Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02089:Pdzph1'

279348

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: 0.077) question?

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58967339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 837 (I837F)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025064
AA Change: I837F

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: I837F

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 69,060,187		silent	Het
Adck1	G	T	12: 88,446,710	V271F	probably damaging	Het
Aggf1	T	C	13: 95,370,929	D116G	probably benign	Het
Anapc1	A	T	2: 128,663,933	V661E	probably damaging	Het
Apoa5	T	C	9: 46,269,139		probably null	Het
Atp8a2	C	T	14: 60,026,920		probably null	Het
Bnipl	A	T	3: 95,250,266		probably benign	Het
Cbs	T	G	17: 31,615,545	D490A	probably benign	Het
Chrdl1	G	T	X: 143,303,514	H199N	possibly damaging	Het
D3Ertd254e	T	C	3: 36,164,728	F300S	possibly damaging	Het
Dcaf1	C	T	9: 106,863,111	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,008,845		probably benign	Het
Ephb4	A	G	5: 137,370,762	K805E	probably damaging	Het
Ergic3	A	G	2: 156,010,475	N135D	probably benign	Het
Fbxw18	C	T	9: 109,701,322	V74I	probably benign	Het
Fmo4	G	T	1: 162,799,080	T299N	probably benign	Het
Gmeb1	T	C	4: 132,225,836	K540E	probably damaging	Het
H60c	T	A	10: 3,259,826	S154C	possibly damaging	Het
Herc1	T	C	9: 66,480,869	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,431,379	D937G	probably damaging	Het
Ift122	A	G	6: 115,925,437	D1079G	probably benign	Het
Il6st	T	C	13: 112,495,240	W438R	probably benign	Het
Lypla2	C	T	4: 135,969,621	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,385,875	Y516C	probably damaging	Het
Mmp24	G	A	2: 155,812,293	G397D	probably damaging	Het
Muc4	G	A	16: 32,751,313	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,863,250	V3311G	probably benign	Het
Naca	A	G	10: 128,036,489		probably benign	Het
Nrxn1	A	G	17: 91,088,401	V109A	probably benign	Het
Nup210	T	G	6: 91,076,698	D279A	probably benign	Het
Olfr1097	A	G	2: 86,891,116	S20P	possibly damaging	Het
Olfr981	A	T	9: 40,022,770	I126F	probably damaging	Het
Pappa	T	A	4: 65,156,124	V305E	possibly damaging	Het
Pcdh19	A	T	X: 133,588,496	M977K	probably benign	Het
Phip	A	T	9: 82,871,319	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,816,288	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,448	V1063M	probably damaging	Het
Qprt	A	T	7: 127,108,356	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,700,026	K391E	possibly damaging	Het
Rbbp7	C	A	X: 162,771,056	P162Q	probably benign	Het
Rev3l	A	T	10: 39,825,099	N1864I	probably damaging	Het
Rims1	A	G	1: 22,630,475	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,162,783	K107I	probably benign	Het
Sbf1	C	A	15: 89,302,505	E864*	probably null	Het
Strip2	G	A	6: 29,917,180		probably benign	Het
Stx4a	T	C	7: 127,848,398	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,222,359	V577I	possibly damaging	Het
Tex38	T	C	4: 115,780,394	T71A	possibly damaging	Het
Usp38	T	C	8: 80,985,714	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,738,166	V730E	probably benign	Het
Wwp2	T	A	8: 107,554,057	L644Q	probably damaging	Het
Zpld1	A	G	16: 55,251,611	I95T	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
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
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