Incidental Mutation 'R5049:Pdcd11'
ID |
394567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdcd11
|
Ensembl Gene |
ENSMUSG00000025047 |
Gene Name |
programmed cell death 11 |
Synonyms |
ALG-4, 1110021I22Rik |
MMRRC Submission |
042639-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R5049 (G1)
|
Quality Score |
93 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47079183-47119585 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 47095554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 625
(S625R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072141]
[ENSMUST00000140512]
|
AlphaFold |
Q6NS46 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072141
AA Change: S625R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000072008 Gene: ENSMUSG00000025047 AA Change: S625R
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.8%
- 20x: 90.4%
|
Validation Efficiency |
97% (89/92) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,321,698 (GRCm39) |
S76P |
probably damaging |
Het |
Acot8 |
A |
G |
2: 164,641,610 (GRCm39) |
|
probably benign |
Het |
Angptl7 |
A |
G |
4: 148,582,468 (GRCm39) |
F143L |
probably benign |
Het |
Atxn7l1 |
A |
G |
12: 33,408,686 (GRCm39) |
T283A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,094,655 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,095,539 (GRCm39) |
M1016T |
probably damaging |
Het |
Brd3 |
G |
T |
2: 27,340,589 (GRCm39) |
|
probably benign |
Het |
C130026L21Rik |
T |
A |
5: 111,729,702 (GRCm39) |
|
noncoding transcript |
Het |
Cbr4 |
T |
G |
8: 61,948,238 (GRCm39) |
|
probably null |
Het |
Ccl19 |
A |
G |
4: 42,756,268 (GRCm39) |
|
probably null |
Het |
Ccl2 |
G |
T |
11: 81,927,333 (GRCm39) |
C34F |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,456,852 (GRCm39) |
T873S |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,338,992 (GRCm39) |
N3118S |
probably damaging |
Het |
Elapor2 |
A |
G |
5: 9,478,488 (GRCm39) |
T451A |
probably damaging |
Het |
Epb41l1 |
C |
A |
2: 156,366,859 (GRCm39) |
P564Q |
possibly damaging |
Het |
Extl3 |
A |
T |
14: 65,313,481 (GRCm39) |
M567K |
probably benign |
Het |
Fhip2a |
T |
C |
19: 57,374,737 (GRCm39) |
I704T |
possibly damaging |
Het |
Foxf2 |
T |
C |
13: 31,811,158 (GRCm39) |
S366P |
probably benign |
Het |
Gamt |
T |
A |
10: 80,094,788 (GRCm39) |
T186S |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,744,730 (GRCm39) |
M1642K |
probably damaging |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Golga1 |
A |
T |
2: 38,937,747 (GRCm39) |
M115K |
probably damaging |
Het |
Hapstr1 |
T |
A |
16: 8,661,073 (GRCm39) |
D183E |
probably damaging |
Het |
Herc3 |
A |
G |
6: 58,871,524 (GRCm39) |
|
probably null |
Het |
Hes2 |
C |
A |
4: 152,244,331 (GRCm39) |
L39I |
possibly damaging |
Het |
Hopx |
C |
A |
5: 77,242,899 (GRCm39) |
|
probably benign |
Het |
Idi1 |
C |
T |
13: 8,938,078 (GRCm39) |
P175S |
probably damaging |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,481 (GRCm39) |
C325* |
probably null |
Het |
Ighv7-3 |
T |
C |
12: 114,116,953 (GRCm39) |
I70V |
probably benign |
Het |
Kcnq3 |
T |
C |
15: 66,157,746 (GRCm39) |
T110A |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,075,708 (GRCm39) |
D451G |
possibly damaging |
Het |
Lama3 |
A |
G |
18: 12,715,668 (GRCm39) |
E1708G |
probably benign |
Het |
Lrriq4 |
T |
A |
3: 30,705,086 (GRCm39) |
D371E |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,810,649 (GRCm39) |
V773E |
probably damaging |
Het |
Map4 |
T |
A |
