Incidental Mutation 'IGL01755:Nfatc3'
ID 153186
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, NFAT4, D8Ertd281e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01755
Quality Score
Status
Chromosome 8
Chromosomal Location 106058840-106130537 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106127921 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1029 (N1029S)
Ref Sequence ENSEMBL: ENSMUSP00000148551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109308] [ENSMUST00000115979] [ENSMUST00000146940] [ENSMUST00000211991] [ENSMUST00000212742]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000109308
AA Change: N1037S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: N1037S

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 benign
Transcript: ENSMUST00000115979
SMART Domains Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
RRM 248 320 2.58e-1 SMART
RRM 349 424 2.67e-2 SMART
low complexity region 439 459 N/A INTRINSIC
RRM 466 541 4.17e-3 SMART
low complexity region 549 575 N/A INTRINSIC
low complexity region 593 614 N/A INTRINSIC
low complexity region 644 660 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142050
Predicted Effect probably benign
Transcript: ENSMUST00000146940
SMART Domains Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
RRM 247 319 2.58e-1 SMART
RRM 348 423 2.67e-2 SMART
low complexity region 438 458 N/A INTRINSIC
RRM 465 540 4.17e-3 SMART
low complexity region 548 574 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211991
Predicted Effect probably benign
Transcript: ENSMUST00000212742
AA Change: N1029S

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T A 17: 33,066,977 N284Y probably damaging Het
Atf6 A G 1: 170,788,611 I520T possibly damaging Het
Azgp1 A T 5: 137,989,847 K297M possibly damaging Het
Cyp2e1 A G 7: 140,774,556 probably null Het
Dapk1 T A 13: 60,761,176 L1201Q possibly damaging Het
Dapk1 C A 13: 60,761,175 L1201M probably damaging Het
Insrr A T 3: 87,814,186 D1133V probably damaging Het
Kcnc4 T C 3: 107,448,175 N319S probably damaging Het
Kctd1 A G 18: 15,062,637 C310R possibly damaging Het
Nefl A G 14: 68,086,077 D384G probably damaging Het
Nup107 T C 10: 117,774,493 Y348C probably damaging Het
Olfr1151 T A 2: 87,857,510 C112S possibly damaging Het
Olfr1472 T C 19: 13,453,815 K234R probably damaging Het
Phldb2 T C 16: 45,825,582 E212G probably damaging Het
Pirb A T 7: 3,717,170 N401K probably benign Het
Plcg2 T C 8: 117,621,241 F1183S possibly damaging Het
Plekhf2 A T 4: 10,991,308 N11K probably damaging Het
Slc7a11 A G 3: 50,424,067 Y241H probably benign Het
Sltm T G 9: 70,583,922 probably null Het
Taf4b A G 18: 14,897,985 T809A probably benign Het
Taf4b C A 18: 14,897,986 T809N probably benign Het
Tesk1 T C 4: 43,445,820 probably null Het
Tspan8 C T 10: 115,835,298 T120M probably damaging Het
Ttn T G 2: 76,721,383 D31275A probably damaging Het
Vcl C A 14: 20,995,970 Q334K probably damaging Het
Zfp94 G A 7: 24,311,481 probably benign Het
Zkscan17 A G 11: 59,487,415 F314S probably damaging Het
Other mutations in Nfatc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Nfatc3 APN 8 106099177 missense probably damaging 1.00
IGL02314:Nfatc3 APN 8 106078900 missense probably benign 0.21
IGL02724:Nfatc3 APN 8 106108185 missense probably benign 0.29
Kampf UTSW 8 106099150 missense probably benign 0.23
Struggles UTSW 8 106083870 nonsense probably null
PIT1430001:Nfatc3 UTSW 8 106059973 missense possibly damaging 0.78
PIT4515001:Nfatc3 UTSW 8 106079203 missense possibly damaging 0.94
R0088:Nfatc3 UTSW 8 106127942 missense possibly damaging 0.90
R0348:Nfatc3 UTSW 8 106092195 missense probably damaging 1.00
R0410:Nfatc3 UTSW 8 106096196 missense probably damaging 1.00
R1509:Nfatc3 UTSW 8 106083854 missense possibly damaging 0.46
R1702:Nfatc3 UTSW 8 106092160 missense probably damaging 1.00
R1735:Nfatc3 UTSW 8 106083834 missense probably damaging 1.00
R1736:Nfatc3 UTSW 8 106078850 missense probably damaging 1.00
R1758:Nfatc3 UTSW 8 106099136 missense probably damaging 1.00
R2370:Nfatc3 UTSW 8 106108455 missense probably damaging 1.00
R2878:Nfatc3 UTSW 8 106092144 missense probably damaging 1.00
R3802:Nfatc3 UTSW 8 106079645 missense probably damaging 0.99
R3959:Nfatc3 UTSW 8 106099077 nonsense probably null
R4006:Nfatc3 UTSW 8 106108839 missense probably benign 0.00
R4079:Nfatc3 UTSW 8 106079491 missense probably damaging 0.98
R4589:Nfatc3 UTSW 8 106079073 missense probably damaging 1.00
R4818:Nfatc3 UTSW 8 106108379 missense probably benign 0.00
R4907:Nfatc3 UTSW 8 106079727 missense probably damaging 1.00
R5042:Nfatc3 UTSW 8 106108125 missense probably benign 0.25
R5632:Nfatc3 UTSW 8 106079057 missense probably damaging 1.00
R5741:Nfatc3 UTSW 8 106079066 missense probably damaging 1.00
R5885:Nfatc3 UTSW 8 106096312 missense probably benign 0.00
R6439:Nfatc3 UTSW 8 106083870 nonsense probably null
R6557:Nfatc3 UTSW 8 106119354 missense probably benign 0.01
R6737:Nfatc3 UTSW 8 106083969 missense probably damaging 1.00
R6925:Nfatc3 UTSW 8 106119322 missense probably benign 0.00
R7260:Nfatc3 UTSW 8 106108946 missense probably benign 0.00
R7429:Nfatc3 UTSW 8 106108403 missense probably benign 0.00
R7430:Nfatc3 UTSW 8 106108403 missense probably benign 0.00
R7526:Nfatc3 UTSW 8 106079083 missense probably damaging 1.00
R7760:Nfatc3 UTSW 8 106108341 missense possibly damaging 0.66
R8783:Nfatc3 UTSW 8 106099152 missense possibly damaging 0.63
R8867:Nfatc3 UTSW 8 106079008 missense probably damaging 1.00
R8978:Nfatc3 UTSW 8 106108770 missense probably benign 0.03
R9021:Nfatc3 UTSW 8 106092113 missense probably damaging 1.00
R9066:Nfatc3 UTSW 8 106099150 missense probably benign 0.23
X0063:Nfatc3 UTSW 8 106083939 missense probably damaging 1.00
X0064:Nfatc3 UTSW 8 106108349 missense probably benign 0.04
Z1177:Nfatc3 UTSW 8 106092066 missense probably damaging 1.00
Posted On 2014-02-04