Incidental Mutation 'R6543:Nfrkb'
| ID |
520941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfrkb
|
| Ensembl Gene |
ENSMUSG00000042185 |
| Gene Name |
nuclear factor related to kappa B binding protein |
| Synonyms |
A530090G11Rik |
| MMRRC Submission |
044669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.777)
|
| Stock # |
R6543 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 31312281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 456
(Q456*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086167]
[ENSMUST00000132329]
[ENSMUST00000152593]
[ENSMUST00000215211]
|
| AlphaFold |
Q6PIJ4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086167
AA Change: Q456*
|
| SMART Domains |
Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: Q456*
| 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: 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 benign
Transcript: ENSMUST00000215211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215544
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,908,525 (GRCm39) |
V1091A |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,640,715 (GRCm39) |
N1320D |
probably benign |
Het |
| Atl3 |
T |
A |
19: 7,487,463 (GRCm39) |
F126Y |
probably damaging |
Het |
| Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
| Cplane2 |
T |
G |
4: 140,944,599 (GRCm39) |
V50G |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,709,481 (GRCm39) |
T331A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,911,497 (GRCm39) |
V494A |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,407,552 (GRCm39) |
P244S |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,220,825 (GRCm39) |
N126S |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,197,493 (GRCm39) |
S629P |
unknown |
Het |
| Grip1 |
T |
C |
10: 119,821,499 (GRCm39) |
L389P |
probably benign |
Het |
| Igkv4-91 |
A |
T |
6: 68,745,582 (GRCm39) |
D105E |
probably damaging |
Het |
| Il20ra |
G |
A |
10: 19,625,071 (GRCm39) |
A117T |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,784,170 (GRCm39) |
V367A |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,306,455 (GRCm39) |
V47M |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,300,682 (GRCm39) |
Y220C |
probably damaging |
Het |
| Lims1 |
T |
A |
10: 58,248,273 (GRCm39) |
C243* |
probably null |
Het |
| Man1a |
C |
A |
10: 53,811,077 (GRCm39) |
G435* |
probably null |
Het |
| Msantd5f4 |
A |
G |
4: 73,557,215 (GRCm39) |
E16G |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,053 (GRCm39) |
I2250N |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,588,534 (GRCm39) |
Q135* |
probably null |
Het |
| Nbeal2 |
A |
T |
9: 110,473,526 (GRCm39) |
D76E |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,605 (GRCm39) |
S669P |
probably benign |
Het |
| Or6c3b |
C |
A |
10: 129,527,859 (GRCm39) |
G17V |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,275 (GRCm39) |
A1557T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
T |
A |
2: 132,215,819 (GRCm39) |
Q53L |
probably benign |
Het |
| Pxmp4 |
C |
A |
2: 154,429,979 (GRCm39) |
A137S |
possibly damaging |
Het |
| Rasef |
C |
T |
4: 73,698,756 (GRCm39) |
|
probably benign |
Het |
| Scpppq1 |
T |
C |
5: 104,222,741 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
C |
T |
2: 151,935,063 (GRCm39) |
A72V |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,177,101 (GRCm39) |
E1171G |
possibly damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,375 (GRCm39) |
T923A |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,078,872 (GRCm39) |
K141R |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,849,492 (GRCm39) |
|
probably null |
Het |
| Sympk |
A |
T |
7: 18,770,755 (GRCm39) |
H282L |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,751,677 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,577,600 (GRCm39) |
N170S |
possibly damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,666,219 (GRCm39) |
M1T |
probably null |
Het |
| Trim66 |
A |
G |
7: 109,075,086 (GRCm39) |
S392P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,599,155 (GRCm39) |
T10958A |
probably damaging |
Het |
| Ubr7 |
A |
G |
12: 102,734,494 (GRCm39) |
K256R |
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 |
|
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'- CCATTTTCATCAGACACACCTTAG -3'
(R):5'- TTCCTCCTCAGAAACGCTAAGG -3'
Sequencing Primer
(F):5'- AAACCAACTCGAGCTGTG -3'
(R):5'- GATTCCTCTCATCAAGGAAA -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation