Incidental Mutation 'R5615:Nfkb2'
| ID |
438223 |
| 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 # |
R5615 (G1)
|
| Quality Score |
218 |
|
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: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,346,218 (GRCm39) |
L884H |
probably damaging |
Het |
| Ahr |
A |
G |
12: 35,553,884 (GRCm39) |
V745A |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,431,295 (GRCm39) |
S830T |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,136,125 (GRCm39) |
T1123A |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,629,792 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
T |
A |
11: 85,361,587 (GRCm39) |
C250S |
probably damaging |
Het |
| Bckdk |
T |
C |
7: 127,506,489 (GRCm39) |
I272T |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,287,916 (GRCm39) |
K1897E |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,711 (GRCm39) |
I586F |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,367,012 (GRCm39) |
D1121G |
probably damaging |
Het |
| Clasrp |
A |
G |
7: 19,320,372 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,199,351 (GRCm39) |
K912N |
probably damaging |
Het |
| Dock4 |
G |
T |
12: 40,699,479 (GRCm39) |
R231L |
probably benign |
Het |
| Ell |
G |
A |
8: 71,043,382 (GRCm39) |
S505N |
probably benign |
Het |
| Ephb6 |
A |
G |
6: 41,596,225 (GRCm39) |
T833A |
probably benign |
Het |
| Hemk1 |
T |
A |
9: 107,208,023 (GRCm39) |
|
probably null |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hspa12a |
T |
C |
19: 58,793,082 (GRCm39) |
I368V |
possibly damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,214 (GRCm39) |
T19S |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,465,561 (GRCm39) |
A2158T |
possibly damaging |
Het |
| Lancl2 |
T |
C |
6: 57,699,496 (GRCm39) |
Y104H |
probably damaging |
Het |
| Leng8 |
G |
T |
7: 4,147,957 (GRCm39) |
E634* |
probably null |
Het |
| Lrrk1 |
A |
T |
7: 65,937,363 (GRCm39) |
C930S |
probably damaging |
Het |
| Lvrn |
C |
T |
18: 46,983,395 (GRCm39) |
S46L |
possibly damaging |
Het |
| Mcidas |
G |
A |
13: 113,133,959 (GRCm39) |
V148I |
probably benign |
Het |
| Mprip |
A |
T |
11: 59,649,313 (GRCm39) |
T1006S |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,293,234 (GRCm39) |
M106L |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mtor |
G |
A |
4: 148,622,733 (GRCm39) |
V1938I |
possibly damaging |
Het |
| Muc2 |
A |
G |
7: 141,277,446 (GRCm39) |
D46G |
probably damaging |
Het |
| Or10ag52 |
T |
A |
2: 87,044,083 (GRCm39) |
F282L |
probably benign |
Het |
| Or6c215 |
A |
T |
10: 129,637,636 (GRCm39) |
C253S |
probably damaging |
Het |
| Osbp2 |
C |
T |
11: 3,813,356 (GRCm39) |
G171D |
probably benign |
Het |
| Otud6b |
A |
T |
4: 14,818,187 (GRCm39) |
M238K |
possibly damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,279,476 (GRCm39) |
G819R |
probably benign |
Het |
| Pcdhac2 |
G |
T |
18: 37,279,477 (GRCm39) |
G819V |
probably benign |
Het |
| Pcdhga12 |
T |
G |
18: 37,901,132 (GRCm39) |
S655A |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,356,842 (GRCm39) |
I756V |
probably benign |
Het |
| Plekhd1 |
T |
A |
12: 80,767,364 (GRCm39) |
S251T |
probably damaging |
Het |
| Ppp2r1a |
A |
T |
17: 21,179,249 (GRCm39) |
T96S |
probably benign |
Het |
| Qser1 |
A |
C |
2: 104,620,039 (GRCm39) |
S258A |
possibly damaging |
Het |
| Rsph4a |
G |
A |
10: 33,785,324 (GRCm39) |
A412T |
probably benign |
Het |
| Sanbr |
A |
T |
11: 23,556,759 (GRCm39) |
L407H |
probably damaging |
Het |
| Sass6 |
T |
A |
3: 116,401,135 (GRCm39) |
C159S |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,048,848 (GRCm39) |
Q322R |
unknown |
Het |
| Sema6d |
C |
T |
2: 124,498,821 (GRCm39) |
H244Y |
probably damaging |
Het |
| Sigirr |
T |
G |
7: 140,672,632 (GRCm39) |
L163F |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,183,078 (GRCm39) |
L207I |
possibly damaging |
Het |
| Tacstd2 |
A |
G |
6: 67,512,033 (GRCm39) |
F220L |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tnxb |
C |
A |
17: 34,902,392 (GRCm39) |
Q1082K |
probably damaging |
Het |
| Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,807,297 (GRCm39) |
R1014C |
probably damaging |
Het |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,677 (GRCm39) |
M430K |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,917 (GRCm39) |
E779G |
probably damaging |
Het |
| Zfp599 |
T |
C |
9: 22,165,165 (GRCm39) |
D70G |
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,943,191 (GRCm39) |
I301N |
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 |
|
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 |
|
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 |
2016-10-26 |
Incidental Mutation