Incidental Mutation 'IGL02303:Nfatc2'
ID |
287475 |
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 # |
IGL02303
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 168348821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 669
(R669*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074618]
[ENSMUST00000109184]
|
AlphaFold |
Q60591 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074618
AA Change: R669*
|
SMART Domains |
Protein: ENSMUSP00000074198 Gene: ENSMUSG00000027544 AA Change: R669*
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 |
probably null
Transcript: ENSMUST00000109184
AA Change: R669*
|
SMART Domains |
Protein: ENSMUSP00000104812 Gene: ENSMUSG00000027544 AA Change: R669*
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 |
noncoding transcript
Transcript: ENSMUST00000151292
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,045,376 (GRCm39) |
F319S |
probably damaging |
Het |
Ap3b1 |
A |
G |
13: 94,664,827 (GRCm39) |
D922G |
unknown |
Het |
Bhlhe41 |
A |
T |
6: 145,809,882 (GRCm39) |
H107Q |
probably damaging |
Het |
Csmd2 |
C |
A |
4: 128,262,801 (GRCm39) |
H662Q |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,932,021 (GRCm39) |
V1463A |
probably benign |
Het |
Ebf3 |
A |
T |
7: 136,911,094 (GRCm39) |
V140E |
probably benign |
Het |
Havcr2 |
T |
A |
11: 46,370,108 (GRCm39) |
|
probably benign |
Het |
Hexb |
G |
A |
13: 97,313,401 (GRCm39) |
A485V |
probably damaging |
Het |
Igkv5-37 |
T |
A |
6: 69,940,473 (GRCm39) |
Q57L |
probably damaging |
Het |
Ipo5 |
T |
A |
14: 121,154,795 (GRCm39) |
S40T |
probably benign |
Het |
Kcnj8 |
A |
G |
6: 142,515,837 (GRCm39) |
M90T |
probably benign |
Het |
Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,515,155 (GRCm39) |
L2896R |
probably damaging |
Het |
Ldlrap1 |
A |
T |
4: 134,484,706 (GRCm39) |
I96N |
probably damaging |
Het |
Leo1 |
A |
G |
9: 75,353,281 (GRCm39) |
|
probably benign |
Het |
Mbnl2 |
T |
C |
14: 120,642,059 (GRCm39) |
M341T |
probably benign |
Het |
Nhlrc2 |
T |
A |
19: 56,563,280 (GRCm39) |
V293E |
probably damaging |
Het |
Or1e17 |
T |
C |
11: 73,831,276 (GRCm39) |
F68S |
possibly damaging |
Het |
Or2at1 |
A |
G |
7: 99,417,179 (GRCm39) |
D270G |
possibly damaging |
Het |
Or51ag1 |
A |
T |
7: 103,155,295 (GRCm39) |
M286K |
probably benign |
Het |
Or51ai2 |
A |
G |
7: 103,586,770 (GRCm39) |
Q61R |
possibly damaging |
Het |
Otoa |
T |
A |
7: 120,732,147 (GRCm39) |
|
probably null |
Het |
Pcnt |
T |
C |
10: 76,278,393 (GRCm39) |
|
probably benign |
Het |
Recql4 |
G |
T |
15: 76,592,771 (GRCm39) |
Q307K |
possibly damaging |
Het |
Sp140 |
T |
A |
1: 85,570,730 (GRCm39) |
Y453* |
probably null |
Het |
Sspo |
G |
A |
6: 48,461,639 (GRCm39) |
V3600I |
possibly damaging |
Het |
Sybu |
T |
C |
15: 44,536,619 (GRCm39) |
E441G |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,929,553 (GRCm39) |
H222Q |
probably damaging |
Het |
Tef |
T |
C |
15: 81,705,496 (GRCm39) |
V173A |
probably benign |
Het |
Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
Tmod4 |
C |
A |
3: 95,032,953 (GRCm39) |
Q30K |
probably benign |
Het |
Tpgs1 |
T |
C |
10: 79,511,322 (GRCm39) |
Y155H |
probably damaging |
Het |
Trib3 |
G |
A |
2: 152,185,070 (GRCm39) |
P60S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,560,550 (GRCm39) |
T20957S |
probably damaging |
Het |
Vars1 |
T |
C |
17: 35,234,460 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
C |
9: 67,852,763 (GRCm39) |
|
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,168,002 (GRCm39) |
S704P |
unknown |
Het |
Zfp644 |
G |
A |
5: 106,785,180 (GRCm39) |
R456W |
probably damaging |
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 |
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 |
IGL03297:Nfatc2
|
APN |
2 |
168,378,138 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |