Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01771:Ppwd1'

153840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppwd1

Ensembl Gene

ENSMUSG00000021713

Gene Name

peptidylprolyl isomerase domain and WD repeat containing 1

Synonyms

4632422M10Rik, A330090G21Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL01771

Quality Score

Status

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104217116 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 378 (I378T)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022226]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022226
AA Change: I378T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I378T

Domain	Start	End	E-Value	Type
WD40	80	117	2.96e-2	SMART
WD40	122	161	8.49e-3	SMART
Blast:WD40	164	207	9e-6	BLAST
WD40	211	251	2.76e0	SMART
WD40	269	308	1.4e-3	SMART
Blast:WD40	343	382	2e-6	BLAST
Blast:WD40	433	460	3e-7	BLAST
Pfam:Pro_isomerase	493	645	1.9e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225798

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn10	T	A	1: 92,940,365	W185R	probably damaging	Het
Frmd8	A	G	19: 5,869,575	L148P	probably damaging	Het
Gk5	T	C	9: 96,177,435	C447R	probably damaging	Het
Hip1r	T	A	5: 123,999,543	V704D	possibly damaging	Het
Kcnj10	C	A	1: 172,369,583	H221Q	probably benign	Het
Klk1b8	A	T	7: 43,954,866	I253L	probably damaging	Het
Olfr1090	C	T	2: 86,754,282	C152Y	probably benign	Het
Olfr204	T	C	16: 59,314,528	N293S	probably damaging	Het
Olfr389	A	T	11: 73,776,664	I221N	probably damaging	Het
Olfr431-ps1	T	C	1: 174,051,321		probably benign	Het
Olfr51	A	G	11: 51,007,766	T265A	probably benign	Het
Pdp2	A	T	8: 104,594,122	Y201F	probably benign	Het
Ppfia1	A	T	7: 144,482,357	I1112K	probably benign	Het
Rhbdd1	T	A	1: 82,377,592	D248E	probably benign	Het
Sec14l5	T	C	16: 5,178,630		probably null	Het
Sel1l3	T	G	5: 53,121,841	D960A	probably damaging	Het
Slc35f3	T	C	8: 126,389,212	Y293H	probably benign	Het
Wwc1	A	G	11: 35,853,358		probably null	Het
Zan	T	C	5: 137,393,068	N4718S	unknown	Het
Zfyve16	T	C	13: 92,522,172	I410M	probably benign	Het

Other mutations in Ppwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ppwd1	APN	13	104217143	missense	probably damaging	1.00
IGL01582:Ppwd1	APN	13	104213704	missense	probably benign	0.01
IGL01697:Ppwd1	APN	13	104220464	missense	probably benign	0.01
IGL02414:Ppwd1	APN	13	104223137	missense	probably benign
IGL02803:Ppwd1	APN	13	104213684	missense	probably benign	0.00
IGL02873:Ppwd1	APN	13	104209753	missense	probably damaging	1.00
F5770:Ppwd1	UTSW	13	104220237	missense	probably damaging	0.98
R0462:Ppwd1	UTSW	13	104222960	critical splice acceptor site	probably null
R1638:Ppwd1	UTSW	13	104220263	missense	probably damaging	1.00
R2211:Ppwd1	UTSW	13	104207142	missense	probably benign	0.26
R2226:Ppwd1	UTSW	13	104217245	missense	probably damaging	1.00
R2299:Ppwd1	UTSW	13	104220063	missense	probably benign
R2353:Ppwd1	UTSW	13	104213582	missense	probably benign
R2382:Ppwd1	UTSW	13	104207113	missense	probably damaging	1.00
R3123:Ppwd1	UTSW	13	104213690	missense	possibly damaging	0.90
R4521:Ppwd1	UTSW	13	104209659	missense	probably benign	0.16
R4972:Ppwd1	UTSW	13	104220108	missense	probably benign	0.00
R5125:Ppwd1	UTSW	13	104220435	missense	probably benign	0.14
R5178:Ppwd1	UTSW	13	104220435	missense	probably benign	0.14
R5468:Ppwd1	UTSW	13	104225444	missense	possibly damaging	0.52
R5638:Ppwd1	UTSW	13	104220398	missense	probably damaging	1.00
R6748:Ppwd1	UTSW	13	104208030	nonsense	probably null
R7095:Ppwd1	UTSW	13	104205626	missense	probably benign	0.21
R7201:Ppwd1	UTSW	13	104207172	missense	probably damaging	1.00
R7206:Ppwd1	UTSW	13	104213598	missense	probably damaging	0.99
R7664:Ppwd1	UTSW	13	104220290	missense	probably damaging	1.00
R7746:Ppwd1	UTSW	13	104217206	missense	probably damaging	1.00
V7580:Ppwd1	UTSW	13	104220237	missense	probably damaging	0.98
V7581:Ppwd1	UTSW	13	104220237	missense	probably damaging	0.98

Posted On

2014-02-04