Incidental Mutation 'IGL01343:Nfrkb'
| ID |
74920 |
| 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? |
Probably essential
(E-score: 0.777)
|
| Stock # |
IGL01343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31300250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 14
(L14I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086167]
[ENSMUST00000131540]
[ENSMUST00000132329]
[ENSMUST00000152593]
[ENSMUST00000215211]
|
| AlphaFold |
Q6PIJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086167
AA Change: L14I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: L14I
| 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 damaging
Transcript: ENSMUST00000131540
AA Change: L14I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132329
AA Change: L14I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134528
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152593
AA Change: L14I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119025
Gene: ENSMUSG00000042185
AA Change: L14I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
209 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215211
AA Change: L14I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
T |
15: 91,033,416 (GRCm39) |
|
probably benign |
Het |
| Adgrf1 |
T |
A |
17: 43,624,086 (GRCm39) |
F835L |
probably null |
Het |
| Akp3 |
G |
T |
1: 87,054,858 (GRCm39) |
|
probably benign |
Het |
| BC106179 |
G |
T |
16: 23,043,037 (GRCm39) |
|
probably benign |
Het |
| Bysl |
C |
A |
17: 47,912,814 (GRCm39) |
M325I |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,055,633 (GRCm39) |
R140G |
probably benign |
Het |
| Cts8 |
T |
C |
13: 61,397,010 (GRCm39) |
|
probably benign |
Het |
| Cxcr4 |
T |
C |
1: 128,517,292 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,812,150 (GRCm39) |
T691A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,915,313 (GRCm39) |
F782I |
probably benign |
Het |
| Efcab5 |
C |
T |
11: 77,020,756 (GRCm39) |
G655D |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,252,570 (GRCm39) |
V381I |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,681,820 (GRCm39) |
Y295* |
probably null |
Het |
| Fbxo28 |
T |
C |
1: 182,144,577 (GRCm39) |
E329G |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,850,127 (GRCm39) |
Q1191R |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 53,013,557 (GRCm39) |
V972D |
probably damaging |
Het |
| Fmr1 |
A |
G |
X: 67,731,901 (GRCm39) |
D22G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,830,163 (GRCm39) |
T6886A |
possibly damaging |
Het |
| Gadl1 |
A |
G |
9: 115,903,180 (GRCm39) |
*503W |
probably null |
Het |
| Gpc6 |
A |
T |
14: 117,424,224 (GRCm39) |
K104I |
possibly damaging |
Het |
| Hecw2 |
T |
A |
1: 53,866,135 (GRCm39) |
T1509S |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,922,586 (GRCm39) |
L680P |
possibly damaging |
Het |
| Lrrc66 |
A |
T |
5: 73,765,806 (GRCm39) |
N412K |
probably damaging |
Het |
| Marco |
C |
T |
1: 120,422,469 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
T |
C |
12: 66,769,883 (GRCm39) |
T206A |
probably damaging |
Het |
| Mogat2 |
C |
A |
7: 98,881,775 (GRCm39) |
A54S |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,976,040 (GRCm39) |
D1369E |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,350,186 (GRCm39) |
S840T |
possibly damaging |
Het |
| Ncor1 |
C |
T |
11: 62,216,312 (GRCm39) |
|
probably null |
Het |
| Notch1 |
C |
A |
2: 26,362,917 (GRCm39) |
A950S |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,410 (GRCm39) |
E1405G |
probably benign |
Het |
| Nsd2 |
C |
A |
5: 34,000,922 (GRCm39) |
D146E |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,761,440 (GRCm39) |
T193A |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,431 (GRCm39) |
V106E |
probably damaging |
Het |
| Or8g50 |
C |
A |
9: 39,649,011 (GRCm39) |
A300D |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,843 (GRCm39) |
K80* |
probably null |
Het |
| Orc2 |
A |
T |
1: 58,532,014 (GRCm39) |
|
probably null |
Het |
| Pacsin2 |
T |
C |
15: 83,270,887 (GRCm39) |
H254R |
probably damaging |
Het |
| Pif1 |
T |
A |
9: 65,496,844 (GRCm39) |
M319K |
probably damaging |
Het |
| Prag1 |
G |
A |
8: 36,570,200 (GRCm39) |
R261H |
possibly damaging |
Het |
| Ptprq |
G |
A |
10: 107,474,700 (GRCm39) |
T1335I |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,490,399 (GRCm39) |
Y3812H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,380,349 (GRCm39) |
Q828* |
probably null |
Het |
| Skint6 |
A |
G |
4: 113,140,823 (GRCm39) |
V6A |
probably benign |
Het |
| Slc16a13 |
A |
G |
11: 70,111,340 (GRCm39) |
I55T |
probably damaging |
Het |
| Slc22a3 |
A |
T |
17: 12,644,516 (GRCm39) |
W490R |
probably damaging |
Het |
| Speer4b |
G |
T |
5: 27,702,881 (GRCm39) |
H208N |
probably benign |
Het |
| Tas2r124 |
T |
C |
6: 132,732,378 (GRCm39) |
L229S |
probably damaging |
Het |
| Tlr4 |
T |
C |
4: 66,752,124 (GRCm39) |
|
probably benign |
Het |
| Tmed1 |
G |
T |
9: 21,421,369 (GRCm39) |
T35K |
probably damaging |
Het |
| Tubgcp5 |
C |
A |
7: 55,445,779 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,052,247 (GRCm39) |
S250P |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 83,011,221 (GRCm39) |
T1085A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,879,283 (GRCm39) |
I1698V |
probably benign |
Het |
| Zswim8 |
G |
T |
14: 20,763,409 (GRCm39) |
W385C |
probably damaging |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation