Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Hnf1a'

283899

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

115087039-115109121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115098177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 142 (S142T)

Ref Sequence

ENSEMBL: ENSMUSP00000135678 (fasta)

Gene Model

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

AlphaFold

P22361

Predicted Effect

probably damaging
Transcript: ENSMUST00000031535
AA Change: S142T

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556
AA Change: S142T

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 damaging
Transcript: ENSMUST00000176550
AA Change: S142T

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

SMART Domains

Protein: ENSMUSP00000135678
Gene: ENSMUSG00000029556
AA Change: S142T

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	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
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
R2898:Hnf1a	UTSW	5	115,098,106 (GRCm39)	nonsense	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

Posted On

2015-04-16