Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01530:Pdzph1'

89718

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 #

IGL01530

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58922715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 983 (D983N)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: D983N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: D983N

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	G	A	14: 54,643,986	R1117W	probably damaging	Het
Acox2	T	G	14: 8,246,363	Y476S	probably damaging	Het
Arl6ip5	G	A	6: 97,210,824	D2N	possibly damaging	Het
C77080	G	A	4: 129,222,796		probably null	Het
Ces2h	A	G	8: 105,014,484	H36R	probably benign	Het
Cfap44	C	A	16: 44,449,167	A1178E	probably damaging	Het
Clmn	T	A	12: 104,791,856	I134F	probably damaging	Het
Col6a5	A	G	9: 105,915,186		probably benign	Het
Csmd1	C	T	8: 15,903,195	E3429K	probably damaging	Het
Csmd2	A	G	4: 128,414,301	D1284G	possibly damaging	Het
Csmd3	C	T	15: 47,838,437	G1750E	possibly damaging	Het
Csmd3	T	G	15: 47,669,617	D2516A	probably damaging	Het
Depdc1a	C	T	3: 159,523,923	H631Y	probably damaging	Het
Fam129c	A	T	8: 71,603,917		probably benign	Het
Fat2	A	T	11: 55,283,387	S2167T	probably benign	Het
Flii	G	A	11: 60,720,182	R474*	probably null	Het
Hmcn2	A	C	2: 31,354,264	D687A	possibly damaging	Het
Hrh4	A	G	18: 13,015,947		probably benign	Het
Hsd3b5	G	A	3: 98,619,123	R336C	probably damaging	Het
Igkv5-39	T	A	6: 69,900,475	E79V	probably damaging	Het
Iqgap3	G	A	3: 88,112,303		probably null	Het
Irak3	G	A	10: 120,142,794	S492F	probably benign	Het
Kif14	T	A	1: 136,478,419		probably benign	Het
Kmt2c	T	C	5: 25,313,500	I2394V	probably benign	Het
Lama1	C	T	17: 67,796,790	A2002V	probably benign	Het
Map3k19	T	C	1: 127,822,104	E1170G	probably damaging	Het
Mdn1	T	C	4: 32,711,938		probably benign	Het
Mpo	G	T	11: 87,801,191	M483I	probably benign	Het
Neu3	T	C	7: 99,813,746	S257G	probably benign	Het
Nup214	A	G	2: 32,033,721	T1421A	probably benign	Het
Pbx1	T	C	1: 168,191,304	N324S	probably benign	Het
Pcbp2	T	C	15: 102,484,166	S5P	probably benign	Het
Pds5b	A	G	5: 150,792,175	I511V	probably benign	Het
Phldb2	A	C	16: 45,802,729	D651E	probably damaging	Het
Pkhd1	A	G	1: 20,559,419		probably null	Het
Plxnb1	A	G	9: 109,110,405	D1406G	probably benign	Het
Rhebl1	T	C	15: 98,879,486	D65G	probably damaging	Het
Smpdl3a	A	G	10: 57,807,893	H249R	probably damaging	Het
Sorbs1	T	C	19: 40,376,647	T231A	probably benign	Het
Tmem232	G	A	17: 65,256,548	Q617*	probably null	Het
Trim62	A	G	4: 128,884,459	D97G	probably benign	Het
Tsc2	T	C	17: 24,622,662	T328A	possibly damaging	Het
Ugt2b5	C	T	5: 87,137,245	V278I	probably benign	Het
Usp4	T	C	9: 108,362,900		probably null	Het
Vdac3-ps1	C	T	13: 18,031,506		noncoding transcript	Het
Wwc2	T	A	8: 47,863,939	R706S	unknown	Het
Xpot	A	C	10: 121,611,528	I114S	probably damaging	Het
Zfp777	T	A	6: 48,043,984	S279C	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
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
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

2013-12-03