Incidental Mutation 'R0561:Nfkb2'
| ID |
45908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfkb2
|
| Ensembl Gene |
ENSMUSG00000025225 |
| Gene Name |
nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 |
| Synonyms |
p52, NF kappaB2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
R0561 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46292759-46300824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46298301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 535
(V535A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041391]
[ENSMUST00000073116]
[ENSMUST00000096029]
[ENSMUST00000111881]
[ENSMUST00000224556]
[ENSMUST00000225323]
|
| AlphaFold |
Q9WTK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041391
|
| SMART Domains |
Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
466 |
N/A |
INTRINSIC |
|
Sec7
|
519 |
708 |
5.08e-75 |
SMART |
|
low complexity region
|
714 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
744 |
N/A |
INTRINSIC |
|
PH
|
757 |
871 |
1.87e-13 |
SMART |
|
Blast:Sec7
|
900 |
952 |
1e-6 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073116
AA Change: V535A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072859
Gene: ENSMUSG00000025225
AA Change: V535A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RHD_DNA_bind
|
40 |
220 |
1.3e-67 |
PFAM |
|
IPT
|
227 |
326 |
3.48e-27 |
SMART |
|
low complexity region
|
351 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
409 |
N/A |
INTRINSIC |
|
ANK
|
487 |
522 |
5.58e1 |
SMART |
|
ANK
|
526 |
555 |
9.78e-4 |
SMART |
|
ANK
|
559 |
591 |
3.74e0 |
SMART |
|
ANK
|
599 |
628 |
3.36e-2 |
SMART |
|
ANK
|
633 |
663 |
1.3e1 |
SMART |
|
ANK
|
667 |
696 |
4.26e-4 |
SMART |
|
low complexity region
|
707 |
721 |
N/A |
INTRINSIC |
|
ANK
|
729 |
758 |
2.35e3 |
SMART |
|
DEATH
|
764 |
851 |
5.52e-16 |
SMART |
|
low complexity region
|
879 |
894 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096029
|
| SMART Domains |
Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
466 |
N/A |
INTRINSIC |
|
Sec7
|
520 |
709 |
5.08e-75 |
SMART |
|
low complexity region
|
715 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
745 |
N/A |
INTRINSIC |
|
PH
|
758 |
872 |
1.87e-13 |
SMART |
|
Blast:Sec7
|
901 |
953 |
1e-6 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111881
AA Change: V535A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107512
Gene: ENSMUSG00000025225
AA Change: V535A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RHD
|
40 |
220 |
1.3e-67 |
PFAM |
|
IPT
|
227 |
326 |
3.48e-27 |
SMART |
|
low complexity region
|
351 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
409 |
N/A |
INTRINSIC |
|
ANK
|
487 |
522 |
5.58e1 |
SMART |
|
ANK
|
526 |
555 |
9.78e-4 |
SMART |
|
ANK
|
559 |
591 |
3.74e0 |
SMART |
|
ANK
|
599 |
628 |
3.36e-2 |
SMART |
|
ANK
|
633 |
663 |
1.3e1 |
SMART |
|
ANK
|
667 |
696 |
4.26e-4 |
SMART |
|
low complexity region
|
707 |
721 |
N/A |
INTRINSIC |
|
ANK
|
729 |
758 |
2.35e3 |
SMART |
|
DEATH
|
764 |
851 |
5.52e-16 |
SMART |
|
low complexity region
|
879 |
894 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226062
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit gastric hyperplasia, enlarged lymph nodes, enhanced cytokine production by activated T cells, absence of Peyer's patches, increased susceptibility to Leishmania major, and early postnatal mortality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(5) Chemically induced(2) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
G |
12: 88,335,204 (GRCm39) |
D30G |
possibly damaging |
Het |
| Apc |
A |
T |
18: 34,446,356 (GRCm39) |
H1050L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,869,188 (GRCm39) |
V166A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,793 (GRCm39) |
I173F |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,786,742 (GRCm39) |
D298G |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,953,391 (GRCm39) |
S1031C |
probably damaging |
Het |
| Calcr |
A |
G |
6: 3,692,630 (GRCm39) |
I408T |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,881,737 (GRCm39) |
N1009S |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,464,165 (GRCm39) |
S266P |
probably benign |
Het |
| Chrna1 |
A |
G |
2: 73,396,596 (GRCm39) |
V433A |
possibly damaging |
Het |
| Ctnnb1 |
G |
A |
9: 120,780,788 (GRCm39) |
V291M |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,138,032 (GRCm39) |
Y99H |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,470,828 (GRCm39) |
H1440L |
possibly damaging |
Het |
| Dsg1c |
A |
T |
18: 20,407,832 (GRCm39) |
I393L |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,506,950 (GRCm39) |
R128L |
probably benign |
Het |
| Ercc3 |
A |
G |
18: 32,378,592 (GRCm39) |
D191G |
possibly damaging |
Het |
| Gp1ba |
A |
T |
11: 70,530,416 (GRCm39) |
|
probably benign |
Het |
| Krt24 |
C |
T |
11: 99,175,439 (GRCm39) |
E199K |
probably damaging |
Het |
| Lrif1 |
G |
T |
3: 106,639,481 (GRCm39) |
A164S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,656 (GRCm39) |
D1682G |
probably damaging |
Het |
| Megf8 |
C |
T |
7: 25,028,257 (GRCm39) |
P274S |
probably benign |
Het |
| Mslnl |
C |
T |
17: 25,962,177 (GRCm39) |
Q192* |
probably null |
Het |
| Or10q1 |
A |
T |
19: 13,726,662 (GRCm39) |
Y64F |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,530,914 (GRCm39) |
I253T |
possibly damaging |
Het |
| Or4c11 |
T |
A |
2: 88,695,024 (GRCm39) |
V25E |
possibly damaging |
Het |
| Or7a37 |
T |
A |
10: 78,805,729 (GRCm39) |
L82* |
probably null |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Or8g22 |
C |
T |
9: 38,958,669 (GRCm39) |
M15I |
probably damaging |
Het |
| Pag1 |
T |
A |
3: 9,764,481 (GRCm39) |
Y224F |
probably damaging |
Het |
| Pbrm1 |
A |
C |
14: 30,757,948 (GRCm39) |
I193L |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,834,876 (GRCm39) |
V17A |
probably benign |
Het |
| Plekhg2 |
T |
G |
7: 28,069,908 (GRCm39) |
T42P |
probably benign |
Het |
| Pmp22 |
T |
A |
11: 63,025,250 (GRCm39) |
W28R |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,832,880 (GRCm39) |
H82Q |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,541,668 (GRCm39) |
|
probably null |
Het |
| Rtl1 |
A |
G |
12: 109,560,363 (GRCm39) |
V492A |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,857,527 (GRCm39) |
|
probably null |
Het |
| Slx4ip |
A |
G |
2: 136,908,090 (GRCm39) |
E79G |
probably null |
Het |
| Syde1 |
C |
T |
10: 78,425,210 (GRCm39) |
R267H |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,758 (GRCm39) |
I90T |
probably benign |
Het |
| Tjp3 |
C |
T |
10: 81,109,674 (GRCm39) |
G843D |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,550,304 (GRCm39) |
M453K |
possibly damaging |
Het |
| Ttc39a |
A |
T |
4: 109,297,799 (GRCm39) |
Y408F |
probably damaging |
Het |
| Usp39 |
T |
G |
6: 72,313,368 (GRCm39) |
Q274P |
probably damaging |
Het |
| Uvrag |
C |
T |
7: 98,537,768 (GRCm39) |
V476I |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,860,372 (GRCm39) |
T332S |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,879,583 (GRCm39) |
H22L |
possibly damaging |
Het |
| Wls |
A |
G |
3: 159,578,705 (GRCm39) |
D89G |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,303,346 (GRCm39) |
V1546E |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,442,134 (GRCm39) |
H147L |
probably damaging |
Het |
|
| Other mutations in Nfkb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
xander
|
APN |
19 |
0 () |
splice acceptor site |
|
|
|
IGL01466:Nfkb2
|
APN |
19 |
46,296,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01791:Nfkb2
|
APN |
19 |
46,298,278 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01966:Nfkb2
|
APN |
19 |
46,298,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03296:Nfkb2
|
APN |
19 |
46,298,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dolores
|
UTSW |
19 |
46,296,662 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Gawk
|
UTSW |
19 |
46,295,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
haze
|
UTSW |
19 |
46,295,873 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
humbert
|
UTSW |
19 |
46,295,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
lolita
|
UTSW |
19 |
46,296,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
Nabukov
|
UTSW |
19 |
46,296,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
pale_fire
|
UTSW |
19 |
46,300,065 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Quilty
|
UTSW |
19 |
46,297,082 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0270:Nfkb2
|
UTSW |
19 |
46,300,065 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1944:Nfkb2
|
UTSW |
19 |
46,296,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Nfkb2
|
UTSW |
19 |
46,296,163 (GRCm39) |
splice site |
probably null |
|
|
R2878:Nfkb2
|
UTSW |
19 |
46,295,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4493:Nfkb2
|
UTSW |
19 |
46,296,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4494:Nfkb2
|
UTSW |
19 |
46,296,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4495:Nfkb2
|
UTSW |
19 |
46,296,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4731:Nfkb2
|
UTSW |
19 |
46,297,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4752:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4753:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4777:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4780:Nfkb2
|
UTSW |
19 |
46,298,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Nfkb2
|
UTSW |
19 |
46,296,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4837:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4839:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5514:Nfkb2
|
UTSW |
19 |
46,299,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5519:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5549:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5615:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5616:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5709:Nfkb2
|
UTSW |
19 |
46,298,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Nfkb2
|
UTSW |
19 |
46,300,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6794:Nfkb2
|
UTSW |
19 |
46,296,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7539:Nfkb2
|
UTSW |
19 |
46,296,662 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7573:Nfkb2
|
UTSW |
19 |
46,297,082 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7963:Nfkb2
|
UTSW |
19 |
46,298,358 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8147:Nfkb2
|
UTSW |
19 |
46,295,873 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8153:Nfkb2
|
UTSW |
19 |
46,296,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8241:Nfkb2
|
UTSW |
19 |
46,296,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8992:Nfkb2
|
UTSW |
19 |
46,295,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9405:Nfkb2
|
UTSW |
19 |
46,296,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9549:Nfkb2
|
UTSW |
19 |
46,298,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Nfkb2
|
UTSW |
19 |
46,298,782 (GRCm39) |
missense |
probably benign |
0.02 |
|
S24628:Nfkb2
|
UTSW |
19 |
46,296,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Nfkb2
|
UTSW |
19 |
46,300,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGCTGGGTTTCTGAAGACAAAG -3'
(R):5'- GCAATATTTGGGGCACAGCATGG -3'
Sequencing Primer
(F):5'- GGGTTTCTGAAGACAAAGTCTCAATC -3'
(R):5'- CAACAGTGCCTGCAACAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation