Incidental Mutation 'R4777:Nfkb2'
| ID |
368066 |
| 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 |
041992-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
R4777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
C |
3: 137,771,503 (GRCm39) |
S231R |
probably benign |
Het |
| 5730455P16Rik |
A |
T |
11: 80,265,041 (GRCm39) |
I137N |
probably damaging |
Het |
| Abhd10 |
G |
A |
16: 45,557,279 (GRCm39) |
Q176* |
probably null |
Het |
| Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,557,120 (GRCm39) |
V356A |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,502,312 (GRCm39) |
|
probably null |
Het |
| Bmp8b |
G |
A |
4: 123,015,793 (GRCm39) |
R260Q |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,065,539 (GRCm39) |
V775D |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,622,337 (GRCm39) |
I216F |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,925 (GRCm39) |
N284I |
probably damaging |
Het |
| Cbr1 |
C |
A |
16: 93,406,942 (GRCm39) |
D219E |
probably benign |
Het |
| Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 109,922,055 (GRCm39) |
W49* |
probably null |
Het |
| Cep152 |
C |
T |
2: 125,406,015 (GRCm39) |
V1506I |
probably benign |
Het |
| Cfap97 |
C |
T |
8: 46,648,334 (GRCm39) |
Q537* |
probably null |
Het |
| Cpsf2 |
T |
A |
12: 101,963,091 (GRCm39) |
V385E |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,584 (GRCm39) |
V502A |
possibly damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,224,550 (GRCm39) |
F300L |
probably benign |
Het |
| Fnip1 |
T |
G |
11: 54,391,382 (GRCm39) |
N438K |
probably damaging |
Het |
| Fstl5 |
C |
T |
3: 76,500,807 (GRCm39) |
T412M |
probably damaging |
Het |
| Gm11938 |
T |
A |
11: 99,494,059 (GRCm39) |
Q12L |
unknown |
Het |
| Hcls1 |
G |
T |
16: 36,775,678 (GRCm39) |
A171S |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hydin |
G |
T |
8: 111,137,096 (GRCm39) |
C633F |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,644,145 (GRCm39) |
D381E |
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,541,234 (GRCm39) |
K220E |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,882,600 (GRCm39) |
D2748E |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,300,104 (GRCm39) |
D396E |
probably benign |
Het |
| Impdh1 |
G |
T |
6: 29,205,201 (GRCm39) |
A200E |
possibly damaging |
Het |
| Itga4 |
C |
T |
2: 79,144,054 (GRCm39) |
T647I |
possibly damaging |
Het |
| Jpt1 |
A |
T |
11: 115,391,497 (GRCm39) |
M104K |
probably benign |
Het |
| Krt73 |
C |
A |
15: 101,702,436 (GRCm39) |
A476S |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,546,828 (GRCm39) |
Y363H |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,027 (GRCm39) |
P177L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,312,608 (GRCm39) |
D2560G |
probably damaging |
Het |
| Ly6m |
T |
C |
15: 74,752,532 (GRCm39) |
N48S |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,270,295 (GRCm39) |
F6617I |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,068,051 (GRCm39) |
|
probably null |
Het |
| Mcub |
T |
A |
3: 129,763,600 (GRCm39) |
Q42L |
probably damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,820,700 (GRCm39) |
V150I |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,770,478 (GRCm39) |
V96A |
probably damaging |
Het |
| Or10aa3 |
T |
G |
1: 173,878,244 (GRCm39) |
Y102D |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,933,994 (GRCm39) |
F102L |
possibly damaging |
Het |
| Or1r1 |
A |
G |
11: 73,875,221 (GRCm39) |
V71A |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,568 (GRCm39) |
I153F |
possibly damaging |
Het |
| Plk2 |
A |
C |
13: 110,534,307 (GRCm39) |
M296L |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,960,630 (GRCm39) |
Y262C |
probably benign |
Het |
| Ppfia3 |
C |
A |
7: 44,990,581 (GRCm39) |
G1066V |
probably damaging |
Het |
| Prokr1 |
A |
G |
6: 87,565,842 (GRCm39) |
M1T |
probably null |
Het |
| Ptgs2 |
G |
T |
1: 149,981,138 (GRCm39) |
A474S |
probably benign |
Het |
| Pth2r |
A |
G |
1: 65,427,676 (GRCm39) |
T450A |
possibly damaging |
Het |
| Ranbp6 |
A |
T |
19: 29,789,037 (GRCm39) |
F438L |
probably damaging |
Het |
| Ripor1 |
A |
T |
8: 106,341,622 (GRCm39) |
Q102L |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,694,686 (GRCm39) |
V116I |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,449,258 (GRCm39) |
V3768A |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,913,832 (GRCm39) |
Y1075H |
probably damaging |
Het |
| Senp3 |
C |
T |
11: 69,569,063 (GRCm39) |
G366D |
probably damaging |
Het |
| Smim1 |
T |
C |
4: 154,108,107 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,886,447 (GRCm39) |
I817V |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,307,461 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,810,867 (GRCm39) |
H79Q |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,088,813 (GRCm39) |
K1296E |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,331 (GRCm39) |
Y330* |
probably null |
Het |
| Tnxb |
G |
T |
17: 34,890,917 (GRCm39) |
R420L |
probably damaging |
Het |
| Trim9 |
C |
A |
12: 70,393,845 (GRCm39) |
C33F |
probably damaging |
Het |
| Usp29 |
A |
C |
7: 6,965,747 (GRCm39) |
Y530S |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,921,752 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vrtn |
C |
A |
12: 84,695,600 (GRCm39) |
H117N |
probably damaging |
Het |
| Wdr33 |
C |
T |
18: 32,014,301 (GRCm39) |
H388Y |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,821,186 (GRCm39) |
V222D |
possibly damaging |
Het |
| Zfp953 |
A |
G |
13: 67,491,193 (GRCm39) |
I253T |
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,116,194 (GRCm39) |
V282A |
probably benign |
Het |
| Zscan29 |
A |
T |
2: 120,999,805 (GRCm39) |
V132D |
probably damaging |
Het |
| Zswim4 |
G |
T |
8: 84,963,586 (GRCm39) |
D16E |
probably benign |
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 |
|
R4753: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'- CTGGGTGTCCTGCATGTAAC -3'
(R):5'- GGTATCTCAAGCGCTCTTTTGG -3'
Sequencing Primer
(F):5'- TGTCCTGCATGTAACCAAGAAG -3'
(R):5'- CAAGCGCTCTTTTGGGAATGC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation