Mutagenetix > Incidental Mutation

Incidental Mutation 'R2898:Hnf1a'

261345

Institutional Source

Beutler Lab

Gene Symbol

Hnf1a

Ensembl Gene

ENSMUSG00000029556

Gene Name

HNF1 homeobox A

Synonyms

hepatocyte nuclear factor 1, Tcf1, HNF1, HNF1[a], Hnf-1, HNF1-alpha, LFB1, Hnf1alpha

MMRRC Submission

040486-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R2898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115087039-115109121 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 115098106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 165 (W165*)

Ref Sequence

ENSEMBL: ENSMUSP00000135678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031535] [ENSMUST00000176550] [ENSMUST00000176911]

AlphaFold

P22361

Predicted Effect

probably null
Transcript: ENSMUST00000031535
AA Change: W165*

SMART Domains

Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556
AA Change: W165*

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	8	168	4e-57	PFAM
HOX	199	282	1.85e-7	SMART
low complexity region	288	297	N/A	INTRINSIC
Blast:HOX	394	439	7e-20	BLAST
Pfam:HNF-1A_C	540	627	3.4e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000176550
AA Change: W165*

SMART Domains

Protein: ENSMUSP00000135678
Gene: ENSMUSG00000029556
AA Change: W165*

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	1	176	4e-86	PFAM
Blast:HOX	199	238	2e-20	BLAST
SCOP:d1lfb__	203	238	2e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176911

SMART Domains

Protein: ENSMUSP00000135539
Gene: ENSMUSG00000029556

Domain	Start	End	E-Value	Type
Pfam:HNF-1_N	1	118	6.4e-32	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a hepatic transcription factor. The encoded protein is not a member of the T-cell factor family, and is distinct from T-cell specific transcription factor 7 which has also been referred to by the symbol Tcf1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	C	T	4: 155,987,916 (GRCm39)	R547C	possibly damaging	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adcy6	A	G	15: 98,491,369 (GRCm39)	S1075P	probably damaging	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Bnipl	T	A	3: 95,150,360 (GRCm39)	H219L	probably benign	Het
Brwd1	C	A	16: 95,867,300 (GRCm39)	M178I	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Cit	A	G	5: 116,012,037 (GRCm39)		probably null	Het
Coq9	T	C	8: 95,579,752 (GRCm39)	Y236H	probably damaging	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Dnah10	G	A	5: 124,894,734 (GRCm39)	R3433H	probably damaging	Het
Dnmt3b	G	T	2: 153,509,550 (GRCm39)	V268L	possibly damaging	Het
Fbxw21	T	C	9: 108,985,404 (GRCm39)	T125A	possibly damaging	Het
Fzd9	T	G	5: 135,278,700 (GRCm39)	D395A	probably damaging	Het
Gfm2	T	C	13: 97,309,469 (GRCm39)	V642A	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmgxb3	C	T	18: 61,288,368 (GRCm39)	V500M	probably benign	Het
Hsd3b1	A	T	3: 98,760,623 (GRCm39)	C123S	probably benign	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lmo7	A	G	14: 102,114,350 (GRCm39)	T31A	possibly damaging	Het
Lrrc15	C	T	16: 30,092,604 (GRCm39)	R245H	probably benign	Het
Lrriq1	T	C	10: 103,063,111 (GRCm39)	N65S	probably damaging	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myo7a	G	T	7: 97,703,631 (GRCm39)	Y2003*	probably null	Het
Myo7a	T	C	7: 97,746,413 (GRCm39)	N246D	probably damaging	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Or51g1	T	A	7: 102,634,084 (GRCm39)	I96F	probably benign	Het
Or8b1c	T	C	9: 38,384,271 (GRCm39)	V76A	probably damaging	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Ppp1r10	A	G	17: 36,239,784 (GRCm39)	K501R	probably damaging	Het
Ppp1r9a	C	T	6: 4,906,558 (GRCm39)	T371I	probably benign	Het
Prpf8	A	T	11: 75,386,860 (GRCm39)	T1102S	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sacm1l	T	C	9: 123,389,666 (GRCm39)		probably null	Het
Sema6c	C	A	3: 95,080,129 (GRCm39)	L776M	probably damaging	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Sh2b3	A	T	5: 121,967,111 (GRCm39)	M1K	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spty2d1	T	A	7: 46,643,100 (GRCm39)	M664L	unknown	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Taok3	A	G	5: 117,338,134 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,635,122 (GRCm39)	N562D	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thumpd2	C	T	17: 81,351,557 (GRCm39)	W288*	probably null	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm1	T	C	9: 66,938,322 (GRCm39)	D254G	probably damaging	Het
Usp53	A	T	3: 122,751,223 (GRCm39)	L278*	probably null	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	probably damaging	Het
Zfp777	C	T	6: 48,002,594 (GRCm39)	E543K	probably damaging	Het
Zfp81	A	T	17: 33,553,274 (GRCm39)	C513*	probably null	Het

