Incidental Mutation 'R9679:Nfrkb'
ID |
728418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfrkb
|
Ensembl Gene |
ENSMUSG00000042185 |
Gene Name |
nuclear factor related to kappa B binding protein |
Synonyms |
A530090G11Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.729)
|
Stock # |
R9679 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31321385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 694
(T694M)
|
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: T694M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083341 Gene: ENSMUSG00000042185 AA Change: T694M
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 |
probably benign
Transcript: ENSMUST00000132329
|
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
T |
A |
12: 113,509,542 (GRCm39) |
N638K |
probably benign |
Het |
Arid5a |
A |
G |
1: 36,357,648 (GRCm39) |
K188E |
possibly damaging |
Het |
Atp11a |
T |
C |
8: 12,909,388 (GRCm39) |
I1082T |
possibly damaging |
Het |
Bdp1 |
T |
A |
13: 100,180,285 (GRCm39) |
I1845F |
probably damaging |
Het |
Ccdc87 |
A |
C |
19: 4,891,299 (GRCm39) |
E597A |
probably benign |
Het |
Cfap53 |
A |
T |
18: 74,492,656 (GRCm39) |
Q460L |
possibly damaging |
Het |
Clcn1 |
G |
A |
6: 42,263,753 (GRCm39) |
S18N |
probably damaging |
Het |
Cntnap3 |
C |
A |
13: 64,899,562 (GRCm39) |
C977F |
probably damaging |
Het |
Colec11 |
C |
A |
12: 28,644,829 (GRCm39) |
V222L |
probably benign |
Het |
Dchs2 |
G |
T |
3: 83,261,697 (GRCm39) |
S2655I |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,037,115 (GRCm39) |
T4227A |
probably benign |
Het |
Dock5 |
G |
A |
14: 68,018,450 (GRCm39) |
R1242W |
probably damaging |
Het |
Ebf3 |
T |
A |
7: 136,832,964 (GRCm39) |
N237I |
possibly damaging |
Het |
F2rl3 |
T |
A |
8: 73,489,661 (GRCm39) |
L296Q |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,201,433 (GRCm39) |
I1328T |
probably damaging |
Het |
Fes |
T |
C |
7: 80,033,050 (GRCm39) |
E258G |
probably benign |
Het |
Gins4 |
G |
A |
8: 23,717,132 (GRCm39) |
A212V |
probably damaging |
Het |
Il15 |
T |
C |
8: 83,071,094 (GRCm39) |
Y7C |
probably benign |
Het |
Il9r |
T |
G |
11: 32,140,853 (GRCm39) |
H395P |
probably benign |
Het |
Jade1 |
T |
C |
3: 41,567,569 (GRCm39) |
S546P |
probably damaging |
Het |
Krt72 |
C |
T |
15: 101,685,152 (GRCm39) |
G469D |
probably damaging |
Het |
Limd1 |
T |
A |
9: 123,308,457 (GRCm39) |
M52K |
probably damaging |
Het |
Mamdc2 |
T |
C |
19: 23,351,380 (GRCm39) |
N182S |
probably benign |
Het |
Mrpl14 |
A |
G |
17: 46,009,240 (GRCm39) |
N113S |
probably damaging |
Het |
Ms4a14 |
A |
G |
19: 11,280,048 (GRCm39) |
S837P |
possibly damaging |
Het |
Mtrex |
A |
G |
13: 113,032,055 (GRCm39) |
S586P |
probably damaging |
Het |
Muc21 |
A |
G |
17: 35,930,491 (GRCm39) |
S1232P |
unknown |
Het |
Myh11 |
A |
T |
16: 14,095,436 (GRCm39) |
Y109N |
|
Het |
Nlrp4b |
T |
G |
7: 10,449,184 (GRCm39) |
S462R |
probably benign |
Het |
Or4k37 |
A |
G |
2: 111,159,345 (GRCm39) |
T194A |
probably benign |
Het |
Or52e2 |
T |
C |
7: 102,804,652 (GRCm39) |
I101V |
probably benign |
Het |
Or5g9 |
T |
A |
2: 85,552,482 (GRCm39) |
H244Q |
probably damaging |
Het |
Or5h19 |
A |
G |
16: 58,856,521 (GRCm39) |
L193P |
possibly damaging |
Het |
Or6c76 |
A |
G |
10: 129,611,882 (GRCm39) |
Y33C |
probably damaging |
Het |
Rasip1 |
T |
C |
7: 45,277,327 (GRCm39) |
V45A |
possibly damaging |
Het |
Rgs22 |
A |
G |
15: 36,087,587 (GRCm39) |
S568P |
probably benign |
Het |
Sephs1 |
T |
A |
2: 4,898,105 (GRCm39) |
L172Q |
probably damaging |
Het |
Slc16a3 |
T |
C |
11: 120,847,223 (GRCm39) |
L137P |
probably damaging |
Het |
Slc22a4 |
T |
C |
11: 53,881,599 (GRCm39) |
Y373C |
probably damaging |
Het |
Snx1 |
T |
C |
9: 65,998,002 (GRCm39) |
D410G |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Stam2 |
G |
T |
2: 52,606,582 (GRCm39) |
A101D |
probably damaging |
Het |
Surf4 |
A |
G |
2: 26,814,364 (GRCm39) |
F179S |
probably benign |
Het |
Taf8 |
C |
T |
17: 47,801,101 (GRCm39) |
R294Q |
unknown |
Het |
Tnr |
A |
G |
1: 159,719,608 (GRCm39) |
T962A |
probably benign |
Het |
Tpx2 |
T |
A |
2: 152,711,618 (GRCm39) |
I51K |
possibly damaging |
Het |
Traf7 |
CA |
CAA |
17: 24,746,737 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,394,369 (GRCm39) |
Y2305N |
|
Het |
Vil1 |
C |
A |
1: 74,469,833 (GRCm39) |
Q740K |
probably benign |
Het |
Vmn1r236 |
T |
C |
17: 21,507,286 (GRCm39) |
F135L |
possibly damaging |
Het |
Vmn1r57 |
A |
C |
7: 5,224,230 (GRCm39) |
I252L |
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,460,741 (GRCm39) |
L689P |
probably benign |
Het |
Wdr1 |
A |
G |
5: 38,685,216 (GRCm39) |
L585P |
probably damaging |
Het |
Wdr6 |
T |
C |
9: 108,450,358 (GRCm39) |
I1057V |
probably benign |
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 |
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 |
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'- CGGATTCATCAAGCTCAAGCAG -3'
(R):5'- TACCCTGAACTAGACTGGGC -3'
Sequencing Primer
(F):5'- AAGCCGCCATCCAAGGTG -3'
(R):5'- TGAACTAGACTGGGCTGGCTC -3'
|
Posted On |
2022-10-06 |