Mutagenetix > Incidental Mutation

Incidental Mutation 'R7342:Ptf1a'

569909

Institutional Source

Beutler Lab

Gene Symbol

Ptf1a

Ensembl Gene

ENSMUSG00000026735

Gene Name

pancreas specific transcription factor, 1a

Synonyms

bHLHa29, PTF1-p48

MMRRC Submission

045432-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19450474-19452312 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 19451977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 325 (*325W)

Ref Sequence

ENSEMBL: ENSMUSP00000028068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028068]

AlphaFold

Q9QX98

Predicted Effect

probably null
Transcript: ENSMUST00000028068
AA Change: *325W

SMART Domains

Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: *325W

Domain	Start	End	E-Value	Type
low complexity region	66	86	N/A	INTRINSIC
low complexity region	131	151	N/A	INTRINSIC
HLH	166	218	6.65e-20	SMART
low complexity region	221	240	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show neonatal death, exocrine pancreas and cerebellum agenesis, hypoglycemia and relocation of endocrine cells to the spleen. Knock-in mutations can lead to neonatal death, absent pancreas, altered GABAergic neuronal fate and retinal dysplasia due to misspecified retinal precursors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	G	11: 101,308,018 (GRCm39)	T28P	probably benign	Het
Abcc1	C	A	16: 14,283,033 (GRCm39)	R1170S	probably damaging	Het
Adam8	T	C	7: 139,566,304 (GRCm39)	N568S	probably benign	Het
Arhgap17	T	C	7: 122,926,467 (GRCm39)	R65G	probably damaging	Het
Arid4b	A	C	13: 14,310,804 (GRCm39)	I136L	probably benign	Het
Ash1l	G	T	3: 88,873,304 (GRCm39)	G29V	possibly damaging	Het
Atp6v0a2	A	G	5: 124,784,676 (GRCm39)	T320A	probably damaging	Het
B4gat1	G	A	19: 5,089,686 (GRCm39)	V228M	probably benign	Het
Calcr	T	A	6: 3,691,536 (GRCm39)	H450L	probably benign	Het
Cand1	A	T	10: 119,047,692 (GRCm39)	N599K	possibly damaging	Het
Cblif	A	T	19: 11,740,587 (GRCm39)	H407L	probably benign	Het
Cel	A	T	2: 28,450,649 (GRCm39)	Y125*	probably null	Het
Cfi	T	A	3: 129,668,781 (GRCm39)	N602K	probably damaging	Het
Clstn1	G	A	4: 149,713,887 (GRCm39)	A190T	probably damaging	Het
Cmklr1	C	T	5: 113,752,354 (GRCm39)	V216M	probably benign	Het
Cntnap5a	A	G	1: 115,987,852 (GRCm39)	T128A	probably benign	Het
Creld2	A	G	15: 88,710,610 (GRCm39)	T342A	probably benign	Het
Ctbp2	T	C	7: 132,616,041 (GRCm39)	E298G	probably damaging	Het
Ctsh	A	T	9: 89,957,040 (GRCm39)	E307V	probably benign	Het
Cxcl10	T	A	5: 92,496,029 (GRCm39)	D36V	probably benign	Het
Dgkb	A	G	12: 38,150,432 (GRCm39)	T73A	probably benign	Het
Dnah3	T	G	7: 119,629,208 (GRCm39)	E1449A	probably damaging	Het
Dpp6	T	C	5: 27,919,552 (GRCm39)	M683T	probably benign	Het
Foxn4	C	A	5: 114,396,760 (GRCm39)	W241L	probably damaging	Het
Gosr1	T	C	11: 76,621,033 (GRCm39)	I219V	probably benign	Het
Gtf2f2	T	C	14: 76,144,317 (GRCm39)	D179G	probably damaging	Het
Ighg2b	A	G	12: 113,270,050 (GRCm39)	Y323H		Het
Itpr2	A	T	6: 146,228,685 (GRCm39)	H1303Q	probably damaging	Het
Kif1b	A	C	4: 149,298,547 (GRCm39)	Y1040D	possibly damaging	Het
Lbr	C	T	1: 181,653,186 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,309,634 (GRCm39)	V2755A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrcc1	T	A	3: 14,619,431 (GRCm39)	C606S	probably benign	Het
Macf1	T	C	4: 123,275,917 (GRCm39)	E6217G	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo9b	T	C	8: 71,808,418 (GRCm39)	V1687A	probably damaging	Het
Naip2	A	T	13: 100,325,864 (GRCm39)	F15I	probably benign	Het
Neb	A	T	2: 52,171,679 (GRCm39)	S1605T	probably damaging	Het
Nuak1	T	C	10: 84,210,831 (GRCm39)	E419G	probably damaging	Het
Or14a260	G	A	7: 85,985,295 (GRCm39)	T103I	probably benign	Het
Or8c18	A	G	9: 38,203,574 (GRCm39)	Y111C	probably damaging	Het
Paip2b	T	A	6: 83,791,808 (GRCm39)	S25C	probably damaging	Het
Pgbd5	G	A	8: 125,160,709 (GRCm39)	R53C	probably benign	Het
Plin4	T	C	17: 56,411,608 (GRCm39)	T808A	probably benign	Het
Pramel11	A	T	4: 143,623,520 (GRCm39)	I218K	probably benign	Het
Prex2	A	G	1: 11,232,549 (GRCm39)	D872G	probably benign	Het
Ptprg	T	C	14: 12,237,151 (GRCm38)	V1390A	possibly damaging	Het
Rhpn2	A	G	7: 35,033,771 (GRCm39)	T2A	probably damaging	Het
Rpl18a	T	C	8: 71,348,042 (GRCm39)	N214D	unknown	Het
Scp2	T	A	4: 107,948,518 (GRCm39)	Y197F	probably benign	Het
Sftpb	G	A	6: 72,286,858 (GRCm39)	R254H	probably benign	Het
Slc17a9	T	C	2: 180,378,555 (GRCm39)	L246P	probably damaging	Het
Slc38a9	G	T	13: 112,806,125 (GRCm39)		probably benign	Het
Slc4a1ap	C	T	5: 31,693,634 (GRCm39)	L523F	possibly damaging	Het
Spats2l	C	A	1: 57,925,106 (GRCm39)	T168K	possibly damaging	Het
Sstr1	A	G	12: 58,260,456 (GRCm39)	S360G	possibly damaging	Het
Taf1b	A	T	12: 24,608,343 (GRCm39)	K581*	probably null	Het
Tfip11	T	A	5: 112,475,838 (GRCm39)	M1K	probably null	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Ttc23l	G	A	15: 10,551,583 (GRCm39)	H48Y	probably benign	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Unc13b	T	C	4: 43,258,703 (GRCm39)	L1346P	probably damaging	Het
Vmac	T	C	17: 57,022,644 (GRCm39)	E122G	probably benign	Het
Vmn2r125	T	C	4: 156,703,138 (GRCm39)	V172A	probably damaging	Het
Zfp54	A	G	17: 21,648,014 (GRCm39)		probably benign	Het

