Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02201:Pdzph1'

284213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL02201

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 58967511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	G	A	1: 78,699,153	G484R	probably damaging	Het
Adgrb3	A	G	1: 25,420,550		probably benign	Het
Akr1c14	A	G	13: 4,081,022	D238G	probably damaging	Het
Ccdc88b	T	A	19: 6,846,631	D1418V	probably damaging	Het
Cnnm4	A	T	1: 36,472,750	K353M	probably damaging	Het
Col6a6	A	G	9: 105,780,995	F673L	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dyrk1a	A	G	16: 94,692,149	E747G	probably benign	Het
Eml5	T	A	12: 98,794,424		probably benign	Het
Ercc6l2	A	G	13: 63,852,969	N516D	probably benign	Het
Fbxl17	A	G	17: 63,499,029	L330P	probably damaging	Het
Fgr	A	T	4: 132,994,924	Y168F	probably damaging	Het
Frem2	T	G	3: 53,519,640	K2962N	probably benign	Het
Hdac4	G	T	1: 91,987,660		probably null	Het
Il1r1	A	T	1: 40,313,268	N533Y	probably damaging	Het
Kcnab2	T	C	4: 152,401,918		probably benign	Het
Knl1	C	T	2: 119,069,152	P445S	probably benign	Het
Lamb2	G	A	9: 108,487,542	C1165Y	probably damaging	Het
Nisch	C	T	14: 31,187,094		probably benign	Het
Olfr1097	A	G	2: 86,891,076	L33P	probably damaging	Het
Olfr1357	C	T	10: 78,612,270	V124M	probably damaging	Het
Olfr164	A	T	16: 19,286,462	S94T	probably benign	Het
Olfr889	A	G	9: 38,116,597	D267G	probably benign	Het
Pde3b	T	A	7: 114,534,608	M953K	probably damaging	Het
Plce1	T	C	19: 38,769,446		probably benign	Het
Prr23a3	G	T	9: 98,865,244	V84L	possibly damaging	Het
Psg26	A	G	7: 18,480,146	V197A	probably benign	Het
Ptpa	T	A	2: 30,446,377	C80S	possibly damaging	Het
Ripk4	A	T	16: 97,755,177	V122E	possibly damaging	Het
Scd2	A	G	19: 44,301,340	N258S	probably damaging	Het
Slc38a1	A	T	15: 96,578,798	V394E	probably damaging	Het
Slc7a15	A	G	12: 8,539,023	S175P	possibly damaging	Het
Tacc2	T	A	7: 130,626,212	D1542E	possibly damaging	Het
Trim67	G	T	8: 124,794,058	R53L	probably benign	Het
Urah	A	T	7: 140,835,663	T38S	probably damaging	Het
Vps13c	A	G	9: 67,967,136	S3362G	probably damaging	Het
Wwc1	T	C	11: 35,844,151		probably benign	Het
Zfyve28	T	C	5: 34,243,205	T50A	probably 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
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
R0553:Pdzph1	UTSW	17	58922727	missense	probably damaging	1.00
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

Posted On

2015-04-16