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) question?
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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