Incidental Mutation 'IGL01926:Nfrkb'
ID |
180298 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nfrkb
|
Ensembl Gene |
ENSMUSG00000042185 |
Gene Name |
nuclear factor related to kappa B binding protein |
Synonyms |
A530090G11Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.777)
|
Stock # |
IGL01926
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 31325475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 973
(M973L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086167]
[ENSMUST00000132329]
[ENSMUST00000152593]
|
AlphaFold |
Q6PIJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086167
AA Change: M973L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000083341 Gene: ENSMUSG00000042185 AA Change: M973L
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 |
noncoding transcript
Transcript: ENSMUST00000128375
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132329
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143558
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152593
|
SMART Domains |
Protein: ENSMUSP00000119025 Gene: ENSMUSG00000042185
Domain | Start | End | E-Value | Type |
low complexity region
|
209 |
234 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
T |
11: 110,026,155 (GRCm39) |
|
probably benign |
Het |
Ano1 |
C |
T |
7: 144,164,612 (GRCm39) |
V671M |
possibly damaging |
Het |
Atf7ip2 |
G |
T |
16: 10,059,749 (GRCm39) |
D430Y |
probably damaging |
Het |
Atp7b |
A |
T |
8: 22,501,797 (GRCm39) |
D740E |
probably damaging |
Het |
Bbs1 |
A |
C |
19: 4,952,891 (GRCm39) |
S191A |
probably benign |
Het |
Capn5 |
C |
T |
7: 97,777,679 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
A |
G |
19: 39,791,099 (GRCm39) |
I244T |
probably benign |
Het |
Dsg1a |
G |
T |
18: 20,466,641 (GRCm39) |
D504Y |
possibly damaging |
Het |
Eif3a |
T |
C |
19: 60,758,399 (GRCm39) |
D793G |
unknown |
Het |
Exoc4 |
C |
A |
6: 33,839,077 (GRCm39) |
D704E |
probably damaging |
Het |
Fmo5 |
A |
C |
3: 97,544,797 (GRCm39) |
T109P |
probably damaging |
Het |
Ggt5 |
A |
G |
10: 75,439,935 (GRCm39) |
I179V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Irs1 |
G |
T |
1: 82,267,680 (GRCm39) |
R179S |
probably damaging |
Het |
Jmy |
A |
T |
13: 93,596,294 (GRCm39) |
V445E |
probably damaging |
Het |
Jup |
C |
A |
11: 100,274,412 (GRCm39) |
V93F |
probably benign |
Het |
Krt20 |
T |
C |
11: 99,328,652 (GRCm39) |
Y91C |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,013,063 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
C |
T |
2: 90,965,752 (GRCm39) |
T1188I |
possibly damaging |
Het |
Myt1 |
T |
C |
2: 181,463,790 (GRCm39) |
L1032P |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,436,704 (GRCm39) |
N606K |
probably damaging |
Het |
Or5aq6 |
C |
T |
2: 86,923,318 (GRCm39) |
C141Y |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,480,105 (GRCm39) |
T133S |
possibly damaging |
Het |
Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,471,642 (GRCm39) |
M131K |
probably benign |
Het |
Pomt1 |
T |
A |
2: 32,133,484 (GRCm39) |
S207T |
probably benign |
Het |
Prlr |
T |
A |
15: 10,314,306 (GRCm39) |
M1K |
probably null |
Het |
Prr15 |
A |
G |
6: 54,306,490 (GRCm39) |
K83E |
probably damaging |
Het |
Rnf4 |
A |
G |
5: 34,504,123 (GRCm39) |
N5S |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,357,485 (GRCm39) |
H169L |
probably benign |
Het |
Slc24a5 |
A |
G |
2: 124,910,823 (GRCm39) |
I85V |
probably benign |
Het |
Tmc2 |
T |
C |
2: 130,102,160 (GRCm39) |
I775T |
possibly damaging |
Het |
Trnau1ap |
A |
T |
4: 132,046,873 (GRCm39) |
F141L |
probably benign |
Het |
Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
probably damaging |
Het |
Zswim9 |
A |
T |
7: 12,994,248 (GRCm39) |
V636D |
possibly damaging |
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 |
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 |
R2175:Nfrkb
|
UTSW |
9 |
31,300,310 (GRCm39) |
missense |
possibly damaging |
0.73 |
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 |
|
Posted On |
2014-05-07 |