Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01865:Pdzd8'

178464

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 #

IGL01865

Quality Score

Status

Chromosome

Chromosomal Location

59285610-59334212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59288077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1108 (K1108E)

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

possibly damaging
Transcript: ENSMUST00000099274
AA Change: K1108E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: K1108E

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,836,107 (GRCm39)	H162R	probably damaging	Het
Adamts10	T	A	17: 33,772,140 (GRCm39)	M1096K	probably damaging	Het
Asap3	G	T	4: 135,963,715 (GRCm39)	C325F	probably damaging	Het
Atm	T	C	9: 53,372,302 (GRCm39)	E2160G	probably damaging	Het
Col4a1	G	A	8: 11,251,790 (GRCm39)		probably benign	Het
Ctdp1	C	T	18: 80,499,199 (GRCm39)	G248S	probably damaging	Het
Dcaf5	A	T	12: 80,386,088 (GRCm39)	D679E	probably benign	Het
Efcab2	C	A	1: 178,303,253 (GRCm39)	Y91*	probably null	Het
Eif3d	G	T	15: 77,851,546 (GRCm39)	T88K	probably benign	Het
Gapvd1	G	A	2: 34,585,515 (GRCm39)	A1049V	probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm18856	T	A	13: 14,139,508 (GRCm39)		probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm9991	A	G	1: 90,606,635 (GRCm39)		noncoding transcript	Het
Hapln1	T	C	13: 89,749,784 (GRCm39)	Y110H	probably damaging	Het
Htr1f	A	G	16: 64,746,282 (GRCm39)	Y337H	probably damaging	Het
Kirrel1	T	A	3: 86,993,731 (GRCm39)	S509C	probably damaging	Het
Limch1	A	T	5: 67,131,923 (GRCm39)	R138*	probably null	Het
Lypla1	A	C	1: 4,907,259 (GRCm39)	I108L	probably damaging	Het
Mc3r	A	G	2: 172,090,975 (GRCm39)	N66D	probably damaging	Het
Melk	T	A	4: 44,344,988 (GRCm39)	C373S	probably benign	Het
Myocd	C	A	11: 65,091,723 (GRCm39)	S73I	probably benign	Het
Nell2	A	G	15: 95,282,962 (GRCm39)	V360A	possibly damaging	Het
Npas4	G	A	19: 5,035,819 (GRCm39)	Q782*	probably null	Het
Or7a36	A	T	10: 78,820,512 (GRCm39)	D296V	possibly damaging	Het
Per2	A	G	1: 91,349,239 (GRCm39)	I1044T	probably benign	Het
Pgm3	A	G	9: 86,437,371 (GRCm39)	F501S	possibly damaging	Het
Ppp1r3c	A	G	19: 36,711,578 (GRCm39)	V64A	probably benign	Het
Ptpn6	A	T	6: 124,709,428 (GRCm39)	I15N	probably damaging	Het
Pxk	T	C	14: 8,136,923 (GRCm38)	V148A	possibly damaging	Het
Rngtt	T	A	4: 33,325,157 (GRCm39)		probably benign	Het
Rtkn2	T	G	10: 67,871,705 (GRCm39)	S364R	probably benign	Het
Rtn1	A	C	12: 72,266,074 (GRCm39)	L167R	probably damaging	Het
Sp2	G	A	11: 96,851,868 (GRCm39)	T352I	probably damaging	Het
Tbc1d17	A	G	7: 44,492,113 (GRCm39)	M459T	possibly damaging	Het
Tbcd	T	A	11: 121,481,206 (GRCm39)	M694K	possibly damaging	Het
Tln2	G	A	9: 67,157,896 (GRCm39)	R1148*	probably null	Het
Trim27	T	C	13: 21,376,662 (GRCm39)	V294A	probably damaging	Het
Tspyl5	G	T	15: 33,687,858 (GRCm39)	A29E	unknown	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vrk2	C	T	11: 26,485,560 (GRCm39)	V143I	possibly damaging	Het
Zfp952	G	A	17: 33,221,791 (GRCm39)	R52Q	probably benign	Het
Zfp979	A	T	4: 147,699,774 (GRCm39)	D55E	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
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
IGL03166:Pdzd8	APN	19	59,288,940 (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

2014-05-07