Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02269:Pdzrn4'

287064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, LNX4, SAMCAP3L

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

IGL02269

Quality Score

Status

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92769850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 628 (S628C)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035399] [ENSMUST00000169942]

AlphaFold

E9PUZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000035399
AA Change: S389C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: S389C

Domain	Start	End	E-Value	Type
Blast:PDZ	1	56	4e-24	BLAST
SCOP:d1qaua_	20	61	1e-3	SMART
PDB:1UHP\|A	21	64	9e-12	PDB
PDZ	154	229	3.01e-18	SMART
low complexity region	240	259	N/A	INTRINSIC
low complexity region	267	278	N/A	INTRINSIC
coiled coil region	394	430	N/A	INTRINSIC
low complexity region	563	577	N/A	INTRINSIC
low complexity region	696	709	N/A	INTRINSIC
low complexity region	732	741	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169942
AA Change: S628C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: S628C

Domain	Start	End	E-Value	Type
RING	22	56	1.38e-1	SMART
low complexity region	101	124	N/A	INTRINSIC
PDZ	213	295	3.82e-20	SMART
PDZ	393	468	3.01e-18	SMART
low complexity region	479	498	N/A	INTRINSIC
low complexity region	506	517	N/A	INTRINSIC
coiled coil region	633	669	N/A	INTRINSIC
low complexity region	802	816	N/A	INTRINSIC
low complexity region	935	948	N/A	INTRINSIC
low complexity region	971	980	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,942,598	V59A	unknown	Het
A2ml1	C	A	6: 128,553,338		probably benign	Het
Akap13	G	A	7: 75,602,911	R263H	probably benign	Het
B3galt5	A	G	16: 96,315,530	D121G	possibly damaging	Het
Becn1	A	G	11: 101,291,535		probably benign	Het
Carmil1	A	T	13: 24,155,410	L150*	probably null	Het
Cep170	A	T	1: 176,769,366	M475K	probably benign	Het
Cyp24a1	C	T	2: 170,496,572	G68D	probably damaging	Het
Cyp3a44	A	T	5: 145,805,737	I18N	probably benign	Het
Dmrt2	T	C	19: 25,678,459	V474A	probably benign	Het
Dtnb	A	G	12: 3,596,691	D64G	probably damaging	Het
Epb41l3	T	C	17: 69,247,573	S223P	probably damaging	Het
Ephb2	A	G	4: 136,771,049	Y240H	possibly damaging	Het
Extl3	T	C	14: 65,077,583	Y50C	probably damaging	Het
Fat3	A	C	9: 15,915,577	S4360A	possibly damaging	Het
Fbxo9	A	T	9: 78,087,553	V230E	probably damaging	Het
Frmd4a	T	C	2: 4,604,234	M971T	probably benign	Het
Gm7275	A	G	16: 48,073,822		noncoding transcript	Het
Hyal6	C	T	6: 24,740,859	T337I	probably damaging	Het
Obsl1	C	T	1: 75,487,713	V1650M	probably damaging	Het
Olfr143	A	T	9: 38,253,936	D173V	possibly damaging	Het
Olfr341	A	T	2: 36,479,567	S188T	possibly damaging	Het
Olfr619	T	A	7: 103,603,882	I76N	probably damaging	Het
Olfr860	A	T	9: 19,845,728	I297N	possibly damaging	Het
Pcdh7	A	C	5: 57,913,322	E1114A	probably damaging	Het
Pde8a	C	T	7: 81,308,802		probably benign	Het
Pear1	C	T	3: 87,756,264	G376S	probably damaging	Het
Plekha6	C	T	1: 133,287,849	T644M	possibly damaging	Het
Plpp1	T	A	13: 112,856,992	C153S	probably damaging	Het
Ptpn3	G	A	4: 57,197,510	T793M	possibly damaging	Het
Rdh13	A	T	7: 4,445,498	L5Q	possibly damaging	Het
Rimbp2	G	T	5: 128,774,295	D862E	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Scamp1	C	T	13: 94,232,186		probably benign	Het
Scamp3	A	G	3: 89,180,734	T178A	probably benign	Het
Sh3tc1	A	G	5: 35,706,284	V853A	probably benign	Het
Snrnp200	C	T	2: 127,229,991	T1197M	possibly damaging	Het
Sult3a1	T	C	10: 33,879,263	F275L	probably benign	Het
Tenm4	A	T	7: 96,823,822	I905F	probably damaging	Het
Tgm3	T	A	2: 130,024,518	S119T	probably benign	Het
Tmem131l	A	T	3: 83,938,050	D424E	possibly damaging	Het
Tmem45b	G	T	9: 31,427,983	C145*	probably null	Het
Unc5c	G	A	3: 141,788,982	R352H	probably damaging	Het
Vmn2r12	A	G	5: 109,086,477	L623P	probably damaging	Het
Vmn2r68	T	C	7: 85,221,739	M779V	possibly damaging	Het
Zfhx2	T	C	14: 55,071,936	N902S	probably benign	Het

