Mutagenetix > Incidental Mutation

Incidental Mutation 'R7945:Pdzph1'

649319

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 #

R7945 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58932460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 958 (T958A)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: T958A

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

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T958A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,773,213	T346S	probably benign	Het
4932438A13Rik	G	A	3: 36,965,893	V2093I	probably benign	Het
Adprhl1	T	A	8: 13,221,929	R1610W	probably damaging	Het
Afg3l1	C	A	8: 123,489,922	A300E	probably benign	Het
Ano6	A	G	15: 95,941,309	Y423C	probably damaging	Het
BC005561	G	T	5: 104,518,547	V312F	possibly damaging	Het
Casp8ap2	A	G	4: 32,645,909	T1661A	probably benign	Het
Cdc42ep1	T	A	15: 78,847,773	S139R	possibly damaging	Het
Cep57	A	G	9: 13,818,931	Y104H	probably damaging	Het
Chrna4	T	C	2: 181,028,661	D434G	probably benign	Het
Clec1a	T	C	6: 129,432,187	S159G	probably benign	Het
Cltc	A	T	11: 86,737,141	N60K	probably benign	Het
Cpq	T	A	15: 33,594,236	D464E	probably benign	Het
Ctcfl	A	C	2: 173,118,658	V44G	probably benign	Het
Dcstamp	T	A	15: 39,760,401	*471R	probably null	Het
Disp2	G	A	2: 118,792,789	R1334H	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,178,361		probably benign	Het
Ephb3	A	G	16: 21,221,684	T811A	probably damaging	Het
Fam208b	A	T	13: 3,576,085	S1288R	probably benign	Het
Fbxo21	T	C	5: 118,008,147	Y612H	possibly damaging	Het
Gm4969	T	A	7: 19,100,086	K508N	unknown	Het
Gm8005	T	A	14: 42,438,373	D102V		Het
Golgb1	T	C	16: 36,914,104	S1279P	probably benign	Het
Hdgfl3	T	C	7: 81,933,958	Y22C	possibly damaging	Het
Hpse2	T	C	19: 43,384,809	N127S	probably benign	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Krtap27-1	T	C	16: 88,671,452	N68S	probably benign	Het
Lipo3	T	C	19: 33,556,431	M334V	probably benign	Het
Lrrc34	A	G	3: 30,642,737		probably null	Het
Ltbp1	T	G	17: 75,390,551	*1713G	probably null	Het
Lypd6b	A	G	2: 49,943,600	E84G	probably damaging	Het
Mitd1	T	C	1: 37,885,265	Y68C	probably damaging	Het
Mrgprx2	T	C	7: 48,483,005	T22A	probably benign	Het
Mroh4	C	T	15: 74,624,705	E278K	probably damaging	Het
Mtmr4	T	C	11: 87,604,428	V437A	probably damaging	Het
Neb	T	C	2: 52,271,348	D2144G	probably damaging	Het
Obscn	T	A	11: 59,093,409	E1740V	probably damaging	Het
Olfr1104	A	G	2: 87,022,313	V77A	probably benign	Het
Olfr1344	A	G	7: 6,440,355	T152A	probably benign	Het
Pcsk1	G	A	13: 75,132,092	A679T	probably benign	Het
Pdap1	G	A	5: 145,131,439	A138V	probably damaging	Het
Plekha5	T	A	6: 140,580,475	H946Q	possibly damaging	Het
Ppat	C	A	5: 76,915,391	V458L	probably benign	Het
Rock1	A	G	18: 10,116,831	L435P	probably damaging	Het
Rtn2	T	A	7: 19,287,062	S153R	probably benign	Het
Serpinb1c	A	T	13: 32,886,209	H123Q	probably benign	Het
Slc1a5	C	A	7: 16,789,882	R271S	possibly damaging	Het
Slc23a3	A	G	1: 75,129,396		probably null	Het
Slc7a6	C	T	8: 106,179,607	P157L	possibly damaging	Het
Syne2	A	T	12: 75,904,305	E410V	probably damaging	Het
Treh	T	C	9: 44,681,287	V63A	probably damaging	Het
Trim50	T	A	5: 135,353,302	W3R	probably benign	Het
Ttc6	T	G	12: 57,660,443	L712R	possibly damaging	Het
Ttn	G	T	2: 76,884,965	Q7928K	unknown	Het
Ugt3a1	T	C	15: 9,284,175		probably null	Het
Wapl	T	C	14: 34,677,148	I58T	probably benign	Het
Zgrf1	A	G	3: 127,562,760	E545G	probably benign	Het
Zmat4	T	A	8: 23,748,420	I6N	possibly damaging	Het
Zp3r	G	T	1: 130,596,823	P226Q	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
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
R8959:Pdzph1	UTSW	17	58974604	missense	probably damaging	0.97
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'- CAATGCCTGGTGTAGACGTGAG -3'
(R):5'- TCTAACTTGGAAGGAAAGGCTC -3'

Sequencing Primer
(F):5'- CTGGTGTAGACGTGAGATTTAATCAC -3'
(R):5'- GGCTCTATAGAAAAAGTCTCTCTCTC -3'

Posted On

2020-09-15