Mutagenetix > Incidental Mutation

Incidental Mutation 'R0418:Pdzd8'

36902

Institutional Source

Beutler Lab

Gene Symbol

Pdzd8

Ensembl Gene

ENSMUSG00000074746

Gene Name

PDZ domain containing 8

Synonyms

A630041P07Rik, Pdzk8

MMRRC Submission

038620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59296084-59345780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59300929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 680 (R680C)

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: R680C

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

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: R680C

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

Meta Mutation Damage Score

0.2728

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	G	T	2: 104,123,330		probably null	Het
Abca14	T	C	7: 120,207,434	L19P	probably damaging	Het
Abcb1a	T	A	5: 8,713,281	V603E	probably damaging	Het
Acsl5	A	G	19: 55,272,806	D65G	probably benign	Het
Acss3	T	C	10: 107,023,912	Y311C	probably damaging	Het
Ak8	T	G	2: 28,733,856	I151S	possibly damaging	Het
Aldh1a1	T	C	19: 20,629,049		probably benign	Het
Aldh1l1	A	G	6: 90,569,893	R393G	possibly damaging	Het
Ankhd1	T	A	18: 36,634,300	L1164Q	probably damaging	Het
Ascc3	G	T	10: 50,748,926	V1637L	probably benign	Het
Atf5	A	G	7: 44,813,397	M101T	possibly damaging	Het
C77080	A	G	4: 129,223,684	S396P	probably damaging	Het
Det1	T	C	7: 78,844,017	T80A	probably benign	Het
Dpp9	C	T	17: 56,194,404		probably benign	Het
Fam13c	A	G	10: 70,534,761	R244G	probably damaging	Het
Fat3	A	T	9: 16,246,896	N1139K	probably damaging	Het
Fbxo17	A	G	7: 28,733,491	T146A	possibly damaging	Het
Fli1	T	C	9: 32,452,129		probably benign	Het
Glb1l2	T	G	9: 26,794,101	D151A	probably damaging	Het
Gli2	G	A	1: 118,840,490	T669I	possibly damaging	Het
Igsf3	C	A	3: 101,435,435	R463S	probably damaging	Het
Il1rl2	T	C	1: 40,326,502	V3A	unknown	Het
Irx3	G	A	8: 91,800,080	S332F	probably benign	Het
Katnb1	C	T	8: 95,095,658	T303M	possibly damaging	Het
Lrrc31	A	T	3: 30,689,234	L194Q	probably damaging	Het
Lrrc37a	T	G	11: 103,503,438	E387A	probably benign	Het
Mapk14	T	C	17: 28,691,789	I17T	probably benign	Het
Mtif2	A	G	11: 29,533,401		probably benign	Het
Myo16	A	G	8: 10,569,918	T1490A	probably benign	Het
Nfasc	A	G	1: 132,611,595	V399A	probably damaging	Het
Nobox	T	C	6: 43,307,235	K1E	probably null	Het
Nr2c1	A	T	10: 94,181,512	M371L	probably benign	Het
Olfr1330	C	T	4: 118,893,251	T56I	possibly damaging	Het
Olfr642	G	A	7: 104,049,772	T194I	probably benign	Het
Oplah	C	T	15: 76,298,487	R924H	probably benign	Het
Pappa2	C	A	1: 158,716,990	C1756F	probably damaging	Het
Rassf3	G	A	10: 121,417,170	T44M	probably benign	Het
Rmnd1	T	C	10: 4,427,693		probably null	Het
Rnf126	C	T	10: 79,762,643		probably benign	Het
Rnf144b	T	C	13: 47,244,490	S299P	probably benign	Het
Ryr2	A	G	13: 11,834,095		probably benign	Het
Scel	T	A	14: 103,603,254	S511T	probably benign	Het
Slc16a10	G	T	10: 40,040,631	S138*	probably null	Het
Slc36a4	A	T	9: 15,734,266	I330F	probably damaging	Het
Slc5a8	A	G	10: 88,886,558	I84M	probably benign	Het
Spag9	T	C	11: 94,091,753		probably benign	Het
Suco	C	T	1: 161,834,850	V671I	probably benign	Het
Suox	G	A	10: 128,670,885	P425S	probably damaging	Het
Tmem266	T	A	9: 55,437,413	V443E	probably benign	Het
Tmprss11f	A	T	5: 86,557,011	I16N	probably benign	Het
Tnik	T	A	3: 28,570,880	Y321*	probably null	Het
Tnrc6b	T	C	15: 80,913,323	M1357T	probably benign	Het
Tpbg	C	A	9: 85,844,750	Y257*	probably null	Het
Usp37	A	T	1: 74,490,107	S138T	probably benign	Het
Veph1	T	A	3: 66,255,028	R70*	probably null	Het
Vmn2r17	C	T	5: 109,452,881	P682S	probably damaging	Het
Vmn2r79	A	C	7: 87,002,403	N337H	probably benign	Het
Vstm2b	A	G	7: 40,902,452	D68G	probably damaging	Het
Vwa7	G	T	17: 35,017,957	A167S	possibly damaging	Het
Zfp647	A	T	15: 76,911,386	I358N	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGAGTGTAGAAACCTCCTCAACC -3'
(R):5'- TGCAGATAAACCTGCCGAGAAGC -3'

Sequencing Primer
(F):5'- ACGTAGTGCAGTTCTAGTGACC -3'
(R):5'- CCTGCCGAGAAGCAAGTG -3'

Posted On

2013-05-09