Incidental Mutation 'R5550:Nfkbid'
ID |
435087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfkbid
|
Ensembl Gene |
ENSMUSG00000036931 |
Gene Name |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, delta |
Synonyms |
IkappaBNS |
MMRRC Submission |
043107-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R5550 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30121157-30128171 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30125426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 303
(L303Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046177]
[ENSMUST00000108175]
[ENSMUST00000108176]
|
AlphaFold |
Q2TB02 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046177
AA Change: L160Q
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042317 Gene: ENSMUSG00000036931 AA Change: L160Q
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
41 |
N/A |
INTRINSIC |
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
ANK
|
98 |
127 |
2.07e-2 |
SMART |
ANK
|
131 |
160 |
1.5e1 |
SMART |
ANK
|
166 |
215 |
5.58e1 |
SMART |
ANK
|
220 |
250 |
4.93e0 |
SMART |
ANK
|
257 |
290 |
8.39e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108175
AA Change: L160Q
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103810 Gene: ENSMUSG00000036931 AA Change: L160Q
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
41 |
N/A |
INTRINSIC |
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
ANK
|
98 |
127 |
2.07e-2 |
SMART |
ANK
|
131 |
160 |
1.5e1 |
SMART |
ANK
|
166 |
215 |
5.58e1 |
SMART |
ANK
|
220 |
250 |
4.93e0 |
SMART |
ANK
|
257 |
290 |
8.39e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108176
AA Change: L303Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103811 Gene: ENSMUSG00000036931 AA Change: L303Q
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
41 |
N/A |
INTRINSIC |
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
ANK
|
98 |
127 |
2.07e-2 |
SMART |
ANK
|
131 |
160 |
1.5e1 |
SMART |
ANK
|
166 |
215 |
5.58e1 |
SMART |
ANK
|
220 |
250 |
4.93e0 |
SMART |
ANK
|
257 |
290 |
8.39e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153042
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele produce higher levels of IL-6 following stimulation and are more susceptible to chemically induced endotoxin shock and colitis. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(3) |
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,900,129 (GRCm39) |
I1295M |
probably benign |
Het |
Adgrb2 |
G |
T |
4: 129,908,727 (GRCm39) |
|
probably null |
Het |
Adig |
A |
T |
2: 158,349,880 (GRCm39) |
|
probably benign |
Het |
Atp5po |
C |
A |
16: 91,727,292 (GRCm39) |
V15F |
probably damaging |
Het |
Bdh2 |
A |
G |
3: 134,994,074 (GRCm39) |
K52R |
probably benign |
Het |
Bud23 |
A |
G |
5: 135,092,744 (GRCm39) |
V27A |
probably benign |
Het |
Ces2b |
A |
G |
8: 105,565,069 (GRCm39) |
D551G |
probably benign |
Het |
Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
Dio3 |
A |
T |
12: 110,246,560 (GRCm39) |
T299S |
probably benign |
Het |
Dnah1 |
T |
A |
14: 31,038,665 (GRCm39) |
I139F |
probably benign |
Het |
Dpy30 |
A |
G |
17: 74,622,920 (GRCm39) |
Y21H |
probably benign |
Het |
Gbp4 |
C |
T |
5: 105,269,911 (GRCm39) |
V306M |
probably damaging |
Het |
Gcat |
G |
A |
15: 78,926,411 (GRCm39) |
V94M |
probably benign |
Het |
H2bc27 |
A |
G |
11: 58,840,146 (GRCm39) |
*127W |
probably null |
Het |
Henmt1 |
A |
G |
3: 108,861,184 (GRCm39) |
Y69C |
probably damaging |
Het |
Kank4 |
A |
G |
4: 98,659,678 (GRCm39) |
F800S |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,389,003 (GRCm39) |
T2141S |
unknown |
Het |
Map3k4 |
G |
A |
17: 12,462,445 (GRCm39) |
R1143* |
probably null |
Het |
Mdc1 |
A |
G |
17: 36,156,776 (GRCm39) |
D61G |
possibly damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,340 (GRCm39) |
N267S |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,337,652 (GRCm39) |
N300D |
probably damaging |
Het |
P2ry1 |
T |
C |
3: 60,911,232 (GRCm39) |
C124R |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,695,008 (GRCm39) |
C153Y |
probably damaging |
Het |
Speg |
A |
T |
1: 75,405,744 (GRCm39) |
T2983S |
probably damaging |
Het |
Tbc1d2 |
G |
A |
4: 46,646,138 (GRCm39) |
P163S |
probably benign |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,839,746 (GRCm39) |
V78E |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,738,820 (GRCm39) |
C709R |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,545,418 (GRCm39) |
V828D |
possibly damaging |
Het |
|
Other mutations in Nfkbid |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02377:Nfkbid
|
APN |
7 |
30,124,689 (GRCm39) |
nonsense |
probably null |
|
IGL02809:Nfkbid
|
APN |
7 |
30,124,660 (GRCm39) |
missense |
possibly damaging |
0.60 |
bumble
|
UTSW |
7 |
30,124,836 (GRCm39) |
critical splice donor site |
probably benign |
|
R1515:Nfkbid
|
UTSW |
7 |
30,124,781 (GRCm39) |
missense |
probably benign |
0.00 |
R6190:Nfkbid
|
UTSW |
7 |
30,125,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R6668:Nfkbid
|
UTSW |
7 |
30,123,866 (GRCm39) |
missense |
probably benign |
0.00 |
R6994:Nfkbid
|
UTSW |
7 |
30,125,192 (GRCm39) |
missense |
probably benign |
|
R7137:Nfkbid
|
UTSW |
7 |
30,125,681 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7788:Nfkbid
|
UTSW |
7 |
30,126,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R8126:Nfkbid
|
UTSW |
7 |
30,123,799 (GRCm39) |
missense |
probably benign |
0.30 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGTGGAAGACCTGCTGAG -3'
(R):5'- AATTCTGCATCCTTGGACACAC -3'
Sequencing Primer
(F):5'- AAGACCTGCTGAGCCTGG -3'
(R):5'- TCCTTGGACACACACTAGCTGG -3'
|
Posted On |
2016-10-24 |