Incidental Mutation 'IGL02809:Nfkbid'
| ID |
360509 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfkbid
|
| Ensembl Gene |
ENSMUSG00000036931 |
| Gene Name |
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, delta |
| Synonyms |
IkappaBNS |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL02809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30121157-30128171 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30124660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 7
(T7I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046177]
[ENSMUST00000108175]
[ENSMUST00000108176]
|
| AlphaFold |
Q2TB02 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046177
AA Change: T7I
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042317
Gene: ENSMUSG00000036931
AA Change: T7I
| 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: T7I
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103810
Gene: ENSMUSG00000036931
AA Change: T7I
| 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 benign
Transcript: ENSMUST00000108176
AA Change: T150I
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103811
Gene: ENSMUSG00000036931
AA Change: T150I
| 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 |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camkmt |
A |
T |
17: 85,702,076 (GRCm39) |
N180I |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,246,876 (GRCm39) |
M324T |
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,414,555 (GRCm39) |
|
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,172,546 (GRCm39) |
S349P |
possibly damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,974 (GRCm39) |
S162N |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,168,441 (GRCm39) |
I1601M |
possibly damaging |
Het |
| Fpr-rs3 |
T |
A |
17: 20,844,225 (GRCm39) |
R305S |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,378,416 (GRCm39) |
V178A |
unknown |
Het |
| Itga4 |
A |
G |
2: 79,110,921 (GRCm39) |
Y253C |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,914,645 (GRCm39) |
F655S |
probably damaging |
Het |
| Manba |
A |
G |
3: 135,253,321 (GRCm39) |
D414G |
probably damaging |
Het |
| Ngly1 |
G |
T |
14: 16,281,791 (GRCm38) |
C349F |
probably damaging |
Het |
| Palld |
T |
C |
8: 61,968,281 (GRCm39) |
N1095S |
probably damaging |
Het |
| Sp100 |
C |
T |
1: 85,608,845 (GRCm39) |
R325W |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,491,010 (GRCm39) |
|
probably null |
Het |
| Tle2 |
C |
A |
10: 81,422,196 (GRCm39) |
|
probably null |
Het |
| Tlr13 |
G |
T |
X: 105,200,297 (GRCm39) |
|
probably benign |
Het |
| Ttc32 |
G |
A |
12: 9,085,879 (GRCm39) |
R142Q |
possibly damaging |
Het |
| Ubap2l |
G |
A |
3: 89,928,553 (GRCm39) |
T526M |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,328,150 (GRCm39) |
E124G |
probably benign |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,930 (GRCm39) |
F173L |
probably benign |
Het |
| Xab2 |
T |
C |
8: 3,660,175 (GRCm39) |
S851G |
probably benign |
Het |
| Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
probably benign |
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 |
|
|
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 |
|
R5550:Nfkbid
|
UTSW |
7 |
30,125,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation