Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Pdzph1'

297930

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 #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58973391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 632 (T632I)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: T632I

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T632I

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 46,005,262	A545V	probably damaging	Het
Adam29	A	T	8: 55,872,867	L184*	probably null	Het
Ap1g1	C	T	8: 109,849,622	A432V	probably damaging	Het
Atrn	C	T	2: 130,972,282	T716I	probably damaging	Het
B020004J07Rik	T	A	4: 101,835,573	Y410F	probably damaging	Het
Bahd1	C	A	2: 118,917,045	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,455,525	V256A	probably benign	Het
Camta2	A	G	11: 70,670,685	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,650,122	T38K	probably benign	Het
Cmtm3	T	C	8: 104,344,805	L111P	probably damaging	Het
Col27a1	T	C	4: 63,318,255		probably benign	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Flt1	C	A	5: 147,639,248	R650L	probably benign	Het
Fpr1	T	A	17: 17,876,653	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,862,286	N42K	possibly damaging	Het
Gldc	T	C	19: 30,099,899	T958A	probably benign	Het
Gm3573	A	G	14: 42,187,495		probably null	Het
Hspbp1	T	C	7: 4,681,841		probably benign	Het
Jhy	G	T	9: 40,917,175	Y478*	probably null	Het
Kiz	A	G	2: 146,870,770	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,253,718	Y144C	probably benign	Het
Lamc3	A	T	2: 31,920,662	Y848F	probably benign	Het
Mixl1	T	C	1: 180,694,704	E204G	probably benign	Het
Muc2	T	A	7: 141,751,857	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,697,898	S282G	probably damaging	Het
Olfr1465	T	C	19: 13,313,938	M116V	probably damaging	Het
Olfr175-ps1	C	A	16: 58,824,328	C127F	probably benign	Het
Olfr531	T	A	7: 140,400,662	Y128F	probably damaging	Het
Orc2	A	T	1: 58,466,122		probably benign	Het
Pcdhb10	T	C	18: 37,412,690	I273T	probably benign	Het
Phf1	A	G	17: 26,935,626	Y225C	probably damaging	Het
Prcp	T	C	7: 92,901,174	F60L	probably damaging	Het
Psg21	C	T	7: 18,655,036	V44I	possibly damaging	Het
Ptgdr	C	T	14: 44,858,614	V214M	probably damaging	Het
Pth1r	G	A	9: 110,727,680	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,444,665	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,118	Q128*	probably null	Het
Rrbp1	T	C	2: 143,949,759		probably benign	Het
Skint5	T	A	4: 113,731,076	M726L	unknown	Het
Slc6a18	T	C	13: 73,669,995	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,204,156		probably benign	Het
Tacr3	C	A	3: 134,829,471	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,624,822	K534*	probably null	Het
Timp3	T	A	10: 86,338,451	M67K	probably benign	Het
Tmem120a	C	T	5: 135,736,774	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,221,647		probably benign	Het
Tubal3	A	G	13: 3,930,554	R89G	probably benign	Het
Wdr35	A	T	12: 9,024,297	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,612,529	H628L	unknown	Het
Zmynd8	A	G	2: 165,833,405	V301A	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
IGL02201:Pdzph1	APN	17	58967511	splice site	probably benign
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