Mutagenetix > Incidental Mutation

Incidental Mutation 'R8959:Pdzph1'

682237

Institutional Source

Beutler Lab

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: 0.077) question?

Stock #

R8959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58974604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 228 (K228E)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: K228E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: K228E

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	T	C	19: 23,559,021	E174G	possibly damaging	Het
Acp4	G	T	7: 44,256,975	T51K	possibly damaging	Het
Angel2	C	T	1: 190,933,135	R88C	probably damaging	Het
Ankrd13b	G	A	11: 77,476,626	R181C	probably damaging	Het
Arntl2	T	C	6: 146,820,644	C238R	probably benign	Het
Brd3	C	T	2: 27,464,001	R33Q	probably damaging	Het
Ccdc106	T	A	7: 5,057,501	L20Q	probably benign	Het
Ccdc117	A	T	11: 5,541,421	V62D	possibly damaging	Het
Ccnt1	T	C	15: 98,543,215		probably benign	Het
Cmip	G	A	8: 117,411,315	V178I	probably benign	Het
Cnnm3	A	G	1: 36,519,015	E436G	probably damaging	Het
Dcaf11	A	G	14: 55,569,304	N488S	probably benign	Het
Dlg2	A	T	7: 90,852,719	K80*	probably null	Het
Dnase1l2	T	A	17: 24,442,668	D39V	probably damaging	Het
Dysf	A	G	6: 84,101,963	D708G	probably benign	Het
Enpep	A	T	3: 129,319,441	L278Q	probably damaging	Het
Ephb6	C	T	6: 41,613,359	A15V	probably benign	Het
Flt3	T	G	5: 147,366,964	Q388P	possibly damaging	Het
Hltf	A	G	3: 20,082,772	Y329C	probably damaging	Het
Hmcn2	C	T	2: 31,392,147	P1924S	probably damaging	Het
Iba57	A	G	11: 59,161,635	V122A	probably benign	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Irak2	T	A	6: 113,647,741	M66K	probably damaging	Het
Mkrn2os	G	C	6: 115,585,356	S215R	probably benign	Het
Mpped1	G	A	15: 83,792,141	R36Q	probably damaging	Het
Myh1	C	A	11: 67,211,502	A873E	probably benign	Het
Nedd9	G	T	13: 41,316,282	A465D	probably damaging	Het
Nr2f1	G	T	13: 78,189,754	Y257*	probably null	Het
Olfr1106	T	A	2: 87,049,207	T10S	possibly damaging	Het
Olfr771	A	G	10: 129,160,615	I123T	probably damaging	Het
Omd	A	G	13: 49,592,314	E400G	possibly damaging	Het
Patj	T	C	4: 98,591,975	S1306P	probably damaging	Het
Prl2c5	A	G	13: 13,190,807		probably benign	Het
Rad18	T	C	6: 112,628,483	E410G	probably damaging	Het
Rp1	T	A	1: 4,349,427		probably benign	Het
Runx3	C	T	4: 135,175,657	S366L	probably damaging	Het
Ssh3	T	A	19: 4,268,562	R30S	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,216,052		probably null	Het
Taf6l	A	G	19: 8,773,326	F128S	possibly damaging	Het
Tmc6	A	C	11: 117,770,467		probably null	Het
Trpc3	T	G	3: 36,655,109	Q406P	probably benign	Het
Uncx	C	A	5: 139,544,071	Y26*	probably null	Het
Urb1	T	C	16: 90,774,117	D1268G	probably benign	Het
Wif1	T	C	10: 121,096,052	C294R	probably damaging	Het
Zfp521	C	A	18: 13,846,080	L425F	probably damaging	Het
Zfp78	A	G	7: 6,379,381	R477G	probably damaging	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	58974796	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	58888110	missense	probably benign
IGL01413:Pdzph1	APN	17	58879152	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	58922715	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	58967339	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	58967511	splice site	probably benign
IGL02548:Pdzph1	APN	17	58973391	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58879073	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	58880647	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	58932483	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	58974069	missense	probably benign
IGL03304:Pdzph1	APN	17	58880646	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	58974234	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	58922761	splice site	probably benign
R0008:Pdzph1	UTSW	17	58922761	splice site	probably benign
R0498:Pdzph1	UTSW	17	58973830	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	58922727	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	58954479	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	58932432	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	58974087	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	58974747	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	58932445	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	58973752	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	58974813	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	58922583	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	58974097	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	58974097	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	58932412	splice site	probably benign
R2264:Pdzph1	UTSW	17	58888167	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	58922649	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	58973336	nonsense	probably null
R4700:Pdzph1	UTSW	17	58974546	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	58973530	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	58974756	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	58922609	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	58974880	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	58973947	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	58879151	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	58885867	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	58974412	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	58973746	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	58973627	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	58974436	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	58974126	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	58879159	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	58967341	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	58932460	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	58932460	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	58879110	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	58932481	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	58975143	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	58973014	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	58884013	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	58880720	nonsense	probably null
R8820:Pdzph1	UTSW	17	58880720	nonsense	probably null
R8839:Pdzph1	UTSW	17	58950242	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	58888038	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	58974339	missense	probably benign	0.00
R9043:Pdzph1	UTSW	17	58973540	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	58954400	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	58973130	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	58950267	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	58974903	nonsense	probably null
R9774:Pdzph1	UTSW	17	58974756	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	58879121	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATTAACACTACAGGGAGC -3'
(R):5'- CACCAACATTATTCTGTCCAGC -3'

Sequencing Primer
(F):5'- CATGAAAAGCATCTGAACTCTGGTG -3'
(R):5'- CATTATTCTGTCCAGCAAGTATGG -3'

Posted On

2021-08-31