Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Hsd11b1'

34975

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

038493-MU

Accession Numbers

Essential gene?

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

Stock #

R0267 (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 192923705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 52 (Y52N)

Ref Sequence

ENSEMBL: ENSMUSP00000125620 (fasta)

Gene Model

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

AlphaFold

P50172

Predicted Effect

probably damaging
Transcript: ENSMUST00000016338
AA Change: Y52N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016338
Gene: ENSMUSG00000016194
AA Change: Y52N

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 damaging
Transcript: ENSMUST00000159644
AA Change: Y52N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124693
Gene: ENSMUSG00000016194
AA Change: Y52N

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 damaging
Transcript: ENSMUST00000160929
AA Change: Y22N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123849
Gene: ENSMUSG00000016194
AA Change: Y22N

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 damaging
Transcript: ENSMUST00000161737
AA Change: Y52N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125620
Gene: ENSMUSG00000016194
AA Change: Y52N

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

Meta Mutation Damage Score

0.5609

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm39)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,401,238 (GRCm39)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Adrb1	A	T	19: 56,711,923 (GRCm39)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,562,233 (GRCm39)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,358,551 (GRCm39)		probably benign	Het
Alox15	T	A	11: 70,236,979 (GRCm39)	H393L	probably damaging	Het
Aox1	A	G	1: 58,378,605 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,288 (GRCm39)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,092,379 (GRCm39)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,418,540 (GRCm39)	D737V	probably damaging	Het
C9	T	C	15: 6,496,939 (GRCm39)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,255,107 (GRCm39)		probably benign	Het
Chst1	C	A	2: 92,443,951 (GRCm39)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,475 (GRCm39)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,923,454 (GRCm39)	H113Q	probably benign	Het
Dcn	A	T	10: 97,342,345 (GRCm39)		probably benign	Het
Dmbx1	C	T	4: 115,775,309 (GRCm39)	A324T	probably benign	Het
Dock10	G	T	1: 80,490,171 (GRCm39)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,710,921 (GRCm39)	E443G	probably benign	Het
Espl1	T	C	15: 102,221,452 (GRCm39)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,647,213 (GRCm39)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,432,365 (GRCm39)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 30,770,159 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,335,867 (GRCm39)	V189A	probably benign	Het
Gins4	T	C	8: 23,719,426 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,845,319 (GRCm39)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,366,839 (GRCm39)		probably benign	Het
Gtpbp3	T	C	8: 71,944,141 (GRCm39)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,155,455 (GRCm39)	Y331*	probably null	Het
Jam3	A	G	9: 27,017,701 (GRCm39)	I29T	probably benign	Het
Kctd16	T	A	18: 40,663,930 (GRCm39)	I353N	probably benign	Het
Lama4	G	T	10: 38,904,635 (GRCm39)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,093,040 (GRCm39)	M137L	probably benign	Het
Morc2a	T	C	11: 3,628,567 (GRCm39)	I340T	probably benign	Het
Myo7a	A	C	7: 97,703,831 (GRCm39)	I1969S	probably benign	Het
Or14a258	T	C	7: 86,035,475 (GRCm39)	E131G	possibly damaging	Het
Or5b116	T	A	19: 13,422,792 (GRCm39)	C139S	probably damaging	Het
Or6n1	A	G	1: 173,916,732 (GRCm39)	N42S	probably damaging	Het
Pclo	T	C	5: 14,731,194 (GRCm39)	L3232P	unknown	Het
Polr1a	T	G	6: 71,951,123 (GRCm39)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,656,722 (GRCm39)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,386,066 (GRCm39)	T280A	probably benign	Het
Rfx3	T	C	19: 27,771,188 (GRCm39)	D521G	probably benign	Het
Scn5a	C	T	9: 119,372,201 (GRCm39)	V223I	probably damaging	Het
Sgsm3	T	G	15: 80,890,803 (GRCm39)	M119R	probably damaging	Het
Slc6a7	T	A	18: 61,129,783 (GRCm39)	M608L	probably benign	Het
Slit2	A	G	5: 48,339,673 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,723,561 (GRCm39)	I440F	probably benign	Het
Syn2	T	G	6: 115,231,111 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,361,203 (GRCm39)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,333,426 (GRCm39)		probably benign	Het
Trpm6	C	A	19: 18,800,742 (GRCm39)	P819T	probably benign	Het
Ttn	G	A	2: 76,574,033 (GRCm39)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,459,553 (GRCm39)		probably null	Het
Vars1	T	C	17: 35,230,572 (GRCm39)		probably benign	Het
Vip	A	T	10: 5,594,004 (GRCm39)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps33b	T	C	7: 79,935,802 (GRCm39)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,753,300 (GRCm39)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,297,362 (GRCm39)	S237T	probably benign	Het
Zfp142	G	A	1: 74,615,223 (GRCm39)	A427V	probably benign	Het
Zfp692	T	A	11: 58,205,140 (GRCm39)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,670,322 (GRCm39)	I384N	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
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
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'- TGAGCAGATACAGGAACCCCAGTC -3'
(R):5'- AACCGCAAGTGCAGCTTCAGTG -3'

Sequencing Primer
(F):5'- ACATGTATCTGCACAAGGGC -3'
(R):5'- GCAGCTTCAGTGGTTACAGC -3'

Posted On

2013-05-09