Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00321:Ppwd1'

13699

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

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL00321

Quality Score

Status

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104217143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 369 (F369S)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

AlphaFold

Q8CEC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022226
AA Change: F369S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: F369S

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	G	8: 40,826,746	R725G	possibly damaging	Het
Arid2	A	G	15: 96,289,089	E74G	probably damaging	Het
Carf	T	A	1: 60,124,842		probably benign	Het
Cit	A	T	5: 115,846,465	Q32L	probably damaging	Het
Dennd4b	A	G	3: 90,271,207	T526A	possibly damaging	Het
Dnhd1	A	G	7: 105,677,995	E717G	probably damaging	Het
Ercc6	T	A	14: 32,568,072	I968N	probably damaging	Het
Fcrl1	A	T	3: 87,389,635	Y297F	probably damaging	Het
Gas2l3	A	G	10: 89,413,627	L543P	probably benign	Het
Gm5346	A	G	8: 43,625,381	I602T	probably benign	Het
Hid1	A	T	11: 115,359,069	D84E	probably benign	Het
Ifit1bl2	C	T	19: 34,619,919	S99N	probably benign	Het
Kpna3	A	G	14: 61,391,853		probably benign	Het
Myadm	C	A	7: 3,297,223	P167Q	possibly damaging	Het
Ociad1	C	T	5: 73,304,543		probably benign	Het
Olfr224	A	C	11: 58,566,767	Y193D	probably damaging	Het
Pcdh11x	A	T	X: 120,592,568	K1029N	probably benign	Het
Pcdhb11	A	G	18: 37,421,973	T119A	probably benign	Het
Phldb2	T	C	16: 45,772,254	R926G	probably damaging	Het
Rreb1	T	A	13: 37,916,496	M201K	probably benign	Het
Ryr1	A	T	7: 29,102,810	I795N	probably damaging	Het
Slc3a1	T	C	17: 85,060,833	W510R	probably damaging	Het
Slc44a5	T	C	3: 154,262,939	L589P	probably damaging	Het
Tfr2	A	G	5: 137,574,455	D176G	probably null	Het
Tom1	T	A	8: 75,052,174	S24T	probably benign	Het
Vmn2r66	T	A	7: 85,007,091	Q239L	probably benign	Het
Ythdc2	A	G	18: 44,859,973	T149A	probably benign	Het
Zc3h3	A	G	15: 75,779,313	I686T	probably damaging	Het

Other mutations in Ppwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Ppwd1	APN	13	104213704	missense	probably benign	0.01
IGL01697:Ppwd1	APN	13	104220464	missense	probably benign	0.01
IGL01771:Ppwd1	APN	13	104217116	missense	probably damaging	1.00
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
R9259:Ppwd1	UTSW	13	104223104	missense	probably damaging	1.00
R9354:Ppwd1	UTSW	13	104205572	missense	probably benign	0.00
R9408:Ppwd1	UTSW	13	104209647	missense	possibly damaging	0.74
V7580:Ppwd1	UTSW	13	104220237	missense	probably damaging	0.98
V7581:Ppwd1	UTSW	13	104220237	missense	probably damaging	0.98

Posted On

2012-12-06