Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02618:Pdzph1'

300754

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

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL02618

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 58879073 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135180 (fasta)

Gene Model

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177108

Predicted Effect

probably benign
Transcript: ENSMUST00000177360

SMART Domains

Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	A	12: 55,057,301	Q178*	probably null	Het
Adgre1	T	A	17: 57,444,021	V565E	possibly damaging	Het
Arfgef2	C	A	2: 166,853,313	N535K	probably damaging	Het
Bbx	A	G	16: 50,247,798	L161S	probably damaging	Het
Bclaf1	T	C	10: 20,323,528	S224P	probably damaging	Het
Car2	A	G	3: 14,897,972	D189G	probably benign	Het
Catsperb	A	T	12: 101,480,724		probably benign	Het
Ccdc88c	C	T	12: 100,913,553	V1770I	probably benign	Het
Cebpe	T	C	14: 54,710,777	D203G	probably damaging	Het
Chn2	A	G	6: 54,220,437	N104S	probably damaging	Het
Clec2i	G	A	6: 128,896,501	C231Y	probably damaging	Het
Col4a5	C	T	X: 141,683,682	P1557S	probably damaging	Het
Creb3l1	T	C	2: 91,983,198	N498S	probably benign	Het
Ctnnal1	A	T	4: 56,817,060	D587E	probably benign	Het
Dnmt3l	T	C	10: 78,054,022		probably benign	Het
Dock7	A	G	4: 99,083,028	V100A	probably benign	Het
Frk	C	T	10: 34,583,964	T185I	possibly damaging	Het
Frmd4b	G	A	6: 97,308,105	Q340*	probably null	Het
Lima1	C	A	15: 99,802,216		probably benign	Het
Ndrg1	G	A	15: 66,940,237	H202Y	probably benign	Het
Nxpe2	T	G	9: 48,326,334	N207T	probably damaging	Het
Olfr201	A	T	16: 59,268,927	S247T	probably damaging	Het
Pinx1	A	G	14: 63,868,520	D75G	probably damaging	Het
Plxdc1	A	T	11: 97,932,304	D370E	probably benign	Het
Polb	A	T	8: 22,637,093	L228Q	probably damaging	Het
Rab3gap2	T	A	1: 185,251,741	I521N	possibly damaging	Het
Rapgef1	A	G	2: 29,737,943	D1045G	probably damaging	Het
Rbks	A	T	5: 31,624,519	Y312*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Soga1	A	G	2: 157,040,566	L522P	probably damaging	Het
Src	A	T	2: 157,464,778	K234*	probably null	Het
Stk36	C	A	1: 74,631,675		probably benign	Het
Ttll6	G	T	11: 96,147,562	C412F	probably benign	Het
Zfp58	A	G	13: 67,491,356	F339L	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
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
X0028:Pdzph1	UTSW	17	58879121	missense	probably damaging	1.00

Posted On

2015-04-16