Incidental Mutation 'R3177:Pdcd11'
| ID |
476073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdcd11
|
| Ensembl Gene |
ENSMUSG00000025047 |
| Gene Name |
programmed cell death 11 |
| Synonyms |
ALG-4, 1110021I22Rik |
| MMRRC Submission |
040615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R3177 (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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (21/21) |
| 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: 65 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 |
| Cyb561 |
T |
C |
11: 105,826,613 (GRCm39) |
|
probably benign |
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 |
| Gm5581 |
C |
G |
6: 131,143,928 (GRCm39) |
|
noncoding transcript |
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 |
| Hao2 |
T |
C |
3: 98,787,644 (GRCm39) |
|
probably benign |
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 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2017-05-11 |
Incidental Mutation