Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02660:Pdzph1'

302518

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 #

IGL02660

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58880647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1193 (T1193S)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025064] [ENSMUST00000177360]

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: T1193S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T1193S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177108

Predicted Effect

probably benign
Transcript: ENSMUST00000177360
AA Change: T153S

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
AA Change: T153S

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	1	54	1e-4	SMART
Blast:PH	1	56	4e-33	BLAST
PH	80	178	2.83e-13	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	A	G	15: 12,810,767	L341P	probably damaging	Het
Abcd3	A	C	3: 121,784,020	N206K	probably damaging	Het
Adamtsl1	A	G	4: 86,232,610	D335G	probably damaging	Het
Ankmy1	A	T	1: 92,896,094	M150K	probably damaging	Het
Ap3b2	T	C	7: 81,465,698	D680G	probably benign	Het
Asxl3	T	A	18: 22,524,345	V1804D	probably damaging	Het
Bace2	T	C	16: 97,415,140	V311A	probably damaging	Het
C2cd4c	T	A	10: 79,613,302	T4S	probably benign	Het
C2cd6	T	C	1: 59,051,230	Y456C	probably damaging	Het
Cbr1	A	G	16: 93,609,824	S143G	probably benign	Het
Ccdc191	A	G	16: 43,960,099	T815A	probably benign	Het
Cenpf	T	A	1: 189,654,782	Q1767L	probably damaging	Het
Col6a5	A	C	9: 105,936,886	N642K	unknown	Het
Dcaf10	G	A	4: 45,372,769	R394Q	possibly damaging	Het
Ephb1	A	T	9: 102,041,092	I406N	possibly damaging	Het
F13a1	A	G	13: 36,943,894	V370A	possibly damaging	Het
Gm14403	A	T	2: 177,509,464	H401L	probably damaging	Het
Gp6	T	G	7: 4,384,998	R157S	probably benign	Het
Gucy2e	G	A	11: 69,232,007	T514I	probably benign	Het
Hist1h2aa	T	C	13: 23,934,625	V55A	probably damaging	Het
Mok	A	G	12: 110,828,065	I63T	probably damaging	Het
Otop1	T	C	5: 38,288,005	V169A	probably damaging	Het
Plekha7	A	G	7: 116,157,574		probably benign	Het
Plekhm1	A	T	11: 103,374,094		probably benign	Het
Prex1	A	G	2: 166,593,867	Y587H	probably damaging	Het
Scaf1	C	A	7: 45,012,118		probably benign	Het
Sema3f	A	T	9: 107,683,984	F601Y	probably benign	Het
Shoc2	T	C	19: 53,988,021	I114T	probably benign	Het
Skint10	T	A	4: 112,765,030		probably benign	Het
Slc18b1	T	C	10: 23,810,952		probably benign	Het
Slco5a1	A	G	1: 12,989,636	L287P	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Trim5	C	A	7: 104,266,218	R296L	probably damaging	Het
Vmn2r60	G	T	7: 42,142,296	E548*	probably null	Het
Wdr26	A	T	1: 181,198,898	W251R	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
IGL02548:Pdzph1	APN	17	58973391	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58879073	utr 3 prime	probably benign
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