Incidental Mutation 'R6177:Pdcd11'
ID |
487854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdcd11
|
Ensembl Gene |
ENSMUSG00000025047 |
Gene Name |
programmed cell death 11 |
Synonyms |
ALG-4, 1110021I22Rik |
MMRRC Submission |
044319-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R6177 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47079183-47119585 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 47108722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 1246
(G1246V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072141]
[ENSMUST00000140512]
|
AlphaFold |
Q6NS46 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072141
AA Change: G1246V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072008 Gene: ENSMUSG00000025047 AA Change: G1246V
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 |
0.8811 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
Validation Efficiency |
100% (65/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
T |
C |
15: 91,074,896 (GRCm39) |
I306V |
probably damaging |
Het |
Actrt3 |
A |
T |
3: 30,652,316 (GRCm39) |
Y259* |
probably null |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Ano1 |
T |
A |
7: 144,232,478 (GRCm39) |
M25L |
possibly damaging |
Het |
Apol10b |
A |
T |
15: 77,469,987 (GRCm39) |
D63E |
possibly damaging |
Het |
Atp6v1c1 |
C |
A |
15: 38,674,172 (GRCm39) |
S55* |
probably null |
Het |
C1s2 |
T |
G |
6: 124,606,960 (GRCm39) |
D296A |
probably damaging |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Cadm4 |
G |
A |
7: 24,202,186 (GRCm39) |
V342M |
possibly damaging |
Het |
Cat |
T |
C |
2: 103,303,420 (GRCm39) |
E119G |
probably damaging |
Het |
Cavin2 |
G |
T |
1: 51,328,654 (GRCm39) |
S37I |
probably damaging |
Het |
Cdhr18 |
T |
C |
14: 13,868,002 (GRCm38) |
D229G |
probably benign |
Het |
Cdk5rap2 |
G |
A |
4: 70,199,719 (GRCm39) |
R802C |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,751,897 (GRCm39) |
|
probably benign |
Het |
Dhx57 |
T |
C |
17: 80,580,395 (GRCm39) |
N519S |
possibly damaging |
Het |
Dpep2 |
T |
C |
8: 106,712,831 (GRCm39) |
D260G |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,828,159 (GRCm39) |
|
probably null |
Het |
Epb41l4a |
A |
T |
18: 33,931,868 (GRCm39) |
|
probably null |
Het |
Esp1 |
T |
C |
17: 41,039,723 (GRCm39) |
S3P |
possibly damaging |
Het |
Fam111a |
A |
G |
19: 12,564,746 (GRCm39) |
Y165C |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,059,031 (GRCm39) |
T497A |
probably benign |
Het |
Gstcd |
T |
C |
3: 132,787,834 (GRCm39) |
D288G |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,310,118 (GRCm39) |
L3264* |
probably null |
Het |
Hyal4 |
T |
A |
6: 24,766,089 (GRCm39) |
L481* |
probably null |
Het |
Ighv2-7 |
A |
G |
12: 113,771,055 (GRCm39) |
Y77H |
possibly damaging |
Het |
Jdp2 |
G |
T |
12: 85,685,614 (GRCm39) |
R125L |
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,013,748 (GRCm39) |
|
probably null |
Het |
Lrp2 |
AC |
A |
2: 69,340,763 (GRCm39) |
|
probably null |
Het |
Marveld2 |
C |
T |
13: 100,733,886 (GRCm39) |
D250N |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,242,662 (GRCm39) |
S53P |
probably damaging |
Het |
Ms4a20 |
A |
G |
19: 11,083,114 (GRCm39) |
I102T |
possibly damaging |
Het |
Myo3b |
T |
C |
2: 70,143,707 (GRCm39) |
V1041A |
probably benign |
Het |
Nkpd1 |
T |
A |
7: 19,257,009 (GRCm39) |
F113I |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,923,490 (GRCm39) |
S6470P |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4a73 |
T |
C |
2: 89,420,661 (GRCm39) |
D266G |
possibly damaging |
Het |
Or9g4b |
C |
T |
2: 85,616,004 (GRCm39) |
R50C |
probably damaging |
Het |
Phc3 |
A |
T |
3: 30,996,714 (GRCm39) |
S219T |
probably damaging |
Het |
Plxnb1 |
C |
T |
9: 108,931,993 (GRCm39) |
|
probably null |
Het |
Polh |
T |
C |
17: 46,495,670 (GRCm39) |
D276G |
possibly damaging |
Het |
Polq |
T |
A |
16: 36,892,071 (GRCm39) |
V1991E |
probably damaging |
Het |
Polr2g |
G |
A |
19: 8,771,541 (GRCm39) |
R144C |
probably damaging |
Het |
Pramel16 |
G |
A |
4: 143,675,576 (GRCm39) |
H417Y |
possibly damaging |
Het |
Prex2 |
A |
C |
1: 11,207,001 (GRCm39) |
T520P |
possibly damaging |
Het |
Psg21 |
T |
A |
7: 18,386,279 (GRCm39) |
T236S |
possibly damaging |
Het |
Ptpru |
A |
T |
4: 131,520,836 (GRCm39) |
S761R |
probably benign |
Het |
Rapgef6 |
G |
A |
11: 54,510,842 (GRCm39) |
R253Q |
probably damaging |
Het |
Rc3h2 |
C |
T |
2: 37,279,658 (GRCm39) |
V524I |
probably benign |
Het |
Sde2 |
T |
C |
1: 180,685,784 (GRCm39) |
V112A |
probably damaging |
Het |
Septin7 |
T |
C |
9: 25,205,100 (GRCm39) |
|
probably null |
Het |
Spef2 |
A |
G |
15: 9,727,618 (GRCm39) |
V155A |
possibly damaging |
Het |
St7 |
T |
C |
6: 17,819,333 (GRCm39) |
|
probably null |
Het |
Tmcc3 |
A |
T |
10: 94,418,249 (GRCm39) |
Y339F |
probably damaging |
Het |
Tmed6 |
T |
C |
8: 107,792,083 (GRCm39) |
E54G |
probably damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,889,624 (GRCm39) |
|
probably benign |
Het |
Trim43c |
T |
C |
9: 88,722,600 (GRCm39) |
L82P |
possibly damaging |
Het |
Txndc2 |
T |
C |
17: 65,945,466 (GRCm39) |
D237G |
probably benign |
Het |
Vmn1r91 |
T |
A |
7: 19,835,404 (GRCm39) |
C108S |
possibly damaging |
Het |
Vtn |
A |
T |
11: 78,390,836 (GRCm39) |
D165V |
probably damaging |
Het |
Wdr3 |
A |
T |
3: 100,068,468 (GRCm39) |
S13R |
probably damaging |
Het |
Zdhhc16 |
A |
G |
19: 41,926,198 (GRCm39) |
Y31C |
probably benign |
Het |
Zfp39 |
A |
T |
11: 58,781,887 (GRCm39) |
W292R |
probably benign |
Het |
Zfp612 |
A |
T |
8: 110,816,606 (GRCm39) |
L604F |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTGTGTGACTCTATCGCTC -3'
(R):5'- ACTTAGGCAAAGAAGAACTCTCTGG -3'
Sequencing Primer
(F):5'- GTGTGACTCTATCGCTCTCTTAGG -3'
(R):5'- GAAGAACTCTCTGGCTCACCTG -3'
|
Posted On |
2017-10-10 |