Incidental Mutation 'R4753:Nfkb2'
ID |
357761 |
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 |
MMRRC Submission |
041971-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.586)
|
Stock # |
R4753 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
46292759-46300824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 46296006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 170
(E170D)
|
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 |
probably benign
Transcript: ENSMUST00000073116
AA Change: E170D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000072859 Gene: ENSMUSG00000025225 AA Change: E170D
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
AA Change: E170D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000107512 Gene: ENSMUSG00000025225 AA Change: E170D
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
|
Meta Mutation Damage Score |
0.0839 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
98% (57/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd55 |
T |
A |
13: 112,500,009 (GRCm39) |
D257E |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,494,938 (GRCm39) |
V399A |
probably damaging |
Het |
Atp8b5 |
C |
T |
4: 43,372,710 (GRCm39) |
P1117S |
probably damaging |
Het |
Cd48 |
A |
G |
1: 171,527,156 (GRCm39) |
Q194R |
probably damaging |
Het |
Cdk13 |
G |
A |
13: 17,937,833 (GRCm39) |
R737C |
probably damaging |
Het |
Clasrp |
A |
T |
7: 19,328,865 (GRCm39) |
I89N |
probably damaging |
Het |
Clrn1 |
G |
T |
3: 58,792,318 (GRCm39) |
N48K |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,043,451 (GRCm39) |
V1313E |
possibly damaging |
Het |
Cyld |
T |
A |
8: 89,471,444 (GRCm39) |
|
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dtl |
T |
C |
1: 191,301,815 (GRCm39) |
T81A |
probably damaging |
Het |
Dus1l |
C |
T |
11: 120,682,901 (GRCm39) |
E299K |
probably benign |
Het |
E130114P18Rik |
A |
T |
4: 97,463,129 (GRCm39) |
D14E |
possibly damaging |
Het |
Fam83g |
C |
A |
11: 61,586,095 (GRCm39) |
H228N |
probably damaging |
Het |
Fhod3 |
A |
T |
18: 25,223,382 (GRCm39) |
K909N |
possibly damaging |
Het |
Fign |
T |
A |
2: 63,809,363 (GRCm39) |
I636L |
probably benign |
Het |
Foxm1 |
A |
G |
6: 128,349,519 (GRCm39) |
E346G |
probably null |
Het |
Gcc2 |
T |
C |
10: 58,126,204 (GRCm39) |
Y1271H |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,754,537 (GRCm39) |
V2379A |
probably benign |
Het |
Grin2d |
G |
T |
7: 45,483,330 (GRCm39) |
P949Q |
probably damaging |
Het |
Ighv1-43 |
C |
A |
12: 114,909,762 (GRCm39) |
M53I |
probably benign |
Het |
Itgad |
A |
G |
7: 127,822,875 (GRCm39) |
*97W |
probably null |
Het |
Jade1 |
C |
T |
3: 41,551,106 (GRCm39) |
R2* |
probably null |
Het |
Lama3 |
G |
T |
18: 12,615,141 (GRCm39) |
C1355F |
probably damaging |
Het |
Map3k13 |
T |
C |
16: 21,710,752 (GRCm39) |
S12P |
probably benign |
Het |
Masp2 |
A |
G |
4: 148,696,608 (GRCm39) |
T402A |
probably benign |
Het |
Mill1 |
A |
C |
7: 17,996,472 (GRCm39) |
K96T |
probably benign |
Het |
Muc19 |
T |
G |
15: 91,761,955 (GRCm39) |
|
noncoding transcript |
Het |
Muc5b |
C |
A |
7: 141,410,590 (GRCm39) |
T1321N |
unknown |
Het |
Or1ad1 |
T |
C |
11: 50,875,978 (GRCm39) |
V150A |
probably benign |
Het |
Or1e35 |
T |
A |
11: 73,797,677 (GRCm39) |
I214F |
probably damaging |
Het |
Pdgfra |
C |
T |
5: 75,342,185 (GRCm39) |
P669S |
probably damaging |
Het |
Procr |
A |
G |
2: 155,595,384 (GRCm39) |
N63D |
probably damaging |
Het |
Prrc2c |
A |
G |
1: 162,518,799 (GRCm39) |
S2136P |
probably damaging |
Het |
Rab11fip1 |
T |
C |
8: 27,642,769 (GRCm39) |
M677V |
probably benign |
Het |
Rad52 |
T |
A |
6: 119,889,946 (GRCm39) |
|
probably benign |
Het |
Rasa1 |
A |
G |
13: 85,436,509 (GRCm39) |
|
probably null |
Het |
Rogdi |
T |
C |
16: 4,828,363 (GRCm39) |
T189A |
probably damaging |
Het |
Rph3al |
G |
A |
11: 75,799,845 (GRCm39) |
T38M |
probably damaging |
Het |
Rps6ka2 |
T |
A |
17: 7,566,707 (GRCm39) |
V655E |
possibly damaging |
Het |
Sik3 |
T |
C |
9: 46,109,512 (GRCm39) |
F499L |
probably damaging |
Het |
Skint4 |
A |
G |
4: 112,003,728 (GRCm39) |
N387S |
probably benign |
Het |
Slc6a12 |
C |
T |
6: 121,333,862 (GRCm39) |
|
probably benign |
Het |
Stk36 |
A |
G |
1: 74,665,255 (GRCm39) |
T667A |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,053,212 (GRCm39) |
I3378V |
probably benign |
Het |
Thnsl1 |
C |
T |
2: 21,218,175 (GRCm39) |
T122I |
probably damaging |
Het |
Timeless |
G |
A |
10: 128,075,889 (GRCm39) |
|
probably benign |
Het |
Tnxb |
G |
A |
17: 34,914,909 (GRCm39) |
V1966I |
possibly damaging |
Het |
Tril |
A |
G |
6: 53,796,698 (GRCm39) |
F175L |
probably damaging |
Het |
Vav1 |
A |
G |
17: 57,613,140 (GRCm39) |
Y604C |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,508,074 (GRCm39) |
M736L |
probably benign |
Het |
Zscan10 |
A |
C |
17: 23,826,208 (GRCm39) |
E123D |
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 |
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 |
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'- ATCTGGGTGTCCTGCATGTAAC -3'
(R):5'- TATCTCAAGCGCTCTTTTGGG -3'
Sequencing Primer
(F):5'- TGTCCTGCATGTAACCAAGAAG -3'
(R):5'- CAAGCGCTCTTTTGGGAATGC -3'
|
Posted On |
2015-11-11 |