Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Ppwd1'

178023

Institutional Source

Beutler Lab

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: 0.957) question?

Stock #

F5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104220237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 257 (Y257H)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

AlphaFold

Q8CEC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022226
AA Change: Y257H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: Y257H

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

noncoding transcript
Transcript: ENSMUST00000223755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225798

Meta Mutation Damage Score

0.2204

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257 (GRCm38)	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,886,179 (GRCm38)	M950L	probably benign	Het
AC139131.1	T	G	7: 12,481,196 (GRCm38)		probably benign	Het
Ahcy	G	A	2: 155,064,921 (GRCm38)	R151*	probably null	Het
Arhgef38	T	G	3: 133,149,540 (GRCm38)	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,124,443 (GRCm38)	T282A	possibly damaging	Het
Camk2g	T	C	14: 20,739,312 (GRCm38)		probably benign	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm38)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 17,820,528 (GRCm38)		probably null	Het
Cdc42bpb	C	T	12: 111,296,391 (GRCm38)	G1501S	probably benign	Het
Cfi	T	A	3: 129,854,992 (GRCm38)	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,581,348 (GRCm38)	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,201,011 (GRCm38)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,537,701 (GRCm38)		probably null	Het
Dnah12	T	A	14: 26,773,093 (GRCm38)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482 (GRCm38)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126 (GRCm38)	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926 (GRCm38)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm38)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,379,426 (GRCm38)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,284,276 (GRCm38)	*405W	probably null	Het
Gdap1l1	C	T	2: 163,447,486 (GRCm38)		probably benign	Het
Glrx3	A	G	7: 137,459,153 (GRCm38)	H172R	probably benign	Het
Gm10770	T	A	2: 150,179,484 (GRCm38)	K38*	probably null	Het
Gm20517	G	A	17: 47,618,832 (GRCm38)	V65M	probably damaging	Het
Gm4787	G	A	12: 81,377,567 (GRCm38)	Q606*	probably null	Het
Golga4	A	G	9: 118,556,075 (GRCm38)	E727G	possibly damaging	Het
Got1	T	A	19: 43,500,561 (GRCm38)		probably benign	Het
Heatr5a	A	G	12: 51,881,278 (GRCm38)		probably benign	Het
Hira	G	A	16: 18,894,821 (GRCm38)	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,602,624 (GRCm38)	N252K	probably benign	Het
Ing1	T	C	8: 11,561,934 (GRCm38)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,703,891 (GRCm38)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091 (GRCm38)	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572 (GRCm38)	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727 (GRCm38)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518 (GRCm38)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,455,512 (GRCm38)	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,316,410 (GRCm38)	D1713G	probably damaging	Het
Mctp2	T	A	7: 72,121,751 (GRCm38)		probably benign	Het
Muc6	T	G	7: 141,647,613 (GRCm38)	E808A	probably benign	Het
Mylk	G	T	16: 34,995,204 (GRCm38)		probably null	Het
Myrfl	T	C	10: 116,861,530 (GRCm38)	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,637,937 (GRCm38)	V670A	possibly damaging	Het
Nphp3	T	C	9: 104,035,894 (GRCm38)		probably null	Het
Numbl	T	C	7: 27,279,602 (GRCm38)	S379P	probably benign	Het
Or10j7	G	T	1: 173,183,964 (GRCm38)	L157I	probably benign	Het
Or5an6	G	A	19: 12,394,550 (GRCm38)	V96I	probably benign	Het
Or5p57	G	T	7: 108,066,678 (GRCm38)	T40K	probably benign	Het
Otop3	T	A	11: 115,344,838 (GRCm38)	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834 (GRCm38)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150 (GRCm38)	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422 (GRCm38)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319 (GRCm38)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618 (GRCm38)	T112A	probably benign	Het
Prkcb	G	T	7: 122,528,476 (GRCm38)	W274C	probably damaging	Het
Rabep1	T	C	11: 70,937,516 (GRCm38)		probably benign	Het
Ralgapa1	G	A	12: 55,795,653 (GRCm38)		probably benign	Het
Rasa1	A	G	13: 85,226,945 (GRCm38)		probably null	Het
Rbbp8nl	T	A	2: 180,278,208 (GRCm38)	T558S	probably benign	Het
Recql4	T	C	15: 76,706,169 (GRCm38)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933 (GRCm38)	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,622,549 (GRCm38)		probably benign	Het
Sirpb1b	A	G	3: 15,503,183 (GRCm38)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,689,538 (GRCm38)	M136L	probably benign	Het
Slc5a6	C	T	5: 31,042,613 (GRCm38)		probably null	Het
Spaca1	T	C	4: 34,039,311 (GRCm38)	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648 (GRCm38)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,750,632 (GRCm38)	R2292C	probably damaging	Het
Thbd	A	T	2: 148,407,190 (GRCm38)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,865,271 (GRCm38)	R653H	probably damaging	Het
Tmc3	T	C	7: 83,622,505 (GRCm38)	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,723,326 (GRCm38)	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111 (GRCm38)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782 (GRCm38)	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577 (GRCm38)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060 (GRCm38)	V86A	probably benign	Het
Ttc23	T	C	7: 67,709,315 (GRCm38)		probably benign	Het
Ttc36	A	T	9: 44,801,797 (GRCm38)		probably benign	Het
Tubb3	C	T	8: 123,411,675 (GRCm38)		probably benign	Het
Vmn2r68	C	T	7: 85,221,880 (GRCm38)	V732I	probably benign	Het
Vps18	A	G	2: 119,297,228 (GRCm38)	Y844C	probably benign	Het
Wdr60	A	C	12: 116,211,840 (GRCm38)	S906A	possibly damaging	Het
Wdr72	T	A	9: 74,157,270 (GRCm38)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm38)	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470 (GRCm38)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394 (GRCm38)	R724*	probably null	Het

