Incidental Mutation 'S24628:Nfkb2'
| ID |
385676 |
| 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 |
NF kappaB2, p52 |
| Accession Numbers |
Genbank: NM_019408; MGI: 1099800 |
| Is this an essential gene? |
Possibly non essential
(E-score: 0.497)
|
| Stock # |
S24628 ()
of strain
waterfowl
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46304737-46312090 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 46307567 bp (GRCm38)
|
| 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: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
G |
A |
17: 55,852,288 |
V658I |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,232,118 |
Y249H |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,111,524 |
T223S |
unknown |
Homo |
| Gbp4 |
G |
A |
5: 105,121,106 |
R394C |
possibly damaging |
Het |
| Gpr183 |
C |
A |
14: 121,954,476 |
C211F |
probably damaging |
Homo |
| Lcp1 |
A |
T |
14: 75,227,006 |
I556F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,747,444 |
P513S |
probably benign |
Het |
| Letm1 |
G |
A |
5: 33,747,446 |
P512L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,346,786 |
V283A |
possibly damaging |
Het |
| Npr3 |
C |
A |
15: 11,848,563 |
M439I |
probably benign |
Het |
| Olfr1023 |
A |
T |
2: 85,887,438 |
I213F |
possibly damaging |
Het |
| Olfr1034 |
A |
T |
2: 86,047,055 |
H191L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,691,886 |
A120V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,337,499 |
Y609C |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,357,336 |
H104Y |
probably benign |
Homo |
| Rnf213 |
A |
T |
11: 119,414,469 |
I509F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,869,156 |
S213G |
probably damaging |
Homo |
| Spint1 |
A |
G |
2: 119,245,615 |
T231A |
probably damaging |
Het |
| Tbcel |
C |
A |
9: 42,444,500 |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,679,973 |
S573A |
probably benign |
Het |
| Tmem43 |
C |
A |
6: 91,482,318 |
P257Q |
probably benign |
Homo |
| Tmprss13 |
A |
G |
9: 45,337,132 |
|
probably null |
Het |
| Tnc |
C |
T |
4: 64,018,012 |
G229D |
probably damaging |
Homo |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,216,158 |
|
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,293,836 |
V215D |
probably damaging |
Homo |
| Vmn1r22 |
G |
T |
6: 57,900,332 |
T220K |
probably benign |
Homo |
| Vmn2r116 |
G |
A |
17: 23,387,279 |
M388I |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,770,811 |
M1V |
probably null |
Homo |
| Zfp282 |
A |
G |
6: 47,897,881 |
D340G |
probably damaging |
Homo |
| Zfp282 |
T |
A |
6: 47,905,053 |
I558N |
possibly damaging |
Homo |
|
| Other mutations in Nfkb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
xander
|
APN |
19 |
|
splice acceptor site |
|
|
|
IGL01466:Nfkb2
|
APN |
19 |
46308016 |
missense |
probably damaging |
0.96 |
|
IGL01791:Nfkb2
|
APN |
19 |
46309839 |
unclassified |
probably benign |
|
|
IGL01966:Nfkb2
|
APN |
19 |
46309690 |
missense |
probably benign |
0.04 |
|
IGL03296:Nfkb2
|
APN |
19 |
46309928 |
missense |
probably damaging |
1.00 |
|
Dolores
|
UTSW |
19 |
46308223 |
missense |
possibly damaging |
0.86 |
|
Gawk
|
UTSW |
19 |
46306865 |
missense |
probably damaging |
1.00 |
|
haze
|
UTSW |
19 |
46307434 |
missense |
possibly damaging |
0.93 |
|
humbert
|
UTSW |
19 |
46307441 |
missense |
possibly damaging |
0.86 |
|
lolita
|
UTSW |
19 |
46307720 |
critical splice donor site |
probably null |
|
|
Nabukov
|
UTSW |
19 |
46308439 |
missense |
probably damaging |
0.99 |
|
pale_fire
|
UTSW |
19 |
46311626 |
missense |
possibly damaging |
0.96 |
|
Quilty
|
UTSW |
19 |
46308643 |
missense |
possibly damaging |
0.64 |
|
R0270:Nfkb2
|
UTSW |
19 |
46311626 |
missense |
possibly damaging |
0.96 |
|
R0561:Nfkb2
|
UTSW |
19 |
46309862 |
missense |
possibly damaging |
0.93 |
|
R1944:Nfkb2
|
UTSW |
19 |
46308052 |
missense |
probably damaging |
1.00 |
|
R2217:Nfkb2
|
UTSW |
19 |
46307724 |
splice site |
probably null |
|
|
R2878:Nfkb2
|
UTSW |
19 |
46307441 |
missense |
possibly damaging |
0.86 |
|
R4493:Nfkb2
|
UTSW |
19 |
46308439 |
missense |
probably damaging |
0.99 |
|
R4494:Nfkb2
|
UTSW |
19 |
46308439 |
missense |
probably damaging |
0.99 |
|
R4495:Nfkb2
|
UTSW |
19 |
46308439 |
missense |
probably damaging |
0.99 |
|
R4731:Nfkb2
|
UTSW |
19 |
46308964 |
missense |
possibly damaging |
0.74 |
|
R4752:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R4753:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R4777:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R4780:Nfkb2
|
UTSW |
19 |
46309922 |
missense |
probably damaging |
1.00 |
|
R4820:Nfkb2
|
UTSW |
19 |
46308054 |
missense |
probably damaging |
0.99 |
|
R4837:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R4839:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R5514:Nfkb2
|
UTSW |
19 |
46311408 |
missense |
probably damaging |
1.00 |
|
R5519:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R5549:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R5615:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R5616:Nfkb2
|
UTSW |
19 |
46307567 |
missense |
probably benign |
0.02 |
|
R5709:Nfkb2
|
UTSW |
19 |
46310521 |
missense |
probably damaging |
1.00 |
|
R6053:Nfkb2
|
UTSW |
19 |
46311812 |
missense |
probably damaging |
1.00 |
|
R6794:Nfkb2
|
UTSW |
19 |
46307720 |
critical splice donor site |
probably null |
|
|
R7539:Nfkb2
|
UTSW |
19 |
46308223 |
missense |
possibly damaging |
0.86 |
|
R7573:Nfkb2
|
UTSW |
19 |
46308643 |
missense |
possibly damaging |
0.64 |
|
R7963:Nfkb2
|
UTSW |
19 |
46309919 |
missense |
possibly damaging |
0.78 |
|
R8147:Nfkb2
|
UTSW |
19 |
46307434 |
missense |
possibly damaging |
0.93 |
|
R8153:Nfkb2
|
UTSW |
19 |
46308016 |
missense |
probably damaging |
0.96 |
|
R8241:Nfkb2
|
UTSW |
19 |
46307615 |
missense |
probably benign |
0.01 |
|
R8992:Nfkb2
|
UTSW |
19 |
46306865 |
missense |
probably damaging |
1.00 |
|
R9405:Nfkb2
|
UTSW |
19 |
46308400 |
missense |
probably damaging |
1.00 |
|
R9549:Nfkb2
|
UTSW |
19 |
46309672 |
missense |
probably damaging |
1.00 |
|
R9709:Nfkb2
|
UTSW |
19 |
46310343 |
missense |
probably benign |
0.02 |
|
Z1177:Nfkb2
|
UTSW |
19 |
46311590 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGTGTCCTGCATGTAAC -3'
(R):5'- GTATCTCAAGCGCTCTTTTGG -3'
Sequencing Primer
(F):5'- TGTCCTGCATGTAACCAAGAAG -3'
(R):5'- CAAGCGCTCTTTTGGGAATGC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation