Incidental Mutation 'R7875:Nfrkb'
| ID |
608383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfrkb
|
| Ensembl Gene |
ENSMUSG00000042185 |
| Gene Name |
nuclear factor related to kappa B binding protein |
| Synonyms |
A530090G11Rik |
| MMRRC Submission |
045927-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.777)
|
| Stock # |
R7875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
31297488-31332629 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31321450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 716
(T716A)
|
| 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: T716A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: T716A
| 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 benign
Transcript: ENSMUST00000132329
|
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,958,459 (GRCm39) |
F102I |
probably damaging |
Het |
| Acp7 |
A |
T |
7: 28,314,152 (GRCm39) |
Y348N |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,099,016 (GRCm39) |
D174V |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,791,161 (GRCm39) |
T801A |
possibly damaging |
Het |
| Aldh1a7 |
A |
C |
19: 20,693,343 (GRCm39) |
V192G |
possibly damaging |
Het |
| Anp32b |
T |
G |
4: 46,451,301 (GRCm39) |
D2E |
probably benign |
Het |
| Arhgef11 |
A |
T |
3: 87,591,808 (GRCm39) |
D53V |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,964,771 (GRCm39) |
N300S |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,618,389 (GRCm39) |
N328S |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,382,872 (GRCm39) |
Q68L |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ccser1 |
A |
T |
6: 61,288,932 (GRCm39) |
H365L |
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,518,500 (GRCm39) |
N213K |
unknown |
Het |
| Col7a1 |
T |
C |
9: 108,787,763 (GRCm39) |
V681A |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,239,446 (GRCm39) |
I1216V |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,863,396 (GRCm39) |
Y792* |
probably null |
Het |
| Fam241b |
A |
T |
10: 61,970,271 (GRCm39) |
S10R |
|
Het |
| Gab1 |
C |
T |
8: 81,515,395 (GRCm39) |
D308N |
probably damaging |
Het |
| Gdf11 |
C |
T |
10: 128,722,210 (GRCm39) |
R215H |
probably benign |
Het |
| Gpc1 |
T |
C |
1: 92,782,970 (GRCm39) |
|
probably null |
Het |
| Hnf4a |
G |
T |
2: 163,400,980 (GRCm39) |
E200* |
probably null |
Het |
| Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,664,806 (GRCm39) |
T213A |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,501,385 (GRCm39) |
D917G |
probably damaging |
Het |
| Kdm5a |
C |
A |
6: 120,375,979 (GRCm39) |
Y578* |
probably null |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,343 (GRCm39) |
T252S |
possibly damaging |
Het |
| Mamdc4 |
C |
T |
2: 25,458,677 (GRCm39) |
W305* |
probably null |
Het |
| Mzb1 |
A |
G |
18: 35,780,913 (GRCm39) |
I125T |
possibly damaging |
Het |
| Or2ad1 |
T |
A |
13: 21,327,093 (GRCm39) |
I45F |
probably damaging |
Het |
| Or4f6 |
A |
G |
2: 111,839,192 (GRCm39) |
V113A |
probably benign |
Het |
| Or52r1b |
A |
G |
7: 102,691,060 (GRCm39) |
M120V |
probably damaging |
Het |
| Or8k16 |
G |
A |
2: 85,519,838 (GRCm39) |
E22K |
probably benign |
Het |
| Plcxd2 |
G |
A |
16: 45,830,065 (GRCm39) |
A52V |
possibly damaging |
Het |
| Poteg |
C |
T |
8: 27,939,942 (GRCm39) |
P95L |
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,773,804 (GRCm39) |
Y322* |
probably null |
Het |
| Rab11fip2 |
G |
C |
19: 59,925,655 (GRCm39) |
I187M |
possibly damaging |
Het |
| Ranbp2 |
G |
T |
10: 58,314,277 (GRCm39) |
E1666* |
probably null |
Het |
| Rin3 |
T |
C |
12: 102,335,735 (GRCm39) |
S549P |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,464,508 (GRCm39) |
|
probably null |
Het |
| Scn3a |
A |
G |
2: 65,327,826 (GRCm39) |
F888S |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,034,528 (GRCm39) |
I96N |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,936,723 (GRCm39) |
C128S |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,123,456 (GRCm39) |
S3185G |
possibly damaging |
Het |
| Syde2 |
A |
G |
3: 145,726,020 (GRCm39) |
E1304G |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,841,680 (GRCm39) |
I199V |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,327,899 (GRCm39) |
V536E |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 40,469,097 (GRCm39) |
K309R |
probably damaging |
Het |
| Thra |
A |
T |
11: 98,659,257 (GRCm39) |
D462V |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,578,652 (GRCm39) |
T521A |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,619,884 (GRCm39) |
N265S |
possibly damaging |
Het |
| Upk3b |
A |
T |
5: 136,069,057 (GRCm39) |
Y142F |
probably benign |
Het |
| Vmn1r219 |
T |
C |
13: 23,347,363 (GRCm39) |
V184A |
possibly damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,753 (GRCm39) |
D159G |
probably damaging |
Het |
| Vnn3 |
C |
A |
10: 23,743,146 (GRCm39) |
A452D |
possibly damaging |
Het |
| Wscd1 |
T |
A |
11: 71,679,560 (GRCm39) |
Y478N |
probably damaging |
Het |
| Xrcc5 |
C |
T |
1: 72,369,090 (GRCm39) |
R315C |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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 |
|
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 |
|
|
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'- ATACTCGGCTTTCACCTGAC -3'
(R):5'- TCCCTAGCTGTGGCATTGTC -3'
Sequencing Primer
(F):5'- GGCTTTCACCTGACCCAGTG -3'
(R):5'- GCATTGTCGGTGAGGACAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation