Mutagenetix > Incidental Mutation

Incidental Mutation 'R1463:Pdzph1'

159271

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

039517-MU

Accession Numbers

Essential gene?

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

Stock #

R1463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58932445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 963 (A963T)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025064
AA Change: A963T

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

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: A963T

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

97% (97/100)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,314,558 (GRCm38)	I299N	probably damaging	Het
Abcc8	T	C	7: 46,154,512 (GRCm38)	T413A	probably benign	Het
Actc1	G	A	2: 114,049,529 (GRCm38)	S201F	probably damaging	Het
Adam30	G	A	3: 98,162,525 (GRCm38)	C558Y	probably damaging	Het
Adcy4	T	A	14: 55,778,939 (GRCm38)	I352F	probably damaging	Het
Adgrl4	A	T	3: 151,510,596 (GRCm38)	D472V	probably damaging	Het
Afap1l2	T	A	19: 56,930,151 (GRCm38)	M117L	probably benign	Het
AI597479	T	C	1: 43,113,229 (GRCm38)	V229A	probably damaging	Het
Ascc1	T	C	10: 60,062,516 (GRCm38)	V267A	probably benign	Het
Asxl3	A	G	18: 22,516,753 (GRCm38)	S600G	possibly damaging	Het
Atg14	T	C	14: 47,548,994 (GRCm38)	I268V	probably benign	Het
Bcas1	C	T	2: 170,418,664 (GRCm38)	V32I	probably benign	Het
Cacna1c	G	T	6: 118,593,994 (GRCm38)	D2106E	probably benign	Het
Cacna1i	A	G	15: 80,379,054 (GRCm38)	H1440R	possibly damaging	Het
Catsper2	G	A	2: 121,406,446 (GRCm38)	T240M	probably damaging	Het
Ccn4	T	A	15: 66,919,271 (GRCm38)	N307K	possibly damaging	Het
Cd163	A	G	6: 124,311,447 (GRCm38)	E279G	probably damaging	Het
Cdx2	C	T	5: 147,306,660 (GRCm38)	S108N	probably benign	Het
Cenpf	A	T	1: 189,654,739 (GRCm38)	N1781K	probably damaging	Het
Cgref1	T	A	5: 30,935,994 (GRCm38)		probably benign	Het
Clcn4	C	T	7: 7,296,764 (GRCm38)	W22*	probably null	Het
Cntn2	A	G	1: 132,521,137 (GRCm38)		probably null	Het
Cntn5	C	T	9: 9,673,796 (GRCm38)		probably null	Het
Cpeb3	A	G	19: 37,139,100 (GRCm38)	M377T	probably benign	Het
Cryge	T	A	1: 65,048,838 (GRCm38)	R135*	probably null	Het
Ctdsp2	C	A	10: 126,993,921 (GRCm38)		probably benign	Het
Ctsll3	G	A	13: 60,801,275 (GRCm38)		probably benign	Het
Cuzd1	C	A	7: 131,316,642 (GRCm38)	G189C	probably damaging	Het
Dmbt1	T	A	7: 131,109,637 (GRCm38)		probably null	Het
Dnai4	T	A	4: 103,087,418 (GRCm38)	L245F	possibly damaging	Het
Dnajc13	A	T	9: 104,178,940 (GRCm38)	S1587R	probably damaging	Het
Dock4	GCTCAGTGTATC	GC	12: 40,816,325 (GRCm38)		probably null	Het
Dock6	T	C	9: 21,831,906 (GRCm38)	H701R	probably damaging	Het
Edem3	A	G	1: 151,807,510 (GRCm38)	T646A	possibly damaging	Het
Esrra	A	C	19: 6,912,455 (GRCm38)	D160E	probably benign	Het
Fbn2	T	C	18: 58,010,380 (GRCm38)	T2868A	probably benign	Het
Galnt7	T	A	8: 57,652,858 (GRCm38)	M41L	probably benign	Het
Gbf1	T	C	19: 46,271,545 (GRCm38)		probably benign	Het
Glyat	A	G	19: 12,648,103 (GRCm38)	N63S	probably damaging	Het
Gm9376	A	T	14: 118,267,482 (GRCm38)	M109L	probably benign	Het
H2-M10.3	A	G	17: 36,366,720 (GRCm38)	V222A	probably damaging	Het
Ifna12	T	G	4: 88,602,956 (GRCm38)	D118A	possibly damaging	Het
Inpp5j	T	C	11: 3,501,147 (GRCm38)	M501V	probably benign	Het
Itpr3	C	T	17: 27,117,154 (GRCm38)		probably benign	Het
Ivns1abp	A	G	1: 151,361,540 (GRCm38)	N527S	probably benign	Het
Kif13a	T	C	13: 46,929,612 (GRCm38)	T4A	possibly damaging	Het
Kif3b	T	C	2: 153,330,153 (GRCm38)	*748Q	probably null	Het
Klf8	C	T	X: 153,384,681 (GRCm38)	Q241*	probably null	Het
Kras	A	T	6: 145,225,061 (GRCm38)		probably benign	Het
Lamc3	C	A	2: 31,887,411 (GRCm38)	T23K	probably benign	Het
Lrrc74b	T	A	16: 17,559,873 (GRCm38)	H47L	probably benign	Het
Ly75	A	G	2: 60,368,757 (GRCm38)		probably null	Het
Map3k21	G	A	8: 125,942,137 (GRCm38)	G821S	probably benign	Het
