Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02389:Pdzd8'

291670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdzd8

Ensembl Gene

ENSMUSG00000074746

Gene Name

PDZ domain containing 8

Synonyms

A630041P07Rik, Pdzk8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

59296084-59345780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59301393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 525 (I525T)

Ref Sequence

ENSEMBL: ENSMUSP00000096880 (fasta)

Gene Model

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

AlphaFold

B9EJ80

Predicted Effect

probably benign
Transcript: ENSMUST00000099274
AA Change: I525T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: I525T

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	A	5: 63,896,483 (GRCm38)	S11N	probably null	Het
Aqp9	T	C	9: 71,122,906 (GRCm38)	I200V	possibly damaging	Het
BC100530	C	A	16: 36,367,486 (GRCm38)	V6F	possibly damaging	Het
Cntn2	T	C	1: 132,525,321 (GRCm38)	E411G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Dennd3	A	G	15: 73,567,056 (GRCm38)	D1091G	probably damaging	Het
Dock2	T	C	11: 34,698,740 (GRCm38)		probably benign	Het
Dscam	T	A	16: 96,640,897 (GRCm38)	I1577F	probably benign	Het
Egflam	A	T	15: 7,250,078 (GRCm38)	N482K	probably benign	Het
Fam216a	T	C	5: 122,367,511 (GRCm38)	T129A	probably damaging	Het
Fbxo40	T	C	16: 36,969,774 (GRCm38)	M325V	probably benign	Het
Fbxw8	C	T	5: 118,128,955 (GRCm38)	V148M	possibly damaging	Het
Fcgbp	C	T	7: 28,075,171 (GRCm38)	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,380,931 (GRCm38)		probably null	Het
Gria2	T	C	3: 80,709,422 (GRCm38)	T408A	probably benign	Het
H2-T3	A	G	17: 36,186,608 (GRCm38)	M59T	probably benign	Het
Jakmip1	C	T	5: 37,100,843 (GRCm38)	Q278*	probably null	Het
Krtap21-1	C	T	16: 89,403,424 (GRCm38)	G110D	unknown	Het
Myo7a	C	T	7: 98,106,991 (GRCm38)		probably null	Het
Nlrp9c	T	A	7: 26,394,207 (GRCm38)	Q11L	probably benign	Het
Olfr1442	A	T	19: 12,674,535 (GRCm38)	D110V	probably benign	Het
Olfr298	A	G	7: 86,489,128 (GRCm38)	L141P	probably damaging	Het
Olfr767	A	C	10: 129,079,230 (GRCm38)	I244M	probably damaging	Het
Olfr790	T	A	10: 129,501,070 (GRCm38)	M62K	probably benign	Het
Pign	A	T	1: 105,646,781 (GRCm38)	L280*	probably null	Het
Pik3r4	T	G	9: 105,650,331 (GRCm38)	I294M	possibly damaging	Het
Pkhd1	T	A	1: 20,117,720 (GRCm38)	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,848,758 (GRCm38)	Q471*	probably null	Het
Prrc2c	A	G	1: 162,692,870 (GRCm38)	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,567,171 (GRCm38)	R52C	probably damaging	Het
Rfx2	T	C	17: 56,808,325 (GRCm38)		probably benign	Het
Sh3bp4	T	C	1: 89,145,148 (GRCm38)	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,263,301 (GRCm38)		probably benign	Het
Slc26a8	T	A	17: 28,638,650 (GRCm38)	I840F	probably benign	Het
Slc5a4b	A	T	10: 76,072,465 (GRCm38)	Y364*	probably null	Het
Slitrk1	A	G	14: 108,912,322 (GRCm38)	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,208,205 (GRCm38)	A499T	probably benign	Het
Tnks2	T	A	19: 36,884,103 (GRCm38)	S951R	probably benign	Het
Trim30c	A	G	7: 104,382,174 (GRCm38)	F478S	probably benign	Het
Tyro3	C	T	2: 119,804,864 (GRCm38)		probably benign	Het
Vmn1r34	A	T	6: 66,637,058 (GRCm38)	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,495,446 (GRCm38)	C215S	probably damaging	Het
Zzef1	C	T	11: 72,891,217 (GRCm38)	P1995S	probably benign	Het
Zzef1	T	A	11: 72,899,538 (GRCm38)	V2106D	possibly damaging	Het

Other mutations in Pdzd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Pdzd8	APN	19	59,299,786 (GRCm38)	missense	probably damaging	1.00
IGL01321:Pdzd8	APN	19	59,301,529 (GRCm38)	missense	probably benign
IGL01865:Pdzd8	APN	19	59,299,645 (GRCm38)	missense	possibly damaging	0.92
IGL02044:Pdzd8	APN	19	59,315,292 (GRCm38)	missense	possibly damaging	0.85
IGL02119:Pdzd8	APN	19	59,300,490 (GRCm38)	missense	possibly damaging	0.95
IGL02186:Pdzd8	APN	19	59,300,628 (GRCm38)	missense	probably damaging	1.00
IGL02479:Pdzd8	APN	19	59,299,783 (GRCm38)	nonsense	probably null
IGL02713:Pdzd8	APN	19	59,345,458 (GRCm38)	missense	probably damaging	0.98
IGL02958:Pdzd8	APN	19	59,300,372 (GRCm38)	nonsense	probably null
IGL02966:Pdzd8	APN	19	59,300,859 (GRCm38)	missense	probably damaging	1.00
IGL03166:Pdzd8	APN	19	59,300,508 (GRCm38)	missense	probably damaging	1.00
citadel	UTSW	19	59,299,525 (GRCm38)	makesense	probably null
Eleventh_hour	UTSW	19	59,305,230 (GRCm38)	missense	probably damaging	1.00
keep	UTSW	19	59,301,351 (GRCm38)	nonsense	probably null
Stronghold	UTSW	19	59,345,352 (GRCm38)	nonsense	probably null
R0018:Pdzd8	UTSW	19	59,300,673 (GRCm38)	missense	probably damaging	1.00
R0038:Pdzd8	UTSW	19	59,299,596 (GRCm38)	missense	possibly damaging	0.54
R0196:Pdzd8	UTSW	19	59,301,131 (GRCm38)	missense	probably benign	0.00
R0233:Pdzd8	UTSW	19	59,300,379 (GRCm38)	missense	probably damaging	0.99
R0233:Pdzd8	UTSW	19	59,300,379 (GRCm38)	missense	probably damaging	0.99
R0418:Pdzd8	UTSW	19	59,300,929 (GRCm38)	missense	probably damaging	1.00
R0736:Pdzd8	UTSW	19	59,344,933 (GRCm38)	missense	probably damaging	0.99
R1456:Pdzd8	UTSW	19	59,300,472 (GRCm38)	missense	probably benign	0.01
R1709:Pdzd8	UTSW	19	59,301,339 (GRCm38)	missense	probably benign
R1965:Pdzd8	UTSW	19	59,300,122 (GRCm38)	missense	probably benign	0.37
R2155:Pdzd8	UTSW	19	59,300,421 (GRCm38)	missense	probably damaging	1.00
R3077:Pdzd8	UTSW	19	59,305,156 (GRCm38)	critical splice donor site	probably null
R3411:Pdzd8	UTSW	19	59,345,413 (GRCm38)	missense	probably damaging	1.00
R4345:Pdzd8	UTSW	19	59,300,128 (GRCm38)	missense	probably benign	0.00
R4354:Pdzd8	UTSW	19	59,345,481 (GRCm38)	missense	probably benign
R4504:Pdzd8	UTSW	19	59,345,448 (GRCm38)	missense	probably damaging	1.00
R4642:Pdzd8	UTSW	19	59,305,230 (GRCm38)	missense	probably damaging	1.00
R4705:Pdzd8	UTSW	19	59,345,311 (GRCm38)	missense	possibly damaging	0.80
