Incidental Mutation 'IGL03297:Nfatc2'
ID |
416132 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nfatc2
|
Ensembl Gene |
ENSMUSG00000027544 |
Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 |
Synonyms |
NFAT1, NFAT1-D, NFATp |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03297
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 168378138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 509
(N509I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029057]
[ENSMUST00000074618]
[ENSMUST00000109184]
[ENSMUST00000137451]
[ENSMUST00000171689]
|
AlphaFold |
Q60591 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029057
AA Change: N509I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029057 Gene: ENSMUSG00000027544 AA Change: N509I
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
low complexity region
|
170 |
187 |
N/A |
INTRINSIC |
low complexity region
|
236 |
255 |
N/A |
INTRINSIC |
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
Pfam:RHD
|
412 |
572 |
2.6e-24 |
PFAM |
Blast:IPT
|
579 |
618 |
8e-19 |
BLAST |
SCOP:d1imhc1
|
579 |
619 |
3e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074618
AA Change: N509I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000074198 Gene: ENSMUSG00000027544 AA Change: N509I
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
low complexity region
|
170 |
187 |
N/A |
INTRINSIC |
low complexity region
|
236 |
255 |
N/A |
INTRINSIC |
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
Pfam:RHD_DNA_bind
|
412 |
572 |
2.8e-24 |
PFAM |
IPT
|
579 |
678 |
1.65e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000099067
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109184
AA Change: N509I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104812 Gene: ENSMUSG00000027544 AA Change: N509I
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
low complexity region
|
170 |
187 |
N/A |
INTRINSIC |
low complexity region
|
236 |
255 |
N/A |
INTRINSIC |
low complexity region
|
267 |
283 |
N/A |
INTRINSIC |
Pfam:RHD
|
412 |
572 |
1.3e-24 |
PFAM |
IPT
|
579 |
678 |
1.65e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137451
AA Change: N489I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118329 Gene: ENSMUSG00000027544 AA Change: N489I
Domain | Start | End | E-Value | Type |
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
low complexity region
|
247 |
263 |
N/A |
INTRINSIC |
Pfam:RHD
|
392 |
552 |
7.9e-25 |
PFAM |
Blast:IPT
|
559 |
598 |
8e-19 |
BLAST |
SCOP:d1imhc1
|
559 |
599 |
2e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140137
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151292
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171689
AA Change: N288I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130875 Gene: ENSMUSG00000027544 AA Change: N288I
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
34 |
N/A |
INTRINSIC |
low complexity region
|
46 |
62 |
N/A |
INTRINSIC |
Pfam:RHD
|
191 |
351 |
1.3e-24 |
PFAM |
Blast:IPT
|
358 |
397 |
4e-19 |
BLAST |
SCOP:d1imhc1
|
358 |
398 |
1e-9 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012] PHENOTYPE: Mutations in this locus cause altered immune system function such as decreased cytokine production by mast cells, increased Th2 responses after infection with a parasite but decreased Th1 responses after myobacterial infection, retarded thymic involutionand massive germinal center formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,341,663 (GRCm39) |
G1624S |
probably damaging |
Het |
Adhfe1 |
A |
G |
1: 9,620,173 (GRCm39) |
|
probably benign |
Het |
Ano6 |
C |
A |
15: 95,860,158 (GRCm39) |
T760N |
probably damaging |
Het |
Camsap2 |
T |
C |
1: 136,225,539 (GRCm39) |
M196V |
probably benign |
Het |
Cd209d |
T |
C |
8: 3,928,476 (GRCm39) |
D3G |
possibly damaging |
Het |
Cdh5 |
T |
A |
8: 104,854,831 (GRCm39) |
F253Y |
probably damaging |
Het |
Cnot10 |
T |
C |
9: 114,427,784 (GRCm39) |
E610G |
possibly damaging |
Het |
Cnot4 |
T |
C |
6: 35,001,158 (GRCm39) |
N579S |
probably benign |
Het |
Csmd1 |
G |
T |
8: 16,059,432 (GRCm39) |
S2101* |
probably null |
Het |
Dgkq |
C |
A |
5: 108,798,140 (GRCm39) |
R706L |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,727 (GRCm39) |
|
noncoding transcript |
Het |
Gpr34 |
A |
G |
X: 13,505,681 (GRCm39) |
Y70C |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,639,374 (GRCm39) |
L914Q |
probably benign |
Het |
Ifitm6 |
T |
C |
7: 140,595,948 (GRCm39) |
Y115C |
probably damaging |
Het |
Iqcg |
G |
T |
16: 32,856,002 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
G |
11: 60,369,967 (GRCm39) |
D909G |
probably damaging |
Het |
Nefl |
A |
G |
14: 68,321,673 (GRCm39) |
T88A |
possibly damaging |
Het |
Nkd1 |
T |
C |
8: 89,300,902 (GRCm39) |
|
probably benign |
Het |
Npas2 |
T |
C |
1: 39,331,771 (GRCm39) |
V62A |
possibly damaging |
Het |
Oas2 |
T |
G |
5: 120,873,150 (GRCm39) |
D635A |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,951,712 (GRCm39) |
V4014M |
possibly damaging |
Het |
Ogfr |
C |
A |
2: 180,236,200 (GRCm39) |
H262N |
possibly damaging |
Het |
Or10aa1 |
T |
G |
1: 173,869,683 (GRCm39) |
S56A |
probably benign |
Het |
Or8b49 |
A |
T |
9: 38,505,821 (GRCm39) |
L101F |
probably benign |
Het |
Pa2g4 |
T |
C |
10: 128,399,105 (GRCm39) |
D104G |
probably damaging |
Het |
Parp11 |
T |
C |
6: 127,467,045 (GRCm39) |
|
probably benign |
Het |
Ppp2r5a |
C |
T |
1: 191,086,959 (GRCm39) |
V360I |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,688,943 (GRCm39) |
K912I |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,202 (GRCm39) |
S938P |
probably benign |
Het |
Slc15a1 |
A |
C |
14: 121,724,096 (GRCm39) |
I170S |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,656,695 (GRCm39) |
N1924S |
probably benign |
Het |
Sprr4 |
G |
A |
3: 92,407,731 (GRCm39) |
P24S |
unknown |
Het |
Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
Tyw1 |
C |
T |
5: 130,369,575 (GRCm39) |
A687V |
probably damaging |
Het |
Vmn2r14 |
T |
A |
5: 109,363,973 (GRCm39) |
I648F |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,969 (GRCm39) |
C162* |
probably null |
Het |
|
Other mutations in Nfatc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Nfatc2
|
APN |
2 |
168,346,810 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01728:Nfatc2
|
APN |
2 |
168,378,162 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02303:Nfatc2
|
APN |
2 |
168,348,821 (GRCm39) |
nonsense |
probably null |
|
IGL02887:Nfatc2
|
APN |
2 |
168,346,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03002:Nfatc2
|
APN |
2 |
168,376,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Nfatc2
|
UTSW |
2 |
168,378,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R0590:Nfatc2
|
UTSW |
2 |
168,413,119 (GRCm39) |
missense |
probably damaging |
0.99 |
R0631:Nfatc2
|
UTSW |
2 |
168,432,035 (GRCm39) |
missense |
probably benign |
0.02 |
R1019:Nfatc2
|
UTSW |
2 |
168,346,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R1183:Nfatc2
|
UTSW |
2 |
168,432,008 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1420:Nfatc2
|
UTSW |
2 |
168,346,585 (GRCm39) |
missense |
probably benign |
0.01 |
R1977:Nfatc2
|
UTSW |
2 |
168,346,379 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2306:Nfatc2
|
UTSW |
2 |
168,432,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R3034:Nfatc2
|
UTSW |
2 |
168,376,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R3176:Nfatc2
|
UTSW |
2 |
168,348,914 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3276:Nfatc2
|
UTSW |
2 |
168,348,914 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3964:Nfatc2
|
UTSW |
2 |
168,346,469 (GRCm39) |
missense |
probably benign |
0.00 |
R3966:Nfatc2
|
UTSW |
2 |
168,346,469 (GRCm39) |
missense |
probably benign |
0.00 |
R4669:Nfatc2
|
UTSW |
2 |
168,413,410 (GRCm39) |
missense |
probably benign |
|
R4864:Nfatc2
|
UTSW |
2 |
168,378,312 (GRCm39) |
missense |
probably damaging |
0.96 |
R4951:Nfatc2
|
UTSW |
2 |
168,412,992 (GRCm39) |
missense |
probably damaging |
0.98 |
R5138:Nfatc2
|
UTSW |
2 |
168,378,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R5145:Nfatc2
|
UTSW |
2 |
168,431,987 (GRCm39) |
missense |
probably benign |
0.25 |
R5185:Nfatc2
|
UTSW |
2 |
168,412,627 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5444:Nfatc2
|
UTSW |
2 |
168,376,810 (GRCm39) |
intron |
probably benign |
|
R5496:Nfatc2
|
UTSW |
2 |
168,378,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R5728:Nfatc2
|
UTSW |
2 |
168,322,169 (GRCm39) |
missense |
probably benign |
|
R5791:Nfatc2
|
UTSW |
2 |
168,378,313 (GRCm39) |
missense |
probably benign |
0.28 |
R6102:Nfatc2
|
UTSW |
2 |
168,361,427 (GRCm39) |
intron |
probably benign |
|
R6157:Nfatc2
|
UTSW |
2 |
168,361,371 (GRCm39) |
intron |
probably benign |
|
R6187:Nfatc2
|
UTSW |
2 |
168,322,158 (GRCm39) |
missense |
probably benign |
0.13 |
R7116:Nfatc2
|
UTSW |
2 |
168,349,269 (GRCm39) |
missense |
probably benign |
0.04 |
R7218:Nfatc2
|
UTSW |
2 |
168,413,184 (GRCm39) |
missense |
probably benign |
0.01 |
R7470:Nfatc2
|
UTSW |
2 |
168,365,227 (GRCm39) |
nonsense |
probably null |
|
R7594:Nfatc2
|
UTSW |
2 |
168,365,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R7618:Nfatc2
|
UTSW |
2 |
168,376,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R7653:Nfatc2
|
UTSW |
2 |
168,413,065 (GRCm39) |
missense |
probably benign |
0.01 |
R8425:Nfatc2
|
UTSW |
2 |
168,378,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R8485:Nfatc2
|
UTSW |
2 |
168,432,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R8791:Nfatc2
|
UTSW |
2 |
168,378,214 (GRCm39) |
missense |
probably damaging |
0.99 |
R9024:Nfatc2
|
UTSW |
2 |
168,328,648 (GRCm39) |
makesense |
probably null |
|
R9442:Nfatc2
|
UTSW |
2 |
168,328,898 (GRCm39) |
intron |
probably benign |
|
R9519:Nfatc2
|
UTSW |
2 |
168,412,678 (GRCm39) |
missense |
probably benign |
|
Z1176:Nfatc2
|
UTSW |
2 |
168,413,269 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |