Mutagenetix > Incidental Mutation

Incidental Mutation 'R7950:Pdcd11'

649534

Institutional Source

Beutler Lab

Gene Symbol

Pdcd11

Ensembl Gene

ENSMUSG00000025047

Gene Name

programmed cell death 11

Synonyms

ALG-4, 1110021I22Rik

MMRRC Submission

045995-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7950 (G1)

Quality Score

105.467

Status

Not validated

Chromosome

Chromosomal Location

47079183-47119585 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

AGAGGAGGAGGAGGAGGAGGAGGAG to AGAGGAGGAGGAGGAGGAGGAG at 47101876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121661 (fasta)

Gene Model

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

AlphaFold

Q6NS46

Predicted Effect

probably benign
Transcript: ENSMUST00000072141

SMART Domains

Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	G	A	17: 43,762,048 (GRCm39)	V1248M	probably damaging	Het
Alb	T	C	5: 90,620,323 (GRCm39)	S478P	probably damaging	Het
Arhgap17	A	G	7: 122,886,039 (GRCm39)	S698P	probably benign	Het
Arhgef5	A	G	6: 43,250,859 (GRCm39)	T537A	possibly damaging	Het
Arl6	A	T	16: 59,439,094 (GRCm39)		probably null	Het
Atp13a4	A	T	16: 29,268,735 (GRCm39)	W540R		Het
Birc6	A	T	17: 74,900,095 (GRCm39)	D1091V	probably damaging	Het
Bnc1	A	G	7: 81,623,250 (GRCm39)	V659A	probably benign	Het
C130074G19Rik	T	C	1: 184,606,571 (GRCm39)		probably null	Het
C1ql4	T	A	15: 98,982,693 (GRCm39)	H220L	probably benign	Het
Cacna1s	A	G	1: 136,028,363 (GRCm39)	N1147S	probably benign	Het
Cc2d2a	T	C	5: 43,852,638 (GRCm39)		probably null	Het
Ccl1	T	A	11: 82,070,519 (GRCm39)	I18L	probably benign	Het
Cfap410	C	T	10: 77,815,601 (GRCm39)	T31I	probably damaging	Het
Ecel1	A	T	1: 87,075,991 (GRCm39)	Y729N	probably damaging	Het
Epha4	T	A	1: 77,483,833 (GRCm39)	I59F	probably damaging	Het
Filip1l	A	G	16: 57,390,074 (GRCm39)	K221E	probably damaging	Het
Flnc	A	G	6: 29,456,381 (GRCm39)	E2193G	possibly damaging	Het
Galnt10	C	G	11: 57,674,549 (GRCm39)	P513A	probably damaging	Het
Gm5624	A	G	14: 44,798,190 (GRCm39)	Y139H		Het
Golgb1	A	C	16: 36,735,786 (GRCm39)	I1719L	probably benign	Het
Hsf1	T	C	15: 76,382,393 (GRCm39)	S255P	probably benign	Het
Ighv2-2	T	C	12: 113,551,914 (GRCm39)	D108G	probably damaging	Het
Iho1	T	C	9: 108,282,870 (GRCm39)	T273A	probably benign	Het
Kbtbd3	C	T	9: 4,316,878 (GRCm39)	Q10*	probably null	Het
Kcnh2	C	T	5: 24,538,034 (GRCm39)	V110M	probably benign	Het
Magi3	A	C	3: 103,924,005 (GRCm39)	L1112W	probably damaging	Het
Malrd1	T	A	2: 16,132,879 (GRCm39)	D1933E	unknown	Het
Mki67	G	A	7: 135,301,453 (GRCm39)	R1194*	probably null	Het
Nap1l1	T	C	10: 111,328,769 (GRCm39)	Y233H	probably damaging	Het
Napsa	A	G	7: 44,234,758 (GRCm39)	I298V	probably benign	Het
Nkx6-1	A	T	5: 101,811,465 (GRCm39)	S212R	probably damaging	Het
Nlrc4	A	T	17: 74,752,610 (GRCm39)	I591N	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,431 (GRCm39)	I35T	possibly damaging	Het
Orc2	T	C	1: 58,506,827 (GRCm39)	D503G	possibly damaging	Het
Osbp	T	A	19: 11,955,612 (GRCm39)	S343T	probably benign	Het
Pcdha6	T	G	18: 37,102,479 (GRCm39)	D557E	probably damaging	Het
Ppdpf	A	G	2: 180,829,650 (GRCm39)	Y35C	probably benign	Het
Scrn2	T	A	11: 96,921,755 (GRCm39)	L75Q	probably damaging	Het
Scube3	G	A	17: 28,390,200 (GRCm39)	V955I	probably benign	Het
Slc1a1	T	C	19: 28,889,161 (GRCm39)	V478A	probably benign	Het
Slc4a4	A	G	5: 89,206,137 (GRCm39)		probably null	Het
Srrm2	T	C	17: 24,027,084 (GRCm39)	L96P	unknown	Het
Strn	A	T	17: 78,977,852 (GRCm39)	L175Q		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
IGL02096:Pdcd11	APN	19	47,094,860 (GRCm39)	missense	probably benign	0.10
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAAGAGTCCTTTGCCGTG -3'
(R):5'- CATCATCTAAGATGCGGGAGGC -3'

Sequencing Primer
(F):5'- TGGAGACTGGCCACCTTGTG -3'
(R):5'- GCGGGAGGCATGGATAC -3'

Posted On

2020-09-15