Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Ptf1a'

180556

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

19450474-19452312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19451431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 254 (C254S)

Ref Sequence

ENSEMBL: ENSMUSP00000028068 (fasta)

Gene Model

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

AlphaFold

Q9QX98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028068
AA Change: C254S

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: C254S

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	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
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
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

Posted On

2014-05-07