Mutagenetix > Incidental Mutation

Incidental Mutation 'R6674:Pdzd8'

527227

Institutional Source

Beutler Lab

Gene Symbol

Pdzd8

Ensembl Gene

ENSMUSG00000074746

Gene Name

PDZ domain containing 8

Synonyms

Pdzk8, A630041P07Rik

MMRRC Submission

044794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59285610-59334212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59289801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 533 (P533L)

Ref Sequence

ENSEMBL: ENSMUSP00000096880 (fasta)

Gene Model

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

AlphaFold

B9EJ80

Predicted Effect

probably damaging
Transcript: ENSMUST00000099274
AA Change: P533L

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

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: P533L

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: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh3	T	C	19: 45,963,437 (GRCm39)	E92G	probably benign	Het
Cluh	A	G	11: 74,557,053 (GRCm39)	H1005R	probably damaging	Het
Coro2b	C	T	9: 62,339,709 (GRCm39)	R13H	probably damaging	Het
Depdc1a	T	A	3: 159,232,344 (GRCm39)	N698K	probably benign	Het
Dusp12	G	A	1: 170,707,317 (GRCm39)	T257I	probably benign	Het
Esf1	T	A	2: 139,962,726 (GRCm39)	K782*	probably null	Het
Extl1	T	C	4: 134,085,438 (GRCm39)	T560A	probably damaging	Het
Gpr179	C	A	11: 97,238,231 (GRCm39)		probably null	Het
Krt90	G	A	15: 101,465,761 (GRCm39)	L287F	probably damaging	Het
Mertk	T	C	2: 128,571,277 (GRCm39)	V77A	probably benign	Het
Nr4a2	C	T	2: 57,002,436 (GRCm39)	A6T	probably damaging	Het
Plxnb1	G	A	9: 108,937,214 (GRCm39)	G1132R	probably benign	Het
Ppfia2	A	G	10: 106,763,633 (GRCm39)	I1209V	probably benign	Het
Slc26a9	A	T	1: 131,692,756 (GRCm39)	Q696L	probably benign	Het
Sphkap	A	T	1: 83,255,555 (GRCm39)	S444R	probably benign	Het
Tmem144	A	G	3: 79,746,490 (GRCm39)	F22L	possibly damaging	Het
Tomm20l	A	G	12: 71,158,307 (GRCm39)	D30G	probably damaging	Het
Trpc2	A	G	7: 101,745,264 (GRCm39)	T827A	probably benign	Het
Unc50	T	C	1: 37,476,539 (GRCm39)	V208A	probably benign	Het
Vmn1r125	T	C	7: 21,006,638 (GRCm39)	S179P	probably damaging	Het
Vmn1r225	A	C	17: 20,723,377 (GRCm39)	I273L	probably benign	Het
Vmn2r117	G	A	17: 23,679,023 (GRCm39)	Q734*	probably null	Het
Vmn2r88	A	G	14: 51,651,795 (GRCm39)	I378V	probably benign	Het
Zfp507	C	T	7: 35,494,159 (GRCm39)	V295I	probably damaging	Het
Zfp981	A	G	4: 146,619,950 (GRCm39)	R35G	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
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
R9750:Pdzd8	UTSW	19	59,289,684 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGTTTATCTGCAGGAGGAG -3'
(R):5'- AAAGCTTCTTGTCCAGCTCCTG -3'

Sequencing Primer
(F):5'- AGGGAGCAGCACCTTGTCTG -3'
(R):5'- CTACGAAGAGGACGCTGCTG -3'

Posted On

2018-07-23