Incidental Mutation 'IGL00885:Nfatc3'
| ID |
27971 |
| 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 # |
IGL00885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106785472-106857169 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106825809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 620
(P620L)
|
| 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 damaging
Transcript: ENSMUST00000109308
AA Change: P628L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: P628L
| 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 damaging
Transcript: ENSMUST00000211991
AA Change: P620L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212691
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212742
AA Change: P620L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
T |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
| Adora2a |
T |
G |
10: 75,169,285 (GRCm39) |
F250V |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,355,567 (GRCm39) |
S516P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,390,552 (GRCm39) |
I150V |
probably damaging |
Het |
| Capn13 |
A |
T |
17: 73,646,420 (GRCm39) |
I331N |
possibly damaging |
Het |
| Capzb |
A |
G |
4: 139,014,361 (GRCm39) |
S233G |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,740,484 (GRCm39) |
R1171G |
probably damaging |
Het |
| Col16a1 |
T |
G |
4: 129,990,703 (GRCm39) |
I1419S |
probably damaging |
Het |
| Coro7 |
T |
A |
16: 4,452,890 (GRCm39) |
Y286F |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,364 (GRCm39) |
T252A |
probably benign |
Het |
| Daam1 |
T |
A |
12: 71,990,865 (GRCm39) |
C160S |
unknown |
Het |
| Ephx4 |
T |
C |
5: 107,553,991 (GRCm39) |
|
probably benign |
Het |
| Fbxo47 |
A |
T |
11: 97,768,946 (GRCm39) |
D63E |
probably benign |
Het |
| Fgf3 |
A |
T |
7: 144,394,521 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
T |
11: 53,039,809 (GRCm39) |
T331I |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,653,832 (GRCm39) |
F467S |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,478 (GRCm39) |
V106I |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,481 (GRCm39) |
T271A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,236,175 (GRCm39) |
N302K |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,614,169 (GRCm39) |
Q184K |
possibly damaging |
Het |
| Moxd2 |
A |
G |
6: 40,861,113 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
C |
A |
9: 110,467,729 (GRCm39) |
E479D |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,795,746 (GRCm39) |
L1231P |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,126,057 (GRCm39) |
F253L |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,628,896 (GRCm39) |
S653R |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,790 (GRCm39) |
I43L |
probably benign |
Het |
| Or9i16 |
A |
T |
19: 13,865,532 (GRCm39) |
M14K |
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,600,003 (GRCm39) |
D921G |
probably benign |
Het |
| Plpp4 |
A |
T |
7: 128,923,257 (GRCm39) |
I101F |
probably damaging |
Het |
| Psg17 |
A |
T |
7: 18,554,091 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,730,093 (GRCm39) |
I20N |
possibly damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,164,175 (GRCm39) |
I1030L |
probably damaging |
Het |
| Rpl7 |
A |
C |
1: 16,172,807 (GRCm39) |
S171A |
possibly damaging |
Het |
| Snx25 |
G |
A |
8: 46,491,513 (GRCm39) |
T859M |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,926 (GRCm39) |
E702G |
unknown |
Het |
| Tmem94 |
A |
G |
11: 115,686,154 (GRCm39) |
M990V |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,774,502 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,029 (GRCm39) |
H34319R |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,404,424 (GRCm39) |
V8A |
probably benign |
Het |
| Zbtb41 |
A |
G |
1: 139,358,062 (GRCm39) |
T457A |
probably benign |
Het |
|
| Other mutations in Nfatc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01755:Nfatc3
|
APN |
8 |
106,854,553 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02314:Nfatc3
|
APN |
8 |
106,805,532 (GRCm39) |
missense |
probably benign |
0.21 |
|
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 |
2013-04-17 |
Incidental Mutation