Mutagenetix > Incidental Mutation

Incidental Mutation 'R9750:Pdzd8'

732493

Institutional Source

Beutler Lab

Gene Symbol

Pdzd8

Ensembl Gene

ENSMUSG00000074746

Gene Name

PDZ domain containing 8

Synonyms

Pdzk8, A630041P07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9750 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59285610-59334212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59289684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 572 (V572A)

Ref Sequence

ENSEMBL: ENSMUSP00000096880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099274]

AlphaFold

B9EJ80

Predicted Effect

probably benign
Transcript: ENSMUST00000099274
AA Change: V572A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: V572A

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
PDZ	374	448	2.02e-10	SMART
low complexity region	582	596	N/A	INTRINSIC
low complexity region	802	814	N/A	INTRINSIC
C1	834	884	8.31e-8	SMART
coiled coil region	1021	1057	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	G	T	11: 50,494,333 (GRCm39)	V136L	probably benign	Het
Adamtsl3	G	T	7: 82,244,589 (GRCm39)	L1348F	probably benign	Het
Amotl1	T	A	9: 14,504,102 (GRCm39)	T369S	probably benign	Het
Anapc2	T	G	2: 25,174,982 (GRCm39)	V700G	possibly damaging	Het
Aox3	C	T	1: 58,215,648 (GRCm39)	Q1027*	probably null	Het
Ap5m1	A	G	14: 49,317,756 (GRCm39)	T338A	probably benign	Het
Carf	T	A	1: 60,171,158 (GRCm39)	Y240*	probably null	Het
Ccl21a	G	A	4: 42,773,875 (GRCm39)	A15V	probably benign	Het
Dcst1	A	T	3: 89,261,462 (GRCm39)	I429N	probably damaging	Het
Esco1	A	G	18: 10,594,510 (GRCm39)	S259P	probably benign	Het
Esp15	A	G	17: 39,955,603 (GRCm39)	M57V	probably benign	Het
Fat3	A	G	9: 15,915,157 (GRCm39)	I1597T	probably benign	Het
Fbxo38	T	C	18: 62,674,061 (GRCm39)	S7G	probably benign	Het
Gm11562	G	A	11: 99,510,856 (GRCm39)	P115S	unknown	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Kansl1l	G	C	1: 66,817,150 (GRCm39)	I403M	probably benign	Het
Kmt2a	T	C	9: 44,747,499 (GRCm39)	H1505R	unknown	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lpgat1	T	A	1: 191,510,587 (GRCm39)	F391I	probably benign	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mon1a	T	A	9: 107,778,778 (GRCm39)	V334E	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nup210l	A	T	3: 90,117,659 (GRCm39)		probably null	Het
Obscn	G	A	11: 59,024,682 (GRCm39)	R453W	probably benign	Het
Or1d2	A	G	11: 74,255,858 (GRCm39)	D121G	possibly damaging	Het
Pgr	T	C	9: 8,901,918 (GRCm39)	S484P	possibly damaging	Het
Pygl	G	T	12: 70,245,303 (GRCm39)	S473R	possibly damaging	Het
Samd1	T	C	8: 84,725,989 (GRCm39)	V410A	probably damaging	Het
Serpina3j	T	G	12: 104,280,942 (GRCm39)	H38Q	probably benign	Het
Shprh	A	G	10: 11,040,204 (GRCm39)	Y559C	probably damaging	Het
Skint5	T	A	4: 113,727,866 (GRCm39)	D426V	unknown	Het
Slc25a21	T	C	12: 56,785,382 (GRCm39)	K158R	probably benign	Het
Smc1b	A	T	15: 85,016,106 (GRCm39)	N11K	probably damaging	Het
St18	T	C	1: 6,873,216 (GRCm39)	V317A	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tcap	A	G	11: 98,275,228 (GRCm39)	T121A	probably benign	Het
Tgs1	C	A	4: 3,585,869 (GRCm39)	Q249K	probably damaging	Het
Tiam1	A	T	16: 89,695,394 (GRCm39)	L21Q	probably damaging	Het
Tmem131l	G	A	3: 83,831,358 (GRCm39)	A858V	probably damaging	Het
Trpm3	G	A	19: 22,903,495 (GRCm39)	R927H	probably benign	Het
Wdfy3	T	A	5: 102,077,960 (GRCm39)	H870L	probably benign	Het
Zfp518a	T	A	19: 40,903,889 (GRCm39)	C1273S	possibly damaging	Het
Zfp960	A	T	17: 17,307,898 (GRCm39)	H204L	probably damaging	Het

