Mutagenetix > Incidental Mutation

Incidental Mutation 'R4788:Ptf1a'

367221

Institutional Source

Beutler Lab

Gene Symbol

Ptf1a

Ensembl Gene

ENSMUSG00000026735

Gene Name

pancreas specific transcription factor, 1a

Synonyms

bHLHa29, PTF1-p48

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4788 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

19450474-19452312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19450762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 31 (S31P)

Ref Sequence

ENSEMBL: ENSMUSP00000028068 (fasta)

Gene Model

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

AlphaFold

Q9QX98

Predicted Effect

probably benign
Transcript: ENSMUST00000028068
AA Change: S31P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: S31P

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

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,960,361 (GRCm39)	D815N	probably damaging	Het
Abcc9	A	T	6: 142,566,456 (GRCm39)	C1135*	probably null	Het
Ap3b1	G	A	13: 94,702,149 (GRCm39)	M1067I	unknown	Het
Arhgap15	T	C	2: 43,638,902 (GRCm39)	M1T	probably null	Het
Boc	T	C	16: 44,320,796 (GRCm39)	D288G	probably damaging	Het
Brsk1	G	T	7: 4,701,954 (GRCm39)		probably null	Het
Cabp1	T	C	5: 115,313,530 (GRCm39)	N226S	probably benign	Het
Capn13	A	T	17: 73,644,427 (GRCm39)	Y367*	probably null	Het
Ccdc191	A	G	16: 43,777,185 (GRCm39)	E632G	probably damaging	Het
Cit	T	C	5: 116,071,565 (GRCm39)	S591P	probably damaging	Het
Ckmt1	T	C	2: 121,190,427 (GRCm39)	V118A	possibly damaging	Het
Cndp2	T	C	18: 84,693,289 (GRCm39)	N157S	probably damaging	Het
Col6a3	A	G	1: 90,700,672 (GRCm39)		probably null	Het
Coq2	A	T	5: 100,805,775 (GRCm39)	V287E	probably damaging	Het
Cpa6	T	C	1: 10,478,502 (GRCm39)	K278R	possibly damaging	Het
Cracdl	A	T	1: 37,670,556 (GRCm39)	I128K	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a25	A	T	5: 145,921,892 (GRCm39)	Y347*	probably null	Het
Dcun1d4	G	T	5: 73,691,971 (GRCm39)	W160L	probably damaging	Het
Dennd4c	A	G	4: 86,738,200 (GRCm39)	T994A	probably benign	Het
Dhx57	T	C	17: 80,582,760 (GRCm39)	T229A	probably benign	Het
Dnah6	T	A	6: 73,106,513 (GRCm39)	R1741S	probably damaging	Het
Dock1	T	A	7: 134,747,213 (GRCm39)	V1508D	probably damaging	Het
Donson	T	C	16: 91,484,721 (GRCm39)	T117A	possibly damaging	Het
Dtnb	A	G	12: 3,822,699 (GRCm39)	D533G	probably damaging	Het
Fcrl5	A	G	3: 87,364,495 (GRCm39)	N470S	probably damaging	Het
Focad	T	A	4: 88,275,706 (GRCm39)	V1105E	unknown	Het
Fry	T	C	5: 150,323,101 (GRCm39)	V1084A	probably benign	Het
Gabra1	G	T	11: 42,037,980 (GRCm39)	R213S	probably damaging	Het
Gbp2b	A	C	3: 142,317,171 (GRCm39)	K509T	probably benign	Het
Gprc6a	T	C	10: 51,491,104 (GRCm39)	T811A	probably benign	Het
Hmgcs2	A	G	3: 98,198,400 (GRCm39)	D101G	probably damaging	Het
Ifna11	G	A	4: 88,738,245 (GRCm39)	W17*	probably null	Het
Ighv1-62-3	T	A	12: 115,424,672 (GRCm39)	M100L	probably benign	Het
Lgmn	T	A	12: 102,368,936 (GRCm39)	Y181F	probably benign	Het
Map4k4	T	C	1: 40,043,076 (GRCm39)	S644P	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Nav1	C	T	1: 135,397,461 (GRCm39)	A903T	probably benign	Het
Nop53	T	C	7: 15,676,240 (GRCm39)	E153G	possibly damaging	Het
Nop56	G	T	2: 130,120,820 (GRCm39)	V190L	probably benign	Het
Nyap2	A	T	1: 81,247,112 (GRCm39)	M687L	probably benign	Het
Or4a81	G	A	2: 89,619,480 (GRCm39)	S72F	probably damaging	Het
Or8g17	T	C	9: 38,930,217 (GRCm39)	T207A	probably benign	Het
Or8g26	A	G	9: 39,095,908 (GRCm39)	T145A	probably benign	Het
Osbp2	T	C	11: 3,813,320 (GRCm39)	K183R	probably benign	Het
Pappa2	A	G	1: 158,611,487 (GRCm39)	V1492A	possibly damaging	Het
Pax1	A	G	2: 147,208,124 (GRCm39)	Q244R	possibly damaging	Het
Pcdh9	C	A	14: 94,124,851 (GRCm39)	V317F	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,417 (GRCm39)	Q489L	probably damaging	Het
Poln	A	T	5: 34,286,675 (GRCm39)	S164R	probably benign	Het
Rasal3	A	T	17: 32,618,312 (GRCm39)	D164E	probably benign	Het
Rnf170	A	G	8: 26,630,891 (GRCm39)	E168G	probably damaging	Het
Rubcn	A	G	16: 32,656,778 (GRCm39)		probably null	Het
Sec16b	A	T	1: 157,389,094 (GRCm39)	T830S	possibly damaging	Het
Sel1l3	A	G	5: 53,289,175 (GRCm39)	V882A	probably benign	Het
Sfpq	A	G	4: 126,919,791 (GRCm39)	E512G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,302,518 (GRCm39)	L187P	probably damaging	Het
Skint6	C	T	4: 113,095,533 (GRCm39)	G42D	possibly damaging	Het
Slc7a2	A	G	8: 41,367,023 (GRCm39)	I526V	probably benign	Het
Spmip7	T	C	11: 11,438,652 (GRCm39)		probably null	Het
Ssh2	A	T	11: 77,320,624 (GRCm39)	N328Y	probably damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tom1l2	A	G	11: 60,139,844 (GRCm39)	L275P	probably damaging	Het
Trgv5	A	G	13: 19,376,724 (GRCm39)	K57R	probably benign	Het
Tyrp1	C	T	4: 80,763,180 (GRCm39)	R356*	probably null	Het
Zan	A	G	5: 137,440,375 (GRCm39)	L1953P	unknown	Het
Zfhx3	T	C	8: 109,520,842 (GRCm39)	S655P	probably damaging	Het
Zmym1	T	C	4: 126,948,090 (GRCm39)	T94A	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
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'- TCCAGCAAGCGGGTACTATC -3'
(R):5'- AATAGCTGACGTTGTCCTCGG -3'

Sequencing Primer
(F):5'- AAGCGGGTACTATCCCTCTCCAG -3'
(R):5'- ACGTTGTCCTCGGGCTCG -3'

Posted On

2015-12-29