Mutagenetix > Incidental Mutation

Incidental Mutation 'R8523:Pdzph1'

658687

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 #

R8523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58884013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 85 (L85F)

Ref Sequence

ENSEMBL: ENSMUSP00000135180 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: L1125F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: L1125F

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 damaging
Transcript: ENSMUST00000177360
AA Change: L85F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
AA Change: L85F

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Ammecr1l	T	C	18: 31,772,099	F131S	probably damaging	Het
Apbb1ip	A	C	2: 22,819,636	D35A	unknown	Het
Arhgap12	A	T	18: 6,111,976	D129E	probably benign	Het
Arpc1b	A	G	5: 145,124,682	D163G	probably damaging	Het
Atxn7l1	A	T	12: 33,346,024	T251S	probably benign	Het
BC030499	A	T	11: 78,293,384	M225L	probably benign	Het
Best1	T	C	19: 9,991,663	I230V	possibly damaging	Het
Brca2	A	G	5: 150,560,148	T2888A	possibly damaging	Het
Cad	T	C	5: 31,058,106	V87A	probably damaging	Het
Ccdc39	C	T	3: 33,815,411		probably null	Het
Clcn1	T	A	6: 42,307,589	C548*	probably null	Het
Col18a1	A	G	10: 77,054,234	S1678P	probably damaging	Het
Col6a6	T	C	9: 105,774,788	N1008S	possibly damaging	Het
Defb41	A	T	1: 18,251,295	C32S	possibly damaging	Het
Dnah6	T	C	6: 73,095,188	N2437S	probably damaging	Het
Drosha	T	C	15: 12,834,322	Y171H	unknown	Het
Ehd1	T	C	19: 6,294,583	L291P	probably damaging	Het
Eif3c	A	T	7: 126,547,897	H734Q	possibly damaging	Het
Erich5	A	T	15: 34,471,356	T244S	probably benign	Het
Fam186b	T	A	15: 99,279,732	H571L	probably benign	Het
Fer1l5	A	G	1: 36,387,190	K360E	probably benign	Het
Fga	A	T	3: 83,030,851	I178F	probably damaging	Het
Gale	A	T	4: 135,967,676	T320S	probably benign	Het
Gm11232	A	T	4: 71,757,228	S99T	probably benign	Het
Gm8251	A	T	1: 44,060,834	I368K	possibly damaging	Het
Gpr137	C	T	19: 6,940,435	W94*	probably null	Het
Grm7	T	A	6: 111,246,319	M440K	possibly damaging	Het
Hacd4	A	G	4: 88,435,049	F69L	probably damaging	Het
Hdac7	T	A	15: 97,808,370	H304L	probably damaging	Het
Herc1	T	A	9: 66,450,942	I2435N	probably benign	Het
Itgb7	G	A	15: 102,216,522	R755W	probably damaging	Het
Kdm3b	G	T	18: 34,793,076	A90S	probably benign	Het
Mcmdc2	G	A	1: 9,911,721	M1I	probably null	Het
Mitd1	A	G	1: 37,879,558		probably null	Het
Myh10	A	T	11: 68,797,409	Q1232L	probably benign	Het
Myo1a	C	A	10: 127,711,158	N362K	probably damaging	Het
N4bp1	G	A	8: 86,853,161	T671I	probably damaging	Het
Nav3	A	T	10: 109,823,277	D826E	probably damaging	Het
Negr1	C	T	3: 157,160,660	T282M	probably damaging	Het
Notch1	G	A	2: 26,464,905	H1837Y	possibly damaging	Het
Olfr1025-ps1	T	A	2: 85,918,063	I46N	probably damaging	Het
Olfr164	A	T	16: 19,286,101	V214E	probably benign	Het
Olfr603	A	T	7: 103,383,206	F265L	probably benign	Het
Olfr873	A	G	9: 20,300,797	N200S	probably benign	Het
Pard6a	T	C	8: 105,702,249	C47R	probably benign	Het
Parp2	T	C	14: 50,819,790		probably null	Het
Pck1	C	A	2: 173,157,271	A410D	probably damaging	Het
Piezo2	A	G	18: 63,146,802	S1P	probably damaging	Het
Pld1	T	A	3: 28,085,876	V615D	probably damaging	Het
Plekha7	T	G	7: 116,307,929	I23L	probably benign	Het
Prkcz	T	G	4: 155,262,511	D388A	probably damaging	Het
Rab36	A	G	10: 75,052,503	R260G	probably benign	Het
Reln	C	A	5: 22,004,231	R1116S	probably damaging	Het
Rundc3b	T	G	5: 8,569,505	K151Q	probably damaging	Het
Scaf11	A	G	15: 96,419,107	S859P	probably damaging	Het
Slc25a32	C	T	15: 39,099,886	R180H	probably benign	Het
Slc4a9	G	A	18: 36,532,143	G443E	possibly damaging	Het
Slmap	T	A	14: 26,429,810	K534N	probably damaging	Het
Sncaip	G	A	18: 52,838,016	A3T	probably damaging	Het
Spata31d1c	G	T	13: 65,033,177	S30I	probably damaging	Het
Srrm1	A	T	4: 135,324,002	V789E	unknown	Het
Srrm2	A	T	17: 23,808,515		probably benign	Het
St7l	T	C	3: 104,868,057	F83S	probably damaging	Het
Taf15	C	T	11: 83,484,852	Q48*	probably null	Het
Tek	A	T	4: 94,799,166	D172V	probably benign	Het
Tmem232	T	C	17: 65,478,371	Y198C	probably damaging	Het
Tns3	A	T	11: 8,448,779	V1191E	probably damaging	Het
Togaram1	A	G	12: 65,020,314	D1710G	probably damaging	Het
Trav16d-dv11	T	C	14: 53,047,665	I66T	probably benign	Het
Ttn	T	A	2: 76,746,945	T24535S	possibly damaging	Het
Ttn	A	T	2: 76,899,743	L911*	probably null	Het
Ube4a	A	G	9: 44,949,832	S227P	probably damaging	Het
Ubqln1	T	C	13: 58,191,755	T352A	probably benign	Het
Vmn1r174	C	T	7: 23,754,757	P283S	probably damaging	Het
Vmn1r59	T	C	7: 5,454,054	T236A	probably damaging	Het
Vmn2r3	T	C	3: 64,274,890	I463V	probably benign	Het
Wdr95	A	G	5: 149,573,996	D213G	probably damaging	Het
Zbtb49	T	A	5: 38,213,325	H404L	probably damaging	Het
Zfp879	A	G	11: 50,837,930	M79T	probably benign	Het
Zmiz2	G	A	11: 6,402,441	C600Y	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
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'- CAGTCAAACTAAGGTGTCTTTCCTG -3'
(R):5'- GCAGTTACTCAAGCAGCGAG -3'

Sequencing Primer
(F):5'- AACTAAGGTGTCTTTCCTGTTACTG -3'
(R):5'- ATTTGGGACAGTGACTCCCTAATGC -3'

Posted On

2021-01-18