Mutagenetix > Incidental Mutation

Incidental Mutation 'R0008:Pdzph1'

19146

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

038303-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0008 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

59185803-59298344 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 59229756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 81.0%
3x: 72.4%
10x: 49.2%
20x: 28.4%

Validation Efficiency

90% (82/91)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,882,346 (GRCm39)	K118R	possibly damaging	Het
Afap1l1	A	G	18: 61,889,976 (GRCm39)	S87P	probably benign	Het
Ankrd27	A	G	7: 35,303,125 (GRCm39)	K196R	probably benign	Het
Arrdc3	T	A	13: 81,039,194 (GRCm39)	I75N	probably damaging	Het
Calcrl	T	C	2: 84,203,618 (GRCm39)	D54G	probably benign	Het
Cnot1	G	T	8: 96,487,969 (GRCm39)	D562E	probably damaging	Het
Cp	T	A	3: 20,022,287 (GRCm39)	Y230N	probably damaging	Het
Dclre1c	T	C	2: 3,439,032 (GRCm39)	V64A	probably damaging	Het
Fat2	A	T	11: 55,202,075 (GRCm39)	L333H	probably damaging	Het
Hoxc11	T	C	15: 102,863,397 (GRCm39)	V146A	probably damaging	Het
Il11	T	C	7: 4,776,658 (GRCm39)	S111G	probably benign	Het
Ist1	A	T	8: 110,403,418 (GRCm39)	I273K	probably benign	Het
Lrp2	T	A	2: 69,346,895 (GRCm39)	N784Y	probably benign	Het
Lrp6	T	C	6: 134,462,716 (GRCm39)	E648G	probably damaging	Het
Mtbp	T	A	15: 55,449,889 (GRCm39)		probably benign	Het
Nat9	A	T	11: 115,075,941 (GRCm39)	Y27N	probably damaging	Het
Nipsnap3b	T	A	4: 53,015,112 (GRCm39)	L53Q	probably damaging	Het
Nlrp3	A	T	11: 59,449,274 (GRCm39)	H852L	probably benign	Het
Pax9	A	G	12: 56,756,528 (GRCm39)	T289A	probably benign	Het
Pcyt2	A	T	11: 120,506,695 (GRCm39)	I53N	possibly damaging	Het
Plekhm2	C	T	4: 141,369,704 (GRCm39)		probably benign	Het
Ppt1	T	C	4: 122,742,216 (GRCm39)		probably benign	Het
Prep	T	C	10: 44,991,174 (GRCm39)	V280A	probably benign	Het
Proser3	G	A	7: 30,239,563 (GRCm39)	R514C	probably damaging	Het
Rbm45	T	C	2: 76,208,742 (GRCm39)	Y293H	probably damaging	Het
Sdk2	A	G	11: 113,747,581 (GRCm39)	L643P	probably damaging	Het
Slc1a1	G	A	19: 28,878,884 (GRCm39)	G208S	probably benign	Het
Slc35b4	A	T	6: 34,135,452 (GRCm39)	Y287N	probably damaging	Het
Srgap2	T	C	1: 131,283,302 (GRCm39)	T260A	probably damaging	Het
Taf5	A	G	19: 47,064,301 (GRCm39)	S415G	possibly damaging	Het
Tdp2	T	G	13: 25,025,333 (GRCm39)		probably null	Het
Tnrc6a	G	A	7: 122,769,617 (GRCm39)	R469H	probably benign	Het
Tox	T	A	4: 6,842,411 (GRCm39)	M40L	probably benign	Het
Trib2	A	T	12: 15,859,930 (GRCm39)	H110Q	probably benign	Het
Trpa1	A	G	1: 14,973,439 (GRCm39)	I293T	possibly damaging	Het
Wdr93	A	G	7: 79,408,221 (GRCm39)	E234G	probably damaging	Het
Zfp385b	A	T	2: 77,246,291 (GRCm39)	S245R	probably benign	Het
Zfyve9	T	A	4: 108,575,902 (GRCm39)	E393V	possibly 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
IGL02660:Pdzph1	APN	17	59,187,642 (GRCm39)	missense	probably damaging	0.97
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
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

2013-03-25