Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02103:Pdzrn4'

279855

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 #

IGL02103

Quality Score

Status

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92769887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 640 (V640E)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

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

AlphaFold

E9PUZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035399
AA Change: V401E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: V401E

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: V640E

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

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: V640E

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,612,364	T206M	probably benign	Het
Adcy3	T	A	12: 4,134,390	V22D	possibly damaging	Het
Alb	G	A	5: 90,464,131	E140K	probably benign	Het
Aph1a	G	A	3: 95,895,813	V193I	probably damaging	Het
Asb2	G	A	12: 103,333,496	R178*	probably null	Het
Celf3	A	T	3: 94,486,801	Q137L	probably damaging	Het
Cmya5	T	C	13: 93,092,127	D2151G	probably benign	Het
Cuedc1	T	A	11: 88,188,799	S353T	probably damaging	Het
Dlg5	A	C	14: 24,144,346	L1709R	probably damaging	Het
Dst	T	C	1: 34,190,118	I1939T	possibly damaging	Het
Emx2	A	T	19: 59,461,698	N149I	probably benign	Het
Fancm	A	G	12: 65,095,784	D472G	probably benign	Het
Fasn	T	C	11: 120,811,936	Y1700C	probably damaging	Het
Fat2	T	A	11: 55,289,296	R1406S	probably damaging	Het
Fat4	C	A	3: 38,889,199	T747K	probably damaging	Het
Fer	A	G	17: 64,138,928	M795V	probably benign	Het
Gm5916	A	G	9: 36,128,674	L6P	probably damaging	Het
Gpr139	A	G	7: 119,145,132	F77L	possibly damaging	Het
Kcnu1	T	C	8: 25,905,948	S654P	possibly damaging	Het
Kdm5c	T	A	X: 152,248,766	F408L	probably damaging	Het
Kel	A	G	6: 41,702,389	S147P	probably benign	Het
Klra5	A	T	6: 129,911,344		probably null	Het
Mastl	A	G	2: 23,139,998	S239P	probably benign	Het
Med18	A	T	4: 132,459,666	V174D	probably damaging	Het
Mgat4a	A	T	1: 37,462,926	M247K	possibly damaging	Het
Mx2	A	C	16: 97,544,595	D71A	probably damaging	Het
Nxt1	G	T	2: 148,675,644	E102*	probably null	Het
Olfr125	A	G	17: 37,835,278	Q93R	possibly damaging	Het
Olfr410	A	G	11: 74,335,036	F65S	probably damaging	Het
Olfr828	T	C	9: 18,815,709	N195S	probably damaging	Het
Pcdhb16	T	A	18: 37,480,108	V707E	probably benign	Het
Piwil4	T	C	9: 14,725,986		probably null	Het
Pla2g4a	A	T	1: 149,901,199	D55E	probably damaging	Het
Plekhg2	C	A	7: 28,360,076	R1276L	probably damaging	Het
Psd4	G	A	2: 24,400,528	W539*	probably null	Het
Rae1	G	A	2: 173,003,513	E33K	probably damaging	Het
Rbm12b1	T	A	4: 12,145,563	F512I	probably damaging	Het
Rfx6	A	G	10: 51,726,856	D823G	possibly damaging	Het
Samt3	A	T	X: 86,047,153	Q217L	probably damaging	Het
Selenbp2	A	G	3: 94,698,131	N134S	probably null	Het
Selenoo	T	C	15: 89,099,970	V663A	probably damaging	Het
Sp4	G	T	12: 118,299,549	T254N	probably damaging	Het
Spdya	A	G	17: 71,578,247	K232R	probably benign	Het
Stom	A	T	2: 35,320,389	V201E	probably benign	Het
Sycp3	A	G	10: 88,466,472	K108R	possibly damaging	Het
Usp2	A	G	9: 44,089,128		probably benign	Het
Vmn1r226	T	C	17: 20,687,664	S53P	probably damaging	Het
Vmn2r14	C	T	5: 109,224,483	G47D	probably damaging	Het
Vwf	T	G	6: 125,646,355	L1805W	probably damaging	Het
Washc3	A	T	10: 88,201,825	Q22L	probably damaging	Het
Wdr81	T	A	11: 75,444,720	D1761V	probably damaging	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
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

2015-04-16