Mutagenetix > Incidental Mutation

Incidental Mutation 'R0553:Pdzph1'

45306

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

038745-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58922727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 979 (V979M)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025064]

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: V979M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: V979M

Domain	Start	End	E-Value	Type
Blast:PDZ	780	844	6e-20	BLAST
PDZ	915	984	3.31e-15	SMART
PH	993	1096	9.4e-19	SMART
PH	1120	1218	2.83e-13	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,686	I729V	probably damaging	Het
9530002B09Rik	A	T	4: 122,702,335	M120L	unknown	Het
Adamts13	T	A	2: 26,991,334	C774*	probably null	Het
Amh	A	G	10: 80,806,176		probably benign	Het
Ccdc173	C	A	2: 69,789,441	R8L	probably damaging	Het
Cd40	G	A	2: 165,070,741	R204Q	probably benign	Het
Clhc1	A	C	11: 29,561,366		probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	A	T	3: 93,203,584	H973L	unknown	Het
Fut2	T	A	7: 45,651,274	I25F	probably damaging	Het
Galnt7	T	C	8: 57,552,430		probably benign	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Gm7534	T	C	4: 134,202,518	T159A	possibly damaging	Het
Gm8909	G	T	17: 36,168,057	P100Q	probably damaging	Het
Gmppb	A	T	9: 108,049,797	M56L	probably benign	Het
Grm3	C	A	5: 9,570,048	A399S	probably benign	Het
Hey2	G	A	10: 30,840,489		probably benign	Het
Ift172	A	G	5: 31,275,842		probably benign	Het
Kcnh5	C	A	12: 75,137,673	C92F	probably benign	Het
Kdm1a	T	C	4: 136,555,298	D229G	probably damaging	Het
Klf11	C	G	12: 24,655,090	P164R	probably benign	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,251,803	V6A	probably benign	Het
Ltbr	A	C	6: 125,313,388		probably null	Het
Mmp17	T	G	5: 129,598,670	S298A	probably benign	Het
Nacc2	T	A	2: 26,089,590	E278V	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,155	Y185N	probably damaging	Het
Olfr875	T	A	9: 37,773,331	I224N	probably benign	Het
Otop2	C	T	11: 115,329,462	A376V	probably damaging	Het
Pdia2	T	C	17: 26,196,243	E504G	probably damaging	Het
Pou5f1	A	G	17: 35,509,477	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,710,627	F269L	probably benign	Het
Rb1	A	T	14: 73,211,712	C659*	probably null	Het
Rnf8	T	C	17: 29,621,639		probably null	Het
Rras	T	G	7: 45,020,556	I137M	probably benign	Het
Slc38a9	A	T	13: 112,714,198	H372L	probably damaging	Het
Spata9	T	C	13: 75,977,779		probably null	Het
Tas2r115	T	C	6: 132,737,959	T10A	probably benign	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Unc80	A	T	1: 66,506,669	I460F	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,451,997	A293V	possibly damaging	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	58974796	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	58888110	missense	probably benign
IGL01413:Pdzph1	APN	17	58879152	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	58922715	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	58967339	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	58967511	splice site	probably benign
IGL02548:Pdzph1	APN	17	58973391	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58879073	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	58880647	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	58932483	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	58974069	missense	probably benign
IGL03304:Pdzph1	APN	17	58880646	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	58974234	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	58922761	splice site	probably benign
R0008:Pdzph1	UTSW	17	58922761	splice site	probably benign
R0498:Pdzph1	UTSW	17	58973830	missense	probably benign	0.00
R0594:Pdzph1	UTSW	17	58954479	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	58932432	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	58974087	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	58974747	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	58932445	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	58973752	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	58974813	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	58922583	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	58974097	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	58974097	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	58932412	splice site	probably benign
R2264:Pdzph1	UTSW	17	58888167	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	58922649	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	58973336	nonsense	probably null
R4700:Pdzph1	UTSW	17	58974546	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	58973530	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	58974756	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	58922609	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	58974880	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	58973947	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	58879151	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	58885867	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	58974412	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	58973746	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	58973627	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	58974436	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	58974126	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	58879159	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	58967341	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	58932460	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	58932460	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	58879110	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	58932481	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	58975143	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	58973014	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	58884013	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	58880720	nonsense	probably null
R8820:Pdzph1	UTSW	17	58880720	nonsense	probably null
R8839:Pdzph1	UTSW	17	58950242	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	58888038	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	58974339	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	58974604	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	58973540	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	58954400	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	58973130	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	58950267	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	58974903	nonsense	probably null
R9774:Pdzph1	UTSW	17	58974756	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	58879121	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAGAACAATTCCTGGACAGTCAAG -3'
(R):5'- CCTGGGTCACAGATAAGTCCTACCAC -3'

Sequencing Primer
(F):5'- GAGTAATTCTTGGACACAGGATAGTC -3'
(R):5'- GTCCTACCACTGACATATGAGTC -3'

Posted On

2013-06-11