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-D, NFATp, NFAT1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03002
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
168476410-168601657 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 168534984 bp (GRCm38)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000151292
|
| 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 |
|
| 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: 66,836,969 (GRCm38) |
I398V |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 55,773,556 (GRCm38) |
C635S |
probably benign |
Het |
| Asic4 |
C |
A |
1: 75,451,323 (GRCm38) |
D164E |
possibly damaging |
Het |
| C8g |
T |
A |
2: 25,498,811 (GRCm38) |
*203L |
probably null |
Het |
| Cad |
T |
C |
5: 31,054,986 (GRCm38) |
V11A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,702,905 (GRCm38) |
N194S |
probably damaging |
Het |
| Cdc123 |
T |
C |
2: 5,798,355 (GRCm38) |
|
probably benign |
Het |
| Chrm5 |
T |
C |
2: 112,480,361 (GRCm38) |
T137A |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,702,441 (GRCm38) |
|
probably benign |
Het |
| Dapk3 |
G |
T |
10: 81,190,603 (GRCm38) |
E187* |
probably null |
Het |
| Dmtf1 |
T |
C |
5: 9,140,474 (GRCm38) |
E80G |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,630,935 (GRCm38) |
N189K |
probably damaging |
Het |
| Gfral |
A |
G |
9: 76,197,238 (GRCm38) |
V164A |
possibly damaging |
Het |
| Hk1 |
A |
T |
10: 62,271,799 (GRCm38) |
V799E |
probably damaging |
Het |
| Iars2 |
C |
T |
1: 185,322,816 (GRCm38) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,675,153 (GRCm38) |
Y972N |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,589,636 (GRCm38) |
D708E |
probably damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,924,490 (GRCm38) |
H301Q |
probably benign |
Het |
| Med12 |
A |
G |
X: 101,295,855 (GRCm38) |
T2004A |
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,798,356 (GRCm38) |
I739T |
possibly damaging |
Het |
| Mthfsd |
C |
T |
8: 121,108,279 (GRCm38) |
|
probably benign |
Het |
| Mybpc3 |
T |
G |
2: 91,123,889 (GRCm38) |
F369C |
probably damaging |
Het |
| Ngef |
A |
T |
1: 87,509,392 (GRCm38) |
|
probably null |
Het |
| Nlrp1b |
T |
C |
11: 71,168,859 (GRCm38) |
E759G |
probably benign |
Het |
| Olfr432 |
C |
A |
1: 174,050,625 (GRCm38) |
T84N |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,893,152 (GRCm38) |
E790G |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,485,781 (GRCm38) |
D81G |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,242,883 (GRCm38) |
H232R |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,810,909 (GRCm38) |
T475M |
possibly damaging |
Het |
| Slc16a4 |
A |
T |
3: 107,300,786 (GRCm38) |
N204I |
probably benign |
Het |
| Socs1 |
T |
C |
16: 10,784,540 (GRCm38) |
N111S |
probably damaging |
Het |
| Srpr |
A |
G |
9: 35,214,721 (GRCm38) |
N432D |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 23,815,734 (GRCm38) |
|
probably benign |
Het |
| Svs1 |
A |
G |
6: 48,987,118 (GRCm38) |
H20R |
probably benign |
Het |
| Tgoln1 |
A |
G |
6: 72,616,072 (GRCm38) |
S142P |
possibly damaging |
Het |
| Trbv13-1 |
A |
G |
6: 41,116,235 (GRCm38) |
N34S |
probably benign |
Het |
| Vmn2r26 |
T |
C |
6: 124,039,795 (GRCm38) |
V406A |
possibly damaging |
Het |
| Vsig1 |
G |
T |
X: 140,926,339 (GRCm38) |
G79V |
probably damaging |
Het |
|
| Other mutations in Nfatc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Nfatc2
|
APN |
2 |
168,504,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01728:Nfatc2
|
APN |
2 |
168,536,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02303:Nfatc2
|
APN |
2 |
168,506,901 (GRCm38) |
nonsense |
probably null |
|
|
IGL02887:Nfatc2
|
APN |
2 |
168,504,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03297:Nfatc2
|
APN |
2 |
168,536,218 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0347:Nfatc2
|
UTSW |
2 |
168,536,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0590:Nfatc2
|
UTSW |
2 |
168,571,199 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0631:Nfatc2
|
UTSW |
2 |
168,590,115 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1019:Nfatc2
|
UTSW |
2 |
168,504,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Nfatc2
|
UTSW |
2 |
168,590,088 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1420:Nfatc2
|
UTSW |
2 |
168,504,665 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1977:Nfatc2
|
UTSW |
2 |
168,504,459 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R2306:Nfatc2
|
UTSW |
2 |
168,590,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3034:Nfatc2
|
UTSW |
2 |
168,535,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3176:Nfatc2
|
UTSW |
2 |
168,506,994 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R3276:Nfatc2
|
UTSW |
2 |
168,506,994 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R3964:Nfatc2
|
UTSW |
2 |
168,504,549 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3966:Nfatc2
|
UTSW |
2 |
168,504,549 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4669:Nfatc2
|
UTSW |
2 |
168,571,490 (GRCm38) |
missense |
probably benign |
|
|
R4864:Nfatc2
|
UTSW |
2 |
168,536,392 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4951:Nfatc2
|
UTSW |
2 |
168,571,072 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5138:Nfatc2
|
UTSW |
2 |
168,536,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5145:Nfatc2
|
UTSW |
2 |
168,590,067 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5185:Nfatc2
|
UTSW |
2 |
168,570,707 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5444:Nfatc2
|
UTSW |
2 |
168,534,890 (GRCm38) |
intron |
probably benign |
|
|
R5496:Nfatc2
|
UTSW |
2 |
168,536,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5728:Nfatc2
|
UTSW |
2 |
168,480,249 (GRCm38) |
missense |
probably benign |
|
|
R5791:Nfatc2
|
UTSW |
2 |
168,536,393 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6102:Nfatc2
|
UTSW |
2 |
168,519,507 (GRCm38) |
intron |
probably benign |
|
|
R6157:Nfatc2
|
UTSW |
2 |
168,519,451 (GRCm38) |
intron |
probably benign |
|
|
R6187:Nfatc2
|
UTSW |
2 |
168,480,238 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7116:Nfatc2
|
UTSW |
2 |
168,507,349 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7218:Nfatc2
|
UTSW |
2 |
168,571,264 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7470:Nfatc2
|
UTSW |
2 |
168,523,307 (GRCm38) |
nonsense |
probably null |
|
|
R7594:Nfatc2
|
UTSW |
2 |
168,523,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7618:Nfatc2
|
UTSW |
2 |
168,534,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7653:Nfatc2
|
UTSW |
2 |
168,571,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8425:Nfatc2
|
UTSW |
2 |
168,536,296 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8485:Nfatc2
|
UTSW |
2 |
168,590,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8791:Nfatc2
|
UTSW |
2 |
168,536,294 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9024:Nfatc2
|
UTSW |
2 |
168,486,728 (GRCm38) |
makesense |
probably null |
|
|
R9442:Nfatc2
|
UTSW |
2 |
168,486,978 (GRCm38) |
intron |
probably benign |
|
|
R9519:Nfatc2
|
UTSW |
2 |
168,570,758 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Nfatc2
|
UTSW |
2 |
168,571,349 (GRCm38) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation