Incidental Mutation 'IGL01363:Nfrkb'
| ID |
75834 |
| 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 # |
IGL01363
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31325667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1037
(T1037A)
|
| 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: T1037A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: T1037A
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,483 (GRCm39) |
F23S |
probably damaging |
Het |
| Abcg3 |
A |
G |
5: 105,096,228 (GRCm39) |
V528A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,705,184 (GRCm39) |
V1542A |
probably damaging |
Het |
| Alkbh3 |
A |
G |
2: 93,833,396 (GRCm39) |
|
probably null |
Het |
| Ang4 |
G |
T |
14: 52,001,636 (GRCm39) |
T104K |
probably benign |
Het |
| Arhgef3 |
T |
A |
14: 27,123,876 (GRCm39) |
C532* |
probably null |
Het |
| Bnip3 |
G |
A |
7: 138,499,777 (GRCm39) |
T70I |
probably benign |
Het |
| Cast |
T |
C |
13: 74,852,311 (GRCm39) |
E644G |
possibly damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,194,390 (GRCm39) |
C125* |
probably null |
Het |
| Crb2 |
C |
A |
2: 37,683,845 (GRCm39) |
R1116S |
probably benign |
Het |
| Cyp2c67 |
T |
G |
19: 39,628,411 (GRCm39) |
I178L |
probably damaging |
Het |
| Cyp2c68 |
T |
A |
19: 39,691,871 (GRCm39) |
M351L |
probably benign |
Het |
| Dusp1 |
G |
A |
17: 26,725,264 (GRCm39) |
P365L |
probably damaging |
Het |
| Gatb |
T |
C |
3: 85,559,652 (GRCm39) |
L492P |
probably damaging |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,083 (GRCm39) |
S48G |
probably damaging |
Het |
| Isyna1 |
G |
A |
8: 71,047,372 (GRCm39) |
V32I |
probably damaging |
Het |
| Itgb6 |
T |
A |
2: 60,441,726 (GRCm39) |
N695Y |
possibly damaging |
Het |
| Klra8 |
T |
C |
6: 130,092,561 (GRCm39) |
T247A |
probably benign |
Het |
| Mak |
G |
A |
13: 41,206,853 (GRCm39) |
|
probably benign |
Het |
| Minar2 |
G |
A |
18: 59,205,380 (GRCm39) |
G98D |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,685,022 (GRCm39) |
T516S |
possibly damaging |
Het |
| Mphosph9 |
G |
T |
5: 124,400,084 (GRCm39) |
T939K |
probably damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or8c9 |
A |
G |
9: 38,240,999 (GRCm39) |
T39A |
probably benign |
Het |
| Pard3b |
A |
G |
1: 62,676,799 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,760,877 (GRCm39) |
V250M |
probably damaging |
Het |
| Pgap2 |
T |
G |
7: 101,875,489 (GRCm39) |
M1R |
probably null |
Het |
| Phlpp2 |
T |
C |
8: 110,663,729 (GRCm39) |
F923L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,925,470 (GRCm39) |
M739K |
probably benign |
Het |
| Pramel1 |
A |
G |
4: 143,123,955 (GRCm39) |
Y210C |
probably benign |
Het |
| Pramel27 |
A |
T |
4: 143,579,846 (GRCm39) |
Y477F |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,977,780 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
C |
T |
1: 6,320,333 (GRCm39) |
L1251F |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,042,238 (GRCm39) |
Y238F |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,088,852 (GRCm39) |
L534P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,952,713 (GRCm39) |
F1540L |
possibly damaging |
Het |
| Tmem200b |
C |
A |
4: 131,649,704 (GRCm39) |
P208Q |
probably benign |
Het |
| Tmem236 |
T |
C |
2: 14,179,441 (GRCm39) |
L14P |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 88,991,728 (GRCm39) |
I623N |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,020 (GRCm39) |
N173D |
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 |
|
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