Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02876:Pdzph1'

406247

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: 0.098) question?

Stock #

IGL02876

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58974069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 406 (S406I)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: S406I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: S406I

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,919,841	V564A	probably damaging	Het
Adamts15	A	T	9: 30,904,522	N679K	probably damaging	Het
Angpt1	T	G	15: 42,426,977	D497A	possibly damaging	Het
Asap2	A	G	12: 21,258,163	K849R	probably benign	Het
Aspm	T	C	1: 139,473,653	V1137A	probably damaging	Het
Atp12a	A	G	14: 56,373,289	I297V	probably benign	Het
Atp2a2	A	G	5: 122,466,008	V454A	probably benign	Het
Carmil1	T	A	13: 24,154,668		probably benign	Het
Csmd2	A	T	4: 128,321,335	K517*	probably null	Het
Csmd3	A	T	15: 47,606,096		probably benign	Het
Cyp2d11	T	A	15: 82,389,496	Q427L	possibly damaging	Het
Eml5	C	T	12: 98,858,841	V706M	probably damaging	Het
Entpd8	A	C	2: 25,085,060	S428R	probably benign	Het
Gm10283	T	C	8: 60,501,219		probably benign	Het
Gm13124	A	G	4: 144,555,773	Y150H	probably damaging	Het
Gpatch3	T	A	4: 133,580,684	V363E	probably damaging	Het
Hoxb5	T	A	11: 96,303,768	M52K	probably damaging	Het
Ift52	T	C	2: 163,036,707	V307A	probably benign	Het
Igkv1-115	T	C	6: 68,161,440		noncoding transcript	Het
Kdm5a	T	C	6: 120,390,644		probably benign	Het
Lama1	T	A	17: 67,750,692		probably null	Het
Lrp6	G	A	6: 134,456,114	P1418L	probably benign	Het
Mill2	T	C	7: 18,856,507	F156L	probably damaging	Het
Mnat1	A	G	12: 73,170,604	R85G	probably damaging	Het
Myrip	A	T	9: 120,432,674	D451V	probably damaging	Het
Olfr397	A	T	11: 73,964,713	Y35F	possibly damaging	Het
Ptprb	A	G	10: 116,348,211		probably benign	Het
Rxfp4	T	A	3: 88,652,435	R236S	possibly damaging	Het
Ryr2	T	C	13: 11,707,793	M2604V	probably benign	Het
Setd1a	G	A	7: 127,778,501		probably benign	Het
Spata33	A	T	8: 123,221,980	H88L	probably damaging	Het
Spcs3	A	T	8: 54,526,451	N98K	probably damaging	Het
Srgap3	A	G	6: 112,771,453	S413P	probably damaging	Het
Stap2	T	C	17: 55,999,961	R239G	probably benign	Het
Surf6	A	G	2: 26,892,626	Y230H	probably damaging	Het
Tasp1	C	T	2: 139,834,363	V382M	probably benign	Het
Tnc	G	T	4: 64,015,101	A642E	possibly damaging	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het
Vmn2r110	T	A	17: 20,574,296	T704S	probably damaging	Het
Vtcn1	A	T	3: 100,883,829	D61V	probably damaging	Het
Zc3h12d	G	A	10: 7,862,600	M223I	probably damaging	Het
Zfp592	T	A	7: 81,038,127	S934T	probably benign	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
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

2016-08-02