Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03304:Pdzph1'

416331

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 #

IGL03304

Quality Score

Status

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58880646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1193 (T1193I)

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: T1193I

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

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T1193I

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

possibly damaging
Transcript: ENSMUST00000177360
AA Change: T153I

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
AA Change: T153I

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,142,242 (GRCm38)	Y534C	probably damaging	Het
Acy1	A	T	9: 106,435,466 (GRCm38)		probably null	Het
Adamts4	T	C	1: 171,252,869 (GRCm38)		probably benign	Het
Anapc1	A	T	2: 128,627,113 (GRCm38)		probably benign	Het
Ank2	C	A	3: 126,955,870 (GRCm38)	E503D	probably damaging	Het
Aoah	A	G	13: 20,915,010 (GRCm38)		probably benign	Het
Atp9b	A	T	18: 80,917,877 (GRCm38)	Y40N	probably damaging	Het
Brd8	A	G	18: 34,614,580 (GRCm38)		probably benign	Het
Cd274	A	C	19: 29,384,102 (GRCm38)	E270A	probably damaging	Het
Cic	T	A	7: 25,284,849 (GRCm38)	V23E	probably damaging	Het
Cpeb4	T	C	11: 31,872,739 (GRCm38)	L151P	probably damaging	Het
D3Ertd751e	G	A	3: 41,746,729 (GRCm38)		probably null	Het
Diaph1	A	T	18: 37,854,573 (GRCm38)	D1043E	possibly damaging	Het
Hmcn1	T	A	1: 150,630,231 (GRCm38)	N3848I	probably damaging	Het
Ifi211	A	T	1: 173,907,707 (GRCm38)	M52K	probably damaging	Het
Itih4	T	C	14: 30,898,049 (GRCm38)	I747T	probably damaging	Het
Kif1bp	A	C	10: 62,559,303 (GRCm38)	L520R	probably damaging	Het
Lcat	T	C	8: 105,940,063 (GRCm38)	M276V	possibly damaging	Het
Mmp1b	A	T	9: 7,384,701 (GRCm38)	D282E	probably damaging	Het
Mst1r	T	A	9: 107,907,938 (GRCm38)	V265D	probably damaging	Het
Muc4	T	A	16: 32,751,439 (GRCm38)	L439*	probably null	Het
Nlrp4e	T	A	7: 23,353,343 (GRCm38)		probably null	Het
Ogfod2	A	T	5: 124,112,823 (GRCm38)	D24V	probably damaging	Het
Olfr1413	T	C	1: 92,573,303 (GRCm38)	V44A	probably benign	Het
Olfr1458	A	G	19: 13,102,741 (GRCm38)	S182P	probably damaging	Het
Olfr356	T	C	2: 36,937,548 (GRCm38)	L143P	probably damaging	Het
Pcnx	T	A	12: 81,982,029 (GRCm38)	W1661R	probably damaging	Het
Pias3	A	G	3: 96,700,031 (GRCm38)	T152A	possibly damaging	Het
Pla2g5	A	T	4: 138,804,569 (GRCm38)	Y41*	probably null	Het
Plxna4	A	G	6: 32,165,051 (GRCm38)		probably benign	Het
Ppp2r2a	A	C	14: 67,016,528 (GRCm38)	V397G	probably benign	Het
Ripor3	A	G	2: 167,980,928 (GRCm38)		probably benign	Het
Slc35a3	A	G	3: 116,687,311 (GRCm38)	L101P	probably damaging	Het
Sptan1	G	A	2: 29,986,493 (GRCm38)	R295Q	probably damaging	Het
Syce1	A	T	7: 140,777,710 (GRCm38)	V314D	possibly damaging	Het
Tex52	T	C	6: 128,379,532 (GRCm38)	Y63H	possibly damaging	Het
Tmem63a	T	A	1: 180,968,853 (GRCm38)	Y580*	probably null	Het
Ube2m	T	A	7: 13,035,758 (GRCm38)		probably benign	Het
Vmn1r50	G	T	6: 90,107,643 (GRCm38)	K123N	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
IGL03336:Pdzph1	APN	17	58,974,234 (GRCm38)	missense	probably benign	0.00
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