Mutagenetix > Incidental Mutation

Incidental Mutation 'R3750:Pdzph1'

310161

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

040735-MU

Accession Numbers

Essential gene?

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

Stock #

R3750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59185803-59298344 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59280331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 650 (Y650*)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably null
Transcript: ENSMUST00000025064
AA Change: Y650*

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: Y650*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bub1b	T	A	2: 118,445,936 (GRCm39)	N319K	possibly damaging	Het
Clcn6	G	T	4: 148,108,644 (GRCm39)	C128*	probably null	Het
Col6a4	C	A	9: 105,897,864 (GRCm39)		probably null	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Dlg5	G	A	14: 24,215,328 (GRCm39)	A665V	probably damaging	Het
Foxd1	G	C	13: 98,492,424 (GRCm39)	A433P	unknown	Het
Hsd17b3	A	T	13: 64,210,993 (GRCm39)		probably null	Het
Kcnc4	A	G	3: 107,355,506 (GRCm39)	V314A	probably benign	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Marcks	G	A	10: 37,016,866 (GRCm39)		probably benign	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nefh	A	G	11: 4,889,937 (GRCm39)	V894A	probably benign	Het
Plce1	A	C	19: 38,766,343 (GRCm39)	I2109L	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Relch	C	T	1: 105,681,302 (GRCm39)	T1178I	probably damaging	Het
Rtca	A	T	3: 116,286,650 (GRCm39)	F327L	probably benign	Het
Scn2a	T	G	2: 65,544,115 (GRCm39)	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Skil	A	G	3: 31,170,983 (GRCm39)	N354S	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Spata31	G	T	13: 65,069,557 (GRCm39)	L568F	probably benign	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Tcp11l1	A	G	2: 104,528,887 (GRCm39)	I137T	probably damaging	Het
Ttn	G	A	2: 76,584,350 (GRCm39)	H22253Y	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Usp1	C	T	4: 98,822,357 (GRCm39)		probably null	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTGAATCGTCATCACTGGC -3'
(R):5'- GCTCTGTGGAATGGAATCAAAC -3'

Sequencing Primer
(F):5'- GGTGGACTCAGAGGAATT -3'
(R):5'- TGGAATCAAACAGAGGACCATGC -3'

Posted On

2015-04-17