Incidental Mutation 'R4079:Nfatc3'
ID |
316753 |
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 |
040976-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106785472-106857169 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106806123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 323
(Y323H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109308]
[ENSMUST00000211991]
[ENSMUST00000212742]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109308
AA Change: Y331H
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104931 Gene: ENSMUSG00000031902 AA Change: Y331H
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: Y323H
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212577
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212742
AA Change: Y323H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212936
|
Meta Mutation Damage Score |
0.0806 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (73/75) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago3 |
C |
G |
4: 126,247,473 (GRCm39) |
|
probably null |
Het |
Ankfy1 |
C |
A |
11: 72,580,835 (GRCm39) |
|
probably benign |
Het |
Ap4b1 |
T |
A |
3: 103,720,694 (GRCm39) |
N121K |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,886,588 (GRCm39) |
M1131V |
probably damaging |
Het |
Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
Armc9 |
A |
T |
1: 86,140,851 (GRCm39) |
|
probably benign |
Het |
Bnc1 |
T |
C |
7: 81,623,508 (GRCm39) |
E573G |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,963,879 (GRCm39) |
T817A |
probably benign |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cadm3 |
A |
G |
1: 173,169,236 (GRCm39) |
V293A |
probably benign |
Het |
Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
Cbfa2t3 |
A |
G |
8: 123,374,434 (GRCm39) |
|
probably null |
Het |
Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
Cdc45 |
A |
T |
16: 18,630,110 (GRCm39) |
V19D |
probably damaging |
Het |
Cfap57 |
C |
A |
4: 118,456,194 (GRCm39) |
S500I |
probably benign |
Het |
Cnga3 |
A |
T |
1: 37,280,946 (GRCm39) |
Q47L |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,661,226 (GRCm39) |
D89G |
probably benign |
Het |
Cox16 |
A |
T |
12: 81,521,109 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,006,791 (GRCm39) |
N50S |
probably benign |
Het |
Diaph1 |
T |
A |
18: 37,986,636 (GRCm39) |
E1116D |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,198,328 (GRCm39) |
D1535G |
possibly damaging |
Het |
Enpp1 |
A |
G |
10: 24,544,905 (GRCm39) |
|
probably null |
Het |
F13b |
T |
A |
1: 139,429,508 (GRCm39) |
F9I |
unknown |
Het |
Fcer1a |
C |
T |
1: 173,052,920 (GRCm39) |
C36Y |
probably damaging |
Het |
Fcho2 |
A |
G |
13: 98,892,120 (GRCm39) |
V318A |
probably damaging |
Het |
Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,228,501 (GRCm39) |
V493A |
probably damaging |
Het |
Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
Kpna7 |
A |
G |
5: 144,942,737 (GRCm39) |
I83T |
possibly damaging |
Het |
Llgl1 |
C |
A |
11: 60,601,110 (GRCm39) |
|
probably null |
Het |
Lrig3 |
A |
C |
10: 125,845,656 (GRCm39) |
E695A |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
Mfn1 |
T |
G |
3: 32,596,998 (GRCm39) |
L152W |
probably damaging |
Het |
Mog |
A |
G |
17: 37,323,302 (GRCm39) |
F212S |
probably damaging |
Het |
Mpeg1 |
A |
G |
19: 12,439,634 (GRCm39) |
N364S |
probably damaging |
Het |
Mtmr3 |
C |
T |
11: 4,441,057 (GRCm39) |
R531Q |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,357,236 (GRCm39) |
N443S |
probably damaging |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
Or52x1 |
A |
T |
7: 104,853,228 (GRCm39) |
H107Q |
probably damaging |
Het |
Or8u10 |
A |
G |
2: 85,915,656 (GRCm39) |
V155A |
possibly damaging |
Het |
Patl1 |
C |
T |
19: 11,908,994 (GRCm39) |
A467V |
probably damaging |
Het |
Pdss2 |
A |
T |
10: 43,278,518 (GRCm39) |
M342L |
probably benign |
Het |
Phax |
A |
G |
18: 56,709,051 (GRCm39) |
N183S |
possibly damaging |
Het |
Pnck |
A |
T |
X: 72,701,761 (GRCm39) |
V93E |
probably damaging |
Het |
Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
Ptprk |
G |
A |
10: 28,139,508 (GRCm39) |
V78I |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,526,021 (GRCm39) |
|
probably null |
Het |
Ptprv |
A |
G |
1: 135,038,168 (GRCm39) |
|
noncoding transcript |
Het |
Ranbp3l |
A |
G |
15: 9,060,838 (GRCm39) |
N233S |
probably damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,115,510 (GRCm39) |
S693P |
probably benign |
Het |
Scyl2 |
A |
T |
10: 89,476,458 (GRCm39) |
M889K |
probably benign |
Het |
Serpina3a |
C |
T |
12: 104,085,934 (GRCm39) |
Q320* |
probably null |
Het |
Slc12a1 |
A |
T |
2: 125,042,543 (GRCm39) |
N733I |
possibly damaging |
Het |
Snap47 |
C |
T |
11: 59,319,377 (GRCm39) |
V254I |
probably benign |
Het |
Speer4e2 |
A |
T |
5: 15,027,663 (GRCm39) |
L71Q |
probably damaging |
Het |
St6galnac2 |
A |
T |
11: 116,572,724 (GRCm39) |
L244Q |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tjp2 |
A |
T |
19: 24,086,182 (GRCm39) |
V780E |
possibly damaging |
Het |
Tns1 |
G |
A |
1: 74,034,467 (GRCm39) |
R192C |
probably damaging |
Het |
Trav6-3 |
T |
C |
14: 53,667,537 (GRCm39) |
L3P |
possibly damaging |
Het |
Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
Usp32 |
T |
A |
11: 84,930,055 (GRCm39) |
Y574F |
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 |
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 |
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'- TCTCCCTGTGGTAAACGACG -3'
(R):5'- TTTGCTCCAGGTAAAGGGTG -3'
Sequencing Primer
(F):5'- TGTGGTAAACGACGGCACTC -3'
(R):5'- GAAATTGGTCACCAGATGAATCTTTC -3'
|
Posted On |
2015-05-15 |