Mettl14	A	G	3: 123,374,073 (GRCm38)		probably benign	Het
Mettl5	T	C	2: 69,885,246 (GRCm38)		probably benign	Het
Mier3	A	G	13: 111,711,755 (GRCm38)	D301G	probably damaging	Het
Mipep	T	C	14: 60,788,146 (GRCm38)		probably benign	Het
Mmp21	T	C	7: 133,675,859 (GRCm38)		probably null	Het
Msh4	A	G	3: 153,857,570 (GRCm38)	L723P	probably damaging	Het
Muc5b	T	C	7: 141,859,080 (GRCm38)	V1921A	unknown	Het
Myo1e	G	A	9: 70,338,756 (GRCm38)	E410K	possibly damaging	Het
Nav2	T	G	7: 49,535,962 (GRCm38)	I951S	probably damaging	Het
Npc1	G	A	18: 12,191,830 (GRCm38)	T1202I	probably damaging	Het
Or10j3	A	G	1: 173,203,367 (GRCm38)	K4E	probably benign	Het
Or2ab1	A	G	11: 58,598,121 (GRCm38)	R242G	probably damaging	Het
Or5a3	C	T	19: 12,422,888 (GRCm38)	T193I	probably benign	Het
Pacc1	T	C	1: 191,328,289 (GRCm38)		probably benign	Het
Patl2	C	T	2: 122,123,735 (GRCm38)	V452M	probably benign	Het
Pcdh18	A	G	3: 49,755,405 (GRCm38)	V487A	probably damaging	Het
Pkd1l1	C	T	11: 8,916,302 (GRCm38)	V518M	probably damaging	Het
Plcd3	A	G	11: 103,078,373 (GRCm38)	F256S	probably damaging	Het
Proc	T	C	18: 32,133,438 (GRCm38)	D112G	possibly damaging	Het
Ptges2	T	A	2: 32,400,862 (GRCm38)		probably null	Het
Pth2r	A	T	1: 65,363,277 (GRCm38)	R312W	probably damaging	Het
Pttg1ip2	C	A	5: 5,452,073 (GRCm38)		probably benign	Het
Rbbp6	C	T	7: 122,992,453 (GRCm38)	H546Y	possibly damaging	Het
Retreg2	A	G	1: 75,146,520 (GRCm38)	E364G	probably damaging	Het
Rxrb	G	A	17: 34,034,160 (GRCm38)	C185Y	probably damaging	Het
Septin2	T	A	1: 93,499,315 (GRCm38)	N133K	possibly damaging	Het
Serpina3b	T	A	12: 104,138,710 (GRCm38)	S382T	probably benign	Het
Serpinb9e	T	C	13: 33,255,116 (GRCm38)	F175S	probably benign	Het
Slc19a2	C	T	1: 164,257,197 (GRCm38)	H219Y	probably damaging	Het
Slfn9	A	T	11: 82,981,698 (GRCm38)	D737E	possibly damaging	Het
Snx31	T	C	15: 36,539,298 (GRCm38)	E144G	probably null	Het
Sp2	A	G	11: 96,963,456 (GRCm38)		probably benign	Het
Spag9	C	T	11: 94,116,837 (GRCm38)	L1117F	probably damaging	Het
Spata31e2	G	T	1: 26,682,141 (GRCm38)	Y1319*	probably null	Het
Syndig1l	A	T	12: 84,680,363 (GRCm38)		probably benign	Het
Sypl1	A	T	12: 32,974,333 (GRCm38)		probably benign	Het
Tmem169	T	C	1: 72,300,696 (GRCm38)	M95T	probably benign	Het
Tnfrsf17	A	G	16: 11,315,202 (GRCm38)	Y48C	possibly damaging	Het
Ttn	A	T	2: 76,827,515 (GRCm38)		probably benign	Het
Uap1	G	C	1: 170,150,383 (GRCm38)	H366Q	probably benign	Het
Ulbp1	A	G	10: 7,446,557 (GRCm38)		probably benign	Het
Urb2	T	C	8: 124,030,908 (GRCm38)	V1118A	probably benign	Het
Usp54	T	C	14: 20,550,190 (GRCm38)	N1493S	probably benign	Het
Vmn1r129	C	A	7: 21,360,730 (GRCm38)	V188F	probably benign	Het
Vmn1r226	A	T	17: 20,687,732 (GRCm38)	L75F	probably benign	Het
Yes1	T	A	5: 32,651,702 (GRCm38)	S137R	probably benign	Het
Zfp804b	A	G	5: 7,179,372 (GRCm38)		probably benign	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	58,974,796 (GRCm38)	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	58,888,110 (GRCm38)	missense	probably benign
IGL01413:Pdzph1	APN	17	58,879,152 (GRCm38)	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	58,922,715 (GRCm38)	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	58,967,339 (GRCm38)	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	58,967,511 (GRCm38)	splice site	probably benign
IGL02548:Pdzph1	APN	17	58,973,391 (GRCm38)	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58,879,073 (GRCm38)	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	58,880,647 (GRCm38)	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	58,932,483 (GRCm38)	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	58,974,069 (GRCm38)	missense	probably benign
IGL03304:Pdzph1	APN	17	58,880,646 (GRCm38)	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	58,974,234 (GRCm38)	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	58,922,761 (GRCm38)	splice site	probably benign
R0008:Pdzph1	UTSW	17	58,922,761 (GRCm38)	splice site	probably benign
