Mutagenetix > Incidental Mutation

Incidental Mutation 'R5178:Ppwd1'

399508

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

042758-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104220435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 191 (S191T)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

AlphaFold

Q8CEC6

Predicted Effect

probably benign
Transcript: ENSMUST00000022226
AA Change: S191T

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: S191T

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

0.0854

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	G	T	13: 23,422,649	A94E	possibly damaging	Het
Carmil2	G	T	8: 105,696,889	G1207V	probably damaging	Het
Cndp2	A	T	18: 84,675,028	N202K	probably benign	Het
Cyp2c66	A	G	19: 39,171,029	Y308C	probably damaging	Het
Dhx29	T	G	13: 112,932,600	S155A	possibly damaging	Het
Dnah7b	T	G	1: 46,358,216	F3936V	possibly damaging	Het
Dsg1b	G	A	18: 20,397,503	G405E	probably damaging	Het
Exo5	A	T	4: 120,921,537		probably null	Het
Fam171b	T	C	2: 83,879,987	F668L	probably damaging	Het
Gemin5	A	T	11: 58,146,518	S624T	probably benign	Het
Gm15922	T	A	7: 3,739,397	K44*	probably null	Het
Gpc2	C	A	5: 138,275,605	V444L	possibly damaging	Het
Hephl1	T	A	9: 15,086,172	K399N	probably damaging	Het
Lair1	G	A	7: 4,010,489	T82I	possibly damaging	Het
Lhx1	G	T	11: 84,520,388	A155E	possibly damaging	Het
Maip1	G	A	1: 57,415,690	D278N	probably benign	Het
Mcm4	T	A	16: 15,635,303	D174V	probably benign	Het
Mcph1	T	A	8: 18,607,326	D60E	probably damaging	Het
Mmp17	T	A	5: 129,595,058	W132R	probably damaging	Het
Olfr1178	C	T	2: 88,391,475	T76I	possibly damaging	Het
Olfr868	T	A	9: 20,101,192	C144*	probably null	Het
Pds5a	T	C	5: 65,663,875	T169A	probably damaging	Het
Pfkm	A	G	15: 98,131,515	N697D	probably benign	Het
Ranbp2	T	A	10: 58,476,785	M1109K	probably benign	Het
Robo4	T	C	9: 37,407,960	W535R	probably damaging	Het
Rsf1	A	G	7: 97,661,872	D603G	possibly damaging	Het
Slc22a26	T	C	19: 7,790,175	T289A	possibly damaging	Het
Sp2	A	G	11: 96,955,838	F554L	probably benign	Het
Sp4	A	G	12: 118,261,889	V580A	possibly damaging	Het
Tbc1d19	T	A	5: 53,889,325	S413T	possibly damaging	Het
Tcrg-C4	A	G	13: 19,344,762		probably benign	Het
Tecta	T	C	9: 42,375,185	D725G	probably damaging	Het
Tmem200a	T	A	10: 25,994,379	Q4H	probably benign	Het
Tpx2	T	A	2: 152,875,549	I122N	probably benign	Het
Ube4b	T	C	4: 149,342,992	M900V	probably damaging	Het
Vmn1r87	G	T	7: 13,131,865	A165E	possibly damaging	Het
Vmn2r95	A	G	17: 18,440,075	T250A	probably benign	Het
Wasf1	G	A	10: 40,937,676	R518H	unknown	Het
Zfhx2	A	T	14: 55,074,775	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,637,645		probably null	Het
Zfp976	A	G	7: 42,612,501		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGTACTCAATCATCCCGG -3'
(R):5'- TGCCTCAGAATACCTTACGACC -3'

Sequencing Primer
(F):5'- TCCCGGATTTGTCAGAAGAC -3'
(R):5'- AAGGCCCTGGATTCAATTCCTAG -3'

Posted On

2016-07-06