Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02447:Pdcd5'

294012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdcd5

Ensembl Gene

ENSMUSG00000030417

Gene Name

programmed cell death 5

Synonyms

2200003D22Rik, Tfar19

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL02447

Quality Score

Status

Chromosome

Chromosomal Location

35341410-35346907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35342110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 166 (V166A)

Ref Sequence

ENSEMBL: ENSMUSP00000113013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040844] [ENSMUST00000118501] [ENSMUST00000120714] [ENSMUST00000190503]

AlphaFold

P56812

Predicted Effect

probably benign
Transcript: ENSMUST00000040844

SMART Domains

Protein: ENSMUSP00000041751
Gene: ENSMUSG00000034867

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	2e-8	BLAST
VPS9	264	380	1.92e-7	SMART
Blast:ANK	393	418	8e-9	BLAST
low complexity region	419	430	N/A	INTRINSIC
ANK	462	491	8.65e-5	SMART
ANK	495	524	1.8e-2	SMART
ANK	528	558	2.45e-4	SMART
ANK	564	593	6.46e-4	SMART
low complexity region	638	658	N/A	INTRINSIC
ANK	742	774	8.39e-3	SMART
ANK	775	804	5.93e-3	SMART
ANK	808	837	4.46e-7	SMART
ANK	841	870	2.81e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118501
AA Change: V87A

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113761
Gene: ENSMUSG00000030417
AA Change: V87A

Domain	Start	End	E-Value	Type
Pfam:dsDNA_bind	9	113	9.6e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120714
AA Change: V166A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113013
Gene: ENSMUSG00000030417
AA Change: V166A

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	29	39	N/A	INTRINSIC
low complexity region	56	64	N/A	INTRINSIC
Pfam:dsDNA_bind	91	192	1.9e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151336

Predicted Effect

probably benign
Transcript: ENSMUST00000190503

SMART Domains

Protein: ENSMUSP00000140259
Gene: ENSMUSG00000034867

Domain	Start	End	E-Value	Type
Blast:ANK	8	37	2e-8	BLAST
VPS9	264	380	1.92e-7	SMART
Blast:ANK	393	418	7e-9	BLAST
low complexity region	419	430	N/A	INTRINSIC
ANK	462	491	8.65e-5	SMART
ANK	495	524	1.8e-2	SMART
ANK	528	558	2.45e-4	SMART
ANK	564	593	6.46e-4	SMART
low complexity region	638	658	N/A	INTRINSIC
ANK	687	719	8.39e-3	SMART
ANK	720	749	5.93e-3	SMART
ANK	753	782	4.46e-7	SMART
ANK	786	815	2.81e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	A	4: 144,401,269 (GRCm39)	I72F	probably benign	Het
Abhd18	T	A	3: 40,888,208 (GRCm39)	F351I	probably benign	Het
Agfg1	T	A	1: 82,859,944 (GRCm39)		probably benign	Het
Antxr2	C	T	5: 98,178,267 (GRCm39)	V48I	possibly damaging	Het
Bcl9l	T	C	9: 44,418,631 (GRCm39)	M823T	probably benign	Het
Card11	G	A	5: 140,892,679 (GRCm39)	H129Y	possibly damaging	Het
Ccr1	A	T	9: 123,763,753 (GRCm39)	V259E	probably benign	Het
Cdk13	G	T	13: 17,947,001 (GRCm39)	P586T	probably benign	Het
Cep295	C	T	9: 15,243,807 (GRCm39)	V1502I	probably damaging	Het
Csnk1g3	T	C	18: 54,028,942 (GRCm39)	S32P	probably benign	Het
Dpysl4	G	A	7: 138,678,516 (GRCm39)	R492Q	probably damaging	Het
Duox2	A	G	2: 122,127,949 (GRCm39)	L78P	probably damaging	Het
Gm7361	T	C	5: 26,462,853 (GRCm39)	S32P	probably benign	Het
Grip1	T	A	10: 119,855,976 (GRCm39)	V234E	probably damaging	Het
Herc1	A	T	9: 66,404,610 (GRCm39)	I4477L	possibly damaging	Het
Il18r1	G	A	1: 40,537,497 (GRCm39)		probably null	Het
Itpkb	A	G	1: 180,248,919 (GRCm39)		probably benign	Het
Jag2	T	C	12: 112,876,232 (GRCm39)	Y799C	probably damaging	Het
Jak2	A	G	19: 29,277,014 (GRCm39)	K857R	probably damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Kcnc2	T	G	10: 112,291,851 (GRCm39)	D346E	probably damaging	Het
Kcnh1	T	A	1: 191,907,224 (GRCm39)	M92K	possibly damaging	Het
Kcnk1	A	G	8: 126,751,819 (GRCm39)	I142V	probably damaging	Het
Lsm11	T	C	11: 45,828,191 (GRCm39)	N196D	probably damaging	Het
Mpeg1	G	T	19: 12,440,156 (GRCm39)	C538F	probably damaging	Het
Nrap	G	A	19: 56,333,951 (GRCm39)	Q969*	probably null	Het
Nt5el	A	T	13: 105,236,967 (GRCm39)	S73C	probably damaging	Het
Nup205	T	C	6: 35,204,511 (GRCm39)		probably null	Het
Plcb2	A	T	2: 118,543,636 (GRCm39)	I745N	probably damaging	Het
Ptprt	T	C	2: 162,120,027 (GRCm39)	T147A	probably benign	Het
Rbp3	A	T	14: 33,676,460 (GRCm39)	D136V	probably damaging	Het
Ripor3	G	T	2: 167,834,750 (GRCm39)	T247N	probably damaging	Het
Sgcd	A	C	11: 46,870,082 (GRCm39)		probably benign	Het
Slc26a6	T	C	9: 108,734,251 (GRCm39)	Y211H	probably benign	Het
Slc37a3	T	A	6: 39,314,129 (GRCm39)	E494D	probably benign	Het
Smc5	T	C	19: 23,234,856 (GRCm39)	E326G	probably benign	Het
Tctn2	T	C	5: 124,753,316 (GRCm39)		noncoding transcript	Het
Tk2	T	A	8: 104,967,770 (GRCm39)	N93I	probably damaging	Het
Tmed6	A	G	8: 107,792,240 (GRCm39)	F2L	possibly damaging	Het
Tox3	A	G	8: 90,984,781 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 127,941,401 (GRCm39)	Y237C	probably benign	Het
Ubqlnl	A	G	7: 103,797,856 (GRCm39)	L547P	probably damaging	Het
Uggt1	T	C	1: 36,189,223 (GRCm39)	D1421G	probably damaging	Het
Unc80	T	A	1: 66,542,703 (GRCm39)	I319K	possibly damaging	Het
Vac14	A	G	8: 111,380,260 (GRCm39)	D441G	probably benign	Het
Vamp8	C	T	6: 72,365,316 (GRCm39)	V5M	probably damaging	Het
Yeats2	T	A	16: 20,012,429 (GRCm39)	H560Q	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp773	G	T	7: 7,139,655 (GRCm39)		probably benign	Het

Other mutations in Pdcd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02954:Pdcd5	APN	7	35,343,089 (GRCm39)	missense	probably damaging	1.00
R0825:Pdcd5	UTSW	7	35,346,338 (GRCm39)	missense	possibly damaging	0.75
R4426:Pdcd5	UTSW	7	35,345,605 (GRCm39)	missense	possibly damaging	0.49
R4614:Pdcd5	UTSW	7	35,346,472 (GRCm39)	intron	probably benign
R4860:Pdcd5	UTSW	7	35,343,135 (GRCm39)	missense	possibly damaging	0.50
R4860:Pdcd5	UTSW	7	35,343,135 (GRCm39)	missense	possibly damaging	0.50
R4984:Pdcd5	UTSW	7	35,342,110 (GRCm39)	missense	probably damaging	1.00
R5249:Pdcd5	UTSW	7	35,346,421 (GRCm39)	intron	probably benign
R5682:Pdcd5	UTSW	7	35,346,613 (GRCm39)	start gained	probably benign
R6384:Pdcd5	UTSW	7	35,346,334 (GRCm39)	missense	possibly damaging	0.60
R6787:Pdcd5	UTSW	7	35,342,063 (GRCm39)	missense	probably damaging	0.99
R8896:Pdcd5	UTSW	7	35,346,795 (GRCm39)	start codon destroyed	probably null	0.84
R9469:Pdcd5	UTSW	7	35,343,827 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16