Incidental Mutation 'R0410:Nfatc3'
ID |
36589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfatc3
|
Ensembl Gene |
ENSMUSG00000031902 |
Gene Name |
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3 |
Synonyms |
NFATx, D8Ertd281e, NFAT4 |
MMRRC Submission |
038612-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0410 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106785472-106857169 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106822828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 538
(N538I)
|
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: N546I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104931 Gene: ENSMUSG00000031902 AA Change: N546I
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: N538I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212691
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212742
AA Change: N538I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212936
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,606,268 (GRCm39) |
D170G |
probably benign |
Het |
Actrt3 |
C |
T |
3: 30,652,273 (GRCm39) |
G274S |
probably benign |
Het |
Adamts18 |
G |
T |
8: 114,440,990 (GRCm39) |
C889* |
probably null |
Het |
Alkbh6 |
C |
T |
7: 30,012,031 (GRCm39) |
P104S |
probably damaging |
Het |
Alms1 |
A |
T |
6: 85,564,785 (GRCm39) |
E53V |
unknown |
Het |
Ap3s1 |
T |
C |
18: 46,912,279 (GRCm39) |
C100R |
probably benign |
Het |
Apbb2 |
G |
T |
5: 66,609,149 (GRCm39) |
A166E |
possibly damaging |
Het |
Asph |
A |
G |
4: 9,595,415 (GRCm39) |
V174A |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,401,819 (GRCm39) |
L758P |
probably damaging |
Het |
Cacng5 |
A |
G |
11: 107,768,195 (GRCm39) |
S271P |
possibly damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Chn1 |
A |
T |
2: 73,462,094 (GRCm39) |
C236* |
probably null |
Het |
Coro1b |
T |
C |
19: 4,199,362 (GRCm39) |
V7A |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,201,859 (GRCm39) |
Y962C |
probably damaging |
Het |
Dixdc1 |
T |
C |
9: 50,596,153 (GRCm39) |
D152G |
probably damaging |
Het |
Dmrt1 |
T |
C |
19: 25,483,467 (GRCm39) |
S84P |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,832,799 (GRCm39) |
D844G |
probably benign |
Het |
Edn3 |
C |
T |
2: 174,603,482 (GRCm39) |
P77S |
possibly damaging |
Het |
Efcab7 |
T |
C |
4: 99,735,487 (GRCm39) |
|
probably null |
Het |
Fam83g |
A |
G |
11: 61,594,218 (GRCm39) |
D584G |
probably damaging |
Het |
Fbxo7 |
T |
A |
10: 85,865,102 (GRCm39) |
|
probably null |
Het |
Ffar1 |
T |
C |
7: 30,560,055 (GRCm39) |
T281A |
probably benign |
Het |
Fntb |
T |
C |
12: 76,934,826 (GRCm39) |
V201A |
probably benign |
Het |
Gart |
C |
A |
16: 91,438,215 (GRCm39) |
A101S |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,232,939 (GRCm39) |
T238A |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,424,329 (GRCm39) |
L663S |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,872,386 (GRCm39) |
V2512E |
probably damaging |
Het |
Hip1 |
A |
C |
5: 135,487,009 (GRCm39) |
L66R |
probably damaging |
Het |
Iigp1 |
T |
A |
18: 60,523,375 (GRCm39) |
D164E |
probably benign |
Het |
Kcnip3 |
A |
G |
2: 127,301,986 (GRCm39) |
S193P |
