Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02803:Ppwd1'

360307

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: 0.956) question?

Stock #

IGL02803

Quality Score

Status

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104213684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 398 (I398V)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

AlphaFold

Q8CEC6

Predicted Effect

probably benign
Transcript: ENSMUST00000022226
AA Change: I398V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I398V

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmo	C	T	12: 37,252,481	L106F	probably benign	Het
Appl1	A	G	14: 26,951,516	I208T	possibly damaging	Het
Arap2	G	T	5: 62,749,109	A189D	probably benign	Het
Arhgef12	T	C	9: 42,972,028	K1402E	possibly damaging	Het
C7	A	C	15: 5,049,560	F89V	probably damaging	Het
Camsap2	G	A	1: 136,281,123	T877I	probably damaging	Het
Cpt2	T	C	4: 107,907,386	T394A	probably benign	Het
Csnk2a1	G	T	2: 152,274,085		probably benign	Het
Dnah10	C	A	5: 124,798,014	T2528N	probably damaging	Het
Entpd8	G	T	2: 25,085,139	W494L	probably damaging	Het
Fam114a1	T	A	5: 65,005,792		probably benign	Het
Fat4	T	C	3: 38,889,295	V779A	probably damaging	Het
Gckr	T	C	5: 31,298,204	S34P	probably damaging	Het
Golga4	T	C	9: 118,535,460	V297A	probably benign	Het
Gpr65	T	C	12: 98,275,210	S41P	probably damaging	Het
Gps1	G	T	11: 120,786,823	A221S	probably damaging	Het
Heatr1	T	A	13: 12,433,986	S1861T	probably damaging	Het
Hmces	A	G	6: 87,925,729	E184G	probably damaging	Het
Itfg1	T	C	8: 85,725,511		probably null	Het
Mkl2	C	T	16: 13,403,156	T743I	possibly damaging	Het
Nfe2l3	A	G	6: 51,457,311	S284G	possibly damaging	Het
Nlrp2	C	A	7: 5,328,318	A360S	probably damaging	Het
Nop9	A	G	14: 55,750,076	H298R	probably benign	Het
Olfr1434	A	T	19: 12,283,983	S312C	possibly damaging	Het
Olfr183	T	A	16: 58,999,958	V91E	probably benign	Het
Olfr522	T	C	7: 140,162,374	D192G	possibly damaging	Het
Osgin1	A	G	8: 119,443,267	M158V	probably benign	Het
Patj	C	A	4: 98,426,064	Q374K	probably damaging	Het
Pck1	G	T	2: 173,156,004	G289W	probably damaging	Het
Phkg1	T	G	5: 129,866,054	I219L	possibly damaging	Het
Ppp1r15b	G	A	1: 133,133,343	A533T	probably damaging	Het
Prkdc	A	G	16: 15,833,666		probably benign	Het
Psg25	G	A	7: 18,526,287	L229F	possibly damaging	Het
Rps6ka1	T	A	4: 133,880,954	Q24L	probably benign	Het
Sgk3	T	C	1: 9,879,048	I147T	possibly damaging	Het
Slc25a24	T	A	3: 109,155,071	I159N	probably damaging	Het
Slc26a4	T	C	12: 31,522,527		probably null	Het
Slc35f4	T	C	14: 49,304,257	I347V	probably benign	Het
Spag17	A	T	3: 100,109,397	M2163L	probably benign	Het
Stab2	C	T	10: 86,950,269		probably benign	Het
Sult2a8	G	A	7: 14,411,705		probably benign	Het
Syne2	T	C	12: 76,031,546	L4718P	probably damaging	Het
Timd4	G	T	11: 46,815,694	G108W	probably damaging	Het
Timm9	T	C	12: 71,126,374		probably benign	Het
Vmn2r98	G	A	17: 19,066,013	V258I	probably benign	Het
Zcchc9	C	T	13: 91,800,881	V174I	probably benign	Het
Zdbf2	T	C	1: 63,303,077	V205A	possibly 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
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

2015-12-18