Incidental Mutation 'R3277:Pdcd11'
ID |
258293 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdcd11
|
Ensembl Gene |
ENSMUSG00000025047 |
Gene Name |
programmed cell death 11 |
Synonyms |
ALG-4, 1110021I22Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R3277 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47079183-47119585 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47101703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 963
(F963L)
|
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: F963L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072008 Gene: ENSMUSG00000025047 AA Change: F963L
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,314,020 (GRCm39) |
R553G |
possibly damaging |
Het |
Adarb2 |
A |
G |
13: 8,802,663 (GRCm39) |
N646S |
probably damaging |
Het |
Adcy8 |
C |
T |
15: 64,571,008 (GRCm39) |
G1242S |
probably benign |
Het |
Ano9 |
T |
A |
7: 140,684,037 (GRCm39) |
T543S |
probably damaging |
Het |
Btnl10 |
A |
G |
11: 58,813,216 (GRCm39) |
K282E |
probably benign |
Het |
Btnl9 |
T |
C |
11: 49,060,503 (GRCm39) |
D330G |
probably damaging |
Het |
Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
Cdx2 |
A |
T |
5: 147,240,002 (GRCm39) |
S225T |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,617,120 (GRCm39) |
I843M |
probably benign |
Het |
Cntn4 |
G |
A |
6: 106,414,925 (GRCm39) |
|
probably null |
Het |
Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
Dennd4a |
G |
T |
9: 64,796,275 (GRCm39) |
R767L |
probably damaging |
Het |
Dgkb |
G |
A |
12: 38,134,216 (GRCm39) |
V41M |
probably damaging |
Het |
Duox1 |
T |
C |
2: 122,170,597 (GRCm39) |
Y1206H |
probably damaging |
Het |
Dync1i1 |
T |
C |
6: 5,972,211 (GRCm39) |
|
probably null |
Het |
Fbxw2 |
T |
C |
2: 34,712,762 (GRCm39) |
T100A |
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,791,086 (GRCm39) |
H782Q |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,122,195 (GRCm39) |
Q1455L |
unknown |
Het |
Frrs1 |
T |
C |
3: 116,692,873 (GRCm39) |
F49S |
probably damaging |
Het |
Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
Gm7104 |
A |
T |
12: 88,252,498 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
Hacd4 |
T |
C |
4: 88,355,747 (GRCm39) |
H46R |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,803,176 (GRCm39) |
V2175A |
probably benign |
Het |
Hey1 |
T |
C |
3: 8,729,951 (GRCm39) |
S169G |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hlf |
T |
C |
11: 90,236,661 (GRCm39) |
K199E |
probably damaging |
Het |
Hpgd |
C |
A |
8: 56,751,448 (GRCm39) |
A92E |
probably damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
Kif2a |
A |
G |
13: 107,113,264 (GRCm39) |
I455T |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lamc3 |
G |
T |
2: 31,798,637 (GRCm39) |
G448C |
probably damaging |
Het |
Ltbp1 |
G |
A |
17: 75,583,475 (GRCm39) |
G425D |
possibly damaging |
Het |
Ltbp1 |
T |
A |
17: 75,666,273 (GRCm39) |
|
probably null |
Het |
Mag |
C |
T |
7: 30,601,073 (GRCm39) |
|
probably null |
Het |
Mdh1b |
G |
A |
1: 63,750,690 (GRCm39) |
T426M |
possibly damaging |
Het |
Nr1h4 |
G |
A |
10: 89,314,650 (GRCm39) |
T282I |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
Or52k2 |
T |
C |
7: 102,253,783 (GRCm39) |
V74A |
possibly damaging |
Het |
Or9s27 |
A |
G |
1: 92,516,535 (GRCm39) |
N161S |
probably benign |
Het |
Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
Parp9 |
T |
C |
16: 35,768,578 (GRCm39) |
S20P |
probably damaging |
Het |
Pwp1 |
C |
T |
10: 85,717,943 (GRCm39) |
L294F |
probably benign |
Het |
Radil |
A |
G |
5: 142,492,611 (GRCm39) |
L339P |
probably damaging |
Het |
Raver1 |
G |
A |
9: 20,990,573 (GRCm39) |
P316S |
possibly damaging |
Het |
Rell1 |
A |
G |
5: 64,084,330 (GRCm39) |
|
probably null |
Het |
Rxrg |
A |
G |
1: 167,463,269 (GRCm39) |
D257G |
possibly damaging |
Het |
Sema4c |
C |
T |
1: 36,588,960 (GRCm39) |
R722H |
possibly damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Spata7 |
A |
G |
12: 98,603,857 (GRCm39) |
N75D |
possibly damaging |
Het |
Ttc23l |
A |
G |
15: 10,547,318 (GRCm39) |
F99L |
possibly damaging |
Het |
Unc13a |
A |
C |
8: 72,082,339 (GRCm39) |
C1642G |
probably benign |
Het |
Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
Wrn |
A |
G |
8: 33,807,582 (GRCm39) |
M292T |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,508,959 (GRCm39) |
Y462H |
probably damaging |
Het |
Zscan5b |
T |
A |
7: 6,234,345 (GRCm39) |
Y124N |
possibly damaging |
Het |
Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
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 |
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 |
|
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'- TTCAAATGAAACGCATGGGATG -3'
(R):5'- TTTGTCCCCAATAGCCAGGC -3'
Sequencing Primer
(F):5'- GAGAAGTGTTGCAAATTTTTCAGG -3'
(R):5'- GCTATGCCTTTTCTTAGACTTCACAG -3'
|
Posted On |
2015-01-23 |