Incidental Mutation 'R7759:Pdcd11'
| ID |
597772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdcd11
|
| Ensembl Gene |
ENSMUSG00000025047 |
| Gene Name |
programmed cell death 11 |
| Synonyms |
ALG-4, 1110021I22Rik |
| MMRRC Submission |
045815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7759 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47079183-47119585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47101637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 941
(V941M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072141]
[ENSMUST00000140512]
|
| AlphaFold |
Q6NS46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072141
AA Change: V941M
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047
AA Change: V941M
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
T |
16: 4,682,514 (GRCm39) |
G215V |
probably benign |
Het |
| Adamts1 |
C |
A |
16: 85,594,683 (GRCm39) |
G652C |
probably damaging |
Het |
| Adck1 |
G |
A |
12: 88,368,887 (GRCm39) |
A122T |
possibly damaging |
Het |
| Akap1 |
A |
C |
11: 88,736,659 (GRCm39) |
M34R |
probably damaging |
Het |
| Apc2 |
C |
T |
10: 80,147,030 (GRCm39) |
R695C |
probably damaging |
Het |
| Apon |
T |
A |
10: 128,090,384 (GRCm39) |
W21R |
probably benign |
Het |
| Arhgef16 |
T |
C |
4: 154,371,432 (GRCm39) |
T254A |
probably benign |
Het |
| Arid5b |
T |
A |
10: 67,933,632 (GRCm39) |
S757C |
probably damaging |
Het |
| B020004C17Rik |
A |
C |
14: 57,254,242 (GRCm39) |
I122L |
possibly damaging |
Het |
| Bckdhb |
T |
G |
9: 83,892,379 (GRCm39) |
V270G |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,821,145 (GRCm39) |
Y1146H |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,423,668 (GRCm39) |
D1214G |
possibly damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,084,912 (GRCm39) |
V636A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,704,178 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,561,569 (GRCm39) |
S1336P |
|
Het |
| Cubn |
A |
G |
2: 13,352,961 (GRCm39) |
Y1926H |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
| Eme1 |
A |
T |
11: 94,536,666 (GRCm39) |
Y504* |
probably null |
Het |
| Enah |
G |
A |
1: 181,746,009 (GRCm39) |
A687V |
unknown |
Het |
| Endou |
A |
C |
15: 97,611,747 (GRCm39) |
V339G |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,591,539 (GRCm39) |
R232H |
probably benign |
Het |
| Ephx2 |
G |
A |
14: 66,326,968 (GRCm39) |
A409V |
possibly damaging |
Het |
| Esd |
T |
A |
14: 74,983,007 (GRCm39) |
C219* |
probably null |
Het |
| Fscb |
A |
T |
12: 64,520,866 (GRCm39) |
M200K |
probably benign |
Het |
| Gabra6 |
A |
T |
11: 42,208,508 (GRCm39) |
V108D |
probably damaging |
Het |
| Gm11555 |
A |
G |
11: 99,540,568 (GRCm39) |
V137A |
unknown |
Het |
| Gpld1 |
A |
G |
13: 25,146,383 (GRCm39) |
D209G |
probably damaging |
Het |
| Ikzf1 |
T |
A |
11: 11,719,256 (GRCm39) |
I408N |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 115,894,536 (GRCm39) |
R1364G |
possibly damaging |
Het |
| Kif26b |
A |
C |
1: 178,506,509 (GRCm39) |
K195T |
probably damaging |
Het |
| Mfsd12 |
T |
C |
10: 81,199,427 (GRCm39) |
W440R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,718,146 (GRCm39) |
E373K |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,058,317 (GRCm39) |
V1293E |
probably damaging |
Het |
| Myof |
C |
A |
19: 37,928,346 (GRCm39) |
A1068S |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,412,672 (GRCm39) |
D720G |
probably damaging |
Het |
| Nova2 |
G |
T |
7: 18,692,176 (GRCm39) |
G435V |
|
Het |
| Oacyl |
T |
A |
18: 65,843,631 (GRCm39) |
D109E |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,463 (GRCm39) |
M163L |
probably benign |
Het |
| Or56a4 |
G |
A |
7: 104,806,232 (GRCm39) |
S219F |
probably damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,288,358 (GRCm39) |
R1014L |
probably damaging |
Het |
| Ppm1h |
T |
G |
10: 122,740,018 (GRCm39) |
D364E |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,225,104 (GRCm39) |
A298S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,107 (GRCm39) |
N2002D |
probably benign |
Het |
| Sall1 |
C |
T |
8: 89,768,979 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,477,198 (GRCm39) |
W728* |
probably null |
Het |
| Setdb2 |
G |
T |
14: 59,656,813 (GRCm39) |
T168K |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,276 (GRCm39) |
I97V |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,361,325 (GRCm39) |
M498K |
probably benign |
Het |
| Smpd4 |
A |
T |
16: 17,456,497 (GRCm39) |
E362D |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,940,529 (GRCm39) |
K881* |
probably null |
Het |
| Strn4 |
A |
G |
7: 16,564,309 (GRCm39) |
E313G |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,890 (GRCm39) |
N306I |
possibly damaging |
Het |
| Tdrd6 |
G |
T |
17: 43,935,730 (GRCm39) |
R1773S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,897,321 (GRCm39) |
E729G |
probably damaging |
Het |
| Tnfrsf23 |
G |
A |
7: 143,224,572 (GRCm39) |
T135I |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,438,276 (GRCm39) |
M218T |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,031,554 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
G |
A |
17: 47,296,974 (GRCm39) |
R269C |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,185,806 (GRCm39) |
M1459K |
possibly damaging |
Het |
| Upf1 |
A |
G |
8: 70,786,730 (GRCm39) |
V929A |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,321,763 (GRCm39) |
S24P |
probably benign |
Het |
| Vmn1r214 |
G |
A |
13: 23,218,631 (GRCm39) |
E42K |
not run |
Het |
| Vmn1r83 |
G |
T |
7: 12,055,360 (GRCm39) |
D232E |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,800,339 (GRCm39) |
V668I |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,463,991 (GRCm39) |
I281T |
probably damaging |
Het |
| Ywhag |
A |
T |
5: 135,940,043 (GRCm39) |
Y184N |
probably damaging |
Het |
| Zdbf2 |
A |
C |
1: 63,347,535 (GRCm39) |
E1971D |
possibly damaging |
Het |
| Zfp568 |
G |
A |
7: 29,722,839 (GRCm39) |
A595T |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,117,083 (GRCm39) |
D248G |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAATCTGTAGAAGTATTCTTTGGG -3'
(R):5'- GAACTGGCATCCTGGTCCTC -3'
Sequencing Primer
(F):5'- AAGTATTCTTTGGGTAAGGTGTACAG -3'
(R):5'- GGCATCCTGGTCCTCTTAGAAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation