Incidental Mutation 'R6489:Pdcd11'
ID |
522710 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdcd11
|
Ensembl Gene |
ENSMUSG00000025047 |
Gene Name |
programmed cell death 11 |
Synonyms |
ALG-4, 1110021I22Rik |
MMRRC Submission |
044621-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R6489 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47079183-47119585 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 47098191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 826
(R826C)
|
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: R826C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072008 Gene: ENSMUSG00000025047 AA Change: R826C
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: 99.9%
- 3x: 99.6%
- 10x: 97.3%
- 20x: 90.6%
|
Validation Efficiency |
100% (61/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
T |
C |
11: 69,901,145 (GRCm39) |
T650A |
probably benign |
Het |
Alkbh7 |
T |
A |
17: 57,305,979 (GRCm39) |
S127T |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
App |
G |
T |
16: 84,853,408 (GRCm39) |
D223E |
unknown |
Het |
Arhgef2 |
C |
A |
3: 88,550,321 (GRCm39) |
S675R |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,786,480 (GRCm39) |
D258G |
probably damaging |
Het |
Calhm5 |
A |
T |
10: 33,968,502 (GRCm39) |
W184R |
probably damaging |
Het |
Cbr1b |
A |
T |
16: 93,427,286 (GRCm39) |
|
probably null |
Het |
Ckap2l |
T |
C |
2: 129,111,034 (GRCm39) |
D721G |
possibly damaging |
Het |
Cog8 |
T |
C |
8: 107,776,933 (GRCm39) |
T481A |
probably benign |
Het |
Colec10 |
C |
A |
15: 54,325,609 (GRCm39) |
|
probably null |
Het |
Cplx3 |
A |
T |
9: 57,521,009 (GRCm39) |
|
probably null |
Het |
Dhx9 |
T |
C |
1: 153,332,389 (GRCm39) |
|
probably benign |
Het |
Dock1 |
T |
C |
7: 134,592,270 (GRCm39) |
M935T |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,604,420 (GRCm39) |
N962K |
possibly damaging |
Het |
Dym |
T |
C |
18: 75,213,297 (GRCm39) |
V173A |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,395,131 (GRCm39) |
Y583C |
probably damaging |
Het |
Flnb |
G |
A |
14: 7,867,551 (GRCm38) |
V103M |
probably damaging |
Het |
Fzd1 |
T |
A |
5: 4,807,336 (GRCm39) |
Q82L |
probably benign |
Het |
Gabrr1 |
A |
G |
4: 33,162,855 (GRCm39) |
I474V |
probably benign |
Het |
Galnt11 |
G |
T |
5: 25,469,964 (GRCm39) |
W521L |
probably damaging |
Het |
Glb1l3 |
A |
G |
9: 26,738,127 (GRCm39) |
V420A |
probably benign |
Het |
H1f7 |
A |
T |
15: 98,154,888 (GRCm39) |
L87* |
probably null |
Het |
Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
Ihh |
T |
A |
1: 74,985,670 (GRCm39) |
T272S |
probably damaging |
Het |
Il27ra |
T |
C |
8: 84,758,179 (GRCm39) |
M524V |
probably benign |
Het |
Mdp1 |
C |
A |
14: 55,897,848 (GRCm39) |
|
probably benign |
Het |
Med12l |
A |
G |
3: 59,164,828 (GRCm39) |
K1436R |
probably damaging |
Het |
Megf10 |
C |
T |
18: 57,424,879 (GRCm39) |
S1006F |
probably benign |
Het |
Miga1 |
A |
T |
3: 151,984,645 (GRCm39) |
I426N |
probably damaging |
Het |
Mtmr6 |
C |
T |
14: 60,537,963 (GRCm39) |
T654I |
possibly damaging |
Het |
Nbeal1 |
A |
G |
1: 60,370,101 (GRCm39) |
S2673G |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 95,028,716 (GRCm39) |
H193Q |
probably benign |
Het |
Or1e25 |
T |
A |
11: 73,494,265 (GRCm39) |
N286K |
probably damaging |
Het |
Or4f7 |
A |
C |
2: 111,644,405 (GRCm39) |
L222W |
probably damaging |
Het |
Or52ae9 |
T |
C |
7: 103,389,875 (GRCm39) |
N191D |
probably benign |
Het |
Pde4dip |
G |
A |
3: 97,662,907 (GRCm39) |
R521* |
probably null |
Het |
Phf2 |
T |
C |
13: 48,979,658 (GRCm39) |
S158G |
unknown |
Het |
Pla2g15 |
A |
G |
8: 106,889,826 (GRCm39) |
E366G |
probably benign |
Het |
Plekhm2 |
A |
T |
4: 141,359,344 (GRCm39) |
H494Q |
probably damaging |
Het |
Prpsap2 |
A |
T |
11: 61,639,890 (GRCm39) |
M87K |
probably damaging |
Het |
Rbm19 |
T |
G |
5: 120,258,195 (GRCm39) |
S137A |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,848,893 (GRCm39) |
I363L |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,896 (GRCm39) |
T122A |
probably benign |
Het |
Scn4a |
G |
C |
11: 106,240,006 (GRCm39) |
D70E |
probably benign |
Het |
Slc12a3 |
T |
A |
8: 95,061,632 (GRCm39) |
V293D |
possibly damaging |
Het |
Slc6a7 |
T |
C |
18: 61,140,615 (GRCm39) |
Y139C |
probably damaging |
Het |
Slco2b1 |
A |
T |
7: 99,339,762 (GRCm39) |
C9* |
probably null |
Het |
Slitrk1 |
A |
T |
14: 109,148,735 (GRCm39) |
S659T |
possibly damaging |
Het |
Son |
T |
G |
16: 91,452,044 (GRCm39) |
S264A |
possibly damaging |
Het |
Svep1 |
C |
A |
4: 58,100,066 (GRCm39) |
G1326V |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,922,918 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,645,062 (GRCm39) |
V11185A |
probably damaging |
Het |
Ubap2 |
T |
C |
4: 41,203,574 (GRCm39) |
|
probably null |
Het |
Utp15 |
G |
T |
13: 98,387,117 (GRCm39) |
F434L |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vsnl1 |
T |
G |
12: 11,382,219 (GRCm39) |
|
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zbtb34 |
A |
C |
2: 33,301,558 (GRCm39) |
S328A |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,346,637 (GRCm39) |
I1672T |
possibly 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 |
R6177:Pdcd11
|
UTSW |
19 |
47,108,722 (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'- TGACAAGTTCGTAACCACTCC -3'
(R):5'- TCATTGGGGCATACAAGGGG -3'
Sequencing Primer
(F):5'- CAGTCGTTGCTAAGGTGA -3'
(R):5'- GCCTACCTAGCACCCTTGATGG -3'
|
Posted On |
2018-06-06 |