probably damaging |
Het |
Klra9 |
T |
A |
6: 130,165,707 (GRCm39) |
T103S |
probably benign |
Het |
Meis2 |
T |
C |
2: 115,694,709 (GRCm39) |
*471W |
probably null |
Het |
Minar1 |
T |
G |
9: 89,484,256 (GRCm39) |
E380D |
probably damaging |
Het |
Mrpl21 |
T |
C |
19: 3,334,792 (GRCm39) |
S45P |
possibly damaging |
Het |
Mterf1b |
A |
G |
5: 4,246,488 (GRCm39) |
E43G |
probably benign |
Het |
Mycbp2 |
G |
T |
14: 103,372,569 (GRCm39) |
S4092R |
probably damaging |
Het |
Nphp4 |
T |
C |
4: 152,641,503 (GRCm39) |
C1095R |
probably benign |
Het |
Npm2 |
T |
A |
14: 70,889,993 (GRCm39) |
T13S |
probably benign |
Het |
Or1m1 |
C |
A |
9: 18,666,137 (GRCm39) |
V265F |
probably damaging |
Het |
Or7e176 |
T |
A |
9: 20,171,797 (GRCm39) |
F220L |
probably benign |
Het |
Plcg2 |
A |
T |
8: 118,342,112 (GRCm39) |
I1158F |
probably damaging |
Het |
Popdc3 |
T |
C |
10: 45,193,829 (GRCm39) |
V210A |
possibly damaging |
Het |
Postn |
T |
C |
3: 54,292,698 (GRCm39) |
L755S |
possibly damaging |
Het |
Prdx6b |
T |
C |
2: 80,123,373 (GRCm39) |
F61L |
probably damaging |
Het |
Rars1 |
C |
T |
11: 35,716,847 (GRCm39) |
R223H |
probably damaging |
Het |
Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
Scaf4 |
A |
G |
16: 90,057,058 (GRCm39) |
Y98H |
unknown |
Het |
Scn4a |
A |
G |
11: 106,214,775 (GRCm39) |
I1274T |
probably damaging |
Het |
Senp2 |
G |
T |
16: 21,828,444 (GRCm39) |
R18L |
probably damaging |
Het |
Six5 |
T |
A |
7: 18,830,381 (GRCm39) |
V336D |
probably damaging |
Het |
Slc31a2 |
G |
A |
4: 62,210,890 (GRCm39) |
E8K |
probably benign |
Het |
Slc4a7 |
A |
T |
14: 14,738,299 (GRCm38) |
T184S |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,950,513 (GRCm39) |
|
probably null |
Het |
Smr3a |
T |
G |
5: 88,156,070 (GRCm39) |
|
probably benign |
Het |
Sqor |
T |
C |
2: 122,629,442 (GRCm39) |
V100A |
probably benign |
Het |
Srarp |
T |
C |
4: 141,160,459 (GRCm39) |
N125D |
possibly damaging |
Het |
Stam |
T |
C |
2: 14,143,802 (GRCm39) |
V364A |
probably benign |
Het |
Tgm5 |
T |
C |
2: 120,908,039 (GRCm39) |
I46V |
possibly damaging |
Het |
Tie1 |
A |
T |
4: 118,337,766 (GRCm39) |
V443E |
probably damaging |
Het |
Tipin |
T |
C |
9: 64,195,397 (GRCm39) |
M1T |
probably null |
Het |
Tnc |
T |
C |
4: 63,925,931 (GRCm39) |
T950A |
probably benign |
Het |
Tns3 |
T |
C |
11: 8,385,852 (GRCm39) |
D1382G |
probably benign |
Het |
Tor1aip1 |
A |
G |
1: 155,911,686 (GRCm39) |
V99A |
possibly damaging |
Het |
Trim16 |
C |
T |
11: 62,711,297 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
T |
2: 76,618,701 (GRCm39) |
N14448K |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,717,204 (GRCm39) |
|
probably benign |
Het |
Tut4 |
A |
G |
4: 108,343,752 (GRCm39) |
R255G |
probably benign |
Het |
Vmn1r23 |
A |
G |
6: 57,903,175 (GRCm39) |
I201T |
probably benign |
Het |
Vmn2r13 |
T |
A |
5: 109,321,679 (GRCm39) |
K339N |
probably benign |
Het |
Yap1 |
A |
G |
9: 8,001,468 (GRCm39) |
Y173H |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAATGTGCTACCACACCCACCCC -3'
(R):5'- AGCTGCCTAGAATCAAACTACAGTGAGAAAA -3'
Sequencing Primer
(F):5'- ccttgaactcatagagctgagac -3'
(R):5'- aacaaacaaacaaacaaacaaacac -3'
|
Posted On |
2013-05-09 |