Incidental Mutation 'IGL02314:Nfatc3'
| ID |
287945 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfatc3
|
| Ensembl Gene |
ENSMUSG00000031902 |
| Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3 |
| Synonyms |
NFATx, D8Ertd281e, NFAT4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02314
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106785472-106857169 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106805532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 126
(I126V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109308]
[ENSMUST00000211991]
[ENSMUST00000212742]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109308
AA Change: I134V
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: I134V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
305 |
N/A |
INTRINSIC |
|
Pfam:RHD_DNA_bind
|
434 |
593 |
4.9e-25 |
PFAM |
|
IPT
|
600 |
699 |
1.19e-20 |
SMART |
|
low complexity region
|
713 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
967 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211991
AA Change: I126V
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212577
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212742
AA Change: I126V
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212936
|
| 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 member of the nuclear factors 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. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some embryonic lethality and reduced body size. Developmental defects also exist in the immune system , skeletal muscle, vasculature, heart, and sensory nerves. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg2 |
T |
A |
4: 47,472,143 (GRCm39) |
K94* |
probably null |
Het |
| Axl |
A |
G |
7: 25,486,345 (GRCm39) |
F120L |
possibly damaging |
Het |
| Baz2b |
A |
G |
2: 59,792,571 (GRCm39) |
V519A |
probably benign |
Het |
| Cdk2 |
A |
T |
10: 128,539,595 (GRCm39) |
I99N |
probably damaging |
Het |
| Ces1b |
C |
A |
8: 93,791,524 (GRCm39) |
W358C |
possibly damaging |
Het |
| Cimap1b |
T |
G |
15: 89,262,372 (GRCm39) |
K82N |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,533,903 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
T |
G |
9: 105,874,355 (GRCm39) |
T2211P |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,125,265 (GRCm39) |
E438K |
probably benign |
Het |
| Dpy19l4 |
T |
A |
4: 11,267,720 (GRCm39) |
T407S |
possibly damaging |
Het |
| Dtx3 |
G |
A |
10: 127,026,828 (GRCm39) |
|
probably benign |
Het |
| Eif1ad14 |
T |
A |
12: 87,886,377 (GRCm39) |
Y84F |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,881,134 (GRCm39) |
L3246H |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,779 (GRCm39) |
D224V |
probably damaging |
Het |
| Fndc9 |
A |
T |
11: 46,129,122 (GRCm39) |
I214F |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,117,264 (GRCm39) |
I22N |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,326,103 (GRCm39) |
D29G |
probably benign |
Het |
| Gng11 |
T |
A |
6: 4,004,317 (GRCm39) |
M1K |
probably null |
Het |
| Hdac7 |
T |
C |
15: 97,706,885 (GRCm39) |
D237G |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,777,600 (GRCm39) |
Y199C |
probably damaging |
Het |
| Hgfac |
A |
T |
5: 35,198,941 (GRCm39) |
M1L |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,833,777 (GRCm39) |
T35A |
probably damaging |
Het |
| Htr3a |
G |
A |
9: 48,815,927 (GRCm39) |
P170L |
probably damaging |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,421 (GRCm39) |
S25P |
probably damaging |
Het |
| Jph2 |
A |
T |
2: 163,239,273 (GRCm39) |
N58K |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,836,275 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,740,638 (GRCm39) |
Y394* |
probably null |
Het |
| Macf1 |
G |
T |
4: 123,338,630 (GRCm39) |
T2248K |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,351,553 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
G |
A |
12: 69,865,213 (GRCm39) |
P524S |
probably benign |
Het |
| Mcf2l |
C |
T |
8: 13,051,851 (GRCm39) |
S359L |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,750,273 (GRCm39) |
|
probably null |
Het |
| Mfhas1 |
G |
A |
8: 36,055,927 (GRCm39) |
R134H |
probably damaging |
Het |
| Mogs |
A |
G |
6: 83,095,036 (GRCm39) |
T618A |
probably benign |
Het |
| Mybpc2 |
T |
A |
7: 44,171,812 (GRCm39) |
Q39H |
possibly damaging |
Het |
| Myoc |
C |
T |
1: 162,466,917 (GRCm39) |
R29W |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,252,938 (GRCm39) |
M162T |
probably damaging |
Het |
| Nxnl2 |
C |
A |
13: 51,325,565 (GRCm39) |
F69L |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,006,899 (GRCm39) |
I662N |
probably benign |
Het |
| Or52b3 |
A |
T |
7: 102,204,318 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5w8 |
A |
G |
2: 87,688,400 (GRCm39) |
N294D |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,099 (GRCm39) |
S217T |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,774 (GRCm39) |
I213L |
probably benign |
Het |
| Pcdhb14 |
G |
A |
18: 37,583,248 (GRCm39) |
E785K |
probably benign |
Het |
| Plb1 |
A |
C |
5: 32,438,492 (GRCm39) |
Y209S |
possibly damaging |
Het |
| Pramel24 |
T |
C |
4: 143,455,012 (GRCm39) |
S437P |
probably benign |
Het |
| Rab44 |
C |
A |
17: 29,358,327 (GRCm39) |
