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: 0.091) question?

Stock #

IGL02660

Quality Score

Status

Chromosome

Chromosomal Location

59185803-59298344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59187642 bp (GRCm39)

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: 12,810,853 (GRCm39)	L341P	probably damaging	Het
Abcd3	A	C	3: 121,577,669 (GRCm39)	N206K	probably damaging	Het
Adamtsl1	A	G	4: 86,150,847 (GRCm39)	D335G	probably damaging	Het
Ankmy1	A	T	1: 92,823,816 (GRCm39)	M150K	probably damaging	Het
Ap3b2	T	C	7: 81,115,446 (GRCm39)	D680G	probably benign	Het
Asxl3	T	A	18: 22,657,402 (GRCm39)	V1804D	probably damaging	Het
Bace2	T	C	16: 97,216,340 (GRCm39)	V311A	probably damaging	Het
C2cd4c	T	A	10: 79,449,136 (GRCm39)	T4S	probably benign	Het
C2cd6	T	C	1: 59,090,389 (GRCm39)	Y456C	probably damaging	Het
Cbr1	A	G	16: 93,406,712 (GRCm39)	S143G	probably benign	Het
Ccdc191	A	G	16: 43,780,462 (GRCm39)	T815A	probably benign	Het
Cenpf	T	A	1: 189,386,979 (GRCm39)	Q1767L	probably damaging	Het
Col6a5	A	C	9: 105,814,085 (GRCm39)	N642K	unknown	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Ephb1	A	T	9: 101,918,291 (GRCm39)	I406N	possibly damaging	Het
F13a1	A	G	13: 37,127,868 (GRCm39)	V370A	possibly damaging	Het
Gm14403	A	T	2: 177,201,257 (GRCm39)	H401L	probably damaging	Het
Gp6	T	G	7: 4,387,997 (GRCm39)	R157S	probably benign	Het
Gucy2e	G	A	11: 69,122,833 (GRCm39)	T514I	probably benign	Het
H2ac1	T	C	13: 24,118,608 (GRCm39)	V55A	probably damaging	Het
Mok	A	G	12: 110,794,499 (GRCm39)	I63T	probably damaging	Het
Otop1	T	C	5: 38,445,349 (GRCm39)	V169A	probably damaging	Het
Plekha7	A	G	7: 115,756,809 (GRCm39)		probably benign	Het
Plekhm1	A	T	11: 103,264,920 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,435,787 (GRCm39)	Y587H	probably damaging	Het
Scaf1	C	A	7: 44,661,542 (GRCm39)		probably benign	Het
Sema3f	A	T	9: 107,561,183 (GRCm39)	F601Y	probably benign	Het
Shoc2	T	C	19: 53,976,452 (GRCm39)	I114T	probably benign	Het
Skint10	T	A	4: 112,622,227 (GRCm39)		probably benign	Het
Slc18b1	T	C	10: 23,686,850 (GRCm39)		probably benign	Het
Slco5a1	A	G	1: 13,059,860 (GRCm39)	L287P	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Syncrip	G	T	9: 88,338,457 (GRCm39)	R536S	probably benign	Het
Trim5	C	A	7: 103,915,425 (GRCm39)	R296L	probably damaging	Het
Vmn2r60	G	T	7: 41,791,720 (GRCm39)	E548*	probably null	Het
Wdr26	A	T	1: 181,026,463 (GRCm39)	W251R	probably damaging	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	59,281,791 (GRCm39)	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	59,195,105 (GRCm39)	missense	probably benign
IGL01413:Pdzph1	APN	17	59,186,147 (GRCm39)	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	59,229,710 (GRCm39)	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	59,274,334 (GRCm39)	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	59,274,506 (GRCm39)	splice site	probably benign
IGL02548:Pdzph1	APN	17	59,280,386 (GRCm39)	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	59,186,068 (GRCm39)	utr 3 prime	probably benign
IGL02749:Pdzph1	APN	17	59,239,478 (GRCm39)	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	59,281,064 (GRCm39)	missense	probably benign
IGL03304:Pdzph1	APN	17	59,187,641 (GRCm39)	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	59,281,229 (GRCm39)	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	59,229,756 (GRCm39)	splice site	probably benign
R0008:Pdzph1	UTSW	17	59,229,756 (GRCm39)	splice site	probably benign
R0498:Pdzph1	UTSW	17	59,280,825 (GRCm39)	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	59,229,722 (GRCm39)	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	59,261,474 (GRCm39)	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	59,239,427 (GRCm39)	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	59,281,082 (GRCm39)	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	59,281,742 (GRCm39)	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	59,239,440 (GRCm39)	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	59,280,747 (GRCm39)	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	59,281,808 (GRCm39)	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	59,229,578 (GRCm39)	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	59,281,092 (GRCm39)	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	59,281,092 (GRCm39)	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	59,239,407 (GRCm39)	splice site	probably benign
R2264:Pdzph1	UTSW	17	59,195,162 (GRCm39)	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	59,229,644 (GRCm39)	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	59,280,331 (GRCm39)	nonsense	probably null
R4700:Pdzph1	UTSW	17	59,281,541 (GRCm39)	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	59,280,525 (GRCm39)	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	59,281,751 (GRCm39)	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	59,229,604 (GRCm39)	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	59,281,875 (GRCm39)	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	59,280,942 (GRCm39)	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	59,186,146 (GRCm39)	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	59,192,862 (GRCm39)	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	59,281,407 (GRCm39)	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	59,280,741 (GRCm39)	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	59,280,622 (GRCm39)	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	59,281,431 (GRCm39)	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	59,281,121 (GRCm39)	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	59,186,154 (GRCm39)	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	59,274,336 (GRCm39)	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	59,239,455 (GRCm39)	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	59,239,455 (GRCm39)	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	59,186,105 (GRCm39)	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	59,239,476 (GRCm39)	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	59,282,138 (GRCm39)	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	59,280,009 (GRCm39)	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	59,191,008 (GRCm39)	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	59,187,715 (GRCm39)	nonsense	probably null
R8820:Pdzph1	UTSW	17	59,187,715 (GRCm39)	nonsense	probably null
R8839:Pdzph1	UTSW	17	59,257,237 (GRCm39)	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	59,195,033 (GRCm39)	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	59,281,334 (GRCm39)	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	59,281,599 (GRCm39)	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	59,280,535 (GRCm39)	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	59,261,395 (GRCm39)	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	59,280,125 (GRCm39)	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	59,257,262 (GRCm39)	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	59,281,898 (GRCm39)	nonsense	probably null
R9774:Pdzph1	UTSW	17	59,281,751 (GRCm39)	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	59,186,116 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16