Incidental Mutation 'IGL01735:Nfrkb'
| ID |
105658 |
| 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? |
Possibly essential
(E-score: 0.729)
|
| Stock # |
IGL01735
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31321435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 711
(S711P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086167]
[ENSMUST00000132329]
[ENSMUST00000152593]
|
| AlphaFold |
Q6PIJ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086167
AA Change: S711P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: S711P
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
T |
12: 4,251,213 (GRCm39) |
M612L |
probably benign |
Het |
| Adhfe1 |
C |
A |
1: 9,618,373 (GRCm39) |
T19K |
possibly damaging |
Het |
| Atxn1 |
C |
T |
13: 45,720,198 (GRCm39) |
V566M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,364,737 (GRCm39) |
|
probably benign |
Het |
| Cdkl1 |
T |
G |
12: 69,797,514 (GRCm39) |
Y258S |
probably benign |
Het |
| Chil6 |
A |
T |
3: 106,296,004 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,370,090 (GRCm39) |
F326L |
probably benign |
Het |
| Cngb3 |
A |
G |
4: 19,415,648 (GRCm39) |
Y386C |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,053,643 (GRCm39) |
E2916* |
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,362,961 (GRCm39) |
E3841G |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,489,276 (GRCm39) |
V3493L |
probably benign |
Het |
| Irx5 |
A |
T |
8: 93,087,331 (GRCm39) |
H421L |
probably damaging |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,889 (GRCm39) |
V465A |
probably damaging |
Het |
| Kcp |
T |
A |
6: 29,498,878 (GRCm39) |
N340I |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,347,053 (GRCm39) |
M73V |
probably benign |
Het |
| Lpar1 |
A |
G |
4: 58,437,407 (GRCm39) |
S341P |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,234,968 (GRCm39) |
V838I |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,170,675 (GRCm39) |
I1652V |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,208,720 (GRCm39) |
D1677V |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,235,127 (GRCm39) |
N935K |
probably benign |
Het |
| Or1j20 |
C |
A |
2: 36,759,698 (GRCm39) |
T40K |
possibly damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,530 (GRCm39) |
F95L |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,576,650 (GRCm39) |
I37V |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
| Prl7d1 |
A |
G |
13: 27,898,372 (GRCm39) |
F47L |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,055,057 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
C |
A |
10: 74,860,992 (GRCm39) |
G103C |
probably damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,763,477 (GRCm39) |
F413S |
probably benign |
Het |
| Slfn9 |
A |
G |
11: 82,873,158 (GRCm39) |
Y582H |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,954,210 (GRCm39) |
|
probably benign |
Het |
| Trac |
G |
A |
14: 54,460,438 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,198,017 (GRCm39) |
V185L |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation