Mutagenetix > Incidental Mutations

Incidental Mutation 'R6748:Ppwd1'

530661

Institutional Source

Beutler Lab

Gene Symbol

Ppwd1

Ensembl Gene

ENSMUSG00000021713

Gene Name

peptidylprolyl isomerase domain and WD repeat containing 1

Synonyms

4632422M10Rik, A330090G21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R6748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 104208030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 527 (Y527*)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022226] [ENSMUST00000069187]

AlphaFold

Q8CEC6

Predicted Effect

probably null
Transcript: ENSMUST00000022226
AA Change: Y527*

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: Y527*

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

probably benign
Transcript: ENSMUST00000069187

SMART Domains

Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712

Domain	Start	End	E-Value	Type
RING	31	75	3.07e-5	SMART
BBOX	122	168	3.07e-1	SMART
BBOX	173	219	5.95e-3	SMART
BBC	182	309	8.07e-22	SMART
ARF	326	508	1.15e-78	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	C	A	1: 38,535,246	R178I	probably damaging	Het
Agr3	A	G	12: 35,947,595		probably null	Het
Aoc1	C	T	6: 48,906,294	T368I	possibly damaging	Het
Aph1c	A	G	9: 66,833,295	S50P	probably damaging	Het
Arhgap30	A	G	1: 171,404,810	E341G	possibly damaging	Het
Atp8b3	A	T	10: 80,525,224	M926K	possibly damaging	Het
C1qtnf9	A	G	14: 60,779,827	N269D	probably damaging	Het
Cdc42bpb	T	C	12: 111,294,839		probably benign	Het
Clec4a1	T	C	6: 122,933,897	I237T	possibly damaging	Het
Clpx	A	G	9: 65,310,159	N3S	probably benign	Het
Col19a1	A	G	1: 24,534,070	I207T	unknown	Het
Cyp2j8	T	A	4: 96,475,545	T294S	probably benign	Het
Dnah1	A	G	14: 31,299,988	I1186T	probably damaging	Het
Dnhd1	T	G	7: 105,720,637	V4423G	probably benign	Het
Dock4	A	T	12: 40,704,466	I485F	probably benign	Het
Drd2	T	A	9: 49,403,202	C244*	probably null	Het
Frmpd1	T	A	4: 45,274,397	I435K	probably benign	Het
Fzd5	A	G	1: 64,735,564	M346T	possibly damaging	Het
Gc	T	C	5: 89,435,572	T371A	probably benign	Het
Gm12185	T	A	11: 48,916,296	T23S	possibly damaging	Het
Gm7792	T	C	5: 93,852,213	W38R	probably benign	Het
Hbq1a	A	G	11: 32,300,169		probably null	Het
Herc1	TCCC	TCC	9: 66,501,188		probably null	Het
Il1rap	A	T	16: 26,722,356	N449I	probably benign	Het
Itgb5	T	A	16: 33,899,297	D279E	probably damaging	Het
Mat2b	T	A	11: 40,680,194	I268F	probably benign	Het
Mtor	T	C	4: 148,550,184	F2421L	probably damaging	Het
Myo5b	G	A	18: 74,701,503	R878Q	possibly damaging	Het
Nkx2-6	A	G	14: 69,175,106	D241G	probably benign	Het
Olfr1306	T	A	2: 111,912,357	N191I	possibly damaging	Het
Olfr191	T	A	16: 59,085,890	M198L	probably benign	Het
Pcdhb22	A	C	18: 37,518,746	D89A	probably damaging	Het
Pcnx2	C	T	8: 125,850,335	R986Q	probably damaging	Het
Plxna2	A	G	1: 194,794,182		probably null	Het
Rnf126	A	G	10: 79,762,136	L131P	probably benign	Het
Rsl1	T	A	13: 67,182,624	C379S	probably benign	Het
Sec23b	A	G	2: 144,566,794	Y133C	probably damaging	Het
Slc25a24	T	A	3: 109,149,507	V112D	possibly damaging	Het
Slc35f3	A	T	8: 126,394,638	R413*	probably null	Het
Tas1r2	T	C	4: 139,669,611	F754L	probably damaging	Het
Tbc1d14	A	G	5: 36,495,254	S615P	probably damaging	Het
Ttc17	T	C	2: 94,386,102	K80R	probably benign	Het
Ttn	T	C	2: 76,746,084	T24822A	possibly damaging	Het
Vmn1r222	C	A	13: 23,232,947	R32L	probably benign	Het
Zfp354b	G	A	11: 50,922,832	T422M	probably damaging	Het
Zfp407	G	A	18: 84,208,830	T2218M	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTTCTCCGAGGTTGCATG -3'
(R):5'- GACCGGATTATGAAGGACTGTC -3'

Sequencing Primer
(F):5'- CCGAGGTTGCATGTCATTATTGCTC -3'
(R):5'- CTTGAGAACATTAGAAAATGGA -3'

Posted On

2018-08-01