Other mutations in Pdzd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Pdzd8	APN	19	59,288,218 (GRCm39)	missense	probably damaging	1.00
IGL01321:Pdzd8	APN	19	59,289,961 (GRCm39)	missense	probably benign
IGL01865:Pdzd8	APN	19	59,288,077 (GRCm39)	missense	possibly damaging	0.92
IGL02044:Pdzd8	APN	19	59,303,724 (GRCm39)	missense	possibly damaging	0.85
IGL02119:Pdzd8	APN	19	59,288,922 (GRCm39)	missense	possibly damaging	0.95
IGL02186:Pdzd8	APN	19	59,289,060 (GRCm39)	missense	probably damaging	1.00
IGL02389:Pdzd8	APN	19	59,289,825 (GRCm39)	missense	probably benign	0.00
IGL02479:Pdzd8	APN	19	59,288,215 (GRCm39)	nonsense	probably null
IGL02713:Pdzd8	APN	19	59,333,890 (GRCm39)	missense	probably damaging	0.98
IGL02958:Pdzd8	APN	19	59,288,804 (GRCm39)	nonsense	probably null
IGL02966:Pdzd8	APN	19	59,289,291 (GRCm39)	missense	probably damaging	1.00
IGL03166:Pdzd8	APN	19	59,288,940 (GRCm39)	missense	probably damaging	1.00
citadel	UTSW	19	59,287,957 (GRCm39)	makesense	probably null
Eleventh_hour	UTSW	19	59,293,662 (GRCm39)	missense	probably damaging	1.00
keep	UTSW	19	59,289,783 (GRCm39)	nonsense	probably null
Stronghold	UTSW	19	59,333,784 (GRCm39)	nonsense	probably null
R0018:Pdzd8	UTSW	19	59,289,105 (GRCm39)	missense	probably damaging	1.00
R0038:Pdzd8	UTSW	19	59,288,028 (GRCm39)	missense	possibly damaging	0.54
R0196:Pdzd8	UTSW	19	59,289,563 (GRCm39)	missense	probably benign	0.00
R0233:Pdzd8	UTSW	19	59,288,811 (GRCm39)	missense	probably damaging	0.99
R0233:Pdzd8	UTSW	19	59,288,811 (GRCm39)	missense	probably damaging	0.99
R0418:Pdzd8	UTSW	19	59,289,361 (GRCm39)	missense	probably damaging	1.00
R0736:Pdzd8	UTSW	19	59,333,365 (GRCm39)	missense	probably damaging	0.99
R1456:Pdzd8	UTSW	19	59,288,904 (GRCm39)	missense	probably benign	0.01
R1709:Pdzd8	UTSW	19	59,289,771 (GRCm39)	missense	probably benign
R1965:Pdzd8	UTSW	19	59,288,554 (GRCm39)	missense	probably benign	0.37
R2155:Pdzd8	UTSW	19	59,288,853 (GRCm39)	missense	probably damaging	1.00
R3077:Pdzd8	UTSW	19	59,293,588 (GRCm39)	critical splice donor site	probably null
R3411:Pdzd8	UTSW	19	59,333,845 (GRCm39)	missense	probably damaging	1.00
R4345:Pdzd8	UTSW	19	59,288,560 (GRCm39)	missense	probably benign	0.00
R4354:Pdzd8	UTSW	19	59,333,913 (GRCm39)	missense	probably benign
R4504:Pdzd8	UTSW	19	59,333,880 (GRCm39)	missense	probably damaging	1.00
R4642:Pdzd8	UTSW	19	59,293,662 (GRCm39)	missense	probably damaging	1.00
R4705:Pdzd8	UTSW	19	59,333,743 (GRCm39)	missense	possibly damaging	0.80
