Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02096:Pdcd11'

281094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdcd11

Ensembl Gene

ENSMUSG00000025047

Gene Name

programmed cell death 11

Synonyms

ALG-4, 1110021I22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02096

Quality Score

Status

Chromosome

Chromosomal Location

47079183-47119585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 47094860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 548 (V548G)

Ref Sequence

ENSEMBL: ENSMUSP00000072008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072141] [ENSMUST00000140512]

AlphaFold

Q6NS46

Predicted Effect

probably benign
Transcript: ENSMUST00000072141
AA Change: V548G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047
AA Change: V548G

Domain	Start	End	E-Value	Type
low complexity region	53	76	N/A	INTRINSIC
S1	81	171	1.05e-7	SMART
S1	185	258	2.32e-9	SMART
S1	279	346	1.44e-5	SMART
S1	363	436	8.55e-8	SMART
S1	451	522	3.89e-20	SMART
S1	540	611	1.14e-17	SMART
S1	634	707	2.76e-2	SMART
S1	727	798	2.02e-18	SMART
low complexity region	813	823	N/A	INTRINSIC
S1	844	911	6.13e0	SMART
Blast:S1	923	993	8e-39	BLAST
low complexity region	1018	1032	N/A	INTRINSIC
S1	1045	1120	1.3e-7	SMART
S1	1158	1233	6.09e-4	SMART
S1	1239	1309	4.14e-6	SMART
S1	1333	1407	1.57e-6	SMART
low complexity region	1433	1473	N/A	INTRINSIC
coiled coil region	1557	1588	N/A	INTRINSIC
HAT	1591	1622	6.53e2	SMART
HAT	1624	1661	4.12e1	SMART
HAT	1663	1694	3.49e2	SMART
HAT	1696	1728	3.18e-1	SMART
HAT	1730	1764	2.25e2	SMART
HAT	1766	1798	8.52e-2	SMART
HAT	1800	1835	1.33e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140512

