Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01991:Pdzrn4'

182881

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 #

IGL01991

Quality Score

Status

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 92401926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

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

AlphaFold

E9PUZ9

Predicted Effect

probably null
Transcript: ENSMUST00000169942

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,953,110	F145I	probably benign	Het
Acot7	A	G	4: 152,223,079	K152E	possibly damaging	Het
Adamts13	G	T	2: 26,990,598	G731V	probably damaging	Het
Als2cl	C	T	9: 110,892,917	R584C	probably benign	Het
Apba1	T	A	19: 23,937,472	S679T	possibly damaging	Het
Asxl3	G	A	18: 22,516,162	V403I	probably damaging	Het
Card11	T	C	5: 140,913,378	T14A	possibly damaging	Het
Creb1	T	C	1: 64,559,754	F97L	probably benign	Het
Crispld1	T	A	1: 17,753,017	H407Q	probably benign	Het
Crtac1	A	T	19: 42,414,121	L16Q	possibly damaging	Het
Cyp2c29	T	C	19: 39,330,315	I452T	probably damaging	Het
Dennd5b	A	T	6: 149,080,824	D95E	probably damaging	Het
Dysf	C	T	6: 84,113,618	P1002L	probably damaging	Het
Gm6878	G	A	14: 67,306,229		probably benign	Het
Gm7682	A	T	5: 94,445,846	Q10L	probably benign	Het
Greb1	T	C	12: 16,699,681	Y1048C	probably damaging	Het
Iqcc	T	A	4: 129,617,789	E105V	probably benign	Het
Lhx8	A	G	3: 154,324,554	L116P	probably damaging	Het
Lrrk2	A	G	15: 91,779,946	D1962G	probably damaging	Het
Map1b	T	A	13: 99,429,569	M2215L	unknown	Het
Mapk8ip3	A	T	17: 24,927,861	L136Q	possibly damaging	Het
Mical3	T	C	6: 120,935,211	N1896D	probably damaging	Het
Mprip	A	G	11: 59,755,012	E674G	probably damaging	Het
Olfr1045	T	C	2: 86,198,533	N73S	probably benign	Het
Olfr524	C	T	7: 140,202,432	E113K	probably damaging	Het
Prom1	T	C	5: 44,047,506	T209A	probably benign	Het
Prom2	C	A	2: 127,529,222	C785F	probably damaging	Het
Psg20	T	C	7: 18,684,425	Q139R	probably benign	Het
Rapgef6	T	A	11: 54,552,869	C93S	probably benign	Het
Rassf2	C	T	2: 132,000,432		probably null	Het
Scn11a	A	G	9: 119,819,904	I31T	probably damaging	Het
Slc4a5	A	T	6: 83,263,543	D164V	possibly damaging	Het
Slco3a1	T	C	7: 74,284,396	D676G	possibly damaging	Het
Tmcc2	T	C	1: 132,361,092	I208V	probably benign	Het
Traf4	T	C	11: 78,160,046	D428G	possibly damaging	Het
Trio	T	C	15: 27,871,274	I586V	possibly damaging	Het
Unc80	T	A	1: 66,469,509	C46*	probably null	Het
Vmn2r89	A	G	14: 51,452,219	N60D	probably benign	Het
Wscd1	A	T	11: 71,787,723	K391*	probably null	Het
Wwc2	A	T	8: 47,869,866	L400*	probably null	Het

Other mutations in Pdzrn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01932:Pdzrn4	APN	15	92746278	missense	probably damaging	1.00
IGL02103:Pdzrn4	APN	15	92769887	missense	probably damaging	1.00
IGL02243:Pdzrn4	APN	15	92770696	missense	probably benign	0.30
IGL02269:Pdzrn4	APN	15	92769850	missense	probably damaging	1.00
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

2014-05-07