Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03166:Pdzd8'

411627

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 #

IGL03166

Quality Score

Status

Chromosome

Chromosomal Location

59285610-59334212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59288940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 820 (E820G)

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: E820G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: E820G

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Ankfn1	G	T	11: 89,429,264 (GRCm39)	A40D	probably benign	Het
Arhgap20	T	A	9: 51,761,077 (GRCm39)	I940K	possibly damaging	Het
Arhgap24	T	C	5: 103,023,552 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,172,308 (GRCm39)	T2103A	probably benign	Het
Cep350	A	G	1: 155,739,346 (GRCm39)	S2166P	possibly damaging	Het
Dlg2	T	C	7: 91,549,938 (GRCm39)		probably benign	Het
Fhip2b	A	T	14: 70,827,616 (GRCm39)	C160S	probably damaging	Het
Fyco1	A	T	9: 123,657,452 (GRCm39)	L908H	probably benign	Het
Gprc5b	C	A	7: 118,583,222 (GRCm39)	A216S	probably benign	Het
Lamc1	A	G	1: 153,208,047 (GRCm39)	V80A	probably benign	Het
Lilra6	T	C	7: 3,915,626 (GRCm39)	I370V	possibly damaging	Het
Lim2	T	A	7: 43,080,047 (GRCm39)	C11*	probably null	Het
Lrp1b	T	A	2: 41,001,050 (GRCm39)	H2058L	probably damaging	Het
Lrp3	G	T	7: 34,901,905 (GRCm39)	L659I	probably benign	Het
Lrrc8a	T	G	2: 30,145,377 (GRCm39)	S64A	probably benign	Het
Lsr	C	T	7: 30,661,522 (GRCm39)		probably null	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Man2c1	T	A	9: 57,046,382 (GRCm39)	V479E	probably damaging	Het
Mtf2	T	A	5: 108,254,586 (GRCm39)	D462E	probably benign	Het
Mx2	T	C	16: 97,347,990 (GRCm39)	I205T	probably damaging	Het
Nos1	T	A	5: 118,052,517 (GRCm39)		probably benign	Het
Optc	C	T	1: 133,831,530 (GRCm39)		probably benign	Het
Or51e2	T	C	7: 102,391,254 (GRCm39)	N319D	probably benign	Het
Orm1	C	A	4: 63,262,831 (GRCm39)		probably benign	Het
Pkp1	A	T	1: 135,805,862 (GRCm39)	M612K	probably damaging	Het
Pno1	T	A	11: 17,154,513 (GRCm39)		probably null	Het
Rbm34	T	C	8: 127,697,606 (GRCm39)	Q35R	probably damaging	Het
Ryr3	A	T	2: 112,471,457 (GRCm39)	Y4564*	probably null	Het
Slc34a3	T	C	2: 25,122,186 (GRCm39)	I140V	probably damaging	Het
Slc43a1	T	C	2: 84,687,700 (GRCm39)	I419T	possibly damaging	Het
Sltm	C	A	9: 70,450,251 (GRCm39)	A17E	possibly damaging	Het
Smpdl3b	T	C	4: 132,468,842 (GRCm39)	D125G	probably benign	Het
Snorc	A	C	1: 87,402,933 (GRCm39)		probably benign	Het
Supt3	G	T	17: 45,234,106 (GRCm39)	A48S	probably damaging	Het
Tlr3	A	G	8: 45,855,965 (GRCm39)	F72L	probably benign	Het
Trim36	T	C	18: 46,345,388 (GRCm39)	E15G	probably benign	Het
Tubb4b-ps1	A	T	5: 7,229,965 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,871,331 (GRCm39)	T651A	probably benign	Het
Wdr76	G	T	2: 121,364,787 (GRCm39)	V462F	possibly damaging	Het
Wnk2	C	A	13: 49,224,520 (GRCm39)	G1112*	probably null	Het
Zfp868	A	C	8: 70,064,965 (GRCm39)	C123W	probably damaging	Het
Zyg11b	T	A	4: 108,123,086 (GRCm39)	M294L	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
IGL01321:Pdzd8	APN	19	59,289,961 (GRCm39)	missense	probably benign
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
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

2016-08-02