Other mutations in Pdzrn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01932:Pdzrn4	APN	15	92746278	missense	probably damaging	1.00
IGL01991:Pdzrn4	APN	15	92401926	splice site	probably null
IGL02103:Pdzrn4	APN	15	92769887	missense	probably damaging	1.00
IGL02243:Pdzrn4	APN	15	92770696	missense	probably benign	0.30
IGL03005:Pdzrn4	APN	15	92770391	missense	probably damaging	1.00
PIT4362001:Pdzrn4	UTSW	15	92769881	missense	possibly damaging	0.46
R0243:Pdzrn4	UTSW	15	92770319	missense	possibly damaging	0.46
R0367:Pdzrn4	UTSW	15	92757657	missense	possibly damaging	0.53
R0972:Pdzrn4	UTSW	15	92757711	missense	probably benign	0.00
R1168:Pdzrn4	UTSW	15	92770271	missense	probably benign	0.16
R1411:Pdzrn4	UTSW	15	92771013	makesense	probably null
R1466:Pdzrn4	UTSW	15	92770537	missense	probably benign	0.00
R1466:Pdzrn4	UTSW	15	92770537	missense	probably benign	0.00
R1489:Pdzrn4	UTSW	15	92677712	missense	probably benign
R1503:Pdzrn4	UTSW	15	92399804	missense	probably damaging	0.99
R1561:Pdzrn4	UTSW	15	92677637	missense	possibly damaging	0.84
R1584:Pdzrn4	UTSW	15	92770537	missense	probably benign	0.00
R1733:Pdzrn4	UTSW	15	92401974	missense	probably benign	0.06
R1965:Pdzrn4	UTSW	15	92746309	splice site	probably null
R2061:Pdzrn4	UTSW	15	92770160	missense	probably damaging	0.99
R3010:Pdzrn4	UTSW	15	92769811	missense	probably benign	0.32
R4016:Pdzrn4	UTSW	15	92399749	missense	probably benign
R4032:Pdzrn4	UTSW	15	92769533	missense	probably damaging	1.00
R4110:Pdzrn4	UTSW	15	92770864	missense	probably benign	0.26
R4180:Pdzrn4	UTSW	15	92402017	missense	possibly damaging	0.93
R4539:Pdzrn4	UTSW	15	92770589	missense	probably damaging	1.00
R4617:Pdzrn4	UTSW	15	92769842	missense	probably damaging	1.00
R4734:Pdzrn4	UTSW	15	92770252	nonsense	probably null
R4900:Pdzrn4	UTSW	15	92770757	missense	probably damaging	1.00
R5422:Pdzrn4	UTSW	15	92677621	missense	probably benign	0.01
R5444:Pdzrn4	UTSW	15	92770925	missense	probably damaging	1.00
R5772:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R5775:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R5935:Pdzrn4	UTSW	15	92397374	missense	probably benign	0.01
R6192:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R6210:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R6258:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R6259:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R6391:Pdzrn4	UTSW	15	92680537	missense	probably damaging	0.99
R6613:Pdzrn4	UTSW	15	92677574	missense	probably damaging	0.99
R7046:Pdzrn4	UTSW	15	92770422	nonsense	probably null
R7096:Pdzrn4	UTSW	15	92397503	missense	probably benign	0.00
R7451:Pdzrn4	UTSW	15	92770067	missense	possibly damaging	0.68
R8075:Pdzrn4	UTSW	15	92677724	missense	probably damaging	0.99
R8125:Pdzrn4	UTSW	15	92743595	missense	probably damaging	1.00
R8324:Pdzrn4	UTSW	15	92770937	missense	probably damaging	1.00
R9332:Pdzrn4	UTSW	15	92397335	missense	probably benign
R9555:Pdzrn4	UTSW	15	92399822	missense	probably damaging	1.00
R9558:Pdzrn4	UTSW	15	92401996	missense	possibly damaging	0.46
R9622:Pdzrn4	UTSW	15	92397068	missense	probably benign
R9763:Pdzrn4	UTSW	15	92770495	missense	probably damaging	1.00
R9796:Pdzrn4	UTSW	15	92680472	missense	possibly damaging	0.93
X0018:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
X0020:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
X0021:Pdzrn4	UTSW	15	92677709	missense	probably damaging	1.00
X0026:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
X0027:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
X0027:Pdzrn4	UTSW	15	92680512	missense	possibly damaging	0.92
X0065:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
Z1176:Pdzrn4	UTSW	15	92396957	missense	probably benign	0.03

Posted On

2015-04-16