Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01160:Pcnx4'

53901

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcnx4

Ensembl Gene

ENSMUSG00000034501

Gene Name

pecanex homolog 4

Synonyms

1810048J11Rik, Pcnxl4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

IGL01160

Quality Score

Status

Chromosome

Chromosomal Location

72536383-72580119 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72579377 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1119 (V1119G)

Ref Sequence

ENSEMBL: ENSMUSP00000038916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044352]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044352
AA Change: V1119G

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

SMART Domains

Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: V1119G

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	247	264	N/A	INTRINSIC
transmembrane domain	296	330	N/A	INTRINSIC
transmembrane domain	368	390	N/A	INTRINSIC
transmembrane domain	400	417	N/A	INTRINSIC
transmembrane domain	454	476	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
transmembrane domain	546	564	N/A	INTRINSIC
transmembrane domain	577	599	N/A	INTRINSIC
low complexity region	657	670	N/A	INTRINSIC
low complexity region	801	813	N/A	INTRINSIC
Pfam:Pecanex_C	999	1174	4.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000222413

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
2210016F16Rik	A	G	13: 58,381,976	V274A	probably damaging	Het
Atp11a	A	G	8: 12,844,609	T188A	probably damaging	Het
Bfsp2	A	G	9: 103,480,168	V20A	probably benign	Het
Btn1a1	G	A	13: 23,461,737	T154M	possibly damaging	Het
Ccdc117	T	C	11: 5,531,532	S200G	probably benign	Het
Col24a1	G	A	3: 145,507,713	G1358S	probably damaging	Het
Crlf2	T	C	5: 109,557,570	T40A	possibly damaging	Het
Cstf2	T	A	X: 134,060,729		probably benign	Het
Dcdc2a	A	G	13: 25,119,329	D281G	probably benign	Het
Dmd	T	C	X: 83,924,961	L1855P	probably damaging	Het
Dnajc5g	T	C	5: 31,110,185	V112A	probably benign	Het
Dnmt1	G	A	9: 20,917,319	P828S	possibly damaging	Het
Dock3	A	T	9: 106,906,688	S268R	probably damaging	Het
Dpep2	C	T	8: 105,986,444	V440M	possibly damaging	Het
F8	A	T	X: 75,288,061	M741K	probably damaging	Het
Fermt3	C	T	19: 7,003,258		probably null	Het
Fosb	A	G	7: 19,307,114		probably null	Het
Gm14085	A	C	2: 122,524,796		probably null	Het
Gm3238	C	A	10: 77,770,883		probably benign	Het
Hyal5	T	A	6: 24,876,481	S118T	possibly damaging	Het
Igf2r	T	C	17: 12,704,775	D1140G	possibly damaging	Het
Ighmbp2	G	T	19: 3,276,750		probably benign	Het
Irf3	C	A	7: 44,998,796	D28E	possibly damaging	Het
Ly6i	A	T	15: 74,980,032	I96N	possibly damaging	Het
Macrod2	T	C	2: 140,825,042		probably benign	Het
Olfr1222	A	T	2: 89,125,728	M1K	probably null	Het
Olfr124	A	G	17: 37,806,050	R302G	probably benign	Het
Olfr1309	A	G	2: 111,983,933	L47P	probably damaging	Het
Olfr67	C	T	7: 103,787,636	G214R	probably damaging	Het
Otof	A	T	5: 30,381,535	M1128K	probably benign	Het
Parp9	A	T	16: 35,947,998	I183F	probably damaging	Het
Pbsn	T	C	X: 77,842,571	N147S	probably benign	Het
Pcf11	A	G	7: 92,661,686	S365P	possibly damaging	Het
Rsf1	C	T	7: 97,685,584	T1308M	probably damaging	Het
Sidt2	A	G	9: 45,942,726	L647P	probably damaging	Het
Slc7a8	A	G	14: 54,735,124	V280A	probably benign	Het
Spg20	T	A	3: 55,121,756	F323I	probably damaging	Het
Supt16	A	T	14: 52,183,132	D70E	probably benign	Het
Tmc4	T	C	7: 3,675,518	Y38C	possibly damaging	Het
Tmco5b	G	T	2: 113,287,798		probably benign	Het
Trav10	G	A	14: 53,505,782		probably benign	Het
Vmn2r28	A	T	7: 5,486,478	M454K	probably damaging	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het
Yipf7	T	C	5: 69,519,317	I160V	probably benign	Het
Zc3h18	T	C	8: 122,408,250		probably benign	Het
Zfp429	G	A	13: 67,391,013	S91L	probably damaging	Het

Other mutations in Pcnx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Pcnx4	APN	12	72579365	missense	probably damaging	0.97
IGL01385:Pcnx4	APN	12	72573746	missense	probably damaging	1.00
IGL01452:Pcnx4	APN	12	72574400	missense	possibly damaging	0.79
IGL01984:Pcnx4	APN	12	72574409	missense	probably benign	0.25
IGL02073:Pcnx4	APN	12	72574328	missense	possibly damaging	0.92
IGL02726:Pcnx4	APN	12	72574212	missense	probably benign	0.12
IGL02824:Pcnx4	APN	12	72555571	missense	probably benign	0.02
R0007:Pcnx4	UTSW	12	72555579	missense	possibly damaging	0.79
R0158:Pcnx4	UTSW	12	72556302	missense	probably benign
R0575:Pcnx4	UTSW	12	72567236	missense	probably benign	0.00
R0783:Pcnx4	UTSW	12	72575478	missense	probably damaging	1.00
R1420:Pcnx4	UTSW	12	72555986	missense	probably benign
R1497:Pcnx4	UTSW	12	72574400	missense	probably benign	0.03
R2093:Pcnx4	UTSW	12	72579442	missense	probably damaging	1.00
R2241:Pcnx4	UTSW	12	72574154	missense	probably damaging	0.99
R2287:Pcnx4	UTSW	12	72575398	missense	probably benign	0.05
R2418:Pcnx4	UTSW	12	72556263	missense	probably damaging	1.00
R2437:Pcnx4	UTSW	12	72541813	missense	probably damaging	1.00
R2509:Pcnx4	UTSW	12	72566972	missense	probably damaging	1.00
R2510:Pcnx4	UTSW	12	72566972	missense	probably damaging	1.00
R2512:Pcnx4	UTSW	12	72556799	critical splice acceptor site	probably null
R3691:Pcnx4	UTSW	12	72573719	missense	probably damaging	1.00
R3760:Pcnx4	UTSW	12	72567006	missense	probably damaging	1.00
R3949:Pcnx4	UTSW	12	72556302	missense	probably benign
R4065:Pcnx4	UTSW	12	72556360	critical splice donor site	probably null
R4757:Pcnx4	UTSW	12	72556293	missense	probably benign	0.00
R4804:Pcnx4	UTSW	12	72574202	missense	probably benign	0.28
R4867:Pcnx4	UTSW	12	72573952	missense	probably benign	0.01
R4879:Pcnx4	UTSW	12	72567185	missense	probably damaging	1.00
R5108:Pcnx4	UTSW	12	72574081	missense	probably benign	0.01
R5350:Pcnx4	UTSW	12	72579364	missense	probably damaging	1.00
R5504:Pcnx4	UTSW	12	72574448	missense	probably damaging	1.00
R5718:Pcnx4	UTSW	12	72567194	missense	possibly damaging	0.49
R5943:Pcnx4	UTSW	12	72579458	missense	probably damaging	0.99
R6195:Pcnx4	UTSW	12	72556874	missense	possibly damaging	0.92
R7134:Pcnx4	UTSW	12	72566976	missense	probably damaging	0.96
R7695:Pcnx4	UTSW	12	72541576	missense	probably benign	0.00
R7837:Pcnx4	UTSW	12	72556118	missense	probably damaging	1.00
R7850:Pcnx4	UTSW	12	72556068	missense	probably benign
R8153:Pcnx4	UTSW	12	72556243	missense	probably benign	0.00
R8174:Pcnx4	UTSW	12	72556913	missense	probably damaging	1.00
R8322:Pcnx4	UTSW	12	72556663	missense	probably damaging	1.00
R8340:Pcnx4	UTSW	12	72567077	missense	probably damaging	1.00
R8399:Pcnx4	UTSW	12	72574211	missense	probably benign	0.39
R8545:Pcnx4	UTSW	12	72556082	missense	probably benign	0.00

Posted On

2013-06-28