Mutagenetix > Incidental Mutation

Incidental Mutation 'R9354:Ppwd1'

708287

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

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R9354 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104205572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 625 (V625I)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022225] [ENSMUST00000022226] [ENSMUST00000069174] [ENSMUST00000069187]

AlphaFold

Q8CEC6

Predicted Effect

probably benign
Transcript: ENSMUST00000022225

SMART Domains

Protein: ENSMUSP00000022225
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	1.32e-4	SMART
BBC	226	370	2.89e-41	SMART
ARF	387	569	1.15e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000022226
AA Change: V625I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: V625I

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: ENSMUST00000069174

SMART Domains

Protein: ENSMUSP00000069371
Gene: ENSMUSG00000021712

Domain	Start	End	E-Value	Type
RING	11	55	3.07e-5	SMART
BBOX	102	148	3.07e-1	SMART
BBOX	153	199	1.32e-4	SMART
BBC	206	350	2.89e-41	SMART
ARF	367	549	1.15e-78	SMART

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	G	6: 40,928,539	V61A	probably damaging	Het
4933409G03Rik	A	G	2: 68,606,529	Q181R	unknown	Het
Acsl1	T	G	8: 46,513,716	C242G	probably benign	Het
Agap2	A	C	10: 127,087,235	N646T	unknown	Het
Ankrd44	A	T	1: 54,648,279	*994R	probably null	Het
Apol7c	C	T	15: 77,525,912	R278H	possibly damaging	Het
Birc6	A	G	17: 74,614,406	E2166G	probably benign	Het
Caskin2	G	A	11: 115,802,642	T528M	probably damaging	Het
Ccdc30	G	T	4: 119,373,653	P15Q	possibly damaging	Het
Cenpf	G	A	1: 189,646,917	T45I		Het
Cep68	T	C	11: 20,238,569	E612G	probably damaging	Het
Chpf2	T	C	5: 24,591,394	L446P	probably damaging	Het
Ctsl	A	T	13: 64,369,036	Y40N	probably damaging	Het
Dis3l	T	C	9: 64,314,640	N496S	probably benign	Het
Espnl	A	T	1: 91,344,601	D561V	probably benign	Het
Flnb	T	A	14: 7,818,411	L87Q	probably benign	Het
Gbp9	T	A	5: 105,084,959	I276F	possibly damaging	Het
Gid4	G	T	11: 60,417,792	R46L	probably benign	Het
Gper1	G	A	5: 139,426,274	D125N	possibly damaging	Het
Gpr146	A	G	5: 139,392,611	N56S	probably benign	Het
Grhpr	G	T	4: 44,981,465	R5L	probably benign	Het
Gstm6	A	T	3: 107,942,702	N59K	probably damaging	Het
Hdac7	A	T	15: 97,796,888	F802L	probably damaging	Het
Igfbpl1	A	T	4: 45,816,348	V159D	probably damaging	Het
Itga8	T	C	2: 12,232,857	S351G	possibly damaging	Het
Itgad	C	A	7: 128,185,974	H354Q	probably damaging	Het
Jmjd1c	T	C	10: 67,224,096	S641P	probably damaging	Het
Klhl33	T	C	14: 50,892,928	T110A	probably benign	Het
Lcorl	T	A	5: 45,733,626	K545*	probably null	Het
Lilra6	A	G	7: 3,911,629	S546P	probably damaging	Het
Ly6c1	T	A	15: 75,044,622	I124F	probably benign	Het
Map4	A	G	9: 110,068,779	T858A	probably benign	Het
March5	G	T	19: 37,207,865		probably benign	Het
Muc2	A	G	7: 141,753,420	K769E		Het
Myh6	T	A	14: 54,963,535	I157F	probably damaging	Het
Naip1	A	G	13: 100,427,486	V389A	probably benign	Het
Olfr549	G	A	7: 102,555,190	R302H	possibly damaging	Het
Pcdhgc4	A	G	18: 37,816,587	H352R	probably benign	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pick1	T	C	15: 79,239,648	V73A	probably damaging	Het
Prune2	A	G	19: 17,122,622	E1830G	probably benign	Het
Ralgapb	A	G	2: 158,437,393	N445S	possibly damaging	Het
Rapgef6	G	T	11: 54,619,923	R222L	possibly damaging	Het
Rorc	A	T	3: 94,372,863		probably benign	Het
Rps6ka1	A	C	4: 133,867,121		probably null	Het
Sdk2	T	C	11: 113,834,931	Y1164C	probably benign	Het
Sema5a	T	A	15: 32,562,756	Y304*	probably null	Het
Slc26a4	A	T	12: 31,535,256	V513D	possibly damaging	Het
Slf2	T	A	19: 44,948,032	D705E	probably damaging	Het
Spag17	A	G	3: 100,027,589	T704A	probably benign	Het
Tex15	C	G	8: 33,573,316	Q925E	possibly damaging	Het
Tmem2	A	G	19: 21,802,025	S400G	probably benign	Het
Trim38	A	T	13: 23,785,892	T145S	probably benign	Het
Trpm3	G	A	19: 22,448,332	C17Y	probably benign	Het
Usp42	A	G	5: 143,715,272	Y999H	probably benign	Het
Vat1	A	C	11: 101,460,615	M300R	probably benign	Het
Vmn1r85	T	A	7: 13,084,798	I140F	probably damaging	Het
Vmn2r57	T	C	7: 41,400,239	I695M	probably benign	Het
Wnk1	C	T	6: 119,965,699	R789Q	unknown	Het
Zswim5	G	A	4: 116,987,035	G1090D	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
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
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'- GTTACCCCTGAGAATCACAAATAGTC -3'
(R):5'- GTGGTGGGTAGTCTAATTCCCC -3'

Sequencing Primer
(F):5'- TCACAAATAGTCCAGAAAAGGCAGTG -3'
(R):5'- TGGGTAGTCTAATTCCCCCAGGG -3'

Posted On

2022-04-18