Other mutations in Ppwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ppwd1	APN	13	104,217,143 (GRCm38)	missense	probably damaging	1.00
IGL01582:Ppwd1	APN	13	104,213,704 (GRCm38)	missense	probably benign	0.01
IGL01697:Ppwd1	APN	13	104,220,464 (GRCm38)	missense	probably benign	0.01
IGL01771:Ppwd1	APN	13	104,217,116 (GRCm38)	missense	probably damaging	1.00
IGL02414:Ppwd1	APN	13	104,223,137 (GRCm38)	missense	probably benign
IGL02803:Ppwd1	APN	13	104,213,684 (GRCm38)	missense	probably benign	0.00
IGL02873:Ppwd1	APN	13	104,209,753 (GRCm38)	missense	probably damaging	1.00
R0462:Ppwd1	UTSW	13	104,222,960 (GRCm38)	critical splice acceptor site	probably null
R1638:Ppwd1	UTSW	13	104,220,263 (GRCm38)	missense	probably damaging	1.00
R2211:Ppwd1	UTSW	13	104,207,142 (GRCm38)	missense	probably benign	0.26
R2226:Ppwd1	UTSW	13	104,217,245 (GRCm38)	missense	probably damaging	1.00
R2299:Ppwd1	UTSW	13	104,220,063 (GRCm38)	missense	probably benign
R2353:Ppwd1	UTSW	13	104,213,582 (GRCm38)	missense	probably benign
R2382:Ppwd1	UTSW	13	104,207,113 (GRCm38)	missense	probably damaging	1.00
R3123:Ppwd1	UTSW	13	104,213,690 (GRCm38)	missense	possibly damaging	0.90
R4521:Ppwd1	UTSW	13	104,209,659 (GRCm38)	missense	probably benign	0.16
R4972:Ppwd1	UTSW	13	104,220,108 (GRCm38)	missense	probably benign	0.00
R5125:Ppwd1	UTSW	13	104,220,435 (GRCm38)	missense	probably benign	0.14
R5178:Ppwd1	UTSW	13	104,220,435 (GRCm38)	missense	probably benign	0.14
R5468:Ppwd1	UTSW	13	104,225,444 (GRCm38)	missense	possibly damaging	0.52
R5638:Ppwd1	UTSW	13	104,220,398 (GRCm38)	missense	probably damaging	1.00
R6748:Ppwd1	UTSW	13	104,208,030 (GRCm38)	nonsense	probably null
R7095:Ppwd1	UTSW	13	104,205,626 (GRCm38)	missense	probably benign	0.21
R7201:Ppwd1	UTSW	13	104,207,172 (GRCm38)	missense	probably damaging	1.00
R7206:Ppwd1	UTSW	13	104,213,598 (GRCm38)	missense	probably damaging	0.99
R7664:Ppwd1	UTSW	13	104,220,290 (GRCm38)	missense	probably damaging	1.00
R7746:Ppwd1	UTSW	13	104,217,206 (GRCm38)	missense	probably damaging	1.00
R9259:Ppwd1	UTSW	13	104,223,104 (GRCm38)	missense	probably damaging	1.00
R9354:Ppwd1	UTSW	13	104,205,572 (GRCm38)	missense	probably benign	0.00
R9408:Ppwd1	UTSW	13	104,209,647 (GRCm38)	missense	possibly damaging	0.74
V7580:Ppwd1	UTSW	13	104,220,237 (GRCm38)	missense	probably damaging	0.98
V7581:Ppwd1	UTSW	13	104,220,237 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

Posted On

2014-05-07