Mutagenetix > Incidental Mutation

Incidental Mutation 'R7082:Ptf1a'

549580

Institutional Source

Beutler Lab

Gene Symbol

Ptf1a

Ensembl Gene

ENSMUSG00000026735

Gene Name

pancreas specific transcription factor, 1a

Synonyms

bHLHa29, PTF1-p48

MMRRC Submission

045176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19450474-19452312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19450676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

Ref Sequence

ENSEMBL: ENSMUSP00000028068 (fasta)

Gene Model

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

AlphaFold

Q9QX98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028068
AA Change: D2G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: D2G

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: 99.2%

Validation Efficiency

100% (88/88)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,260 (GRCm39)	N109Y	unknown	Het
A430005L14Rik	C	T	4: 154,044,221 (GRCm39)	R11W	probably damaging	Het
Aadacl2	T	A	3: 59,932,306 (GRCm39)	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,602,898 (GRCm39)	R887G	probably benign	Het
Aox4	G	T	1: 58,263,352 (GRCm39)	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,308,567 (GRCm39)	I122T	probably damaging	Het
Batf2	G	T	19: 6,221,405 (GRCm39)	A72S	possibly damaging	Het
Bltp3a	G	T	17: 28,109,039 (GRCm39)	R1086L	probably damaging	Het
Bptf	T	C	11: 106,977,573 (GRCm39)	D749G	probably benign	Het
Cacybp	A	G	1: 160,031,229 (GRCm39)	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,743,869 (GRCm39)	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,619,944 (GRCm39)	D149G	probably benign	Het
Chtop	A	G	3: 90,414,891 (GRCm39)	V9A	probably benign	Het
Cnot9	A	G	1: 74,566,165 (GRCm39)	I185M	probably damaging	Het
Col6a5	A	G	9: 105,808,438 (GRCm39)	I870T	unknown	Het
Cr1l	A	G	1: 194,806,006 (GRCm39)	I159T	probably benign	Het
Cthrc1	T	C	15: 38,940,495 (GRCm39)	S33P	probably benign	Het
Dlg2	T	A	7: 90,381,192 (GRCm39)	W44R	probably benign	Het
Dlgap4	T	C	2: 156,590,342 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,790,096 (GRCm39)	H193R	possibly damaging	Het
Espnl	T	A	1: 91,262,521 (GRCm39)	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,224,512 (GRCm39)	V293I	probably benign	Het
Fam76b	A	G	9: 13,744,308 (GRCm39)	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,793,728 (GRCm39)	I35F	probably benign	Het
Gm9195	T	A	14: 72,680,152 (GRCm39)	Q2219L	probably benign	Het
Gnptg	T	C	17: 25,453,694 (GRCm39)	T283A	probably benign	Het
Grap2	G	A	15: 80,532,699 (GRCm39)	V289M	probably benign	Het
Hk3	T	C	13: 55,154,710 (GRCm39)	T767A	probably benign	Het
Hs3st5	A	G	10: 36,708,833 (GRCm39)	I123V	probably benign	Het
Il6st	A	G	13: 112,640,566 (GRCm39)	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,623,102 (GRCm39)	H398Q	probably damaging	Het
Kcnk1	A	G	8: 126,722,287 (GRCm39)	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,801,633 (GRCm39)	T41A	probably benign	Het
Krt14	G	A	11: 100,094,167 (GRCm39)	H476Y	possibly damaging	Het
Lingo3	G	C	10: 80,671,625 (GRCm39)	R102G	probably benign	Het
Map3k9	G	A	12: 81,771,476 (GRCm39)	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341 (GRCm39)	N5088K	probably benign	Het
Mmp9	T	A	2: 164,790,812 (GRCm39)	S67T	probably benign	Het
Mrps18c	A	G	5: 100,952,270 (GRCm39)	E143G	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Muc21	A	T	17: 35,932,093 (GRCm39)	S698T	unknown	Het
