Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03336:Pdzph1'

417034

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: 0.089) question?

Stock #

IGL03336

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58974234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 351 (V351D)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: V351D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: V351D

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 60,016,402 (GRCm38)	V63A	probably benign	Het
Ankrd11	A	G	8: 122,891,843 (GRCm38)	S1757P	probably benign	Het
Atp8a1	G	T	5: 67,729,807 (GRCm38)	Y629*	probably null	Het
Cenpf	T	C	1: 189,652,647 (GRCm38)	K2479E	probably damaging	Het
Clip1	G	T	5: 123,653,570 (GRCm38)	S179*	probably null	Het
Cmya5	A	G	13: 93,093,505 (GRCm38)	S1692P	possibly damaging	Het
Cyp17a1	T	C	19: 46,671,035 (GRCm38)	S119G	probably benign	Het
Fndc5	T	C	4: 129,139,918 (GRCm38)	F160L	probably benign	Het
Muc5b	T	C	7: 141,864,363 (GRCm38)	V3682A	probably damaging	Het
Myh8	G	T	11: 67,284,702 (GRCm38)	D328Y	probably damaging	Het
Olfr1226	T	C	2: 89,193,897 (GRCm38)	T46A	probably benign	Het
Olfr566	C	T	7: 102,856,616 (GRCm38)	C222Y	probably benign	Het
Olfr633	T	C	7: 103,947,409 (GRCm38)	L281P	probably damaging	Het
Olfr713	T	A	7: 107,036,335 (GRCm38)	M60K	probably damaging	Het
Olfr772	T	C	10: 129,174,229 (GRCm38)	E264G	probably benign	Het
Paxbp1	T	C	16: 91,034,172 (GRCm38)	I439V	probably benign	Het
Pcdhb3	T	C	18: 37,302,961 (GRCm38)	V660A	possibly damaging	Het
Pcyt2	T	C	11: 120,615,932 (GRCm38)	D32G	probably damaging	Het
Ribc2	C	T	15: 85,132,913 (GRCm38)	Q51*	probably null	Het
Scn2a	A	G	2: 65,688,744 (GRCm38)	E438G	probably damaging	Het
Slc18a3	T	C	14: 32,462,828 (GRCm38)		probably benign	Het
Slc5a1	G	A	5: 33,146,943 (GRCm38)	V296I	probably benign	Het
Slit3	A	T	11: 35,670,101 (GRCm38)	T958S	probably damaging	Het
Spag8	C	T	4: 43,652,114 (GRCm38)		probably benign	Het
Susd3	A	C	13: 49,238,782 (GRCm38)	S144R	probably benign	Het
Synpo2	T	C	3: 123,114,179 (GRCm38)	E496G	possibly damaging	Het
Tbcel	T	C	9: 42,439,131 (GRCm38)	T269A	probably benign	Het
Tmem156	A	G	5: 65,075,764 (GRCm38)	Y152H	probably benign	Het
Tmem247	A	G	17: 86,918,429 (GRCm38)	E99G	probably damaging	Het
Tuba3b	A	G	6: 145,619,724 (GRCm38)	D306G	possibly damaging	Het
Vps13c	T	A	9: 67,951,642 (GRCm38)	D2791E	possibly damaging	Het
Ypel4	A	G	2: 84,737,527 (GRCm38)	Y98C	probably damaging	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	58,974,796 (GRCm38)	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	58,888,110 (GRCm38)	missense	probably benign
IGL01413:Pdzph1	APN	17	58,879,152 (GRCm38)	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	58,922,715 (GRCm38)	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	58,967,339 (GRCm38)	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	58,967,511 (GRCm38)	splice site	probably benign
IGL02548:Pdzph1	APN	17	58,973,391 (GRCm38)	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58,879,073 (GRCm38)	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	58,880,647 (GRCm38)	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	58,932,483 (GRCm38)	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	58,974,069 (GRCm38)	missense	probably benign
IGL03304:Pdzph1	APN	17	58,880,646 (GRCm38)	missense	probably damaging	1.00
R0008:Pdzph1	UTSW	17	58,922,761 (GRCm38)	splice site	probably benign
R0008:Pdzph1	UTSW	17	58,922,761 (GRCm38)	splice site	probably benign
R0498:Pdzph1	UTSW	17	58,973,830 (GRCm38)	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	58,922,727 (GRCm38)	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	58,954,479 (GRCm38)	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	58,932,432 (GRCm38)	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	58,974,087 (GRCm38)	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	58,974,747 (GRCm38)	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	58,932,445 (GRCm38)	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	58,973,752 (GRCm38)	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	58,974,813 (GRCm38)	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	58,922,583 (GRCm38)	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	58,974,097 (GRCm38)	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	58,974,097 (GRCm38)	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	58,932,412 (GRCm38)	splice site	probably benign
R2264:Pdzph1	UTSW	17	58,888,167 (GRCm38)	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	58,922,649 (GRCm38)	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	58,973,336 (GRCm38)	nonsense	probably null
R4700:Pdzph1	UTSW	17	58,974,546 (GRCm38)	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	58,973,530 (GRCm38)	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	58,974,756 (GRCm38)	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	58,922,609 (GRCm38)	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	58,974,880 (GRCm38)	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	58,973,947 (GRCm38)	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	58,879,151 (GRCm38)	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	58,885,867 (GRCm38)	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	58,974,412 (GRCm38)	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	58,973,746 (GRCm38)	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	58,973,627 (GRCm38)	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	58,974,436 (GRCm38)	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	58,974,126 (GRCm38)	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	58,879,159 (GRCm38)	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	58,967,341 (GRCm38)	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	58,932,460 (GRCm38)	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	58,932,460 (GRCm38)	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	58,879,110 (GRCm38)	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	58,932,481 (GRCm38)	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	58,975,143 (GRCm38)	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	58,973,014 (GRCm38)	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	58,884,013 (GRCm38)	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	58,880,720 (GRCm38)	nonsense	probably null
R8820:Pdzph1	UTSW	17	58,880,720 (GRCm38)	nonsense	probably null
R8839:Pdzph1	UTSW	17	58,950,242 (GRCm38)	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	58,888,038 (GRCm38)	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	58,974,339 (GRCm38)	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	58,974,604 (GRCm38)	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	58,973,540 (GRCm38)	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	58,954,400 (GRCm38)	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	58,973,130 (GRCm38)	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	58,950,267 (GRCm38)	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	58,974,903 (GRCm38)	nonsense	probably null
R9774:Pdzph1	UTSW	17	58,974,756 (GRCm38)	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	58,879,121 (GRCm38)	missense	probably damaging	1.00

Posted On

2016-08-02