R4773:Pdzd8	UTSW	19	59,300,860 (GRCm38)	missense	probably damaging	1.00
R4876:Pdzd8	UTSW	19	59,300,804 (GRCm38)	nonsense	probably null
R5176:Pdzd8	UTSW	19	59,344,957 (GRCm38)	missense	probably damaging	1.00
R5267:Pdzd8	UTSW	19	59,301,026 (GRCm38)	missense	probably damaging	1.00
R5707:Pdzd8	UTSW	19	59,299,625 (GRCm38)	missense	probably benign	0.00
R5766:Pdzd8	UTSW	19	59,300,540 (GRCm38)	missense	possibly damaging	0.65
R5903:Pdzd8	UTSW	19	59,345,286 (GRCm38)	missense	possibly damaging	0.58
R6036:Pdzd8	UTSW	19	59,305,209 (GRCm38)	missense	probably damaging	1.00
R6036:Pdzd8	UTSW	19	59,305,209 (GRCm38)	missense	probably damaging	1.00
R6238:Pdzd8	UTSW	19	59,300,562 (GRCm38)	missense	probably benign	0.05
R6360:Pdzd8	UTSW	19	59,300,983 (GRCm38)	missense	probably benign	0.10
R6509:Pdzd8	UTSW	19	59,344,866 (GRCm38)	missense	probably benign	0.01
R6674:Pdzd8	UTSW	19	59,301,369 (GRCm38)	missense	probably damaging	1.00
R6808:Pdzd8	UTSW	19	59,299,525 (GRCm38)	makesense	probably null
R6902:Pdzd8	UTSW	19	59,301,397 (GRCm38)	missense	possibly damaging	0.91
R7017:Pdzd8	UTSW	19	59,345,352 (GRCm38)	nonsense	probably null
R7088:Pdzd8	UTSW	19	59,344,957 (GRCm38)	missense	probably damaging	1.00
R7116:Pdzd8	UTSW	19	59,299,693 (GRCm38)	missense	probably damaging	1.00
R7158:Pdzd8	UTSW	19	59,300,157 (GRCm38)	missense	probably damaging	1.00
R7237:Pdzd8	UTSW	19	59,345,139 (GRCm38)	missense	probably damaging	1.00
R7251:Pdzd8	UTSW	19	59,300,645 (GRCm38)	missense	possibly damaging	0.96
R7314:Pdzd8	UTSW	19	59,301,351 (GRCm38)	nonsense	probably null
R7699:Pdzd8	UTSW	19	59,344,941 (GRCm38)	missense	probably damaging	1.00
R7751:Pdzd8	UTSW	19	59,344,776 (GRCm38)	missense	probably damaging	0.98
R7759:Pdzd8	UTSW	19	59,299,926 (GRCm38)	missense	probably damaging	1.00
R7784:Pdzd8	UTSW	19	59,327,863 (GRCm38)	missense	probably damaging	1.00
R7917:Pdzd8	UTSW	19	59,345,086 (GRCm38)	missense	probably damaging	0.96
R9364:Pdzd8	UTSW	19	59,345,142 (GRCm38)	missense	probably damaging	1.00
R9368:Pdzd8	UTSW	19	59,300,787 (GRCm38)	nonsense	probably null
R9406:Pdzd8	UTSW	19	59,344,813 (GRCm38)	missense
R9548:Pdzd8	UTSW	19	59,301,394 (GRCm38)	missense	probably benign	0.13
R9554:Pdzd8	UTSW	19	59,345,142 (GRCm38)	missense	probably damaging	1.00
R9688:Pdzd8	UTSW	19	59,345,251 (GRCm38)	missense	probably benign	0.05
R9750:Pdzd8	UTSW	19	59,301,252 (GRCm38)	missense	probably benign	0.00

Posted On

2015-04-16