Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02873:Ppwd1'

362614

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: 0.956) question?

Stock #

IGL02873

Quality Score

Status

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104209753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 465 (D465Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

AlphaFold

Q8CEC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022226
AA Change: D465Y

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

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: D465Y

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,040	L528P	probably damaging	Het
4933405O20Rik	A	T	7: 50,599,683	H155L	probably damaging	Het
5830462I19Rik	G	A	9: 110,374,378		probably benign	Het
Ankib1	T	A	5: 3,772,619	Q29L	probably damaging	Het
Arid5b	A	T	10: 68,101,950	M449K	probably benign	Het
Atp1a1	A	G	3: 101,576,578	V1017A	probably benign	Het
Cfap52	G	T	11: 67,931,782	T421K	probably damaging	Het
Chd8	A	T	14: 52,222,513	I780N	probably damaging	Het
Cubn	T	C	2: 13,294,370	D3164G	probably benign	Het
Cyp4f37	A	T	17: 32,625,168	Q82L	probably benign	Het
Eml6	T	A	11: 29,880,700	D265V	probably benign	Het
Gm14393	T	C	2: 175,061,802	D104G	possibly damaging	Het
Gpat2	T	C	2: 127,431,755	V271A	probably benign	Het
Ifna4	T	C	4: 88,842,186	F109S	probably damaging	Het
Il27ra	T	C	8: 84,031,535	S529G	probably benign	Het
Jag2	A	G	12: 112,910,502	L1011P	probably benign	Het
Kif7	A	G	7: 79,706,759	L728P	probably damaging	Het
Klhl21	T	C	4: 152,015,360	V509A	probably benign	Het
Map2k4	T	A	11: 65,719,574	N92I	probably damaging	Het
Myo15	A	T	11: 60,483,482	D1288V	probably damaging	Het
Olfr1002	C	A	2: 85,647,752	A190S	possibly damaging	Het
Olfr1281	T	C	2: 111,328,872	V151A	probably benign	Het
Paip1	T	A	13: 119,445,812	F275L	possibly damaging	Het
Plxnd1	T	C	6: 115,959,976	D1624G	probably damaging	Het
Rftn1	A	C	17: 50,169,152		probably benign	Het
Scn1b	T	A	7: 31,117,757	Y180F	probably damaging	Het
Slc16a4	A	G	3: 107,300,795	D207G	probably benign	Het
Slc2a3	T	C	6: 122,740,414	T28A	probably damaging	Het
Slc47a1	G	A	11: 61,362,817		probably benign	Het
Spata1	A	T	3: 146,487,367	V123D	possibly damaging	Het
Stard9	T	C	2: 120,713,807	V4469A	probably damaging	Het
Trmu	T	A	15: 85,896,832		probably null	Het
Trrap	T	A	5: 144,841,079		probably benign	Het
Ttn	T	C	2: 76,896,131		probably benign	Het
Tubgcp6	T	C	15: 89,103,824	D974G	probably benign	Het
Tyw1	C	T	5: 130,335,330	R621C	probably benign	Het
Usp7	A	T	16: 8,695,194		probably benign	Het
Zfp39	T	C	11: 58,891,022	K305E	probably benign	Het
Zfp692	C	T	11: 58,308,939	T118M	probably damaging	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
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
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

2015-12-18