Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01321:Pdzd8'

74046

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdzd8

Ensembl Gene

ENSMUSG00000074746

Gene Name

PDZ domain containing 8

Synonyms

Pdzk8, A630041P07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

59285610-59334212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59289961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 480 (S480A)

Ref Sequence

ENSEMBL: ENSMUSP00000096880 (fasta)

Gene Model

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

AlphaFold

B9EJ80

Predicted Effect

probably benign
Transcript: ENSMUST00000099274
AA Change: S480A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: S480A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	G	4: 49,380,269 (GRCm39)	S370P	probably damaging	Het
Adamts5	T	C	16: 85,696,363 (GRCm39)	R265G	probably benign	Het
Cd2ap	T	C	17: 43,156,280 (GRCm39)	S86G	possibly damaging	Het
Cers3	A	C	7: 66,435,751 (GRCm39)		probably benign	Het
Dnaaf2	G	T	12: 69,243,376 (GRCm39)	P562T	probably damaging	Het
Dnajc21	A	C	15: 10,447,188 (GRCm39)	V520G	probably benign	Het
Dync1h1	A	G	12: 110,592,041 (GRCm39)		probably benign	Het
Extl3	T	C	14: 65,304,211 (GRCm39)	N733D	probably benign	Het
Gm5499	T	A	17: 87,385,928 (GRCm39)		noncoding transcript	Het
Gstm6	T	C	3: 107,848,379 (GRCm39)	Q180R	probably benign	Het
Hdlbp	G	A	1: 93,351,524 (GRCm39)	R460W	probably damaging	Het
Ift81	T	C	5: 122,749,031 (GRCm39)	D40G	probably damaging	Het
Igsf3	T	A	3: 101,334,338 (GRCm39)		probably benign	Het
Kcnb2	A	G	1: 15,383,147 (GRCm39)	T158A	probably benign	Het
Lrrc59	C	T	11: 94,529,426 (GRCm39)	R167*	probably null	Het
Macf1	A	G	4: 123,334,567 (GRCm39)	C4397R	probably damaging	Het
Morc1	T	C	16: 48,402,825 (GRCm39)	S583P	probably benign	Het
Mucl3	A	T	17: 35,947,758 (GRCm39)	N490K	probably damaging	Het
Nipsnap2	T	A	5: 129,834,205 (GRCm39)	*282R	probably null	Het
Or2ag19	T	C	7: 106,443,956 (GRCm39)	L46P	probably damaging	Het
Or9m1b	A	T	2: 87,836,589 (GRCm39)	C178S	probably damaging	Het
Parp14	T	A	16: 35,676,929 (GRCm39)	Q1013L	probably benign	Het
Piezo1	A	T	8: 123,214,339 (GRCm39)	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,180,971 (GRCm39)		probably null	Het
Plpp2	A	T	10: 79,363,327 (GRCm39)	V106D	probably damaging	Het
Rimbp2	T	C	5: 128,863,816 (GRCm39)	Y724C	probably benign	Het
Rpgrip1l	A	T	8: 91,987,501 (GRCm39)	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259 (GRCm39)	D334V	probably benign	Het
Sipa1l2	G	A	8: 126,218,257 (GRCm39)	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,070,611 (GRCm39)	D5V	probably damaging	Het
Spata31	T	C	13: 65,069,568 (GRCm39)	I572T	probably benign	Het
Tma16	G	A	8: 66,929,512 (GRCm39)	L161F	probably benign	Het
Trappc2b	A	T	11: 51,576,670 (GRCm39)	V76D	probably damaging	Het
Trim69	A	T	2: 122,003,765 (GRCm39)	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,307,388 (GRCm39)	T205A	probably benign	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
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
R9750:Pdzd8	UTSW	19	59,289,684 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07