Incidental Mutation 'R2175:Nfrkb'
ID |
236831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfrkb
|
Ensembl Gene |
ENSMUSG00000042185 |
Gene Name |
nuclear factor related to kappa B binding protein |
Synonyms |
A530090G11Rik |
MMRRC Submission |
040177-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.729)
|
Stock # |
R2175 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31300310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 34
(T34A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119622
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086167]
[ENSMUST00000131540]
[ENSMUST00000132329]
[ENSMUST00000152593]
[ENSMUST00000215211]
|
AlphaFold |
Q6PIJ4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086167
AA Change: T34A
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000083341 Gene: ENSMUSG00000042185 AA Change: T34A
Domain | Start | End | E-Value | Type |
low complexity region
|
209 |
234 |
N/A |
INTRINSIC |
coiled coil region
|
304 |
335 |
N/A |
INTRINSIC |
Pfam:NFRKB_winged
|
379 |
478 |
4.5e-35 |
PFAM |
low complexity region
|
663 |
690 |
N/A |
INTRINSIC |
low complexity region
|
700 |
740 |
N/A |
INTRINSIC |
internal_repeat_1
|
879 |
953 |
2.02e-5 |
PROSPERO |
low complexity region
|
1016 |
1034 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
internal_repeat_1
|
1128 |
1201 |
2.02e-5 |
PROSPERO |
low complexity region
|
1239 |
1255 |
N/A |
INTRINSIC |
low complexity region
|
1269 |
1290 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131540
AA Change: T34A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132329
AA Change: T34A
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134528
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152593
AA Change: T34A
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000119025 Gene: ENSMUSG00000042185 AA Change: T34A
Domain | Start | End | E-Value | Type |
low complexity region
|
209 |
234 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215211
AA Change: T34A
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
A |
8: 44,078,475 (GRCm39) |
Y583F |
probably benign |
Het |
Adra2a |
A |
G |
19: 54,034,793 (GRCm39) |
T50A |
probably benign |
Het |
Alox8 |
T |
C |
11: 69,078,592 (GRCm39) |
Y367C |
possibly damaging |
Het |
Ankfn1 |
A |
G |
11: 89,417,363 (GRCm39) |
L83P |
probably damaging |
Het |
Asxl3 |
T |
C |
18: 22,649,652 (GRCm39) |
L547P |
probably benign |
Het |
Cox10 |
G |
A |
11: 63,962,475 (GRCm39) |
A122V |
probably benign |
Het |
Cttnbp2 |
A |
C |
6: 18,434,828 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
T |
12: 98,842,482 (GRCm39) |
C205* |
probably null |
Het |
Ephx3 |
T |
A |
17: 32,407,433 (GRCm39) |
T204S |
possibly damaging |
Het |
Evi5l |
A |
G |
8: 4,237,269 (GRCm39) |
H124R |
probably damaging |
Het |
Ext1 |
G |
T |
15: 52,932,124 (GRCm39) |
P726Q |
probably damaging |
Het |
Fam151b |
T |
C |
13: 92,614,426 (GRCm39) |
R21G |
probably damaging |
Het |
Hdac1 |
G |
A |
4: 129,428,463 (GRCm39) |
R36C |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,424,029 (GRCm39) |
Y715H |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,583,328 (GRCm39) |
F144S |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,622,576 (GRCm39) |
I452N |
probably benign |
Het |
Mok |
T |
C |
12: 110,781,634 (GRCm39) |
H6R |
probably benign |
Het |
Myef2 |
A |
T |
2: 124,940,375 (GRCm39) |
M392K |
probably damaging |
Het |
Ncoa2 |
G |
A |
1: 13,294,837 (GRCm39) |
P28S |
probably damaging |
Het |
Nkx1-1 |
G |
A |
5: 33,588,598 (GRCm39) |
A230V |
probably benign |
Het |
Or10ag2 |
T |
A |
2: 87,248,500 (GRCm39) |
L34H |
probably damaging |
Het |
Or5an1b |
T |
A |
19: 12,299,885 (GRCm39) |
Y102F |
probably damaging |
Het |
Ryr1 |
T |
G |
7: 28,767,867 (GRCm39) |
K2890T |
probably damaging |
Het |
Siae |
G |
T |
9: 37,539,092 (GRCm39) |
D168Y |
probably damaging |
Het |
Smarcc1 |
A |
T |
9: 109,993,877 (GRCm39) |
T241S |
possibly damaging |
Het |
Steap2 |
T |
A |
5: 5,723,501 (GRCm39) |
I460F |
probably damaging |
Het |
Strap |
A |
G |
6: 137,727,590 (GRCm39) |
T345A |
probably benign |
Het |
Tex2 |
A |
G |
11: 106,394,513 (GRCm39) |
V1099A |
unknown |
Het |
Thsd7a |
T |
C |
6: 12,331,943 (GRCm39) |
T1290A |
possibly damaging |
Het |
Unc80 |
G |
A |
1: 66,716,514 (GRCm39) |
G2878D |
probably damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,583,004 (GRCm39) |
|
probably null |
Het |
Xirp2 |
C |
T |
2: 67,340,258 (GRCm39) |
T833I |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,955,153 (GRCm39) |
S615P |
probably damaging |
Het |
Zfp148 |
C |
G |
16: 33,317,116 (GRCm39) |
S554* |
probably null |
Het |
|
Other mutations in Nfrkb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00688:Nfrkb
|
APN |
9 |
31,300,345 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01343:Nfrkb
|
APN |
9 |
31,300,250 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01363:Nfrkb
|
APN |
9 |
31,325,667 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01647:Nfrkb
|
APN |
9 |
31,307,801 (GRCm39) |
splice site |
probably benign |
|
IGL01655:Nfrkb
|
APN |
9 |
31,314,755 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01735:Nfrkb
|
APN |
9 |
31,321,435 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01926:Nfrkb
|
APN |
9 |
31,325,475 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01929:Nfrkb
|
APN |
9 |
31,331,169 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02095:Nfrkb
|
APN |
9 |
31,322,527 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02370:Nfrkb
|
APN |
9 |
31,300,308 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02525:Nfrkb
|
APN |
9 |
31,325,812 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0325:Nfrkb
|
UTSW |
9 |
31,325,476 (GRCm39) |
missense |
probably benign |
0.06 |
R0390:Nfrkb
|
UTSW |
9 |
31,300,193 (GRCm39) |
start gained |
probably benign |
|
R0558:Nfrkb
|
UTSW |
9 |
31,321,564 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0670:Nfrkb
|
UTSW |
9 |
31,331,469 (GRCm39) |
missense |
probably benign |
0.33 |
R1329:Nfrkb
|
UTSW |
9 |
31,325,943 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1729:Nfrkb
|
UTSW |
9 |
31,325,932 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Nfrkb
|
UTSW |
9 |
31,325,932 (GRCm39) |
missense |
probably benign |
0.00 |
R1894:Nfrkb
|
UTSW |
9 |
31,326,064 (GRCm39) |
missense |
probably benign |
0.02 |
R1975:Nfrkb
|
UTSW |
9 |
31,325,980 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2022:Nfrkb
|
UTSW |
9 |
31,322,546 (GRCm39) |
missense |
probably benign |
0.04 |
R3793:Nfrkb
|
UTSW |
9 |
31,321,228 (GRCm39) |
splice site |
probably benign |
|
R4020:Nfrkb
|
UTSW |
9 |
31,325,407 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4425:Nfrkb
|
UTSW |
9 |
31,311,258 (GRCm39) |
missense |
probably damaging |
0.99 |
R4727:Nfrkb
|
UTSW |
9 |
31,314,919 (GRCm39) |
missense |
probably damaging |
0.99 |
R4730:Nfrkb
|
UTSW |
9 |
31,321,547 (GRCm39) |
missense |
probably benign |
0.33 |
R4775:Nfrkb
|
UTSW |
9 |
31,330,345 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5032:Nfrkb
|
UTSW |
9 |
31,300,351 (GRCm39) |
splice site |
probably null |
|
R5532:Nfrkb
|
UTSW |
9 |
31,309,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R5635:Nfrkb
|
UTSW |
9 |
31,310,594 (GRCm39) |
missense |
probably damaging |
0.98 |
R5712:Nfrkb
|
UTSW |
9 |
31,325,932 (GRCm39) |
missense |
probably benign |
0.00 |
R5720:Nfrkb
|
UTSW |
9 |
31,306,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R6448:Nfrkb
|
UTSW |
9 |
31,306,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R6543:Nfrkb
|
UTSW |
9 |
31,312,281 (GRCm39) |
nonsense |
probably null |
|
R6612:Nfrkb
|
UTSW |
9 |
31,308,302 (GRCm39) |
nonsense |
probably null |
|
R7087:Nfrkb
|
UTSW |
9 |
31,331,228 (GRCm39) |
nonsense |
probably null |
|
R7123:Nfrkb
|
UTSW |
9 |
31,325,311 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7483:Nfrkb
|
UTSW |
9 |
31,325,328 (GRCm39) |
nonsense |
probably null |
|
R7875:Nfrkb
|
UTSW |
9 |
31,321,450 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8336:Nfrkb
|
UTSW |
9 |
31,314,815 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8370:Nfrkb
|
UTSW |
9 |
31,316,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R8427:Nfrkb
|
UTSW |
9 |
31,330,323 (GRCm39) |
missense |
probably benign |
0.01 |
R8518:Nfrkb
|
UTSW |
9 |
31,311,261 (GRCm39) |
missense |
probably damaging |
0.99 |
R9607:Nfrkb
|
UTSW |
9 |
31,326,066 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9627:Nfrkb
|
UTSW |
9 |
31,321,189 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9679:Nfrkb
|
UTSW |
9 |
31,321,385 (GRCm39) |
missense |
probably benign |
|
T0975:Nfrkb
|
UTSW |
9 |
31,308,379 (GRCm39) |
missense |
probably benign |
0.04 |
Z1088:Nfrkb
|
UTSW |
9 |
31,322,629 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCATCCATCTGATCTCTGC -3'
(R):5'- ACTCCTGACTAGAAGGTTACCATATG -3'
Sequencing Primer
(F):5'- AGCATCCATCTGATCTCTGCTTTCC -3'
(R):5'- CACACACAAATCAATCTGGGTTTG -3'
|
Posted On |
2014-10-02 |