Incidental Mutation 'IGL03002:Nfatc2'
ID |
407386 |
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 # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
168318330-168443577 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 168376904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 329
(V329M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029057]
[ENSMUST00000074618]
[ENSMUST00000109184]
[ENSMUST00000137451]
[ENSMUST00000171689]
|
AlphaFold |
Q60591 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029057
AA Change: V550M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029057 Gene: ENSMUSG00000027544 AA Change: V550M
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: V550M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074198 Gene: ENSMUSG00000027544 AA Change: V550M
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: V550M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104812 Gene: ENSMUSG00000027544 AA Change: V550M
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: V530M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118329 Gene: ENSMUSG00000027544 AA Change: V530M
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 |
probably damaging
Transcript: ENSMUST00000171689
AA Change: V329M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130875 Gene: ENSMUSG00000027544 AA Change: V329M
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 |
|
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 |
Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
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 |
IGL02303:Nfatc2
|
APN |
2 |
168,348,821 (GRCm39) |
nonsense |
probably null |
|
IGL02887:Nfatc2
|
APN |
2 |
168,346,370 (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 |
2016-08-02 |