SMART Domains

Protein: ENSMUSP00000121661
Gene: ENSMUSG00000033033

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	6	258	2.9e-93	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,993,359 (GRCm39)	L1584P	probably damaging	Het
Abca9	G	T	11: 110,056,806 (GRCm39)	H5N	probably benign	Het
Acox1	A	T	11: 116,069,024 (GRCm39)	I371N	probably damaging	Het
Aopep	C	A	13: 63,208,903 (GRCm39)	A340E	probably benign	Het
Bmp5	A	G	9: 75,805,833 (GRCm39)	N445S	probably damaging	Het
Cacna1b	G	T	2: 24,568,927 (GRCm39)	A999E	probably benign	Het
Cdc27	A	T	11: 104,419,394 (GRCm39)		probably benign	Het
Dmxl2	T	C	9: 54,308,349 (GRCm39)	E2134G	possibly damaging	Het
Dnttip2	A	G	3: 122,078,062 (GRCm39)	N698S	possibly damaging	Het
Duox1	A	T	2: 122,174,655 (GRCm39)	K1271M	probably damaging	Het
Dync1h1	T	C	12: 110,599,254 (GRCm39)	Y1870H	possibly damaging	Het
Edem3	A	G	1: 151,680,470 (GRCm39)	T532A	probably benign	Het
Epx	A	T	11: 87,760,294 (GRCm39)	L440Q	probably damaging	Het
F11	A	G	8: 45,699,791 (GRCm39)	F432L	probably benign	Het
Fam185a	C	A	5: 21,630,341 (GRCm39)	P59Q	probably damaging	Het
Fsip2	A	G	2: 82,822,204 (GRCm39)	D5979G	possibly damaging	Het
Furin	A	G	7: 80,043,207 (GRCm39)	S335P	probably damaging	Het
Gtf3c1	T	A	7: 125,258,284 (GRCm39)	Q1262L	probably damaging	Het
Hmmr	A	T	11: 40,598,256 (GRCm39)	V652E	probably benign	Het
Iapp	A	T	6: 142,249,199 (GRCm39)	N84I	probably benign	Het
Katnip	G	A	7: 125,413,993 (GRCm39)	C379Y	probably benign	Het
Mmp17	C	T	5: 129,675,752 (GRCm39)	Q304*	probably null	Het
Mpl	T	C	4: 118,314,333 (GRCm39)	T55A	possibly damaging	Het
Mst1r	G	A	9: 107,794,478 (GRCm39)	R1219H	probably damaging	Het
Muc6	T	A	7: 141,226,117 (GRCm39)		probably benign	Het
Nalcn	C	T	14: 123,831,915 (GRCm39)	V120I	probably benign	Het
Nt5dc1	A	T	10: 34,275,806 (GRCm39)	C134*	probably null	Het
Obscn	A	C	11: 58,971,530 (GRCm39)	N2228K	probably damaging	Het
Or2n1c	T	A	17: 38,520,074 (GRCm39)	*313R	probably null	Het
Osbpl10	T	C	9: 115,046,062 (GRCm39)	M566T	possibly damaging	Het
Pabpc1l	G	A	2: 163,886,267 (GRCm39)	V466I	probably benign	Het
Prss27	G	T	17: 24,263,951 (GRCm39)	K212N	possibly damaging	Het
Ranbp2	T	A	10: 58,297,789 (GRCm39)	S399T	probably damaging	Het
Rgs19	A	G	2: 181,331,076 (GRCm39)	S159P	probably damaging	Het
Sh2b1	A	G	7: 126,068,465 (GRCm39)	S449P	probably damaging	Het
Slc6a18	T	A	13: 73,820,870 (GRCm39)	Y238F	probably benign	Het
Stx11	T	C	10: 12,817,224 (GRCm39)	I167V	probably benign	Het
Sucnr1	A	G	3: 59,994,371 (GRCm39)	M300V	possibly damaging	Het
Synj2	A	G	17: 6,040,628 (GRCm39)	T235A	probably damaging	Het
Ubxn2b	T	A	4: 6,214,749 (GRCm39)	I261N	probably damaging	Het
Vmn2r43	G	A	7: 8,260,512 (GRCm39)		probably benign	Het
Vmn2r45	A	G	7: 8,484,443 (GRCm39)	M454T	probably damaging	Het
Vsig2	T	A	9: 37,451,251 (GRCm39)	S51T	probably damaging	Het
Wdr41	T	C	13: 95,153,964 (GRCm39)		probably benign	Het
Wdr6	A	C	9: 108,453,752 (GRCm39)	L44V	probably damaging	Het
Zfp1001	T	C	2: 150,165,634 (GRCm39)	Y5H	probably damaging	Het
Zfp592	T	C	7: 80,674,796 (GRCm39)	Y587H	probably damaging	Het
Zfp735	A	T	11: 73,602,254 (GRCm39)	K399N	probably benign	Het

Other mutations in Pdcd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Pdcd11	APN	19	47,105,767 (GRCm39)	missense	possibly damaging	0.83
IGL00656:Pdcd11	APN	19	47,086,609 (GRCm39)	missense	probably damaging	1.00
IGL00754:Pdcd11	APN	19	47,092,221 (GRCm39)	missense	possibly damaging	0.86
IGL00907:Pdcd11	APN	19	47,096,003 (GRCm39)	missense	probably benign	0.16
IGL00987:Pdcd11	APN	19	47,102,989 (GRCm39)	intron	probably benign
IGL01346:Pdcd11	APN	19	47,098,053 (GRCm39)	missense	probably benign	0.03
IGL01529:Pdcd11	APN	19	47,098,068 (GRCm39)	missense	probably benign	0.01
IGL01670:Pdcd11	APN	19	47,094,743 (GRCm39)	missense	probably damaging	0.98
IGL01917:Pdcd11	APN	19	47,089,604 (GRCm39)	missense	possibly damaging	0.92
IGL02300:Pdcd11	APN	19	47,115,381 (GRCm39)	missense	probably benign
IGL02515:Pdcd11	APN	19	47,113,516 (GRCm39)	missense	probably damaging	1.00
IGL02886:Pdcd11	APN	19	47,102,064 (GRCm39)	missense	possibly damaging	0.95
IGL03158:Pdcd11	APN	19	47,116,500 (GRCm39)	missense	possibly damaging	0.91
R0100:Pdcd11	UTSW	19	47,091,105 (GRCm39)	missense	probably benign	0.00
R0100:Pdcd11	UTSW	19	47,091,105 (GRCm39)	missense	probably benign	0.00
R0128:Pdcd11	UTSW	19	47,108,301 (GRCm39)	missense	probably benign	0.15
R0139:Pdcd11	UTSW	19	47,099,398 (GRCm39)	critical splice acceptor site	probably null
R0227:Pdcd11	UTSW	19	47,101,876 (GRCm39)	intron	probably benign
R0316:Pdcd11	UTSW	19	47,101,611 (GRCm39)	missense	probably damaging	0.97
R0480:Pdcd11	UTSW	19	47,113,476 (GRCm39)	intron	probably benign
R0577:Pdcd11	UTSW	19	47,087,271 (GRCm39)	missense	probably benign	0.01
R0725:Pdcd11	UTSW	19	47,115,730 (GRCm39)	missense	probably benign	0.17
R1344:Pdcd11	UTSW	19	47,118,516 (GRCm39)	missense	probably damaging	1.00
R1418:Pdcd11	UTSW	19	47,118,516 (GRCm39)	missense	probably damaging	1.00
R1856:Pdcd11	UTSW	19	47,086,626 (GRCm39)	missense	probably benign	0.00
R2146:Pdcd11	UTSW	19	47,093,191 (GRCm39)	missense	probably benign	0.00
R2147:Pdcd11	UTSW	19	47,093,191 (GRCm39)	missense	probably benign	0.00
R2447:Pdcd11	UTSW	19	47,102,995 (GRCm39)	missense	probably benign	0.01
R2916:Pdcd11	UTSW	19	47,101,876 (GRCm39)	intron	probably benign
R3177:Pdcd11	UTSW	19	47,101,703 (GRCm39)	missense	probably damaging	1.00
R3277:Pdcd11	UTSW	19	47,101,703 (GRCm39)	missense	probably damaging	1.00
R3712:Pdcd11	UTSW	19	47,115,684 (GRCm39)	intron	probably benign
R4495:Pdcd11	UTSW	19	47,099,445 (GRCm39)	missense	probably benign
R4697:Pdcd11	UTSW	19	47,114,786 (GRCm39)	missense	possibly damaging	0.83
R4941:Pdcd11	UTSW	19	47,108,325 (GRCm39)	missense	probably damaging	1.00
R4953:Pdcd11	UTSW	19	47,116,404 (GRCm39)	missense	probably benign	0.04
R5048:Pdcd11	UTSW	19	47,095,554 (GRCm39)	missense	probably benign
R5049:Pdcd11	UTSW	19	47,095,554 (GRCm39)	missense	probably benign
R5103:Pdcd11	UTSW	19	47,112,893 (GRCm39)	missense	probably benign	0.00
R5107:Pdcd11	UTSW	19	47,094,893 (GRCm39)	missense	probably damaging	1.00
R5139:Pdcd11	UTSW	19	47,095,554 (GRCm39)	missense	probably benign
R5261:Pdcd11	UTSW	19	47,101,976 (GRCm39)	missense	probably benign
R5302:Pdcd11	UTSW	19	47,096,083 (GRCm39)	missense	probably damaging	1.00
R5592:Pdcd11	UTSW	19	47,091,164 (GRCm39)	missense	probably benign
R5769:Pdcd11	UTSW	19	47,091,076 (GRCm39)	missense	possibly damaging	0.92
R5791:Pdcd11	UTSW	19	47,099,430 (GRCm39)	missense	possibly damaging	0.65
R5809:Pdcd11	UTSW	19	47,082,247 (GRCm39)	missense	probably benign	0.01
R5899:Pdcd11	UTSW	19	47,093,198 (GRCm39)	missense	possibly damaging	0.93
R5901:Pdcd11	UTSW	19	47,116,771 (GRCm39)	missense	possibly damaging	0.76
R5947:Pdcd11	UTSW	19	47,117,702 (GRCm39)	missense	probably benign	0.20
R6177:Pdcd11	UTSW	19	47,108,722 (GRCm39)	missense	probably damaging	1.00
R6489:Pdcd11	UTSW	19	47,098,191 (GRCm39)	missense	probably damaging	1.00
R6575:Pdcd11	UTSW	19	47,098,117 (GRCm39)	missense	probably damaging	0.98
R6578:Pdcd11	UTSW	19	47,099,520 (GRCm39)	missense	probably benign	0.11
R7009:Pdcd11	UTSW	19	47,101,581 (GRCm39)	missense	probably benign	0.17
R7015:Pdcd11	UTSW	19	47,086,665 (GRCm39)	missense	probably benign	0.00
R7060:Pdcd11	UTSW	19	47,099,418 (GRCm39)	missense	probably benign	0.30
R7260:Pdcd11	UTSW	19	47,117,673 (GRCm39)	missense	possibly damaging	0.62
R7392:Pdcd11	UTSW	19	47,116,436 (GRCm39)	missense	probably damaging	1.00
R7601:Pdcd11	UTSW	19	47,094,808 (GRCm39)	missense	not run
R7759:Pdcd11	UTSW	19	47,101,637 (GRCm39)	missense	possibly damaging	0.88
R7760:Pdcd11	UTSW	19	47,101,637 (GRCm39)	missense	possibly damaging	0.88
R7785:Pdcd11	UTSW	19	47,093,125 (GRCm39)	missense	probably benign	0.00
R7793:Pdcd11	UTSW	19	47,094,871 (GRCm39)	missense	probably benign	0.00
R7810:Pdcd11	UTSW	19	47,086,659 (GRCm39)	missense	possibly damaging	0.81
R7863:Pdcd11	UTSW	19	47,085,403 (GRCm39)	missense	probably damaging	1.00
R7950:Pdcd11	UTSW	19	47,101,876 (GRCm39)	intron	probably benign
R8062:Pdcd11	UTSW	19	47,119,152 (GRCm39)	missense	possibly damaging	0.50
R8184:Pdcd11	UTSW	19	47,101,791 (GRCm39)	nonsense	probably null
R8278:Pdcd11	UTSW	19	47,094,736 (GRCm39)	missense	probably damaging	1.00
R8404:Pdcd11	UTSW	19	47,093,231 (GRCm39)	missense	probably damaging	0.98
R8508:Pdcd11	UTSW	19	47,108,245 (GRCm39)	missense	probably damaging	1.00
R8525:Pdcd11	UTSW	19	47,081,337 (GRCm39)	missense	possibly damaging	0.52
R8787:Pdcd11	UTSW	19	47,097,019 (GRCm39)	missense	probably damaging	1.00
R9019:Pdcd11	UTSW	19	47,101,658 (GRCm39)	missense	probably damaging	1.00
R9534:Pdcd11	UTSW	19	47,108,718 (GRCm39)	missense	probably benign	0.01
R9660:Pdcd11	UTSW	19	47,082,191 (GRCm39)	missense	possibly damaging	0.67
R9712:Pdcd11	UTSW	19	47,117,741 (GRCm39)	missense	probably damaging	0.98
RF010:Pdcd11	UTSW	19	47,101,890 (GRCm39)	frame shift	probably null
RF027:Pdcd11	UTSW	19	47,101,888 (GRCm39)	frame shift	probably null
RF039:Pdcd11	UTSW	19	47,101,894 (GRCm39)	frame shift	probably null
RF061:Pdcd11	UTSW	19	47,101,884 (GRCm39)	frame shift	probably null
X0065:Pdcd11	UTSW	19	47,085,335 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16