Mutagenetix > Incidental Mutation

Incidental Mutation 'R2484:Hnf1b'

250861

Institutional Source

Beutler Lab

Gene Symbol

Hnf1b

Ensembl Gene

ENSMUSG00000020679

Gene Name

HNF1 homeobox B

Synonyms

Hnf1beta, Tcf-2, Tcf2, HNF-1Beta, vHNF1, LFB3, hepatocyte nuclear factor-1 beta

MMRRC Submission

040408-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83741035-83796743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83752661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 73 (T73S)

Ref Sequence

ENSEMBL: ENSMUSP00000123297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021016] [ENSMUST00000108113] [ENSMUST00000108114] [ENSMUST00000146786]

AlphaFold

P27889

Predicted Effect

probably benign
Transcript: ENSMUST00000021016
AA Change: T222S

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

SMART Domains

Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: T222S

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	8	174	4.5e-67	PFAM
HOX	231	314	2.84e-8	SMART
low complexity region	334	344	N/A	INTRINSIC
low complexity region	538	550	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108113
AA Change: T99S

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

SMART Domains

Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
AA Change: T99S

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	1	59	9.2e-42	PFAM
HOX	108	191	2.84e-8	SMART
low complexity region	211	221	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108114
AA Change: T196S

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

SMART Domains

Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
AA Change: T196S

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	1	182	1.2e-85	PFAM
HOX	205	288	2.84e-8	SMART
low complexity region	308	318	N/A	INTRINSIC
low complexity region	512	524	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146786
AA Change: T73S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123297
Gene: ENSMUSG00000020679
AA Change: T73S

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	1	59	2.5e-42	PFAM
HOX	82	165	2.84e-8	SMART
low complexity region	185	195	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,541,819 (GRCm39)	D46N	possibly damaging	Het
A830018L16Rik	G	T	1: 11,666,526 (GRCm39)	A278S	probably damaging	Het
Acsbg3	A	G	17: 57,189,641 (GRCm39)	N252S	probably benign	Het
Adarb2	A	T	13: 8,619,810 (GRCm39)	K99*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atxn1l	A	G	8: 110,458,883 (GRCm39)	S460P	probably damaging	Het
Bicra	T	A	7: 15,722,605 (GRCm39)	N304I	possibly damaging	Het
Capn10	A	T	1: 92,872,565 (GRCm39)	D470V	probably damaging	Het
Chchd3	A	G	6: 32,780,950 (GRCm39)	Y184H	possibly damaging	Het
Col6a6	T	C	9: 105,658,003 (GRCm39)	I736M	probably damaging	Het
Dhx36	T	A	3: 62,380,236 (GRCm39)	N820I	probably damaging	Het
Drd4	C	T	7: 140,874,649 (GRCm39)	P347S	probably benign	Het
Ephx1	A	T	1: 180,817,537 (GRCm39)	V378D	probably damaging	Het
Extl3	A	T	14: 65,313,184 (GRCm39)	V666E	probably damaging	Het
Fam20c	G	C	5: 138,794,872 (GRCm39)	R500S	probably benign	Het
Glod4	A	T	11: 76,130,344 (GRCm39)	D42E	probably damaging	Het
Golga2	T	C	2: 32,194,782 (GRCm39)	I643T	probably benign	Het
Hydin	A	G	8: 111,239,747 (GRCm39)	Y2009C	possibly damaging	Het
Ido2	A	G	8: 25,023,831 (GRCm39)	C336R	probably damaging	Het
Ifngr1	T	C	10: 19,477,163 (GRCm39)	V108A	probably damaging	Het
Igbp1b	A	T	6: 138,634,492 (GRCm39)	N317K	probably benign	Het
Ints14	A	G	9: 64,893,366 (GRCm39)	S511G	probably benign	Het
Itpr1	T	C	6: 108,346,071 (GRCm39)	S125P	probably damaging	Het
Jag1	T	C	2: 136,926,620 (GRCm39)	T975A	possibly damaging	Het
Klra17	A	G	6: 129,845,720 (GRCm39)	W165R	probably damaging	Het
Leo1	T	A	9: 75,352,755 (GRCm39)	N99K	possibly damaging	Het
Lonp1	C	A	17: 56,921,659 (GRCm39)	G883C	probably damaging	Het
Lpin1	C	A	12: 16,597,500 (GRCm39)	G682W	probably damaging	Het
Macf1	A	C	4: 123,367,465 (GRCm39)	L2432R	probably damaging	Het
Med12l	T	G	3: 59,205,259 (GRCm39)	I2075M	probably benign	Het
Mroh6	A	G	15: 75,756,177 (GRCm39)	S660P	probably benign	Het
Myh6	G	T	14: 55,198,699 (GRCm39)	Y309*	probably null	Het
Myof	C	T	19: 37,892,291 (GRCm39)	R1154H	probably benign	Het
Myrip	G	A	9: 120,253,685 (GRCm39)	E253K	probably benign	Het
Ndst3	T	C	3: 123,346,186 (GRCm39)	D281G	possibly damaging	Het
Nipbl	T	C	15: 8,353,182 (GRCm39)	K1788R	probably damaging	Het
Nol12	A	G	15: 78,824,717 (GRCm39)		probably benign	Het
Nptn	A	G	9: 58,550,956 (GRCm39)	T212A	possibly damaging	Het
Nptx2	C	T	5: 144,493,155 (GRCm39)	A414V	probably damaging	Het
Nub1	A	G	5: 24,913,700 (GRCm39)	D503G	possibly damaging	Het
Obscn	T	A	11: 58,898,366 (GRCm39)		probably benign	Het
Or4a80	A	G	2: 89,582,578 (GRCm39)	I198T	probably benign	Het
Or51q1	A	G	7: 103,628,545 (GRCm39)	T49A	probably benign	Het
Or5b97	C	T	19: 12,879,005 (GRCm39)	M46I	probably benign	Het
Pcnx2	T	C	8: 126,617,859 (GRCm39)	E132G	probably damaging	Het
Pkdcc	A	G	17: 83,529,667 (GRCm39)		probably benign	Het
Prdm2	T	A	4: 142,861,776 (GRCm39)	I505F	probably damaging	Het
Psmc3	C	G	2: 90,886,346 (GRCm39)	Q169E	probably damaging	Het
Ptger4	A	T	15: 5,264,654 (GRCm39)	I334N	probably benign	Het
Ptrh1	T	C	2: 32,667,183 (GRCm39)	M161T	probably benign	Het
Rapgef6	T	A	11: 54,533,582 (GRCm39)	V482D	possibly damaging	Het
Rdh16f2	T	C	10: 127,710,946 (GRCm39)	S188P	probably damaging	Het
Rrh	T	C	3: 129,616,040 (GRCm39)	Y31C	probably damaging	Het
Selp	G	T	1: 163,971,523 (GRCm39)	W659L	probably benign	Het
Selp	G	T	1: 163,971,524 (GRCm39)	W659C	probably damaging	Het
Shh	A	G	5: 28,671,740 (GRCm39)	C8R	probably benign	Het
Spdye4b	C	A	5: 143,187,848 (GRCm39)	S167R	possibly damaging	Het
Strip1	T	C	3: 107,535,537 (GRCm39)	Y62C	possibly damaging	Het
Sucla2	A	T	14: 73,819,149 (GRCm39)	I232F	probably benign	Het
Sugp1	A	G	8: 70,522,174 (GRCm39)	D437G	possibly damaging	Het
Taf1a	A	G	1: 183,177,422 (GRCm39)		probably benign	Het
Tbc1d20	T	A	2: 152,153,283 (GRCm39)	M271K	probably damaging	Het
Tecpr2	T	C	12: 110,899,752 (GRCm39)	S707P	probably benign	Het
Tert	G	A	13: 73,796,104 (GRCm39)	R1017H	probably benign	Het
Tox	C	G	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Tpo	C	T	12: 30,153,968 (GRCm39)	A246T	probably benign	Het
Traf7	A	T	17: 24,730,613 (GRCm39)	V358D	probably damaging	Het
Trim56	C	T	5: 137,141,528 (GRCm39)	V663M	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usf3	C	T	16: 44,041,045 (GRCm39)	H1842Y	probably damaging	Het
Uvrag	T	C	7: 98,537,668 (GRCm39)	E509G	probably benign	Het
Vmn2r5	T	C	3: 64,411,392 (GRCm39)	D305G	possibly damaging	Het
Vmn2r52	T	C	7: 9,903,058 (GRCm39)	R457G	probably damaging	Het
Vti1a	A	C	19: 55,369,411 (GRCm39)	N101T	possibly damaging	Het
Zfp236	A	G	18: 82,686,762 (GRCm39)	F259L	probably benign	Het

Other mutations in Hnf1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Hnf1b	APN	11	83,746,750 (GRCm39)	missense	probably damaging	1.00
IGL00969:Hnf1b	APN	11	83,773,526 (GRCm39)	missense	probably benign	0.00
IGL01406:Hnf1b	APN	11	83,779,950 (GRCm39)	missense	probably benign	0.00
IGL02225:Hnf1b	APN	11	83,752,611 (GRCm39)	missense	probably damaging	0.98
IGL02370:Hnf1b	APN	11	83,773,559 (GRCm39)	missense	possibly damaging	0.94
IGL02827:Hnf1b	APN	11	83,746,752 (GRCm39)	missense	probably damaging	0.99
R0606:Hnf1b	UTSW	11	83,754,810 (GRCm39)	missense	probably benign	0.20
R1534:Hnf1b	UTSW	11	83,784,409 (GRCm39)	splice site	probably benign
R5396:Hnf1b	UTSW	11	83,746,863 (GRCm39)	missense	probably damaging	1.00
R5930:Hnf1b	UTSW	11	83,754,811 (GRCm39)	missense	probably benign	0.00
R5935:Hnf1b	UTSW	11	83,773,503 (GRCm39)	missense	probably damaging	1.00
R6310:Hnf1b	UTSW	11	83,795,737 (GRCm39)	missense	probably damaging	0.99
R6701:Hnf1b	UTSW	11	83,779,920 (GRCm39)	missense	probably damaging	1.00
R7681:Hnf1b	UTSW	11	83,779,972 (GRCm39)	missense	probably damaging	1.00
R9371:Hnf1b	UTSW	11	83,779,986 (GRCm39)	missense	probably benign	0.00
R9776:Hnf1b	UTSW	11	83,784,283 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGCCTGTCTGTCTATAGCGAG -3'
(R):5'- AGCCACACTTAGCTGGATAATCC -3'

Sequencing Primer
(F):5'- CCTGTCTGTCTATAGCGAGAAGGC -3'
(R):5'- AGGGCTGAACCTTTGCCTTC -3'

Posted On

2014-12-04