Mutagenetix > Incidental Mutation

Incidental Mutation 'R8819:Pdzph1'

672950

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

068652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8819 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to C at 58880720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1168 (Y1168*)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025064] [ENSMUST00000177360]

AlphaFold

Q8BGR1

Predicted Effect

probably null
Transcript: ENSMUST00000025064
AA Change: Y1168*

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: Y1168*

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

probably null
Transcript: ENSMUST00000177360
AA Change: Y128*

SMART Domains

Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
AA Change: Y128*

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,726,454	F873L	possibly damaging	Het
4930504O13Rik	T	G	11: 58,446,303	S115R	probably damaging	Het
Abca17	A	G	17: 24,328,602	L266P	probably damaging	Het
Als2cl	T	C	9: 110,885,787	F125L	probably benign	Het
Arhgap33	T	C	7: 30,528,740	I406V	probably benign	Het
Bag5	T	C	12: 111,711,275	N38S	probably benign	Het
C530008M17Rik	CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG	C	5: 76,856,946		probably benign	Het
Clk2	T	A	3: 89,175,423	M392K	probably damaging	Het
Cngb1	C	T	8: 95,253,409		probably null	Het
Cps1	T	A	1: 67,228,280	N1402K	possibly damaging	Het
Cyp2u1	T	C	3: 131,298,367	H168R	probably damaging	Het
Dapl1	T	C	2: 59,504,712	L70P	probably damaging	Het
Ddr2	T	A	1: 169,977,914	K836*	probably null	Het
Dnmbp	C	T	19: 43,901,415	V638M	probably benign	Het
Dsel	A	G	1: 111,860,264	L847P	probably benign	Het
Eef1b2	T	C	1: 63,178,109		probably benign	Het
Fbll1	T	C	11: 35,797,975	K154E	probably benign	Het
Fbxw17	A	T	13: 50,433,315	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001	V174A	possibly damaging	Het
Frem1	C	A	4: 82,903,517	S2118I	probably damaging	Het
Gabrb3	T	C	7: 57,792,581	S212P	probably damaging	Het
Gimap9	A	G	6: 48,677,887	D136G	probably benign	Het
Gm8300	C	T	12: 87,517,140	R82*	probably null	Het
Hps1	T	C	19: 42,771,209	I55V	probably benign	Het
Huwe1	A	G	X: 151,886,997	K1482R	probably benign	Het
Ift46	C	T	9: 44,790,522	T283I	probably damaging	Het
Ldb2	G	A	5: 44,799,415	Q27*	probably null	Het
Lmcd1	T	A	6: 112,329,809	I314N	probably damaging	Het
Mctp2	C	A	7: 72,229,333	V259L	probably benign	Het
Midn	T	G	10: 80,154,400	S302A	probably damaging	Het
Ncor2	A	G	5: 125,029,227	V797A		Het
Npm2	A	G	14: 70,648,328	S146P	probably damaging	Het
Npr1	G	A	3: 90,464,894	R204C	probably damaging	Het
Olfr1364	G	A	13: 21,573,829	S209L	probably benign	Het
Olfr49	C	T	14: 54,282,613	G94D	probably benign	Het
Olfr665	T	A	7: 104,881,655	V316D	possibly damaging	Het
Paip2b	A	C	6: 83,814,756	M48R	probably damaging	Het
Pcsk2	T	A	2: 143,801,070	H422Q	probably damaging	Het
Peli2	G	A	14: 48,252,673	E201K	possibly damaging	Het
Prelp	T	C	1: 133,915,140	N89S	probably damaging	Het
Rapgef3	T	C	15: 97,748,657	N799S	probably benign	Het
Rel	C	T	11: 23,745,626	R219H	probably damaging	Het
Rimbp3	T	C	16: 17,210,907	S732P	probably benign	Het
Rock1	A	G	18: 10,070,626	F1196S	probably damaging	Het
Ryr3	G	A	2: 112,635,792	R4795W	probably damaging	Het
Ryr3	A	G	2: 112,859,724	V1180A	probably benign	Het
Scn11a	T	C	9: 119,816,520	I123V	probably benign	Het
Sema4b	G	C	7: 80,220,500	E475D	probably damaging	Het
Serinc2	C	A	4: 130,255,379	M343I	probably damaging	Het
Serinc5	G	T	13: 92,708,036	V429F	probably benign	Het
Tnfsf10	G	A	3: 27,335,302	V171M	probably benign	Het
Zfp27	T	C	7: 29,894,588	K651E	probably benign	Het
Zfp438	A	G	18: 5,213,383	I525T	possibly 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
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'- AGATAGCGGGGATGCATTTG -3'
(R):5'- AGCATTTTAGTGTCAACCTATGGG -3'

Sequencing Primer
(F):5'- GTTTGTCAAGGCTCACACAG -3'
(R):5'- TGGGATTTCAACTCAGGACC -3'

Posted On

2021-04-30