Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03061:Pdzrn3'

409443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdzrn3

Ensembl Gene

ENSMUSG00000035357

Gene Name

PDZ domain containing RING finger 3

Synonyms

LNX3, semaphorin cytoplasmic domain-associated protein 3A, Semcap3, 1110020C07Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

101149609-101377897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101151855 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 617 (D617Y)

Ref Sequence

ENSEMBL: ENSMUSP00000075376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075994]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075994
AA Change: D617Y

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

SMART Domains

Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: D617Y

Domain	Start	End	E-Value	Type
RING	18	55	3.93e-3	SMART
low complexity region	198	214	N/A	INTRINSIC
PDZ	257	339	3.38e-21	SMART
PDZ	429	504	3.86e-16	SMART
low complexity region	512	526	N/A	INTRINSIC
low complexity region	660	671	N/A	INTRINSIC
low complexity region	1020	1029	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204522

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	A	8: 46,508,337	N106K	probably damaging	Het
Ak8	T	C	2: 28,742,755		probably benign	Het
BC016579	C	T	16: 45,629,486	G190S	probably damaging	Het
C4bp	A	G	1: 130,636,717	V410A	probably damaging	Het
Cacna2d3	T	C	14: 29,058,431	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,660		probably null	Het
Car10	G	T	11: 93,490,525	V105F	probably damaging	Het
Car15	C	T	16: 17,835,385	C306Y	possibly damaging	Het
Casr	C	T	16: 36,495,888	A530T	probably benign	Het
Col5a3	A	G	9: 20,797,572		probably null	Het
Creld1	A	G	6: 113,488,097	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,760,397	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,903,121	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 141,357,235		probably benign	Het
Gsn	T	C	2: 35,282,459		probably benign	Het
Ifi27	T	C	12: 103,435,544	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,619,724	R164Q	probably benign	Het
Impg2	T	C	16: 56,268,416	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,978,629	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,239,070	T157I	probably benign	Het
Lrrc32	A	T	7: 98,499,422	T470S	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mroh9	A	T	1: 163,026,502	H776Q	probably damaging	Het
Myh7	T	C	14: 54,991,204		probably benign	Het
Myh7b	A	G	2: 155,620,111	N309S	possibly damaging	Het
Myo5b	A	T	18: 74,634,559	T313S	probably benign	Het
Myo5b	G	A	18: 74,580,544		probably benign	Het
Npas4	C	T	19: 4,986,337	V600M	probably damaging	Het
Nrxn3	T	A	12: 89,511,928	Y557*	probably null	Het
Olfr169	T	C	16: 19,566,713	T57A	possibly damaging	Het
Olfr552	A	G	7: 102,604,739	I128M	probably damaging	Het
Olfr968	T	A	9: 39,772,162	T213S	probably benign	Het
Pcdh15	A	G	10: 74,317,011	I383V	probably damaging	Het
Prodh2	A	T	7: 30,512,833	K408*	probably null	Het
Ptprs	T	C	17: 56,418,830	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,572,127	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,175,493	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,851,136	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,454,499	I323F	probably damaging	Het
Snx19	T	A	9: 30,433,632	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tg	A	C	15: 66,671,405	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694	A928E	probably damaging	Het
Tmem94	T	C	11: 115,792,421	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,736,857	H698N	possibly damaging	Het
Vcan	T	C	13: 89,703,275	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,075,918	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,484,016	N549K	probably damaging	Het
Zfp598	T	C	17: 24,679,592	V455A	probably benign	Het

Other mutations in Pdzrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Pdzrn3	APN	6	101354486	missense	probably benign	0.01
IGL01511:Pdzrn3	APN	6	101153256	missense	possibly damaging	0.66
IGL01554:Pdzrn3	APN	6	101150541	missense	probably damaging	1.00
IGL02450:Pdzrn3	APN	6	101354500	missense	probably damaging	1.00
IGL02505:Pdzrn3	APN	6	101151938	missense	possibly damaging	0.94
IGL03210:Pdzrn3	APN	6	101156952	missense	possibly damaging	0.95
gefilte	UTSW	6	101154192	critical splice donor site	probably null
implevit_bonis	UTSW	6	101151022	missense	probably benign	0.15
predisposition	UTSW	6	101151053	missense	probably damaging	1.00
tendency	UTSW	6	101151428	missense	probably damaging	1.00
PIT4581001:Pdzrn3	UTSW	6	101151503	missense	probably benign	0.00
R0110:Pdzrn3	UTSW	6	101151053	missense	probably damaging	1.00
R0469:Pdzrn3	UTSW	6	101151053	missense	probably damaging	1.00
R0496:Pdzrn3	UTSW	6	101150570	missense	possibly damaging	0.94
R0510:Pdzrn3	UTSW	6	101151053	missense	probably damaging	1.00
R0883:Pdzrn3	UTSW	6	101155942	splice site	probably null
R1171:Pdzrn3	UTSW	6	101150877	missense	probably damaging	1.00
R1471:Pdzrn3	UTSW	6	101151512	missense	possibly damaging	0.77
R1496:Pdzrn3	UTSW	6	101150969	missense	probably benign	0.00
R1596:Pdzrn3	UTSW	6	101151005	missense	probably benign	0.03
R2033:Pdzrn3	UTSW	6	101150954	missense	probably damaging	1.00
R2068:Pdzrn3	UTSW	6	101150699	missense	probably damaging	1.00
R2084:Pdzrn3	UTSW	6	101154295	missense	probably benign	0.35
R2432:Pdzrn3	UTSW	6	101150791	missense	probably damaging	1.00
R3727:Pdzrn3	UTSW	6	101156945	missense	probably damaging	0.98
R3861:Pdzrn3	UTSW	6	101172371	missense	possibly damaging	0.95
R4616:Pdzrn3	UTSW	6	101152009	missense	probably damaging	0.99
R4967:Pdzrn3	UTSW	6	101151590	missense	probably damaging	1.00
R5224:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5226:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5227:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5230:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5320:Pdzrn3	UTSW	6	101151103	missense	probably damaging	1.00
R5414:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5686:Pdzrn3	UTSW	6	101151428	missense	probably damaging	1.00
R5772:Pdzrn3	UTSW	6	101172314	missense	probably benign	0.00
R6026:Pdzrn3	UTSW	6	101362144	missense	probably benign	0.40
R6213:Pdzrn3	UTSW	6	101377844	missense	probably damaging	1.00
R6518:Pdzrn3	UTSW	6	101150514	makesense	probably null
R6657:Pdzrn3	UTSW	6	101151022	missense	probably benign	0.15
R6951:Pdzrn3	UTSW	6	101154192	critical splice donor site	probably null
R7055:Pdzrn3	UTSW	6	101151774	nonsense	probably null
R7290:Pdzrn3	UTSW	6	101151245	missense	probably benign
R7608:Pdzrn3	UTSW	6	101151752	missense	probably damaging	1.00
R7834:Pdzrn3	UTSW	6	101151195	missense	probably damaging	0.97
R8199:Pdzrn3	UTSW	6	101151957	missense	probably damaging	1.00
R8338:Pdzrn3	UTSW	6	101150822	missense	probably benign	0.00
R8734:Pdzrn3	UTSW	6	101151606	missense	probably damaging	0.98
Z1176:Pdzrn3	UTSW	6	101151999	missense	probably damaging	1.00

Posted On

2016-08-02