Incidental Mutation 'IGL00515:Nfatc1'
| ID |
3282 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfatc1
|
| Ensembl Gene |
ENSMUSG00000033016 |
| Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 |
| Synonyms |
2210017P03Rik, NF-ATc, NFATc, NFAT2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
80649420-80756286 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80710241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 508
(H508Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035800]
[ENSMUST00000078049]
[ENSMUST00000167977]
[ENSMUST00000170905]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035800
AA Change: H494Q
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000046312
Gene: ENSMUSG00000033016
AA Change: H494Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
279 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
415 |
575 |
7.4e-28 |
PFAM |
|
IPT
|
582 |
681 |
8.99e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078049
AA Change: H508Q
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077196
Gene: ENSMUSG00000033016
AA Change: H508Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
170 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
293 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
429 |
589 |
1.3e-27 |
PFAM |
|
IPT
|
596 |
695 |
8.99e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167977
AA Change: H494Q
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016
AA Change: H494Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
279 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
415 |
575 |
4.9e-28 |
PFAM |
|
IPT
|
582 |
681 |
8.99e-21 |
SMART |
|
low complexity region
|
832 |
841 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170905
AA Change: H508Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016
AA Change: H508Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
170 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
293 |
N/A |
INTRINSIC |
|
Pfam:RHD_DNA_bind
|
429 |
589 |
5.1e-28 |
PFAM |
|
IPT
|
596 |
695 |
8.99e-21 |
SMART |
|
low complexity region
|
846 |
855 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
C |
8: 71,909,963 (GRCm39) |
E395G |
probably damaging |
Het |
| Agbl2 |
T |
C |
2: 90,624,304 (GRCm39) |
V188A |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,108,979 (GRCm39) |
L1225P |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,662,746 (GRCm39) |
N372K |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,947,865 (GRCm39) |
D1650G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,072,382 (GRCm39) |
R706Q |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,409,265 (GRCm39) |
N1886I |
possibly damaging |
Het |
| Foxp2 |
A |
T |
6: 15,403,818 (GRCm39) |
H390L |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,080 (GRCm39) |
S227P |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,562,336 (GRCm39) |
T148A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,874,799 (GRCm39) |
W1898* |
probably null |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,539 (GRCm39) |
P174Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,617,967 (GRCm39) |
|
probably null |
Het |
| Lef1 |
A |
G |
3: 130,997,926 (GRCm39) |
R312G |
probably damaging |
Het |
| Mast2 |
G |
T |
4: 116,168,526 (GRCm39) |
R805S |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Pabir1 |
T |
C |
19: 24,453,996 (GRCm39) |
D242G |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,102,370 (GRCm39) |
T76A |
probably benign |
Het |
| Rln1 |
C |
T |
19: 29,309,414 (GRCm39) |
V122I |
possibly damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,094,428 (GRCm39) |
I198V |
probably benign |
Het |
| Slco1c1 |
G |
A |
6: 141,515,208 (GRCm39) |
R702H |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,612,940 (GRCm39) |
H860L |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,535 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,686 (GRCm39) |
I535N |
probably benign |
Het |
| Tigar |
A |
C |
6: 127,065,042 (GRCm39) |
M202R |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,917 (GRCm39) |
S42G |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,955,202 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Nfatc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Nfatc1
|
APN |
18 |
80,741,229 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01510:Nfatc1
|
APN |
18 |
80,741,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01790:Nfatc1
|
APN |
18 |
80,710,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02548:Nfatc1
|
APN |
18 |
80,741,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
goldfeld
|
UTSW |
18 |
80,741,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Instrumenten
|
UTSW |
18 |
80,725,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Original
|
UTSW |
18 |
80,696,779 (GRCm39) |
splice site |
probably null |
|
|
BB003:Nfatc1
|
UTSW |
18 |
80,740,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB013:Nfatc1
|
UTSW |
18 |
80,740,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0019:Nfatc1
|
UTSW |
18 |
80,678,719 (GRCm39) |
missense |
probably benign |
|
|
R0411:Nfatc1
|
UTSW |
18 |
80,741,257 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0738:Nfatc1
|
UTSW |
18 |
80,741,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0940:Nfatc1
|
UTSW |
18 |
80,679,110 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1458:Nfatc1
|
UTSW |
18 |
80,708,482 (GRCm39) |
splice site |
probably benign |
|
|
R1622:Nfatc1
|
UTSW |
18 |
80,710,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Nfatc1
|
UTSW |
18 |
80,678,746 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2110:Nfatc1
|
UTSW |
18 |
80,678,879 (GRCm39) |
nonsense |
probably null |
|
|
R2112:Nfatc1
|
UTSW |
18 |
80,678,879 (GRCm39) |
nonsense |
probably null |
|
|
R2157:Nfatc1
|
UTSW |
18 |
80,679,060 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3857:Nfatc1
|
UTSW |
18 |
80,708,490 (GRCm39) |
splice site |
probably benign |
|
|
R3859:Nfatc1
|
UTSW |
18 |
80,708,490 (GRCm39) |
splice site |
probably benign |
|
|
R4108:Nfatc1
|
UTSW |
18 |
80,741,583 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4510:Nfatc1
|
UTSW |
18 |
80,678,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4511:Nfatc1
|
UTSW |
18 |
80,678,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4618:Nfatc1
|
UTSW |
18 |
80,741,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4850:Nfatc1
|
UTSW |
18 |
80,741,080 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5329:Nfatc1
|
UTSW |
18 |
80,751,332 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5395:Nfatc1
|
UTSW |
18 |
80,679,235 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5468:Nfatc1
|
UTSW |
18 |
80,693,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5522:Nfatc1
|
UTSW |
18 |
80,696,744 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5568:Nfatc1
|
UTSW |
18 |
80,693,037 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6111:Nfatc1
|
UTSW |
18 |
80,741,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Nfatc1
|
UTSW |
18 |
80,755,885 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6397:Nfatc1
|
UTSW |
18 |
80,679,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6943:Nfatc1
|
UTSW |
18 |
80,678,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Nfatc1
|
UTSW |
18 |
80,710,228 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6994:Nfatc1
|
UTSW |
18 |
80,696,779 (GRCm39) |
splice site |
probably null |
|
|
R7679:Nfatc1
|
UTSW |
18 |
80,651,205 (GRCm39) |
missense |
probably benign |
|
|
R7703:Nfatc1
|
UTSW |
18 |
80,725,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7926:Nfatc1
|
UTSW |
18 |
80,740,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8346:Nfatc1
|
UTSW |
18 |
80,725,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8411:Nfatc1
|
UTSW |
18 |
80,710,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Nfatc1
|
UTSW |
18 |
80,678,859 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8669:Nfatc1
|
UTSW |
18 |
80,725,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8928:Nfatc1
|
UTSW |
18 |
80,741,180 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9194:Nfatc1
|
UTSW |
18 |
80,751,258 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9281:Nfatc1
|
UTSW |
18 |
80,741,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Nfatc1
|
UTSW |
18 |
80,725,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9562:Nfatc1
|
UTSW |
18 |
80,678,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9636:Nfatc1
|
UTSW |
18 |
80,706,611 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0062:Nfatc1
|
UTSW |
18 |
80,740,833 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Posted On |
2012-04-20 |
Incidental Mutation