Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Pdzd8'

479240

Institutional Source

Beutler Lab

Gene Symbol

Pdzd8

Ensembl Gene

ENSMUSG00000074746

Gene Name

PDZ domain containing 8

Synonyms

A630041P07Rik, Pdzk8

MMRRC Submission

043257-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59296084-59345780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59305209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 403 (P403S)

Ref Sequence

ENSEMBL: ENSMUSP00000096880 (fasta)

Gene Model

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

AlphaFold

B9EJ80

Predicted Effect

probably damaging
Transcript: ENSMUST00000099274
AA Change: P403S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: P403S

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: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,832,858		probably benign	Het
Ago1	C	T	4: 126,443,228	R228H	probably damaging	Het
Alpk3	G	A	7: 81,093,257	V941M	probably benign	Het
Ano4	A	G	10: 88,982,265	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 44,098,831	Y464H	probably benign	Het
Barx2	A	T	9: 31,913,008	D28E	probably damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Col10a1	A	G	10: 34,395,282	T417A	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,239,420	S227P	probably damaging	Het
Erv3	G	A	2: 131,856,005	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,014,322	T591A	possibly damaging	Het
F5	A	T	1: 164,184,996	E493V	probably damaging	Het
Gm8444	G	T	15: 81,843,593		probably benign	Het
Gria4	T	A	9: 4,537,646	I221L	probably benign	Het
Hc	T	C	2: 35,039,684	T249A	probably benign	Het
Herc2	A	G	7: 56,068,053	T48A	probably benign	Het
Hist1h2bl	A	T	13: 21,715,978	S56T	probably damaging	Het
Hp	A	G	8: 109,576,774		probably null	Het
Ifna15	T	G	4: 88,558,073	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,397,125	M262L	probably benign	Het
Krt83	A	C	15: 101,487,531	I320S	possibly damaging	Het
Megf10	A	G	18: 57,242,727	N242D	probably damaging	Het
Nup155	A	G	15: 8,128,411	T451A	probably benign	Het
Olfr1277	C	T	2: 111,269,612	G252R	probably damaging	Het
Olfr1288	T	C	2: 111,478,988	L68P	probably damaging	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr701	A	T	7: 106,818,460	I126F	probably damaging	Het
Olfr930	A	G	9: 38,930,920	I250V	probably damaging	Het
Piezo2	G	A	18: 63,114,948	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618	E191G	possibly damaging	Het
Pou4f2	A	T	8: 78,435,474	S167T	probably damaging	Het
Scd4	G	A	19: 44,344,792	D319N	probably damaging	Het
Senp2	A	T	16: 22,028,558	R279*	probably null	Het
Sh3rf3	G	A	10: 58,813,984	G137D	probably benign	Het
Simc1	C	T	13: 54,524,621	P261S	probably benign	Het
Slc26a1	T	A	5: 108,673,570	D151V	probably damaging	Het
Snx29	A	G	16: 11,738,437		probably null	Het
Stard9	C	T	2: 120,700,075	A2271V	probably benign	Het
Stat6	A	G	10: 127,655,444	N485D	possibly damaging	Het
Tpcn2	T	C	7: 145,268,869	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,711,366	I378V	possibly damaging	Het
Ttc29	A	G	8: 78,325,576	D362G	probably benign	Het
Ttll7	A	G	3: 146,940,162	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,086	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,633,903	Q87R	probably damaging	Het
Wdfy4	G	T	14: 33,146,990	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,963,568	Y521H	probably damaging	Het

Other mutations in Pdzd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Pdzd8	APN	19	59299786	missense	probably damaging	1.00
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
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

Predicted Primers

Posted On

2017-06-26