G	A	11: 21,269,881 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,907,318 (GRCm39)		probably benign	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
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'- AGTCTGTGGCTGGAGGATACAG -3'
(R):5'- TTGCTCTGACAGGGAAGTTG -3'

Sequencing Primer
(F):5'- CAGGGTTACAGATTCAACATTAGG -3'
(R):5'- GGCTAGTGCTGCCTGAGACTAC -3'

Posted On

2016-06-06