Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01293:Pdzd8'

72969

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 #

IGL01293

Quality Score

Status

Chromosome

Chromosomal Location

59296084-59345780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59299786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1061 (R1061W)

Ref Sequence

ENSEMBL: ENSMUSP00000096880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026084] [ENSMUST00000099274]

AlphaFold

B9EJ80

Predicted Effect

probably benign
Transcript: ENSMUST00000026084

SMART Domains

Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	428	6.8e-40	PFAM
Pfam:Sugar_tr	26	284	5.9e-10	PFAM
Pfam:MFS_2	127	457	4.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099274
AA Change: R1061W

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

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: R1061W

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
Aadacl3	A	G	4: 144,463,656	V25A	probably benign	Het
Aagab	T	C	9: 63,636,469	V235A	probably benign	Het
Ash1l	T	C	3: 88,983,529	V905A	probably benign	Het
Atrx	A	G	X: 105,876,195	S641P	probably benign	Het
Bnc1	T	C	7: 81,974,489	E330G	probably damaging	Het
Cenpq	A	T	17: 40,933,176	S4T	possibly damaging	Het
Clvs1	T	A	4: 9,281,559	M1K	probably null	Het
Cul2	A	G	18: 3,419,426	K196E	probably damaging	Het
Cyp2d10	A	T	15: 82,403,009	V471E	possibly damaging	Het
Efhc2	T	A	X: 17,207,695	I469L	probably benign	Het
Fhod3	C	T	18: 25,020,652		probably benign	Het
Gm1968	A	G	16: 29,958,814		noncoding transcript	Het
Gm438	G	T	4: 144,777,589	H331N	probably benign	Het
Hpdl	T	A	4: 116,820,944	T107S	possibly damaging	Het
Il1rl1	G	A	1: 40,446,216	G276D	possibly damaging	Het
Irgq	A	G	7: 24,533,724	D330G	probably damaging	Het
Kdm4b	A	G	17: 56,353,019	D62G	probably benign	Het
Lama2	T	C	10: 27,231,636	T793A	probably benign	Het
Lrrk2	T	C	15: 91,726,137	F691L	probably benign	Het
Macf1	C	T	4: 123,471,311	G1654E	probably benign	Het
Mgat4c	A	T	10: 102,388,225	Y100F	probably benign	Het
Ncapg	A	G	5: 45,681,854	N532S	probably benign	Het
Nfkb1	T	C	3: 135,590,839	D782G	probably damaging	Het
Nthl1	G	T	17: 24,638,709	C294F	probably damaging	Het
Obp2b	A	G	2: 25,737,707	H45R	probably benign	Het
Olfm1	A	G	2: 28,214,703	E156G	probably damaging	Het
Olfr113	A	G	17: 37,575,417	I2T	probably benign	Het
Olfr847	C	A	9: 19,375,336	A182S	probably benign	Het
Otud6b	A	G	4: 14,822,682		probably benign	Het
Patl2	T	C	2: 122,123,810	T427A	probably benign	Het
Plk3	A	T	4: 117,132,997	L137*	probably null	Het
Rps6ka6	T	C	X: 111,450,362		probably benign	Het
Shank1	T	C	7: 44,354,236	V1784A	possibly damaging	Het
Smc1b	A	T	15: 85,131,898	S14T	probably damaging	Het
Sox4	C	A	13: 28,952,681	R114L	probably damaging	Het
Speg	C	T	1: 75,388,102	R221W	probably damaging	Het
Tram1l1	T	C	3: 124,322,139	V316A	probably benign	Het
Virma	G	T	4: 11,521,114	K840N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,412	S203T	probably damaging	Het
Wdr1	T	C	5: 38,529,543	T293A	probably benign	Het
Xirp2	C	T	2: 67,515,184	P2590S	possibly damaging	Het
Zfp106	T	C	2: 120,535,035	Y297C	possibly damaging	Het
Zfp128	A	G	7: 12,891,424	*573W	probably null	Het
Zfp575	G	A	7: 24,585,757	P153L	probably damaging	Het

Other mutations in Pdzd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Pdzd8	APN	19	59301529	missense	probably benign
IGL01865:Pdzd8	APN	19	59299645	missense	possibly damaging	0.92
IGL02044:Pdzd8	APN	19	59315292	missense	possibly damaging	0.85
IGL02119:Pdzd8	APN	19	59300490	missense	possibly damaging	0.95
IGL02186:Pdzd8	APN	19	59300628	missense	probably damaging	1.00
IGL02389:Pdzd8	APN	19	59301393	missense	probably benign	0.00
IGL02479:Pdzd8	APN	19	59299783	nonsense	probably null
IGL02713:Pdzd8	APN	19	59345458	missense	probably damaging	0.98
IGL02958:Pdzd8	APN	19	59300372	nonsense	probably null
IGL02966:Pdzd8	APN	19	59300859	missense	probably damaging	1.00
IGL03166:Pdzd8	APN	19	59300508	missense	probably damaging	1.00
citadel	UTSW	19	59299525	makesense	probably null
Eleventh_hour	UTSW	19	59305230	missense	probably damaging	1.00
keep	UTSW	19	59301351	nonsense	probably null
Stronghold	UTSW	19	59345352	nonsense	probably null
R0018:Pdzd8	UTSW	19	59300673	missense	probably damaging	1.00
R0038:Pdzd8	UTSW	19	59299596	missense	possibly damaging	0.54
R0196:Pdzd8	UTSW	19	59301131	missense	probably benign	0.00
R0233:Pdzd8	UTSW	19	59300379	missense	probably damaging	0.99
R0233:Pdzd8	UTSW	19	59300379	missense	probably damaging	0.99
R0418:Pdzd8	UTSW	19	59300929	missense	probably damaging	1.00
R0736:Pdzd8	UTSW	19	59344933	missense	probably damaging	0.99
R1456:Pdzd8	UTSW	19	59300472	missense	probably benign	0.01
R1709:Pdzd8	UTSW	19	59301339	missense	probably benign
R1965:Pdzd8	UTSW	19	59300122	missense	probably benign	0.37
R2155:Pdzd8	UTSW	19	59300421	missense	probably damaging	1.00
R3077:Pdzd8	UTSW	19	59305156	critical splice donor site	probably null
R3411:Pdzd8	UTSW	19	59345413	missense	probably damaging	1.00
R4345:Pdzd8	UTSW	19	59300128	missense	probably benign	0.00
R4354:Pdzd8	UTSW	19	59345481	missense	probably benign
R4504:Pdzd8	UTSW	19	59345448	missense	probably damaging	1.00
R4642:Pdzd8	UTSW	19	59305230	missense	probably damaging	1.00
R4705:Pdzd8	UTSW	19	59345311	missense	possibly damaging	0.80
R4773:Pdzd8	UTSW	19	59300860	missense	probably damaging	1.00
R4876:Pdzd8	UTSW	19	59300804	nonsense	probably null
R5176:Pdzd8	UTSW	19	59344957	missense	probably damaging	1.00
R5267:Pdzd8	UTSW	19	59301026	missense	probably damaging	1.00
R5707:Pdzd8	UTSW	19	59299625	missense	probably benign	0.00
R5766:Pdzd8	UTSW	19	59300540	missense	possibly damaging	0.65
R5903:Pdzd8	UTSW	19	59345286	missense	possibly damaging	0.58
R6036:Pdzd8	UTSW	19	59305209	missense	probably damaging	1.00
R6036:Pdzd8	UTSW	19	59305209	missense	probably damaging	1.00
R6238:Pdzd8	UTSW	19	59300562	missense	probably benign	0.05
R6360:Pdzd8	UTSW	19	59300983	missense	probably benign	0.10
R6509:Pdzd8	UTSW	19	59344866	missense	probably benign	0.01
R6674:Pdzd8	UTSW	19	59301369	missense	probably damaging	1.00
R6808:Pdzd8	UTSW	19	59299525	makesense	probably null
R6902:Pdzd8	UTSW	19	59301397	missense	possibly damaging	0.91
R7017:Pdzd8	UTSW	19	59345352	nonsense	probably null
R7088:Pdzd8	UTSW	19	59344957	missense	probably damaging	1.00
R7116:Pdzd8	UTSW	19	59299693	missense	probably damaging	1.00
R7158:Pdzd8	UTSW	19	59300157	missense	probably damaging	1.00
R7237:Pdzd8	UTSW	19	59345139	missense	probably damaging	1.00
R7251:Pdzd8	UTSW	19	59300645	missense	possibly damaging	0.96
R7314:Pdzd8	UTSW	19	59301351	nonsense	probably null
R7699:Pdzd8	UTSW	19	59344941	missense	probably damaging	1.00
R7751:Pdzd8	UTSW	19	59344776	missense	probably damaging	0.98
R7759:Pdzd8	UTSW	19	59299926	missense	probably damaging	1.00
R7784:Pdzd8	UTSW	19	59327863	missense	probably damaging	1.00
R7917:Pdzd8	UTSW	19	59345086	missense	probably damaging	0.96
R9364:Pdzd8	UTSW	19	59345142	missense	probably damaging	1.00
R9368:Pdzd8	UTSW	19	59300787	nonsense	probably null
R9406:Pdzd8	UTSW	19	59344813	missense
R9548:Pdzd8	UTSW	19	59301394	missense	probably benign	0.13
R9554:Pdzd8	UTSW	19	59345142	missense	probably damaging	1.00
R9688:Pdzd8	UTSW	19	59345251	missense	probably benign	0.05
R9750:Pdzd8	UTSW	19	59301252	missense	probably benign	0.00

Posted On

2013-10-07