Nags	C	A	11: 102,038,298 (GRCm39)	R335S	possibly damaging	Het
Nars1	A	G	18: 64,637,425 (GRCm39)	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,809 (GRCm39)	V253G	possibly damaging	Het
Nos2	C	A	11: 78,819,405 (GRCm39)	T39K	probably benign	Het
Or10p1	T	A	10: 129,443,416 (GRCm39)	*311Y	probably null	Het
Or10p1	T	A	10: 129,443,417 (GRCm39)	*311L	probably null	Het
Or51t4	T	C	7: 102,598,455 (GRCm39)	V261A	probably damaging	Het
Or52s19	C	A	7: 103,007,495 (GRCm39)	R302L	possibly damaging	Het
Or6c66	C	T	10: 129,461,634 (GRCm39)	V99M	probably benign	Het
Or9s15	G	A	1: 92,524,140 (GRCm39)		probably benign	Het
Panx3	G	A	9: 37,577,913 (GRCm39)	P106S	probably benign	Het
Pappa2	G	A	1: 158,590,689 (GRCm39)	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,400,044 (GRCm39)	D665G	probably damaging	Het
Pde2a	T	C	7: 101,157,303 (GRCm39)	L676P	probably damaging	Het
Pf4	A	G	5: 90,920,851 (GRCm39)	T60A	possibly damaging	Het
Pira12	C	T	7: 3,898,510 (GRCm39)	V313M	probably damaging	Het
Pld5	A	T	1: 175,917,442 (GRCm39)	C164S	probably benign	Het
Psd3	A	T	8: 68,356,800 (GRCm39)	M640K	probably benign	Het
Ptprq	C	T	10: 107,544,591 (GRCm39)	C313Y	probably benign	Het
Ranbp10	A	G	8: 106,500,578 (GRCm39)	S467P	probably damaging	Het
Rap1gap	C	T	4: 137,446,247 (GRCm39)	T333M	probably damaging	Het
Rfpl4	A	G	7: 5,118,558 (GRCm39)	L4P	probably benign	Het
Rgs12	A	G	5: 35,124,050 (GRCm39)	N611S	probably benign	Het
Sacs	C	A	14: 61,447,966 (GRCm39)	N3337K	possibly damaging	Het
Sbno2	A	T	10: 79,895,924 (GRCm39)		probably null	Het
Scrn2	T	A	11: 96,923,908 (GRCm39)	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,338,390 (GRCm39)	I198L	probably benign	Het
Shank2	T	C	7: 143,964,096 (GRCm39)	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,268,767 (GRCm39)	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,688,908 (GRCm39)	E406A	probably damaging	Het
Speg	C	T	1: 75,388,091 (GRCm39)	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,365,160 (GRCm39)	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,328,515 (GRCm39)	Y188N	probably damaging	Het
Sspo	A	T	6: 48,455,543 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,136,703 (GRCm39)	D317V	probably benign	Het
Tmco3	G	T	8: 13,370,847 (GRCm39)	E172*	probably null	Het
Trpc4	G	A	3: 54,206,519 (GRCm39)	W573*	probably null	Het
Ttn	T	C	2: 76,580,340 (GRCm39)	I23518V	probably benign	Het
Tubal3	A	G	13: 3,983,050 (GRCm39)	T277A	possibly damaging	Het
Unc5b	A	T	10: 60,610,867 (GRCm39)	L391H	probably damaging	Het
Vmn2r76	A	G	7: 85,874,440 (GRCm39)	F846L	probably benign	Het
Vps13c	T	A	9: 67,790,735 (GRCm39)	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,309,328 (GRCm39)	S498*	probably null	Het
Zfand4	T	A	6: 116,305,337 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,811,972 (GRCm39)		probably null	Het
Zfp607a	A	T	7: 27,578,183 (GRCm39)	I418F	probably damaging	Het
Zfp612	A	G	8: 110,816,337 (GRCm39)	T515A	probably damaging	Het
Zfp708	G	T	13: 67,219,200 (GRCm39)	L208I	possibly 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
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
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'- ATAAGAATCCTCGCGTGCCG -3'
(R):5'- CGGTAGCAGTATTCGTGTAGC -3'

Sequencing Primer
(F):5'- TCCAGCAAGCGGGTACTATC -3'
(R):5'- GCTGGTGGCTGAGGAAC -3'

Posted On

2019-05-15