Mutagenetix > Incidental Mutation

Incidental Mutation 'R9092:Pdzph1'

691098

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9092 (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 58973130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 719 (D719G)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: D719G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: D719G

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: 99.8%
20x: 99.4%

Validation Efficiency

93% (56/60)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,061	D88G	possibly damaging	Het
Chl1	T	C	6: 103,668,854		probably benign	Het
Crtc3	T	C	7: 80,589,880	M575V	probably benign	Het
Cux1	T	A	5: 136,485,817	N22I	probably damaging	Het
Dcun1d2	G	A	8: 13,257,935	R248W	probably damaging	Het
Dlc1	G	T	8: 36,732,706	H7Q	probably benign	Het
Drd2	A	G	9: 49,395,704	D30G	probably benign	Het
Duxf3	GCCC	GCC	10: 58,231,122		probably null	Het
E2f7	T	C	10: 110,781,013	S705P	probably benign	Het
Ephb3	G	A	16: 21,222,464	S977N	probably benign	Het
F13a1	T	G	13: 36,906,019	D448A	probably benign	Het
Fam216b	T	C	14: 78,085,097	T56A	possibly damaging	Het
Fcho2	T	C	13: 98,749,883	T408A	probably benign	Het
Flvcr1	A	T	1: 191,008,167	V552E		Het
Gab3	TCT	TCTGCT	X: 74,999,996		probably benign	Het
Gab3	CTT	CTTGTT	X: 75,000,006		probably benign	Het
Galnt15	A	G	14: 32,058,239	K622E	probably benign	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,326,665		probably null	Het
Gjb3	A	AGATGCGCCCG	4: 127,326,678		probably null	Het
Gm5414	T	G	15: 101,627,910	R93S	probably benign	Het
Gtf2i	A	G	5: 134,289,387	*87Q	probably null	Het
Il7r	T	A	15: 9,510,184	H261L	probably benign	Het
Itsn1	T	A	16: 91,812,114	M250K	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lrrc47	C	A	4: 154,011,964	T72K	possibly damaging	Het
Map2k4	C	A	11: 65,690,773	R371L	probably benign	Het
Mmrn2	T	C	14: 34,396,630	F158L	probably benign	Het
Mtus1	A	T	8: 41,002,438	L242Q	probably damaging	Het
Myo5a	T	C	9: 75,147,132		probably null	Het
Noc3l	T	A	19: 38,810,043	K305I	probably damaging	Het
Olfr1208	T	C	2: 88,896,977	T207A	probably damaging	Het
Pag1	T	C	3: 9,699,788	T102A	probably benign	Het
Pam	A	G	1: 97,864,251	S482P	probably benign	Het
Pax1	T	G	2: 147,362,367	W23G	unknown	Het
Pcdhgb1	T	A	18: 37,680,936	V160D	possibly damaging	Het
Phlda1	T	C	10: 111,506,613	L70S	possibly damaging	Het
Pikfyve	G	A	1: 65,244,400	R732K	probably damaging	Het
Pkd1	G	T	17: 24,569,373	V702F	possibly damaging	Het
Pkhd1	A	G	1: 20,562,362	Y610H	probably benign	Het
Pofut1	T	G	2: 153,259,588	H87Q	probably benign	Het
Runx2	C	A	17: 44,735,556	D109Y	probably damaging	Het
Serpina1b	T	A	12: 103,730,281	I290F	probably benign	Het
Sez6	G	A	11: 77,974,295	E623K	possibly damaging	Het
Sh3tc1	T	C	5: 35,716,977	N198S	probably benign	Het
Slc27a6	C	A	18: 58,609,258	R515S	probably benign	Het
Sorbs3	C	T	14: 70,207,555	V25I	probably benign	Het
Speg	A	G	1: 75,422,734	E2275G	probably benign	Het
Tmem161b	C	T	13: 84,292,384	T307I	possibly damaging	Het
Tmem30a	T	C	9: 79,771,299	D361G	probably damaging	Het
Tmprss11c	T	C	5: 86,237,636	T326A	probably benign	Het
Tpbg	T	C	9: 85,844,863	V295A	possibly damaging	Het
Ulk4	A	T	9: 121,073,937	I1158N		Het
Utp20	C	A	10: 88,768,817	A1739S	probably benign	Het
Utp20	T	C	10: 88,775,318	N1379S	probably damaging	Het
Vmn1r66	T	A	7: 10,274,183	I308F	possibly damaging	Het
Vmn2r101	A	T	17: 19,589,545	T198S	probably benign	Het
Vps16	T	C	2: 130,439,673	I318T	probably damaging	Het
Wdr11	T	A	7: 129,624,727	W750R	probably damaging	Het
Zfp608	A	G	18: 54,898,576	I764T	probably benign	Het
Zfp708	C	A	13: 67,070,500	D420Y	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
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
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'- GCTTCTGAGGTGACAACAGTATG -3'
(R):5'- AACCCTAGAGAGTCGACCAG -3'

Sequencing Primer
(F):5'- CAACAGTATGTCCACAGGGTG -3'
(R):5'- CTAGAGAGTCGACCAGCTATCTG -3'

Posted On

2021-12-30