R4773:Pdzd8	UTSW	19	59,289,292 (GRCm39)	missense	probably damaging	1.00
R4876:Pdzd8	UTSW	19	59,289,236 (GRCm39)	nonsense	probably null
R5176:Pdzd8	UTSW	19	59,333,389 (GRCm39)	missense	probably damaging	1.00
R5267:Pdzd8	UTSW	19	59,289,458 (GRCm39)	missense	probably damaging	1.00
R5707:Pdzd8	UTSW	19	59,288,057 (GRCm39)	missense	probably benign	0.00
R5766:Pdzd8	UTSW	19	59,288,972 (GRCm39)	missense	possibly damaging	0.65
R5903:Pdzd8	UTSW	19	59,333,718 (GRCm39)	missense	possibly damaging	0.58
R6036:Pdzd8	UTSW	19	59,293,641 (GRCm39)	missense	probably damaging	1.00
R6036:Pdzd8	UTSW	19	59,293,641 (GRCm39)	missense	probably damaging	1.00
R6238:Pdzd8	UTSW	19	59,288,994 (GRCm39)	missense	probably benign	0.05
R6360:Pdzd8	UTSW	19	59,289,415 (GRCm39)	missense	probably benign	0.10
R6509:Pdzd8	UTSW	19	59,333,298 (GRCm39)	missense	probably benign	0.01
R6674:Pdzd8	UTSW	19	59,289,801 (GRCm39)	missense	probably damaging	1.00
R6808:Pdzd8	UTSW	19	59,287,957 (GRCm39)	makesense	probably null
R6902:Pdzd8	UTSW	19	59,289,829 (GRCm39)	missense	possibly damaging	0.91
R7017:Pdzd8	UTSW	19	59,333,784 (GRCm39)	nonsense	probably null
R7088:Pdzd8	UTSW	19	59,333,389 (GRCm39)	missense	probably damaging	1.00
R7116:Pdzd8	UTSW	19	59,288,125 (GRCm39)	missense	probably damaging	1.00
R7158:Pdzd8	UTSW	19	59,288,589 (GRCm39)	missense	probably damaging	1.00
R7237:Pdzd8	UTSW	19	59,333,571 (GRCm39)	missense	probably damaging	1.00
R7251:Pdzd8	UTSW	19	59,289,077 (GRCm39)	missense	possibly damaging	0.96
R7314:Pdzd8	UTSW	19	59,289,783 (GRCm39)	nonsense	probably null
R7699:Pdzd8	UTSW	19	59,333,373 (GRCm39)	missense	probably damaging	1.00
R7751:Pdzd8	UTSW	19	59,333,208 (GRCm39)	missense	probably damaging	0.98
R7759:Pdzd8	UTSW	19	59,288,358 (GRCm39)	missense	probably damaging	1.00
R7784:Pdzd8	UTSW	19	59,316,295 (GRCm39)	missense	probably damaging	1.00
R7917:Pdzd8	UTSW	19	59,333,518 (GRCm39)	missense	probably damaging	0.96
R9364:Pdzd8	UTSW	19	59,333,574 (GRCm39)	missense	probably damaging	1.00
R9368:Pdzd8	UTSW	19	59,289,219 (GRCm39)	nonsense	probably null
R9406:Pdzd8	UTSW	19	59,333,245 (GRCm39)	missense
R9548:Pdzd8	UTSW	19	59,289,826 (GRCm39)	missense	probably benign	0.13
R9554:Pdzd8	UTSW	19	59,333,574 (GRCm39)	missense	probably damaging	1.00
R9688:Pdzd8	UTSW	19	59,333,683 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCACTTGCTTCTCGGCAGG -3'
(R):5'- CGAGTGATGTCAGAGTACAGAC -3'

Sequencing Primer
(F):5'- CAGGTTTATCTGCAGGAGGAG -3'
(R):5'- ACAGCCGTTGAGTCACAGTC -3'

Posted On

2022-11-14