Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01984:Pcnx4'

181831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcnx4

Ensembl Gene

ENSMUSG00000034501

Gene Name

pecanex homolog 4

Synonyms

Pcnxl4, 1810048J11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL01984

Quality Score

Status

Chromosome

Chromosomal Location

72583157-72626893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72621183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1001 (V1001A)

Ref Sequence

ENSEMBL: ENSMUSP00000038916 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044352
AA Change: V1001A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: V1001A

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	T	3: 89,970,537 (GRCm39)	L24F	probably benign	Het
Adamts16	T	C	13: 70,935,266 (GRCm39)	D442G	probably damaging	Het
Ankmy1	T	C	1: 92,811,487 (GRCm39)	T634A	probably damaging	Het
Anxa3	A	T	5: 96,982,630 (GRCm39)		probably benign	Het
Ccnh	T	C	13: 85,354,270 (GRCm39)	L202P	probably damaging	Het
Clcn3	A	T	8: 61,382,614 (GRCm39)	S325T	probably damaging	Het
Clec2d	A	T	6: 129,161,192 (GRCm39)	E96D	possibly damaging	Het
Csn1s1	A	T	5: 87,824,369 (GRCm39)		probably benign	Het
Dcun1d5	T	A	9: 7,205,307 (GRCm39)	Y189N	possibly damaging	Het
Dnah7a	T	C	1: 53,741,174 (GRCm39)		probably null	Het
Dpcd	C	T	19: 45,565,469 (GRCm39)	H148Y	probably benign	Het
Efcab3	T	A	11: 104,629,134 (GRCm39)	D937E	probably benign	Het
Erg	T	G	16: 95,210,786 (GRCm39)	D15A	probably damaging	Het
Gm21759	T	A	5: 8,230,547 (GRCm39)		probably benign	Het
Heatr5b	C	T	17: 79,103,926 (GRCm39)	R1083Q	possibly damaging	Het
Ints3	A	G	3: 90,299,533 (GRCm39)	S1012P	possibly damaging	Het
Klhl3	C	T	13: 58,159,057 (GRCm39)		probably benign	Het
Lama4	T	A	10: 38,951,525 (GRCm39)		probably null	Het
Magi1	A	T	6: 93,685,155 (GRCm39)	V740D	probably damaging	Het
Nme8	C	A	13: 19,873,150 (GRCm39)	V165L	probably damaging	Het
Odf2l	G	T	3: 144,845,590 (GRCm39)	E5*	probably null	Het
Or14j4	T	C	17: 37,934,552 (GRCm39)		probably benign	Het
Or4k47	A	G	2: 111,451,927 (GRCm39)	L164S	probably benign	Het
Or56a5	A	T	7: 104,792,923 (GRCm39)	D192E	probably benign	Het
Plaa	A	G	4: 94,459,922 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,526,643 (GRCm39)	A1305T	probably benign	Het
Rnps1	T	C	17: 24,643,371 (GRCm39)		probably benign	Het
St8sia5	T	C	18: 77,336,157 (GRCm39)	F197L	probably benign	Het
Sult3a1	G	T	10: 33,755,205 (GRCm39)	G257*	probably null	Het
Svep1	A	C	4: 58,068,877 (GRCm39)	Y2970D	possibly damaging	Het
Tns3	G	T	11: 8,498,992 (GRCm39)	Y30*	probably null	Het
Ubr1	G	T	2: 120,751,867 (GRCm39)	P791T	probably damaging	Het
Zfp592	T	C	7: 80,688,392 (GRCm39)	V1039A	probably benign	Het

Other mutations in Pcnx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Pcnx4	APN	12	72,626,139 (GRCm39)	missense	probably damaging	0.97
IGL01160:Pcnx4	APN	12	72,626,151 (GRCm39)	missense	probably damaging	1.00
IGL01385:Pcnx4	APN	12	72,620,520 (GRCm39)	missense	probably damaging	1.00
IGL01452:Pcnx4	APN	12	72,621,174 (GRCm39)	missense	possibly damaging	0.79
IGL02073:Pcnx4	APN	12	72,621,102 (GRCm39)	missense	possibly damaging	0.92
IGL02726:Pcnx4	APN	12	72,620,986 (GRCm39)	missense	probably benign	0.12
IGL02824:Pcnx4	APN	12	72,602,345 (GRCm39)	missense	probably benign	0.02
R0007:Pcnx4	UTSW	12	72,602,353 (GRCm39)	missense	possibly damaging	0.79
R0158:Pcnx4	UTSW	12	72,603,076 (GRCm39)	missense	probably benign
R0575:Pcnx4	UTSW	12	72,614,010 (GRCm39)	missense	probably benign	0.00
R0783:Pcnx4	UTSW	12	72,622,252 (GRCm39)	missense	probably damaging	1.00
R1420:Pcnx4	UTSW	12	72,602,760 (GRCm39)	missense	probably benign
R1497:Pcnx4	UTSW	12	72,621,174 (GRCm39)	missense	probably benign	0.03
R2093:Pcnx4	UTSW	12	72,626,216 (GRCm39)	missense	probably damaging	1.00
R2241:Pcnx4	UTSW	12	72,620,928 (GRCm39)	missense	probably damaging	0.99
R2287:Pcnx4	UTSW	12	72,622,172 (GRCm39)	missense	probably benign	0.05
R2418:Pcnx4	UTSW	12	72,603,037 (GRCm39)	missense	probably damaging	1.00
R2437:Pcnx4	UTSW	12	72,588,587 (GRCm39)	missense	probably damaging	1.00
R2509:Pcnx4	UTSW	12	72,613,746 (GRCm39)	missense	probably damaging	1.00
R2510:Pcnx4	UTSW	12	72,613,746 (GRCm39)	missense	probably damaging	1.00
R2512:Pcnx4	UTSW	12	72,603,573 (GRCm39)	critical splice acceptor site	probably null
R3691:Pcnx4	UTSW	12	72,620,493 (GRCm39)	missense	probably damaging	1.00
R3760:Pcnx4	UTSW	12	72,613,780 (GRCm39)	missense	probably damaging	1.00
R3949:Pcnx4	UTSW	12	72,603,076 (GRCm39)	missense	probably benign
R4065:Pcnx4	UTSW	12	72,603,134 (GRCm39)	critical splice donor site	probably null
R4757:Pcnx4	UTSW	12	72,603,067 (GRCm39)	missense	probably benign	0.00
R4804:Pcnx4	UTSW	12	72,620,976 (GRCm39)	missense	probably benign	0.28
R4867:Pcnx4	UTSW	12	72,620,726 (GRCm39)	missense	probably benign	0.01
R4879:Pcnx4	UTSW	12	72,613,959 (GRCm39)	missense	probably damaging	1.00
R5108:Pcnx4	UTSW	12	72,620,855 (GRCm39)	missense	probably benign	0.01
R5350:Pcnx4	UTSW	12	72,626,138 (GRCm39)	missense	probably damaging	1.00
R5504:Pcnx4	UTSW	12	72,621,222 (GRCm39)	missense	probably damaging	1.00
R5718:Pcnx4	UTSW	12	72,613,968 (GRCm39)	missense	possibly damaging	0.49
R5943:Pcnx4	UTSW	12	72,626,232 (GRCm39)	missense	probably damaging	0.99
R6195:Pcnx4	UTSW	12	72,603,648 (GRCm39)	missense	possibly damaging	0.92
R7134:Pcnx4	UTSW	12	72,613,750 (GRCm39)	missense	probably damaging	0.96
R7695:Pcnx4	UTSW	12	72,588,350 (GRCm39)	missense	probably benign	0.00
R7837:Pcnx4	UTSW	12	72,602,892 (GRCm39)	missense	probably damaging	1.00
R7850:Pcnx4	UTSW	12	72,602,842 (GRCm39)	missense	probably benign
R8153:Pcnx4	UTSW	12	72,603,017 (GRCm39)	missense	probably benign	0.00
R8174:Pcnx4	UTSW	12	72,603,687 (GRCm39)	missense	probably damaging	1.00
R8322:Pcnx4	UTSW	12	72,603,437 (GRCm39)	missense	probably damaging	1.00
R8340:Pcnx4	UTSW	12	72,613,851 (GRCm39)	missense	probably damaging	1.00
R8399:Pcnx4	UTSW	12	72,620,985 (GRCm39)	missense	probably benign	0.39
R8545:Pcnx4	UTSW	12	72,602,856 (GRCm39)	missense	probably benign	0.00
R9018:Pcnx4	UTSW	12	72,603,437 (GRCm39)	missense	probably damaging	1.00
R9145:Pcnx4	UTSW	12	72,603,043 (GRCm39)	missense	probably damaging	1.00
R9149:Pcnx4	UTSW	12	72,613,671 (GRCm39)	missense	probably benign
R9233:Pcnx4	UTSW	12	72,603,587 (GRCm39)	missense	possibly damaging	0.95
R9378:Pcnx4	UTSW	12	72,602,664 (GRCm39)	missense	probably damaging	1.00
R9503:Pcnx4	UTSW	12	72,588,561 (GRCm39)	missense	probably damaging	1.00
R9619:Pcnx4	UTSW	12	72,622,282 (GRCm39)	missense	possibly damaging	0.81
R9670:Pcnx4	UTSW	12	72,613,792 (GRCm39)	missense	probably benign	0.00
R9719:Pcnx4	UTSW	12	72,603,039 (GRCm39)	missense	probably damaging	1.00
R9722:Pcnx4	UTSW	12	72,603,039 (GRCm39)	missense	probably damaging	1.00
R9723:Pcnx4	UTSW	12	72,603,039 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07