Incidental Mutation 'IGL01791:Nfkb2'
ID |
155232 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01791
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
46292759-46300824 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to G
at 46298278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152942
(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 |
probably benign
Transcript: ENSMUST00000073116
|
SMART Domains |
Protein: ENSMUSP00000072859 Gene: ENSMUSG00000025225
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 |
probably benign
Transcript: ENSMUST00000111881
|
SMART Domains |
Protein: ENSMUSP00000107512 Gene: ENSMUSG00000025225
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap32 |
A |
G |
9: 32,158,486 (GRCm39) |
I174V |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,567,211 (GRCm39) |
C511S |
probably damaging |
Het |
Atr |
C |
T |
9: 95,803,834 (GRCm39) |
A1896V |
probably benign |
Het |
B3gnt4 |
C |
T |
5: 123,649,162 (GRCm39) |
R176C |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,926,095 (GRCm39) |
D557G |
probably benign |
Het |
Catsperg2 |
T |
A |
7: 29,404,090 (GRCm39) |
|
probably null |
Het |
Cdip1 |
A |
G |
16: 4,586,729 (GRCm39) |
I122T |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,199 (GRCm39) |
E147K |
probably benign |
Het |
Dennd2c |
T |
C |
3: 103,073,741 (GRCm39) |
V829A |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,625,364 (GRCm39) |
L3874Q |
probably damaging |
Het |
Dynlt4 |
T |
A |
4: 116,985,794 (GRCm39) |
S206T |
probably damaging |
Het |
Gm10521 |
T |
C |
1: 171,723,964 (GRCm39) |
S92P |
unknown |
Het |
Gm57858 |
T |
C |
3: 36,089,416 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hddc2 |
A |
G |
10: 31,202,022 (GRCm39) |
Y123C |
probably damaging |
Het |
Hyal4 |
T |
C |
6: 24,763,894 (GRCm39) |
|
probably benign |
Het |
Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
Ing2 |
A |
T |
8: 48,122,070 (GRCm39) |
S159R |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,124,197 (GRCm39) |
N698K |
probably benign |
Het |
Lemd2 |
A |
T |
17: 27,409,702 (GRCm39) |
I483N |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,887 (GRCm39) |
L519P |
probably damaging |
Het |
Mapk10 |
T |
C |
5: 103,144,514 (GRCm39) |
N101S |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,695 (GRCm39) |
E164V |
probably null |
Het |
Nox3 |
A |
G |
17: 3,733,218 (GRCm39) |
V231A |
possibly damaging |
Het |
Nup160 |
G |
A |
2: 90,534,197 (GRCm39) |
G674D |
probably damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,548 (GRCm39) |
D108V |
probably damaging |
Het |
Or56b1 |
C |
T |
7: 104,285,682 (GRCm39) |
T267I |
possibly damaging |
Het |
Otoa |
T |
G |
7: 120,755,072 (GRCm39) |
V998G |
probably benign |
Het |
Pcnx3 |
A |
T |
19: 5,723,295 (GRCm39) |
M1300K |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,448,127 (GRCm39) |
|
probably benign |
Het |
Rfc1 |
T |
A |
5: 65,420,488 (GRCm39) |
K1104I |
probably benign |
Het |
Serpina1f |
G |
T |
12: 103,659,761 (GRCm39) |
Q174K |
probably damaging |
Het |
Serping1 |
T |
C |
2: 84,603,721 (GRCm39) |
N107D |
possibly damaging |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Surf6 |
A |
G |
2: 26,789,759 (GRCm39) |
S94P |
probably benign |
Het |
Tigd4 |
T |
A |
3: 84,502,052 (GRCm39) |
I323N |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,491,161 (GRCm39) |
D362G |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,085,278 (GRCm39) |
S739P |
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 |
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 |
R0561:Nfkb2
|
UTSW |
19 |
46,298,301 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
|
Posted On |
2014-02-04 |