Mutagenetix > Incidental Mutation

Incidental Mutation 'R1534:Hnf1b'

166837

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

039573-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1534 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

83741035-83796743 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 83784409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103749 (fasta)

Gene Model

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

AlphaFold

P27889

Predicted Effect

probably benign
Transcript: ENSMUST00000021016

SMART Domains

Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679

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

SMART Domains

Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679

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

SMART Domains

Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,345,881 (GRCm39)	I310T	probably damaging	Het
Adcy5	T	C	16: 35,073,629 (GRCm39)	V469A	possibly damaging	Het
Agrn	C	T	4: 156,261,141 (GRCm39)	C652Y	probably damaging	Het
Ankfn1	C	T	11: 89,413,977 (GRCm39)	V133M	probably damaging	Het
Ankrd13c	A	G	3: 157,706,757 (GRCm39)	T448A	probably benign	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
B4galt2	T	C	4: 117,734,669 (GRCm39)	H233R	probably damaging	Het
Bpifb5	T	G	2: 154,071,419 (GRCm39)	Y249D	possibly damaging	Het
Brd1	T	C	15: 88,573,866 (GRCm39)	I1078V	possibly damaging	Het
Celsr3	A	G	9: 108,726,083 (GRCm39)	E3104G	probably damaging	Het
Cyp2c69	T	A	19: 39,839,593 (GRCm39)	K343N	probably benign	Het
Cyp4f18	T	A	8: 72,746,799 (GRCm39)	D331V	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,378 (GRCm39)	V261A	possibly damaging	Het
Dchs1	T	C	7: 105,421,247 (GRCm39)	D391G	probably damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,944,238 (GRCm39)	F1044L	probably damaging	Het
Frrs1	A	T	3: 116,672,057 (GRCm39)	T52S	probably benign	Het
Gan	G	A	8: 117,914,168 (GRCm39)	V189I	probably benign	Het
Itgae	T	C	11: 73,036,431 (GRCm39)	I1123T	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lrrc18	A	G	14: 32,730,478 (GRCm39)	K6E	possibly damaging	Het
Map2	G	A	1: 66,452,339 (GRCm39)	V492I	probably benign	Het
Mtr	A	T	13: 12,250,430 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,269,330 (GRCm39)	A689E	possibly damaging	Het
Or52n2c	G	A	7: 104,574,621 (GRCm39)	L117F	possibly damaging	Het
Or5w22	T	A	2: 87,363,016 (GRCm39)	V213D	probably damaging	Het
Palm	T	G	10: 79,652,737 (GRCm39)	V42G	probably damaging	Het
Pcm1	G	A	8: 41,740,738 (GRCm39)	V995I	probably benign	Het
Pfkp	A	G	13: 6,669,574 (GRCm39)	V215A	probably damaging	Het
Prkg2	T	C	5: 99,142,420 (GRCm39)	Y238C	probably damaging	Het
Prr14	C	T	7: 127,073,154 (GRCm39)	A167V	probably benign	Het
Ptprn	A	C	1: 75,234,587 (GRCm39)		probably null	Het
Rexo2	A	T	9: 48,380,190 (GRCm39)	I214N	probably damaging	Het
Rrbp1	A	G	2: 143,830,233 (GRCm39)	S645P	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Satb2	A	T	1: 56,987,392 (GRCm39)	C64*	probably null	Het
Sez6	A	G	11: 77,853,871 (GRCm39)	Y347C	probably damaging	Het
Sos2	A	G	12: 69,663,729 (GRCm39)	I585T	probably damaging	Het
Spg11	G	A	2: 121,922,806 (GRCm39)	T881M	probably damaging	Het
Tiam1	A	T	16: 89,664,396 (GRCm39)		probably null	Het
Tlcd5	A	G	9: 43,022,923 (GRCm39)	W126R	probably damaging	Het
Top1	T	C	2: 160,556,152 (GRCm39)	I537T	probably damaging	Het
Trappc6a	A	G	7: 19,248,138 (GRCm39)	S33G	probably benign	Het
Tspan11	G	C	6: 127,926,768 (GRCm39)	V239L	probably benign	Het
Ubr4	T	C	4: 139,155,462 (GRCm39)	V2190A	possibly damaging	Het
Usp28	A	G	9: 48,896,806 (GRCm39)	D9G	possibly damaging	Het
Uty	A	G	Y: 1,245,440 (GRCm39)	V35A	probably benign	Het
Vmn2r56	A	G	7: 12,427,954 (GRCm39)	S771P	probably benign	Het
Wars2	C	T	3: 99,124,177 (GRCm39)	A346V	probably damaging	Het
Wdr87-ps	G	T	7: 29,229,854 (GRCm39)		noncoding transcript	Het
Zfp142	G	T	1: 74,611,247 (GRCm39)	N849K	probably benign	Het
Zfp180	A	T	7: 23,800,948 (GRCm39)	N66I	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
R2484:Hnf1b	UTSW	11	83,752,661 (GRCm39)	missense	probably benign	0.00
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'- GGTGTCCCGGTCATTAACAGTGTG -3'
(R):5'- GGGAAGATGCTGATTGACTGCTGAG -3'

Sequencing Primer
(F):5'- TCCAGTTCTCTCAACAGCTGC -3'
(R):5'- GAAAGTGCTGTGTGCTCTG -3'

Posted On

2014-04-13