Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Hnf1a'

314102

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

040968-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115087039-115109121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115108633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 91 (N91Y)

Ref Sequence

ENSEMBL: ENSMUSP00000135539 (fasta)

Gene Model

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

AlphaFold

P22361

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031535
AA Change: N91Y

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556
AA Change: N91Y

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

noncoding transcript
Transcript: ENSMUST00000125010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138108

Predicted Effect

probably damaging
Transcript: ENSMUST00000176550
AA Change: N91Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135678
Gene: ENSMUSG00000029556
AA Change: N91Y

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 damaging
Transcript: ENSMUST00000176911
AA Change: N91Y

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

SMART Domains

Protein: ENSMUSP00000135539
Gene: ENSMUSG00000029556
AA Change: N91Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202592

Meta Mutation Damage Score

0.1743

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,029,449 (GRCm39)	D473G	probably damaging	Het
Abca1	T	A	4: 53,044,144 (GRCm39)	Q1826L	probably damaging	Het
Apob	G	A	12: 8,065,390 (GRCm39)	V4087I	probably benign	Het
Atp10b	G	A	11: 43,150,363 (GRCm39)	A1354T	probably benign	Het
Baz1a	A	G	12: 54,976,404 (GRCm39)	V424A	probably benign	Het
Cdc20b	G	A	13: 113,200,819 (GRCm39)	D180N	probably benign	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Ddb1	A	G	19: 10,605,171 (GRCm39)	D1053G	probably benign	Het
Ddx39a	T	A	8: 84,448,863 (GRCm39)	M246K	probably benign	Het
Dip2a	G	A	10: 76,114,441 (GRCm39)	T1013M	probably damaging	Het
Edar	G	T	10: 58,445,769 (GRCm39)	T265N	possibly damaging	Het
Fcgbpl1	T	C	7: 27,852,410 (GRCm39)	V1311A	possibly damaging	Het
Gbp8	T	A	5: 105,179,104 (GRCm39)	I132F	probably damaging	Het
Gga1	A	G	15: 78,775,691 (GRCm39)	D382G	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm10518	C	A	1: 179,631,378 (GRCm39)		probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
H2-Eb1	T	A	17: 34,533,342 (GRCm39)	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,646,599 (GRCm39)	S95G	probably damaging	Het
Ints10	C	T	8: 69,280,003 (GRCm39)	S710F	probably damaging	Het
Kazn	C	T	4: 141,834,215 (GRCm39)	E614K	unknown	Het
Kif26a	T	A	12: 112,146,350 (GRCm39)	M1812K	probably benign	Het
Lmo7	A	T	14: 102,139,713 (GRCm39)	K488*	probably null	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Met	A	G	6: 17,533,983 (GRCm39)	T645A	probably benign	Het
Mpp4	T	C	1: 59,185,903 (GRCm39)		probably null	Het
Mycl	A	T	4: 122,890,632 (GRCm39)		probably null	Het
Ncbp1	G	A	4: 46,147,483 (GRCm39)	R110H	probably damaging	Het
Nfasc	G	T	1: 132,538,043 (GRCm39)		probably benign	Het
Nup35	A	G	2: 80,486,320 (GRCm39)	I212V	probably benign	Het
Or2y8	T	G	11: 52,035,961 (GRCm39)	Y132S	probably damaging	Het
Or4p20	A	G	2: 88,253,967 (GRCm39)	M134T	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcgf5	G	A	19: 36,420,311 (GRCm39)	S181N	probably damaging	Het
Plk2	C	T	13: 110,536,400 (GRCm39)	T617I	probably damaging	Het
Polq	A	T	16: 36,913,182 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Pramel24	T	C	4: 143,453,692 (GRCm39)	S267P	probably benign	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Prune1	T	C	3: 95,169,542 (GRCm39)	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,004,840 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall3	G	A	18: 81,014,697 (GRCm39)	A1005V	probably benign	Het
Samd15	T	G	12: 87,247,406 (GRCm39)	N30K	probably benign	Het
Scn8a	A	T	15: 100,911,294 (GRCm39)	K905*	probably null	Het
Scrib	G	A	15: 75,923,322 (GRCm39)	R1245W	possibly damaging	Het
Skint4	C	T	4: 111,981,811 (GRCm39)	S260L	probably benign	Het
Slc29a2	A	T	19: 5,079,481 (GRCm39)	M339L	possibly damaging	Het
Slx9	T	C	10: 77,350,164 (GRCm39)	R75G	possibly damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Synpo2	T	C	3: 122,907,927 (GRCm39)	D463G	possibly damaging	Het
Taf4	C	A	2: 179,573,805 (GRCm39)	G688C	probably damaging	Het
Tasor2	A	G	13: 3,623,507 (GRCm39)	S2148P	probably benign	Het
Tpte	T	A	8: 22,856,000 (GRCm39)	V600E	probably damaging	Het
Ttn	A	G	2: 76,651,510 (GRCm39)	V10953A	probably benign	Het
Vav2	T	C	2: 27,178,691 (GRCm39)	Y333C	probably benign	Het
Vav2	A	G	2: 27,181,415 (GRCm39)	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,327,000 (GRCm39)	M1R	probably null	Het
Zfp26	G	A	9: 20,353,525 (GRCm39)	P88L	probably benign	Het
Zfp324	T	C	7: 12,704,794 (GRCm39)	F328L	probably damaging	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
R2898:Hnf1a	UTSW	5	115,098,106 (GRCm39)	nonsense	probably null
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'- TGAAGACCACAGCTCCTAAGG -3'
(R):5'- CCATGGTTTCTAAGCTGAGCCAG -3'

Sequencing Primer
(F):5'- TCCTAAGGCCCCCTAGACG -3'
(R):5'- CTGAGCAAAGAGGCCCTGATC -3'

Posted On

2015-04-30