Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01582:Ppwd1'

91393

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: 0.961) question?

Stock #

IGL01582

Quality Score

Status

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104213704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 391 (I391T)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

AlphaFold

Q8CEC6

Predicted Effect

probably benign
Transcript: ENSMUST00000022226
AA Change: I391T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I391T

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

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
Aurkb	G	A	11: 69,048,779	V201I	probably damaging	Het
Csmd2	G	T	4: 128,563,305	E212*	probably null	Het
Dsg1a	G	T	18: 20,328,848	K335N	probably null	Het
Epn2	A	G	11: 61,521,869	S430P	probably benign	Het
Ezh2	A	T	6: 47,556,055	Y144*	probably null	Het
Fcgbp	G	T	7: 28,093,642	D1024Y	probably benign	Het
Gm8906	A	G	5: 11,505,273	T70A	probably benign	Het
Gramd3	A	G	18: 56,485,416	E232G	probably damaging	Het
Inf2	A	G	12: 112,610,559	K989R	unknown	Het
Lrpprc	G	A	17: 84,754,543	A577V	probably null	Het
Mansc1	T	A	6: 134,621,873	N27I	possibly damaging	Het
Nr1i3	A	T	1: 171,214,972	I56F	possibly damaging	Het
Ntpcr	T	C	8: 125,745,242	S64P	probably benign	Het
Olfr603	A	T	7: 103,383,599	Y134*	probably null	Het
Serpinb3d	A	G	1: 107,079,666	F197L	probably damaging	Het
Siglecf	A	G	7: 43,358,721	N553D	possibly damaging	Het
Slc2a2	A	G	3: 28,708,488	D60G	probably benign	Het
Spsb4	T	G	9: 96,996,090	D60A	probably damaging	Het
Tnnt1	T	C	7: 4,509,983	E100G	probably damaging	Het
Zmiz1	T	C	14: 25,658,230	M938T	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
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

2013-12-09