R0498:Pdzph1	UTSW	17	58,973,830 (GRCm38)	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	58,922,727 (GRCm38)	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	58,954,479 (GRCm38)	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	58,932,432 (GRCm38)	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	58,974,087 (GRCm38)	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	58,974,747 (GRCm38)	missense	probably benign	0.10
R1766:Pdzph1	UTSW	17	58,973,752 (GRCm38)	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	58,974,813 (GRCm38)	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	58,922,583 (GRCm38)	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	58,974,097 (GRCm38)	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	58,974,097 (GRCm38)	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	58,932,412 (GRCm38)	splice site	probably benign
R2264:Pdzph1	UTSW	17	58,888,167 (GRCm38)	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	58,922,649 (GRCm38)	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	58,973,336 (GRCm38)	nonsense	probably null
R4700:Pdzph1	UTSW	17	58,974,546 (GRCm38)	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	58,973,530 (GRCm38)	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	58,974,756 (GRCm38)	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	58,922,609 (GRCm38)	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	58,974,880 (GRCm38)	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	58,973,947 (GRCm38)	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	58,879,151 (GRCm38)	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	58,885,867 (GRCm38)	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	58,974,412 (GRCm38)	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	58,973,746 (GRCm38)	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	58,973,627 (GRCm38)	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	58,974,436 (GRCm38)	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	58,974,126 (GRCm38)	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	58,879,159 (GRCm38)	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	58,967,341 (GRCm38)	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	58,932,460 (GRCm38)	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	58,932,460 (GRCm38)	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	58,879,110 (GRCm38)	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	58,932,481 (GRCm38)	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	58,975,143 (GRCm38)	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	58,973,014 (GRCm38)	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	58,884,013 (GRCm38)	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	58,880,720 (GRCm38)	nonsense	probably null
R8820:Pdzph1	UTSW	17	58,880,720 (GRCm38)	nonsense	probably null
R8839:Pdzph1	UTSW	17	58,950,242 (GRCm38)	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	58,888,038 (GRCm38)	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	58,974,339 (GRCm38)	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	58,974,604 (GRCm38)	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	58,973,540 (GRCm38)	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	58,954,400 (GRCm38)	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	58,973,130 (GRCm38)	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	58,950,267 (GRCm38)	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	58,974,903 (GRCm38)	nonsense	probably null
R9774:Pdzph1	UTSW	17	58,974,756 (GRCm38)	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	58,879,121 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTCACCTTGTGGGCAGCAATG -3'
(R):5'- GCCTCTCAAATGCCTGGCTGAATG -3'

Sequencing Primer
(F):5'- CAGCAATGCCTGGTGTAGAC -3'
(R):5'- ctctctctctctctctctctctc -3'

Posted On

2014-03-14