9: 109,908,882 (GRCm39) |
L23* |
probably null |
Het |
Mapkbp1 |
G |
T |
2: 119,845,982 (GRCm39) |
|
probably benign |
Het |
Mrpl30 |
A |
T |
1: 37,936,791 (GRCm39) |
D52V |
possibly damaging |
Het |
Or10ag57 |
A |
T |
2: 87,219,002 (GRCm39) |
T318S |
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,706,259 (GRCm39) |
L103Q |
probably damaging |
Het |
Pard3b |
T |
A |
1: 62,200,320 (GRCm39) |
H286Q |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,873,188 (GRCm39) |
K1144R |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,321,012 (GRCm39) |
S22P |
probably benign |
Het |
Prss32 |
A |
T |
17: 24,078,221 (GRCm39) |
E302D |
possibly damaging |
Het |
Prss45 |
A |
G |
9: 110,669,538 (GRCm39) |
K205E |
probably damaging |
Het |
Puf60 |
T |
A |
15: 75,942,323 (GRCm39) |
I500F |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,470,516 (GRCm39) |
I4623N |
probably damaging |
Het |
Sh3bp5l |
T |
A |
11: 58,228,950 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
T |
G |
17: 85,340,273 (GRCm39) |
Y232D |
probably damaging |
Het |
Slc8a3 |
A |
G |
12: 81,260,906 (GRCm39) |
Y608H |
probably damaging |
Het |
Socs7 |
G |
T |
11: 97,269,469 (GRCm39) |
R429L |
probably benign |
Het |
Sorcs3 |
C |
A |
19: 48,748,390 (GRCm39) |
N786K |
possibly damaging |
Het |
Sp4 |
A |
T |
12: 118,218,207 (GRCm39) |
M680K |
probably benign |
Het |
Tas2r131 |
T |
C |
6: 132,934,540 (GRCm39) |
T90A |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,624,000 (GRCm39) |
H1983Q |
probably benign |
Het |
Tbx21 |
T |
C |
11: 97,005,536 (GRCm39) |
H143R |
probably benign |
Het |
Tg |
T |
A |
15: 66,699,231 (GRCm39) |
C833* |
probably null |
Het |
Tmem245 |
A |
G |
4: 56,925,057 (GRCm39) |
S355P |
probably benign |
Het |
Tmem86b |
G |
A |
7: 4,631,465 (GRCm39) |
P191S |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,936,223 (GRCm39) |
C238R |
probably damaging |
Het |
Tnn |
T |
A |
1: 159,968,308 (GRCm39) |
E361D |
probably benign |
Het |
Tpp2 |
T |
C |
1: 44,040,633 (GRCm39) |
V298A |
possibly damaging |
Het |
Trav7-6 |
A |
G |
14: 53,954,536 (GRCm39) |
N22S |
probably damaging |
Het |
Trim75 |
T |
C |
8: 65,435,091 (GRCm39) |
|
probably null |
Het |
Trrap |
T |
A |
5: 144,763,527 (GRCm39) |
I2492N |
probably damaging |
Het |
Ufl1 |
G |
T |
4: 25,254,773 (GRCm39) |
A561E |
probably benign |
Het |
Uqcc1 |
A |
G |
2: 155,752,341 (GRCm39) |
V86A |
probably damaging |
Het |
Vmn1r184 |
A |
G |
7: 25,966,793 (GRCm39) |
I180V |
possibly damaging |
Het |
Vmn1r185 |
A |
G |
7: 26,310,920 (GRCm39) |
F195S |
possibly damaging |
Het |
Vmn2r4 |
A |
C |
3: 64,306,019 (GRCm39) |
|
probably null |
Het |
Vmn2r87 |
T |
C |
10: 130,308,298 (GRCm39) |
T647A |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,813,336 (GRCm39) |
H198Q |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,874,627 (GRCm39) |
T154A |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,347,478 (GRCm39) |
M3240V |
probably benign |
Het |
Zfp101 |
T |
C |
17: 33,600,872 (GRCm39) |
R295G |
possibly damaging |
Het |
Zfp619 |
G |
A |
7: 39,184,938 (GRCm39) |
V323I |
probably benign |
Het |
Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
possibly damaging |
Het |
Zswim6 |
C |
T |
13: 107,863,110 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
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'- AGCTCATGGAGGGTTCTGAAGG -3'
(R):5'- GCTGGCCTTAGCAGTAAGAG -3'
Sequencing Primer
(F):5'- TTCTGAAGGCCTGCTGC -3'
(R):5'- GCCATGCCGTGACACTTC -3'
|
Posted On |
2016-06-15 |