Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:Ptf1a'

259009

Institutional Source

Beutler Lab

Gene Symbol

Ptf1a

Ensembl Gene

ENSMUSG00000026735

Gene Name

pancreas specific transcription factor, 1a

Synonyms

bHLHa29, PTF1-p48

MMRRC Submission

040618-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3236 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

19450474-19452312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19450718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 16 (F16S)

Ref Sequence

ENSEMBL: ENSMUSP00000028068 (fasta)

Gene Model

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

AlphaFold

Q9QX98

Predicted Effect

probably damaging
Transcript: ENSMUST00000028068
AA Change: F16S

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

SMART Domains

Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: F16S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122978

Meta Mutation Damage Score

0.1100

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,258,996 (GRCm39)	L255F	probably damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Armh3	A	T	19: 45,963,722 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,391,048 (GRCm39)	D1842V	probably benign	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,397,995 (GRCm39)	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,718,949 (GRCm39)	N268K	unknown	Het
Col6a1	G	A	10: 76,547,154 (GRCm39)	T737M	unknown	Het
Cyp3a25	T	C	5: 145,939,938 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Ecm1	G	T	3: 95,642,158 (GRCm39)	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,781,097 (GRCm39)		probably null	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
Gm5478	A	G	15: 101,552,738 (GRCm39)	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hk1	T	C	10: 62,131,798 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,297,192 (GRCm39)	Y387H	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lrig3	G	A	10: 125,833,056 (GRCm39)	C310Y	probably damaging	Het
Map6	T	A	7: 98,986,031 (GRCm39)	V645E	probably damaging	Het
Memo1	A	T	17: 74,509,347 (GRCm39)	I224K	probably damaging	Het
Morc2a	T	C	11: 3,633,612 (GRCm39)	I602T	probably benign	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,785,957 (GRCm39)	I161F	probably damaging	Het
Notch3	T	C	17: 32,377,435 (GRCm39)	R214G	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or14j10	T	C	17: 37,935,127 (GRCm39)	E133G	possibly damaging	Het
Or4p7	T	C	2: 88,221,750 (GRCm39)	I53T	probably benign	Het
Pdgfra	T	C	5: 75,328,597 (GRCm39)	V243A	probably damaging	Het
Piwil4	A	G	9: 14,611,544 (GRCm39)		probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986 (GRCm39)	N252K	possibly damaging	Het
Rasgrp1	A	G	2: 117,122,293 (GRCm39)	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,225,892 (GRCm39)	V353I	possibly damaging	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf4	T	A	16: 90,057,105 (GRCm39)	D82V	unknown	Het
Serhl	C	A	15: 82,988,604 (GRCm39)	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Sf3b3	A	G	8: 111,538,652 (GRCm39)	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,668,607 (GRCm39)	I453V	probably damaging	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Snrnp200	T	A	2: 127,063,802 (GRCm39)	D660E	probably damaging	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
Speer4e1	T	A	5: 14,984,939 (GRCm39)	E206D	possibly damaging	Het
Stard6	T	A	18: 70,633,557 (GRCm39)	M188K	probably damaging	Het
Stat6	G	A	10: 127,488,091 (GRCm39)	V282I	possibly damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Thsd4	C	A	9: 60,301,670 (GRCm39)	K208N	probably benign	Het
Thsd7b	C	T	1: 130,145,855 (GRCm39)	Q1588*	probably null	Het
Tmem167	C	T	13: 90,252,499 (GRCm39)	R52C	probably benign	Het
Ttn	T	C	2: 76,729,753 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,315,372 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,755,984 (GRCm39)	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,450 (GRCm39)	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	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
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
R7342:Ptf1a	UTSW	2	19,451,977 (GRCm39)	makesense	probably null
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'- AAGCGGGTACTATCCCTCTC -3'
(R):5'- GCAATAGCTGACGTTGTCCTC -3'

Sequencing Primer
(F):5'- GGGTACTATCCCTCTCCAGTG -3'
(R):5'- TGACGTTGTCCTCGGGCTC -3'

Posted On

2015-01-23