Other mutations in Ptf1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Ptf1a	APN	2	19,451,429 (GRCm39)	missense	probably damaging	1.00
IGL01934:Ptf1a	APN	2	19,451,431 (GRCm39)	missense	possibly damaging	0.60
IGL03153:Ptf1a	APN	2	19,451,456 (GRCm39)	splice site	probably benign
R3236:Ptf1a	UTSW	2	19,450,718 (GRCm39)	missense	probably damaging	1.00
R4170:Ptf1a	UTSW	2	19,451,819 (GRCm39)	missense	possibly damaging	0.95
R4451:Ptf1a	UTSW	2	19,451,092 (GRCm39)	missense	possibly damaging	0.71
R4452:Ptf1a	UTSW	2	19,451,092 (GRCm39)	missense	possibly damaging	0.71
R4788:Ptf1a	UTSW	2	19,450,762 (GRCm39)	missense	probably benign	0.05
R5533:Ptf1a	UTSW	2	19,451,969 (GRCm39)	missense	probably damaging	1.00
R6513:Ptf1a	UTSW	2	19,451,848 (GRCm39)	missense	probably damaging	1.00
R7082:Ptf1a	UTSW	2	19,450,676 (GRCm39)	missense	possibly damaging	0.73
R8215:Ptf1a	UTSW	2	19,450,760 (GRCm39)	missense	possibly damaging	0.88
R8394:Ptf1a	UTSW	2	19,450,746 (GRCm39)	missense	probably damaging	1.00
R9037:Ptf1a	UTSW	2	19,451,036 (GRCm39)	missense	possibly damaging	0.90
R9178:Ptf1a	UTSW	2	19,450,536 (GRCm39)	start gained	probably benign
R9766:Ptf1a	UTSW	2	19,451,062 (GRCm39)	missense	probably benign	0.18
R9784:Ptf1a	UTSW	2	19,451,381 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGACCATGGGCAAGTTTTG -3'
(R):5'- TCTGTCAAAGGTGCTTCAGG -3'

Sequencing Primer
(F):5'- CCAGTGACCCGGATTATGG -3'
(R):5'- CTGTCAAAGGTGCTTCAGGAAATC -3'

Posted On

2019-09-13