Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03384:Ppdpf'

420820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppdpf

Ensembl Gene

ENSMUSG00000016344

Gene Name

pancreatic progenitor cell differentiation and proliferation factor

Synonyms

2700038C09Rik, 0610012G23Rik, 3110053G12Rik, 2610317A05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03384

Quality Score

Status

Chromosome

Chromosomal Location

180829040-180830564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180829673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 43 (S43P)

Ref Sequence

ENSEMBL: ENSMUSP00000104469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016488] [ENSMUST00000108841]

AlphaFold

Q9CR37

Predicted Effect

probably benign
Transcript: ENSMUST00000016488
AA Change: S43P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016488
Gene: ENSMUSG00000016344
AA Change: S43P

Domain	Start	End	E-Value	Type
Pfam:PPDFL	1	111	4.2e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108841
AA Change: S43P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104469
Gene: ENSMUSG00000016344
AA Change: S43P

Domain	Start	End	E-Value	Type
Pfam:PPDFL	1	112	1.1e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146089

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,086,673 (GRCm39)	I246T	possibly damaging	Het
Ablim2	C	T	5: 36,032,216 (GRCm39)	R614C	probably damaging	Het
B4galt7	T	C	13: 55,757,102 (GRCm39)	L265P	probably damaging	Het
Col4a4	C	T	1: 82,462,159 (GRCm39)	C1072Y	probably benign	Het
Cxcr2	T	C	1: 74,197,950 (GRCm39)	V148A	probably damaging	Het
Dnah14	G	A	1: 181,573,514 (GRCm39)	V2942M	probably benign	Het
Fam124b	T	A	1: 80,177,673 (GRCm39)	H442L	probably benign	Het
Haus6	T	C	4: 86,501,762 (GRCm39)	H703R	probably benign	Het
Ice1	T	C	13: 70,751,368 (GRCm39)	T1573A	probably benign	Het
Iftap	G	T	2: 101,415,608 (GRCm39)	T115N	probably benign	Het
Ighv1-31	A	G	12: 114,793,093 (GRCm39)	F48L	probably benign	Het
Iws1	C	A	18: 32,226,203 (GRCm39)	A697D	probably damaging	Het
Jhy	T	A	9: 40,872,228 (GRCm39)	N94Y	probably benign	Het
Kank2	C	T	9: 21,685,874 (GRCm39)	V667M	possibly damaging	Het
Mcam	G	A	9: 44,051,809 (GRCm39)		probably benign	Het
Muc5ac	A	T	7: 141,366,140 (GRCm39)	I2099F	possibly damaging	Het
Myo7a	T	C	7: 97,742,800 (GRCm39)	I410V	probably damaging	Het
Nub1	A	T	5: 24,902,425 (GRCm39)		probably benign	Het
Nub1	A	T	5: 24,902,424 (GRCm39)		probably null	Het
Or10g9b	T	C	9: 39,917,766 (GRCm39)	T160A	probably benign	Het
Panx2	C	T	15: 88,952,322 (GRCm39)	A271V	possibly damaging	Het
Papss1	T	A	3: 131,285,113 (GRCm39)	H13Q	probably damaging	Het
Pkd1	A	G	17: 24,784,871 (GRCm39)	T438A	probably benign	Het
Ptchd4	T	A	17: 42,813,481 (GRCm39)	C461S	probably damaging	Het
Rapgef2	A	G	3: 78,990,853 (GRCm39)	F985S	probably damaging	Het
Rbm25	T	C	12: 83,706,297 (GRCm39)	I214T	probably benign	Het
Sgpp1	T	C	12: 75,762,880 (GRCm39)		probably benign	Het
Slc22a20	A	T	19: 6,030,402 (GRCm39)	C343*	probably null	Het
Slc22a22	T	C	15: 57,117,612 (GRCm39)	I310V	probably benign	Het
Slc6a13	T	C	6: 121,309,350 (GRCm39)	F287S	probably damaging	Het
Usp30	A	G	5: 114,259,635 (GRCm39)	D447G	probably damaging	Het
Vmn1r78	A	T	7: 11,887,136 (GRCm39)	Y249F	possibly damaging	Het
Vmn2r106	T	C	17: 20,488,405 (GRCm39)	T665A	probably damaging	Het
Vps37b	A	G	5: 124,145,670 (GRCm39)		probably null	Het
Wfdc1	T	A	8: 120,413,016 (GRCm39)	N198K	probably benign	Het

Other mutations in Ppdpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Ppdpf	APN	2	180,829,687 (GRCm39)	splice site	probably benign
IGL03238:Ppdpf	APN	2	180,829,673 (GRCm39)	missense	probably benign
IGL03240:Ppdpf	APN	2	180,829,673 (GRCm39)	missense	probably benign
R3917:Ppdpf	UTSW	2	180,829,521 (GRCm39)	missense	probably benign	0.19
R6148:Ppdpf	UTSW	2	180,829,641 (GRCm39)	missense	probably benign	0.01
R7134:Ppdpf	UTSW	2	180,829,523 (GRCm39)	missense	probably damaging	1.00
R7950:Ppdpf	UTSW	2	180,829,650 (GRCm39)	missense	probably benign	0.02
R8790:Ppdpf	UTSW	2	180,829,646 (GRCm39)	nonsense	probably null
R9608:Ppdpf	UTSW	2	180,829,668 (GRCm39)	missense	probably benign

Posted On

2016-08-02