Other mutations in Hnf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01798:Hnf1a	APN	5	115,091,732 (GRCm39)	missense	probably damaging	1.00
IGL02192:Hnf1a	APN	5	115,098,177 (GRCm39)	missense	probably damaging	1.00
IGL03053:Hnf1a	APN	5	115,108,792 (GRCm39)	missense	probably benign	0.00
R0522:Hnf1a	UTSW	5	115,088,747 (GRCm39)	splice site	probably benign
R0543:Hnf1a	UTSW	5	115,088,803 (GRCm39)	missense	probably benign
R1498:Hnf1a	UTSW	5	115,108,596 (GRCm39)	missense	probably damaging	1.00
R1827:Hnf1a	UTSW	5	115,098,254 (GRCm39)	missense	probably damaging	1.00
R1852:Hnf1a	UTSW	5	115,108,770 (GRCm39)	missense	probably damaging	1.00
R2408:Hnf1a	UTSW	5	115,098,070 (GRCm39)	splice site	probably null
R4050:Hnf1a	UTSW	5	115,108,633 (GRCm39)	missense	probably damaging	1.00
R4627:Hnf1a	UTSW	5	115,093,930 (GRCm39)	missense	probably damaging	1.00
R4859:Hnf1a	UTSW	5	115,093,311 (GRCm39)	missense	possibly damaging	0.84
R4873:Hnf1a	UTSW	5	115,108,732 (GRCm39)	missense	probably benign	0.00
R4875:Hnf1a	UTSW	5	115,108,732 (GRCm39)	missense	probably benign	0.00
R6488:Hnf1a	UTSW	5	115,094,020 (GRCm39)	missense	probably benign
R7134:Hnf1a	UTSW	5	115,091,446 (GRCm39)	missense	probably damaging	1.00
R7999:Hnf1a	UTSW	5	115,098,233 (GRCm39)	nonsense	probably null
R8085:Hnf1a	UTSW	5	115,108,732 (GRCm39)	missense	probably benign	0.00
R8093:Hnf1a	UTSW	5	115,093,336 (GRCm39)	missense	probably benign
R8360:Hnf1a	UTSW	5	115,091,391 (GRCm39)	missense	possibly damaging	0.93
R8539:Hnf1a	UTSW	5	115,108,576 (GRCm39)	critical splice donor site	probably null
R9047:Hnf1a	UTSW	5	115,088,882 (GRCm39)	missense	probably benign
X0067:Hnf1a	UTSW	5	115,093,539 (GRCm39)	missense	possibly damaging	0.52
Z1176:Hnf1a	UTSW	5	115,088,183 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGAAAGTCTGAGGACGCCTTTC -3'
(R):5'- TGTCAGGAAGGGCCATTGAG -3'

Sequencing Primer
(F):5'- CTGGCCCCTCTCAGTCTCATG -3'
(R):5'- ATTGAGCAGACCCGGTCATTG -3'

Posted On

2015-01-23