Incidental Mutation 'R4727:Nfrkb'
ID |
358539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfrkb
|
Ensembl Gene |
ENSMUSG00000042185 |
Gene Name |
nuclear factor related to kappa B binding protein |
Synonyms |
A530090G11Rik |
MMRRC Submission |
041602-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.729)
|
Stock # |
R4727 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31314919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 580
(S580P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086167]
[ENSMUST00000132329]
[ENSMUST00000152593]
[ENSMUST00000215211]
|
AlphaFold |
Q6PIJ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086167
AA Change: S580P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000083341 Gene: ENSMUSG00000042185 AA Change: S580P
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
T |
C |
15: 91,062,489 (GRCm39) |
N483S |
probably benign |
Het |
Acoxl |
T |
G |
2: 127,820,658 (GRCm39) |
L70R |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,706,576 (GRCm39) |
F627I |
probably benign |
Het |
Ash2l |
A |
T |
8: 26,308,623 (GRCm39) |
I552N |
probably damaging |
Het |
B4galt1 |
A |
G |
4: 40,807,812 (GRCm39) |
S330P |
probably damaging |
Het |
Bnip3 |
T |
C |
7: 138,500,435 (GRCm39) |
S52G |
probably damaging |
Het |
Btd |
A |
G |
14: 31,384,278 (GRCm39) |
Q88R |
probably benign |
Het |
C4bp |
A |
G |
1: 130,566,922 (GRCm39) |
V318A |
probably benign |
Het |
Cacna1e |
G |
A |
1: 154,312,214 (GRCm39) |
Q1530* |
probably null |
Het |
Calm1 |
T |
C |
12: 100,166,485 (GRCm39) |
F23S |
probably benign |
Het |
Cep290 |
T |
G |
10: 100,399,132 (GRCm39) |
I2218R |
probably benign |
Het |
Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
Cyp2d9 |
T |
C |
15: 82,338,602 (GRCm39) |
L1P |
probably null |
Het |
Dgki |
C |
A |
6: 37,276,748 (GRCm39) |
|
probably benign |
Het |
Dhh |
A |
G |
15: 98,796,023 (GRCm39) |
L44P |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,594,274 (GRCm39) |
I3409V |
probably damaging |
Het |
Dnah7b |
G |
A |
1: 46,246,816 (GRCm39) |
R1664H |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 31,070,721 (GRCm39) |
M4469T |
probably damaging |
Het |
Ehhadh |
T |
C |
16: 21,581,181 (GRCm39) |
I604V |
probably benign |
Het |
Esr1 |
A |
G |
10: 4,951,418 (GRCm39) |
I599V |
probably benign |
Het |
Faf1 |
G |
A |
4: 109,697,564 (GRCm39) |
D297N |
probably damaging |
Het |
Gfra1 |
A |
T |
19: 58,252,386 (GRCm39) |
N380K |
probably damaging |
Het |
Ghitm |
A |
G |
14: 36,855,700 (GRCm39) |
C8R |
probably damaging |
Het |
Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
Itsn2 |
A |
G |
12: 4,757,660 (GRCm39) |
Y1424C |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,197,266 (GRCm39) |
D260G |
probably damaging |
Het |
Klf16 |
T |
C |
10: 80,405,020 (GRCm39) |
D164G |
probably damaging |
Het |
Klhdc7b |
T |
A |
15: 89,271,785 (GRCm39) |
L889Q |
probably damaging |
Het |
Lcmt2 |
C |
G |
2: 120,969,911 (GRCm39) |
V171L |
probably benign |
Het |
Lrp11 |
A |
G |
10: 7,466,348 (GRCm39) |
E153G |
probably benign |
Het |
Lrrc43 |
A |
T |
5: 123,632,366 (GRCm39) |
T170S |
probably damaging |
Het |
Lsr |
T |
C |
7: 30,665,465 (GRCm39) |
Y163C |
probably damaging |
Het |
Man1a |
A |
T |
10: 53,783,668 (GRCm39) |
|
probably null |
Het |
Mmp24 |
C |
T |
2: 155,657,819 (GRCm39) |
P570S |
possibly damaging |
Het |
Ms4a3 |
A |
G |
19: 11,608,742 (GRCm39) |
M170T |
probably damaging |
Het |
Naip5 |
C |
A |
13: 100,358,378 (GRCm39) |
A953S |
possibly damaging |
Het |
Or51q1c |
T |
G |
7: 103,653,097 (GRCm39) |
V205G |
probably benign |
Het |
Or8b38 |
T |
C |
9: 37,973,389 (GRCm39) |
Y258H |
probably damaging |
Het |
Padi6 |
T |
G |
4: 140,458,506 (GRCm39) |
D462A |
probably damaging |
Het |
Pde6a |
A |
G |
18: 61,364,561 (GRCm39) |
R206G |
probably benign |
Het |
Plk4 |
A |
G |
3: 40,759,589 (GRCm39) |
N162D |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,717,721 (GRCm39) |
D1922E |
probably benign |
Het |
Rangap1 |
G |
A |
15: 81,613,956 (GRCm39) |
|
probably benign |
Het |
Rapgef3 |
A |
G |
15: 97,658,481 (GRCm39) |
L175P |
probably damaging |
Het |
Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
Satb1 |
T |
C |
17: 52,111,375 (GRCm39) |
Y161C |
probably damaging |
Het |
Sel1l3 |
C |
A |
5: 53,301,525 (GRCm39) |
|
probably null |
Het |
Slc17a7 |
C |
T |
7: 44,822,358 (GRCm39) |
S398L |
possibly damaging |
Het |
Slc22a4 |
T |
A |
11: 53,918,477 (GRCm39) |
E109V |
possibly damaging |
Het |
Slc26a7 |
C |
T |
4: 14,590,477 (GRCm39) |
A105T |
probably damaging |
Het |
Slc47a1 |
T |
C |
11: 61,254,277 (GRCm39) |
N145S |
possibly damaging |
Het |
Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
Tefm |
T |
C |
11: 80,031,279 (GRCm39) |
|
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,575,851 (GRCm39) |
Y1042C |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,077,894 (GRCm39) |
Q892R |
probably damaging |
Het |
Wdr33 |
T |
A |
18: 32,021,500 (GRCm39) |
H683Q |
unknown |
Het |
Zfp36l2 |
T |
A |
17: 84,495,089 (GRCm39) |
I12F |
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,291,170 (GRCm39) |
M2145K |
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 |
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'- GGGATCGATCTAGGGAGAACTC -3'
(R):5'- GTAGAATCCACCCTGACATCTCTC -3'
Sequencing Primer
(F):5'- GAGAACTCCACTAATTCTGAAATAGC -3'
(R):5'- CTGACATCTCTCAGCTTTGAAAAC -3'
|
Posted On |
2015-11-11 |