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: 0.952) question?

Stock #

IGL02803

Quality Score

Status

Chromosome

Chromosomal Location

104341632-104365351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104350192 bp (GRCm39)

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: 37,302,480 (GRCm39)	L106F	probably benign	Het
Appl1	A	G	14: 26,673,473 (GRCm39)	I208T	possibly damaging	Het
Arap2	G	T	5: 62,906,452 (GRCm39)	A189D	probably benign	Het
Arhgef12	T	C	9: 42,883,324 (GRCm39)	K1402E	possibly damaging	Het
C7	A	C	15: 5,079,042 (GRCm39)	F89V	probably damaging	Het
Camsap2	G	A	1: 136,208,861 (GRCm39)	T877I	probably damaging	Het
Cpt2	T	C	4: 107,764,583 (GRCm39)	T394A	probably benign	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Dnah10	C	A	5: 124,875,078 (GRCm39)	T2528N	probably damaging	Het
Entpd8	G	T	2: 24,975,151 (GRCm39)	W494L	probably damaging	Het
Fam114a1	T	A	5: 65,163,135 (GRCm39)		probably benign	Het
Fat4	T	C	3: 38,943,444 (GRCm39)	V779A	probably damaging	Het
Gckr	T	C	5: 31,455,548 (GRCm39)	S34P	probably damaging	Het
Golga4	T	C	9: 118,364,528 (GRCm39)	V297A	probably benign	Het
Gpr65	T	C	12: 98,241,469 (GRCm39)	S41P	probably damaging	Het
Gps1	G	T	11: 120,677,649 (GRCm39)	A221S	probably damaging	Het
Heatr1	T	A	13: 12,448,867 (GRCm39)	S1861T	probably damaging	Het
Hmces	A	G	6: 87,902,711 (GRCm39)	E184G	probably damaging	Het
Itfg1	T	C	8: 86,452,140 (GRCm39)		probably null	Het
Mrtfb	C	T	16: 13,221,020 (GRCm39)	T743I	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,291 (GRCm39)	S284G	possibly damaging	Het
Nlrp2	C	A	7: 5,331,317 (GRCm39)	A360S	probably damaging	Het
Nop9	A	G	14: 55,987,533 (GRCm39)	H298R	probably benign	Het
Or5an1	A	T	19: 12,261,347 (GRCm39)	S312C	possibly damaging	Het
Or5h17	T	A	16: 58,820,321 (GRCm39)	V91E	probably benign	Het
Or6ae1	T	C	7: 139,742,287 (GRCm39)	D192G	possibly damaging	Het
Osgin1	A	G	8: 120,170,006 (GRCm39)	M158V	probably benign	Het
Patj	C	A	4: 98,314,301 (GRCm39)	Q374K	probably damaging	Het
Pck1	G	T	2: 172,997,797 (GRCm39)	G289W	probably damaging	Het
Phkg1	T	G	5: 129,894,895 (GRCm39)	I219L	possibly damaging	Het
Ppp1r15b	G	A	1: 133,061,081 (GRCm39)	A533T	probably damaging	Het
Prkdc	A	G	16: 15,651,530 (GRCm39)		probably benign	Het
Psg25	G	A	7: 18,260,212 (GRCm39)	L229F	possibly damaging	Het
Rps6ka1	T	A	4: 133,608,265 (GRCm39)	Q24L	probably benign	Het
Sgk3	T	C	1: 9,949,273 (GRCm39)	I147T	possibly damaging	Het
Slc25a24	T	A	3: 109,062,387 (GRCm39)	I159N	probably damaging	Het
Slc26a4	T	C	12: 31,572,526 (GRCm39)		probably null	Het
Slc35f4	T	C	14: 49,541,714 (GRCm39)	I347V	probably benign	Het
Spag17	A	T	3: 100,016,713 (GRCm39)	M2163L	probably benign	Het
Stab2	C	T	10: 86,786,133 (GRCm39)		probably benign	Het
Sult2a8	G	A	7: 14,145,630 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,078,320 (GRCm39)	L4718P	probably damaging	Het
Timd4	G	T	11: 46,706,521 (GRCm39)	G108W	probably damaging	Het
Timm9	T	C	12: 71,173,148 (GRCm39)		probably benign	Het
Vmn2r98	G	A	17: 19,286,275 (GRCm39)	V258I	probably benign	Het
Zcchc9	C	T	13: 91,949,000 (GRCm39)	V174I	probably benign	Het
Zdbf2	T	C	1: 63,342,236 (GRCm39)	V205A	possibly damaging	Het

Other mutations in Ppwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ppwd1	APN	13	104,353,651 (GRCm39)	missense	probably damaging	1.00
IGL01582:Ppwd1	APN	13	104,350,212 (GRCm39)	missense	probably benign	0.01
IGL01697:Ppwd1	APN	13	104,356,972 (GRCm39)	missense	probably benign	0.01
IGL01771:Ppwd1	APN	13	104,353,624 (GRCm39)	missense	probably damaging	1.00
IGL02414:Ppwd1	APN	13	104,359,645 (GRCm39)	missense	probably benign
IGL02873:Ppwd1	APN	13	104,346,261 (GRCm39)	missense	probably damaging	1.00
F5770:Ppwd1	UTSW	13	104,356,745 (GRCm39)	missense	probably damaging	0.98
R0462:Ppwd1	UTSW	13	104,359,468 (GRCm39)	critical splice acceptor site	probably null
R1638:Ppwd1	UTSW	13	104,356,771 (GRCm39)	missense	probably damaging	1.00
R2211:Ppwd1	UTSW	13	104,343,650 (GRCm39)	missense	probably benign	0.26
R2226:Ppwd1	UTSW	13	104,353,753 (GRCm39)	missense	probably damaging	1.00
R2299:Ppwd1	UTSW	13	104,356,571 (GRCm39)	missense	probably benign
R2353:Ppwd1	UTSW	13	104,350,090 (GRCm39)	missense	probably benign
R2382:Ppwd1	UTSW	13	104,343,621 (GRCm39)	missense	probably damaging	1.00
R3123:Ppwd1	UTSW	13	104,350,198 (GRCm39)	missense	possibly damaging	0.90
R4521:Ppwd1	UTSW	13	104,346,167 (GRCm39)	missense	probably benign	0.16
R4972:Ppwd1	UTSW	13	104,356,616 (GRCm39)	missense	probably benign	0.00
R5125:Ppwd1	UTSW	13	104,356,943 (GRCm39)	missense	probably benign	0.14
R5178:Ppwd1	UTSW	13	104,356,943 (GRCm39)	missense	probably benign	0.14
R5468:Ppwd1	UTSW	13	104,361,952 (GRCm39)	missense	possibly damaging	0.52
R5638:Ppwd1	UTSW	13	104,356,906 (GRCm39)	missense	probably damaging	1.00
R6748:Ppwd1	UTSW	13	104,344,538 (GRCm39)	nonsense	probably null
R7095:Ppwd1	UTSW	13	104,342,134 (GRCm39)	missense	probably benign	0.21
R7201:Ppwd1	UTSW	13	104,343,680 (GRCm39)	missense	probably damaging	1.00
R7206:Ppwd1	UTSW	13	104,350,106 (GRCm39)	missense	probably damaging	0.99
R7664:Ppwd1	UTSW	13	104,356,798 (GRCm39)	missense	probably damaging	1.00
R7746:Ppwd1	UTSW	13	104,353,714 (GRCm39)	missense	probably damaging	1.00
R9259:Ppwd1	UTSW	13	104,359,612 (GRCm39)	missense	probably damaging	1.00
R9354:Ppwd1	UTSW	13	104,342,080 (GRCm39)	missense	probably benign	0.00
R9408:Ppwd1	UTSW	13	104,346,155 (GRCm39)	missense	possibly damaging	0.74
V7580:Ppwd1	UTSW	13	104,356,745 (GRCm39)	missense	probably damaging	0.98
V7581:Ppwd1	UTSW	13	104,356,745 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-12-18