Incidental Mutation 'R0348:Nfatc3'
ID 35997
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 038555-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0348 (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 G at 106818827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 515 (E515G)
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: E523G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: E523G

DomainStartEndE-ValueType
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: E515G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212691
Predicted Effect probably damaging
Transcript: ENSMUST00000212742
AA Change: E515G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212936
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T C 11: 3,844,987 (GRCm39) D34G probably benign Het
Adam6a T C 12: 113,508,337 (GRCm39) S237P probably damaging Het
Adamts13 A C 2: 26,871,092 (GRCm39) D235A probably benign Het
Adgb T A 10: 10,233,623 (GRCm39) M1259L probably benign Het
Apbb1 T C 7: 105,214,510 (GRCm39) Q529R probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camta1 T C 4: 151,670,888 (GRCm39) T96A possibly damaging Het
Ccdc148 A T 2: 58,894,084 (GRCm39) probably null Het
Cep170b T C 12: 112,703,240 (GRCm39) Y568H probably damaging Het
Clca4b A T 3: 144,627,741 (GRCm39) I410N probably damaging Het
Cnot10 G A 9: 114,427,838 (GRCm39) T592I probably benign Het
Col6a3 C T 1: 90,755,771 (GRCm39) A173T probably damaging Het
Ctcf T A 8: 106,402,789 (GRCm39) C560* probably null Het
Daglb G A 5: 143,472,951 (GRCm39) V369I probably benign Het
Defb19 G A 2: 152,422,146 (GRCm39) L8F unknown Het
Emcn G T 3: 137,078,608 (GRCm39) E65* probably null Het
Etl4 G T 2: 20,782,940 (GRCm39) R753L probably damaging Het
Fam151b T C 13: 92,586,689 (GRCm39) Y248C probably benign Het
Fmo1 T C 1: 162,663,704 (GRCm39) D275G probably benign Het
Gjd4 A G 18: 9,280,964 (GRCm39) V38A possibly damaging Het
Hivep1 T C 13: 42,311,855 (GRCm39) V1365A possibly damaging Het
Hivep2 T C 10: 14,005,702 (GRCm39) S767P possibly damaging Het
Hoxa6 T C 6: 52,183,548 (GRCm39) T166A possibly damaging Het
Ift80 G T 3: 68,843,232 (GRCm39) L367I probably benign Het
Igf2bp1 T C 11: 95,859,719 (GRCm39) N369S possibly damaging Het
Igsf11 C A 16: 38,829,179 (GRCm39) D24E probably benign Het
Ints5 C T 19: 8,873,114 (GRCm39) L358F probably damaging Het
Kbtbd3 A G 9: 4,330,519 (GRCm39) T298A possibly damaging Het
Kif28 C A 1: 179,558,818 (GRCm39) V297F probably damaging Het
Krt12 T C 11: 99,308,771 (GRCm39) Y422C probably damaging Het
Lig1 T A 7: 13,043,122 (GRCm39) W856R probably damaging Het
Liph C T 16: 21,786,730 (GRCm39) probably null Het
Lrig3 T A 10: 125,849,317 (GRCm39) C1012* probably null Het
Lrit1 A G 14: 36,782,182 (GRCm39) E285G probably damaging Het
Lrrc31 A G 3: 30,743,377 (GRCm39) V196A probably benign Het
Lrrn4 T C 2: 132,712,363 (GRCm39) T487A probably benign Het
Mllt10 T C 2: 18,167,424 (GRCm39) Y372H probably damaging Het
Mrpl50 A T 4: 49,514,515 (GRCm39) V52E probably damaging Het
Mthfd1l T C 10: 4,006,766 (GRCm39) V676A probably damaging Het
Ncl C T 1: 86,284,362 (GRCm39) D245N possibly damaging Het
Neil1 A T 9: 57,054,065 (GRCm39) probably null Het
Nlrp4b A G 7: 10,449,108 (GRCm39) E70G possibly damaging Het
Nme3 A T 17: 25,115,491 (GRCm39) I2F possibly damaging Het
Nup210 G A 6: 91,051,292 (GRCm39) H364Y probably benign Het
Nxpe3 T A 16: 55,686,898 (GRCm39) T37S probably benign Het
Olfm1 T A 2: 28,102,554 (GRCm39) M76K probably benign Het
Pgbd5 A T 8: 125,160,771 (GRCm39) V32E probably damaging Het
Plcb4 T C 2: 135,810,339 (GRCm39) M646T probably damaging Het
Plekha7 G A 7: 115,757,255 (GRCm39) P565L probably damaging Het
Poc5 A G 13: 96,535,374 (GRCm39) D213G probably null Het
Poli A G 18: 70,656,452 (GRCm39) I125T probably benign Het
Ppm1f T C 16: 16,721,254 (GRCm39) M1T probably null Het
Psmd7 T C 8: 108,307,523 (GRCm39) K320R unknown Het
Rabggtb A G 3: 153,615,954 (GRCm39) V128A probably damaging Het
Rasa2 A T 9: 96,454,012 (GRCm39) L308H probably damaging Het
Serpina1d C T 12: 103,730,034 (GRCm39) V383M probably benign Het
Sipa1l1 T C 12: 82,431,530 (GRCm39) probably null Het
Sos1 T C 17: 80,715,740 (GRCm39) T1006A probably benign Het
Sugp1 T A 8: 70,522,658 (GRCm39) Y453N probably damaging Het
Taf3 A T 2: 10,047,455 (GRCm39) D64E probably benign Het
Tcf19 A T 17: 35,826,801 (GRCm39) probably null Het
Trim60 T A 8: 65,453,868 (GRCm39) H127L probably damaging Het
Tubb4a C T 17: 57,387,770 (GRCm39) V419M probably damaging Het
Vmn2r22 G T 6: 123,614,684 (GRCm39) T302K probably damaging Het
Vmn2r68 T G 7: 84,870,884 (GRCm39) T800P possibly damaging Het
Zfhx2 A C 14: 55,300,965 (GRCm39) V2262G probably damaging Het
Other mutations in Nfatc3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ggtcaggctctcaCGGGTTACTTTA -3'
(R):5'- ACCCAAAGCCAAACAAACCATGCAG -3'

Sequencing Primer
(F):5'- ctctcaCGGGTTACTTTACTGTC -3'
(R):5'- tcctggaagctggaattatagac -3'
Posted On 2013-05-09