Incidental Mutation 'R6612:Nfrkb'
| ID |
523680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfrkb
|
| Ensembl Gene |
ENSMUSG00000042185 |
| Gene Name |
nuclear factor related to kappa B binding protein |
| Synonyms |
A530090G11Rik |
| MMRRC Submission |
044735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.777)
|
| Stock # |
R6612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 31308302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 216
(L216*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086167]
[ENSMUST00000131540]
[ENSMUST00000132329]
[ENSMUST00000152593]
[ENSMUST00000215211]
|
| AlphaFold |
Q6PIJ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086167
|
| SMART Domains |
Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
| 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: ENSMUST00000131540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150179
|
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215211
AA Change: L216*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215544
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (59/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
C |
1: 159,902,804 (GRCm39) |
N25H |
probably damaging |
Het |
| Akr1c14 |
A |
T |
13: 4,115,331 (GRCm39) |
S87C |
probably benign |
Het |
| Arhgef37 |
T |
C |
18: 61,627,952 (GRCm39) |
T664A |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,528 (GRCm39) |
T73A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,979,960 (GRCm39) |
T274S |
probably benign |
Het |
| Cd244a |
A |
G |
1: 171,401,672 (GRCm39) |
T133A |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Ciz1 |
T |
A |
2: 32,267,323 (GRCm39) |
S720T |
possibly damaging |
Het |
| Cxcr6 |
T |
A |
9: 123,639,785 (GRCm39) |
I262N |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,008,072 (GRCm39) |
F160I |
probably benign |
Het |
| Esrra |
T |
C |
19: 6,889,220 (GRCm39) |
T390A |
probably benign |
Het |
| Gm17079 |
T |
A |
14: 51,931,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Gm17079 |
C |
A |
14: 51,931,832 (GRCm39) |
Q91H |
probably damaging |
Het |
| Got1 |
A |
G |
19: 43,493,242 (GRCm39) |
S256P |
probably damaging |
Het |
| Gria4 |
C |
T |
9: 4,472,206 (GRCm39) |
V428I |
possibly damaging |
Het |
| Grin2b |
A |
G |
6: 135,717,996 (GRCm39) |
Y699H |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,795,808 (GRCm39) |
I154V |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,231,220 (GRCm39) |
E628G |
possibly damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,470,869 (GRCm39) |
|
probably null |
Het |
| Hspbap1 |
T |
G |
16: 35,621,961 (GRCm39) |
L102W |
probably damaging |
Het |
| Iqcb1 |
G |
A |
16: 36,692,023 (GRCm39) |
|
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,784,862 (GRCm39) |
Y763C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,874,897 (GRCm39) |
D418V |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,690,432 (GRCm39) |
D631G |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,408,344 (GRCm39) |
I52V |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,407,189 (GRCm39) |
I1468T |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,743,739 (GRCm39) |
|
probably benign |
Het |
| Mab21l3 |
A |
G |
3: 101,725,961 (GRCm39) |
V345A |
possibly damaging |
Het |
| Marchf10 |
A |
T |
11: 105,287,904 (GRCm39) |
S133T |
probably damaging |
Het |
| Mccc1 |
T |
C |
3: 36,048,079 (GRCm39) |
S115G |
probably benign |
Het |
| Mchr1 |
G |
A |
15: 81,122,071 (GRCm39) |
V274M |
probably damaging |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,783 (GRCm39) |
I48F |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,734,479 (GRCm39) |
F687Y |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,780,102 (GRCm39) |
|
probably benign |
Het |
| Olig2 |
T |
A |
16: 91,023,769 (GRCm39) |
M161K |
probably damaging |
Het |
| Or11h7 |
A |
T |
14: 50,891,090 (GRCm39) |
Y132F |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,210 (GRCm39) |
N141K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,088,031 (GRCm39) |
V738A |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,328,503 (GRCm39) |
S212P |
probably benign |
Het |
| Plk3 |
G |
A |
4: 116,989,934 (GRCm39) |
Q194* |
probably null |
Het |
| Ppp1r36 |
T |
C |
12: 76,484,378 (GRCm39) |
I216T |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,052,081 (GRCm39) |
N2303K |
probably damaging |
Het |
| Rab25 |
G |
A |
3: 88,450,710 (GRCm39) |
T117M |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,619,732 (GRCm39) |
D320E |
possibly damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,821,904 (GRCm39) |
V231A |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,803,140 (GRCm39) |
H1225Y |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,156,758 (GRCm39) |
A470V |
probably benign |
Het |
| Spa17 |
A |
G |
9: 37,517,090 (GRCm39) |
F101S |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,096,791 (GRCm39) |
A217T |
probably benign |
Het |
| Stimate |
T |
A |
14: 30,593,521 (GRCm39) |
|
probably null |
Het |
| Synm |
G |
C |
7: 67,383,264 (GRCm39) |
T1466S |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 53,967,187 (GRCm39) |
E29G |
possibly damaging |
Het |
| Teddm2 |
T |
A |
1: 153,726,191 (GRCm39) |
T175S |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,096 (GRCm39) |
H446L |
possibly damaging |
Het |
| Tpm3-rs7 |
G |
T |
14: 113,552,268 (GRCm39) |
R54L |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,022,926 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,594 (GRCm39) |
S4319P |
possibly damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,317,125 (GRCm39) |
H312Q |
possibly damaging |
Het |
| Zfp462 |
A |
T |
4: 55,012,324 (GRCm39) |
|
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 |
|
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 |
|
|
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'- GACCCCATCACTCTGTTGAAGTC -3'
(R):5'- TGTCAGGCCAAGAATCCAGTC -3'
Sequencing Primer
(F):5'- TGAAGTCTCTCTCCTGGAAGAGC -3'
(R):5'- GGAACTCTCACTTTACACCATGATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation