Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Pdcd11'

730297

Institutional Source

Beutler Lab

Gene Symbol

Pdcd11

Ensembl Gene

ENSMUSG00000025047

Gene Name

programmed cell death 11

Synonyms

ALG-4, 1110021I22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47090766-47131143 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47129302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1697 (K1697E)

Ref Sequence

ENSEMBL: ENSMUSP00000072008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035822] [ENSMUST00000072141] [ENSMUST00000140512]

AlphaFold

Q6NS46

Predicted Effect

probably benign
Transcript: ENSMUST00000035822

SMART Domains

Protein: ENSMUSP00000047278
Gene: ENSMUSG00000033033

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	6	256	2.3e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000072141
AA Change: K1697E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047
AA Change: K1697E

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	Het

Other mutations in Pdcd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Pdcd11	APN	19	47117328	missense	possibly damaging	0.83
IGL00656:Pdcd11	APN	19	47098170	missense	probably damaging	1.00
IGL00754:Pdcd11	APN	19	47103782	missense	possibly damaging	0.86
IGL00907:Pdcd11	APN	19	47107564	missense	probably benign	0.16
IGL00987:Pdcd11	APN	19	47114550	intron	probably benign
IGL01346:Pdcd11	APN	19	47109614	missense	probably benign	0.03
IGL01529:Pdcd11	APN	19	47109629	missense	probably benign	0.01
IGL01670:Pdcd11	APN	19	47106304	missense	probably damaging	0.98
IGL01917:Pdcd11	APN	19	47101165	missense	possibly damaging	0.92
IGL02096:Pdcd11	APN	19	47106421	missense	probably benign	0.10
IGL02300:Pdcd11	APN	19	47126942	missense	probably benign
IGL02515:Pdcd11	APN	19	47125077	missense	probably damaging	1.00
IGL02886:Pdcd11	APN	19	47113625	missense	possibly damaging	0.95
IGL03158:Pdcd11	APN	19	47128061	missense	possibly damaging	0.91
R0100:Pdcd11	UTSW	19	47102666	missense	probably benign	0.00
R0100:Pdcd11	UTSW	19	47102666	missense	probably benign	0.00
R0128:Pdcd11	UTSW	19	47119862	missense	probably benign	0.15
R0139:Pdcd11	UTSW	19	47110959	critical splice acceptor site	probably null
R0227:Pdcd11	UTSW	19	47113437	intron	probably benign
R0316:Pdcd11	UTSW	19	47113172	missense	probably damaging	0.97
R0480:Pdcd11	UTSW	19	47125037	intron	probably benign
R0577:Pdcd11	UTSW	19	47098832	missense	probably benign	0.01
R0725:Pdcd11	UTSW	19	47127291	missense	probably benign	0.17
R1344:Pdcd11	UTSW	19	47130077	missense	probably damaging	1.00
R1418:Pdcd11	UTSW	19	47130077	missense	probably damaging	1.00
R1856:Pdcd11	UTSW	19	47098187	missense	probably benign	0.00
R2146:Pdcd11	UTSW	19	47104752	missense	probably benign	0.00
R2147:Pdcd11	UTSW	19	47104752	missense	probably benign	0.00
R2447:Pdcd11	UTSW	19	47114556	missense	probably benign	0.01
R2916:Pdcd11	UTSW	19	47113437	intron	probably benign
R3177:Pdcd11	UTSW	19	47113264	missense	probably damaging	1.00
R3277:Pdcd11	UTSW	19	47113264	missense	probably damaging	1.00
R3712:Pdcd11	UTSW	19	47127245	intron	probably benign
R4495:Pdcd11	UTSW	19	47111006	missense	probably benign
R4697:Pdcd11	UTSW	19	47126347	missense	possibly damaging	0.83
R4941:Pdcd11	UTSW	19	47119886	missense	probably damaging	1.00
R4953:Pdcd11	UTSW	19	47127965	missense	probably benign	0.04
R5048:Pdcd11	UTSW	19	47107115	missense	probably benign
R5049:Pdcd11	UTSW	19	47107115	missense	probably benign
R5103:Pdcd11	UTSW	19	47124454	missense	probably benign	0.00
R5107:Pdcd11	UTSW	19	47106454	missense	probably damaging	1.00
R5139:Pdcd11	UTSW	19	47107115	missense	probably benign
R5261:Pdcd11	UTSW	19	47113537	missense	probably benign
R5302:Pdcd11	UTSW	19	47107644	missense	probably damaging	1.00
R5592:Pdcd11	UTSW	19	47102725	missense	probably benign
R5769:Pdcd11	UTSW	19	47102637	missense	possibly damaging	0.92
R5791:Pdcd11	UTSW	19	47110991	missense	possibly damaging	0.65
R5809:Pdcd11	UTSW	19	47093808	missense	probably benign	0.01
R5899:Pdcd11	UTSW	19	47104759	missense	possibly damaging	0.93
R5901:Pdcd11	UTSW	19	47128332	missense	possibly damaging	0.76
R5947:Pdcd11	UTSW	19	47129263	missense	probably benign	0.20
R6177:Pdcd11	UTSW	19	47120283	missense	probably damaging	1.00
R6489:Pdcd11	UTSW	19	47109752	missense	probably damaging	1.00
R6575:Pdcd11	UTSW	19	47109678	missense	probably damaging	0.98
R6578:Pdcd11	UTSW	19	47111081	missense	probably benign	0.11
R7009:Pdcd11	UTSW	19	47113142	missense	probably benign	0.17
R7015:Pdcd11	UTSW	19	47098226	missense	probably benign	0.00
R7060:Pdcd11	UTSW	19	47110979	missense	probably benign	0.30
R7260:Pdcd11	UTSW	19	47129234	missense	possibly damaging	0.62
R7392:Pdcd11	UTSW	19	47127997	missense	probably damaging	1.00
R7601:Pdcd11	UTSW	19	47106369	missense	not run
R7759:Pdcd11	UTSW	19	47113198	missense	possibly damaging	0.88
R7760:Pdcd11	UTSW	19	47113198	missense	possibly damaging	0.88
R7785:Pdcd11	UTSW	19	47104686	missense	probably benign	0.00
R7793:Pdcd11	UTSW	19	47106432	missense	probably benign	0.00
R7810:Pdcd11	UTSW	19	47098220	missense	possibly damaging	0.81
R7863:Pdcd11	UTSW	19	47096964	missense	probably damaging	1.00
R7950:Pdcd11	UTSW	19	47113437	intron	probably benign
R8062:Pdcd11	UTSW	19	47130713	missense	possibly damaging	0.50
R8184:Pdcd11	UTSW	19	47113352	nonsense	probably null
R8278:Pdcd11	UTSW	19	47106297	missense	probably damaging	1.00
R8404:Pdcd11	UTSW	19	47104792	missense	probably damaging	0.98
R8508:Pdcd11	UTSW	19	47119806	missense	probably damaging	1.00
R8525:Pdcd11	UTSW	19	47092898	missense	possibly damaging	0.52
R8787:Pdcd11	UTSW	19	47108580	missense	probably damaging	1.00
R9019:Pdcd11	UTSW	19	47113219	missense	probably damaging	1.00
R9534:Pdcd11	UTSW	19	47120279	missense	probably benign	0.01
R9660:Pdcd11	UTSW	19	47093752	missense	possibly damaging	0.67
RF010:Pdcd11	UTSW	19	47113451	frame shift	probably null
RF027:Pdcd11	UTSW	19	47113449	frame shift	probably null
RF039:Pdcd11	UTSW	19	47113455	frame shift	probably null
RF061:Pdcd11	UTSW	19	47113445	frame shift	probably null
X0065:Pdcd11	UTSW	19	47096896	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACTCGTGTTCTACCCACC -3'
(R):5'- GAGACTGGGAAGCTCATCAG -3'

Sequencing Primer
(F):5'- GTTCTACCCACCCCCTCAGAG -3'
(R):5'- GGAGCTTCCCTAGTGATCCC -3'

Posted On

2022-10-06