Q172K |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,811,105 (GRCm39) |
V186E |
probably benign |
Het |
| Rps6ka1 |
C |
A |
4: 133,578,065 (GRCm39) |
G522W |
probably damaging |
Het |
| Samhd1 |
G |
T |
2: 156,976,948 (GRCm39) |
T21K |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,246,763 (GRCm39) |
Y358C |
probably benign |
Het |
| Sfxn2 |
A |
G |
19: 46,571,026 (GRCm39) |
N29D |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,962,156 (GRCm39) |
S363N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,753,932 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
T |
4: 155,945,119 (GRCm39) |
C701S |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
| Trmt6 |
G |
A |
2: 132,647,378 (GRCm39) |
A486V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,091 (GRCm39) |
R1602* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,365,826 (GRCm39) |
M2227V |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,804,221 (GRCm39) |
Q490H |
probably benign |
Het |
| Wdr19 |
G |
T |
5: 65,414,463 (GRCm39) |
A1279S |
probably benign |
Het |
| Zbtb7c |
G |
A |
18: 76,278,937 (GRCm39) |
R465H |
probably damaging |
Het |
| Zfp473 |
T |
C |
7: 44,383,353 (GRCm39) |
S326G |
probably benign |
Het |
|
| Other mutations in Nfatc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Nfatc3
|
APN |
8 |
106,825,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01755:Nfatc3
|
APN |
8 |
106,854,553 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02724:Nfatc3
|
APN |
8 |
106,834,817 (GRCm39) |
missense |
probably benign |
0.29 |
|
Kampf
|
UTSW |
8 |
106,825,782 (GRCm39) |
missense |
probably benign |
0.23 |
|
Struggles
|
UTSW |
8 |
106,810,502 (GRCm39) |
nonsense |
probably null |
|
|
PIT1430001:Nfatc3
|
UTSW |
8 |
106,786,605 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4515001:Nfatc3
|
UTSW |
8 |
106,805,835 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0088:Nfatc3
|
UTSW |
8 |
106,854,574 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0348:Nfatc3
|
UTSW |
8 |
106,818,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Nfatc3
|
UTSW |
8 |
106,822,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Nfatc3
|
UTSW |
8 |
106,810,486 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1702:Nfatc3
|
UTSW |
8 |
106,818,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Nfatc3
|
UTSW |
8 |
106,810,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Nfatc3
|
UTSW |
8 |
106,805,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Nfatc3
|
UTSW |
8 |
106,825,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2370:Nfatc3
|
UTSW |
8 |
106,835,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Nfatc3
|
UTSW |
8 |
106,818,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:Nfatc3
|
UTSW |
8 |
106,806,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3959:Nfatc3
|
UTSW |
8 |
106,825,709 (GRCm39) |
nonsense |
probably null |
|
|
R4006:Nfatc3
|
UTSW |
8 |
106,835,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4079:Nfatc3
|
UTSW |
8 |
106,806,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4589:Nfatc3
|
UTSW |
8 |
106,805,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Nfatc3
|
UTSW |
8 |
106,835,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4907:Nfatc3
|
UTSW |
8 |
106,806,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Nfatc3
|
UTSW |
8 |
106,834,757 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5632:Nfatc3
|
UTSW |
8 |
106,805,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5741:Nfatc3
|
UTSW |
8 |
106,805,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Nfatc3
|
UTSW |
8 |
106,822,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6439:Nfatc3
|
UTSW |
8 |
106,810,502 (GRCm39) |
nonsense |
probably null |
|
|
R6557:Nfatc3
|
UTSW |
8 |
106,845,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6737:Nfatc3
|
UTSW |
8 |
106,810,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Nfatc3
|
UTSW |
8 |
106,845,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7260:Nfatc3
|
UTSW |
8 |
106,835,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7429:Nfatc3
|
UTSW |
8 |
106,835,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7430:Nfatc3
|
UTSW |
8 |
106,835,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7526:Nfatc3
|
UTSW |
8 |
106,805,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7760:Nfatc3
|
UTSW |
8 |
106,834,973 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8783:Nfatc3
|
UTSW |
8 |
106,825,784 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8867:Nfatc3
|
UTSW |
8 |
106,805,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Nfatc3
|
UTSW |
8 |
106,835,402 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9021:Nfatc3
|
UTSW |
8 |
106,818,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Nfatc3
|
UTSW |
8 |
106,825,782 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9538:Nfatc3
|
UTSW |
8 |
106,834,784 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9656:Nfatc3
|
UTSW |
8 |
106,830,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Nfatc3
|
UTSW |
8 |
106,810,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Nfatc3
|
UTSW |
8 |
106,834,981 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Nfatc3
|
UTSW |
8 |
106,818,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation