Incidental Mutation 'R5329:Nfatc1'
ID 422251
Institutional Source Beutler Lab
Gene Symbol Nfatc1
Ensembl Gene ENSMUSG00000033016
Gene Name nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1
Synonyms 2210017P03Rik, NF-ATc, NFATc, NFAT2
MMRRC Submission 042911-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5329 (G1)
Quality Score 82
Status Validated
Chromosome 18
Chromosomal Location 80649420-80756286 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 80751332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000126884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035800] [ENSMUST00000078049] [ENSMUST00000167977] [ENSMUST00000170905]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000035800
AA Change: M1K
SMART Domains Protein: ENSMUSP00000046312
Gene: ENSMUSG00000033016
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
low complexity region 156 188 N/A INTRINSIC
low complexity region 263 279 N/A INTRINSIC
Pfam:RHD 415 575 7.4e-28 PFAM
IPT 582 681 8.99e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078049
SMART Domains Protein: ENSMUSP00000077196
Gene: ENSMUSG00000033016

DomainStartEndE-ValueType
low complexity region 170 202 N/A INTRINSIC
low complexity region 277 293 N/A INTRINSIC
Pfam:RHD 429 589 1.3e-27 PFAM
IPT 596 695 8.99e-21 SMART
Predicted Effect probably null
Transcript: ENSMUST00000167977
AA Change: M1K
SMART Domains Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
low complexity region 156 188 N/A INTRINSIC
low complexity region 263 279 N/A INTRINSIC
Pfam:RHD 415 575 4.9e-28 PFAM
IPT 582 681 8.99e-21 SMART
low complexity region 832 841 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170905
SMART Domains Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016

DomainStartEndE-ValueType
low complexity region 170 202 N/A INTRINSIC
low complexity region 277 293 N/A INTRINSIC
Pfam:RHD_DNA_bind 429 589 5.1e-28 PFAM
IPT 596 695 8.99e-21 SMART
low complexity region 846 855 N/A INTRINSIC
Meta Mutation Damage Score 0.9691 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (61/62)
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 component of the nuclear factor 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. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430005L14Rik G A 4: 154,044,284 (GRCm39) V32I probably benign Het
Abcg4 A T 9: 44,190,842 (GRCm39) M19K probably benign Het
Acsm1 A G 7: 119,255,274 (GRCm39) T392A probably benign Het
Adam19 A T 11: 46,015,853 (GRCm39) I338F probably damaging Het
Adamdec1 C T 14: 68,807,612 (GRCm39) M349I probably damaging Het
Arhgef11 T A 3: 87,587,059 (GRCm39) probably benign Het
Bptf T C 11: 106,964,121 (GRCm39) D1628G probably benign Het
Camk2d C T 3: 126,391,131 (GRCm39) Q15* probably null Het
Camk2g T G 14: 20,843,999 (GRCm39) D12A possibly damaging Het
Cemip2 T C 19: 21,775,693 (GRCm39) I312T probably benign Het
Cgn T C 3: 94,687,300 (GRCm39) M1V probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Dcbld1 C A 10: 52,160,353 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Efcab3 T G 11: 104,644,632 (GRCm39) probably null Het
Espl1 T A 15: 102,220,953 (GRCm39) L903Q probably damaging Het
Gm5117 T A 8: 32,227,910 (GRCm39) noncoding transcript Het
Gm5150 T C 3: 16,017,588 (GRCm39) T228A probably benign Het
Gm5435 A T 12: 82,543,250 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,825,810 (GRCm39) C676S probably benign Het
Gstt3 C T 10: 75,610,685 (GRCm39) E230K possibly damaging Het
Jarid2 A G 13: 45,059,747 (GRCm39) I660V possibly damaging Het
Kif13a A G 13: 46,928,877 (GRCm39) probably null Het
Kntc1 T A 5: 123,902,254 (GRCm39) V299D probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipk T A 19: 33,997,613 (GRCm39) probably null Het
Loxhd1 T C 18: 77,420,378 (GRCm39) L334P probably damaging Het
Macc1 T A 12: 119,410,212 (GRCm39) Y327N probably damaging Het
Man2a2 G A 7: 80,010,876 (GRCm39) S705L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Ncam2 A T 16: 81,231,707 (GRCm39) Q57L probably damaging Het
Nedd1 T C 10: 92,522,102 (GRCm39) E645G probably damaging Het
Nlrp9b A T 7: 19,757,916 (GRCm39) R384S probably damaging Het
Nrxn3 A G 12: 89,780,354 (GRCm39) H62R possibly damaging Het
Or2h2b-ps1 T A 17: 37,480,891 (GRCm39) Y216F probably damaging Het
Or4c125 T A 2: 89,169,803 (GRCm39) Y281F probably damaging Het
Or51i1 T C 7: 103,671,204 (GRCm39) H107R probably damaging Het
Or8b39 A T 9: 37,996,422 (GRCm39) M97L probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pdzph1 T A 17: 59,281,875 (GRCm39) I136F probably damaging Het
Pigg T C 5: 108,462,026 (GRCm39) I119T probably damaging Het
R3hdm2 A G 10: 127,294,762 (GRCm39) H215R probably damaging Het
Septin14 C T 5: 129,762,978 (GRCm39) probably null Het
Slc9a3 T C 13: 74,299,079 (GRCm39) M166T possibly damaging Het
Spock3 A G 8: 63,798,816 (GRCm39) D279G probably damaging Het
Suco T C 1: 161,660,999 (GRCm39) I967V probably damaging Het
Tgtp1 A G 11: 48,878,003 (GRCm39) L234P probably damaging Het
Tmem176a A G 6: 48,819,151 (GRCm39) D4G probably benign Het
Ugt1a10 G A 1: 88,143,976 (GRCm39) A199T probably damaging Het
Uox A G 3: 146,330,300 (GRCm39) D152G probably damaging Het
Vmn1r35 C T 6: 66,656,490 (GRCm39) W60* probably null Het
Vmn2r103 T C 17: 20,032,433 (GRCm39) C736R probably damaging Het
Other mutations in Nfatc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Nfatc1 APN 18 80,710,241 (GRCm39) missense probably damaging 1.00
IGL00742:Nfatc1 APN 18 80,741,229 (GRCm39) missense probably benign 0.20
IGL01510:Nfatc1 APN 18 80,741,403 (GRCm39) missense probably damaging 1.00
IGL01790:Nfatc1 APN 18 80,710,257 (GRCm39) missense probably damaging 1.00
IGL02548:Nfatc1 APN 18 80,741,113 (GRCm39) missense probably damaging 1.00
goldfeld UTSW 18 80,741,047 (GRCm39) missense probably damaging 0.99
Instrumenten UTSW 18 80,725,406 (GRCm39) missense probably damaging 0.98
Original UTSW 18 80,696,779 (GRCm39) splice site probably null
BB003:Nfatc1 UTSW 18 80,740,881 (GRCm39) missense probably damaging 0.96
BB013:Nfatc1 UTSW 18 80,740,881 (GRCm39) missense probably damaging 0.96
R0019:Nfatc1 UTSW 18 80,678,719 (GRCm39) missense probably benign
R0411:Nfatc1 UTSW 18 80,741,257 (GRCm39) missense possibly damaging 0.88
R0738:Nfatc1 UTSW 18 80,741,125 (GRCm39) missense probably damaging 1.00
R0940:Nfatc1 UTSW 18 80,679,110 (GRCm39) missense probably benign 0.03
R1458:Nfatc1 UTSW 18 80,708,482 (GRCm39) splice site probably benign
R1622:Nfatc1 UTSW 18 80,710,182 (GRCm39) missense probably damaging 1.00
R1845:Nfatc1 UTSW 18 80,678,746 (GRCm39) missense possibly damaging 0.67
R2110:Nfatc1 UTSW 18 80,678,879 (GRCm39) nonsense probably null
R2112:Nfatc1 UTSW 18 80,678,879 (GRCm39) nonsense probably null
R2157:Nfatc1 UTSW 18 80,679,060 (GRCm39) missense possibly damaging 0.88
R3857:Nfatc1 UTSW 18 80,708,490 (GRCm39) splice site probably benign
R3859:Nfatc1 UTSW 18 80,708,490 (GRCm39) splice site probably benign
R4108:Nfatc1 UTSW 18 80,741,583 (GRCm39) missense possibly damaging 0.68
R4510:Nfatc1 UTSW 18 80,678,794 (GRCm39) missense probably damaging 0.96
R4511:Nfatc1 UTSW 18 80,678,794 (GRCm39) missense probably damaging 0.96
R4618:Nfatc1 UTSW 18 80,741,047 (GRCm39) missense probably damaging 0.99
R4850:Nfatc1 UTSW 18 80,741,080 (GRCm39) missense probably benign 0.30
R5395:Nfatc1 UTSW 18 80,679,235 (GRCm39) missense possibly damaging 0.80
R5468:Nfatc1 UTSW 18 80,693,070 (GRCm39) missense probably benign 0.00
R5522:Nfatc1 UTSW 18 80,696,744 (GRCm39) missense probably benign 0.36
R5568:Nfatc1 UTSW 18 80,693,037 (GRCm39) missense probably benign 0.12
R6111:Nfatc1 UTSW 18 80,741,125 (GRCm39) missense probably damaging 1.00
R6190:Nfatc1 UTSW 18 80,755,885 (GRCm39) missense probably benign 0.21
R6397:Nfatc1 UTSW 18 80,679,156 (GRCm39) missense probably damaging 1.00
R6943:Nfatc1 UTSW 18 80,678,770 (GRCm39) missense probably damaging 1.00
R6970:Nfatc1 UTSW 18 80,710,228 (GRCm39) missense probably benign 0.34
R6994:Nfatc1 UTSW 18 80,696,779 (GRCm39) splice site probably null
R7679:Nfatc1 UTSW 18 80,651,205 (GRCm39) missense probably benign
R7703:Nfatc1 UTSW 18 80,725,504 (GRCm39) missense probably damaging 1.00
R7926:Nfatc1 UTSW 18 80,740,881 (GRCm39) missense probably damaging 0.96
R8346:Nfatc1 UTSW 18 80,725,382 (GRCm39) missense probably benign 0.00
R8411:Nfatc1 UTSW 18 80,710,257 (GRCm39) missense probably damaging 1.00
R8480:Nfatc1 UTSW 18 80,678,859 (GRCm39) missense probably benign 0.15
R8669:Nfatc1 UTSW 18 80,725,406 (GRCm39) missense probably damaging 0.98
R8928:Nfatc1 UTSW 18 80,741,180 (GRCm39) missense possibly damaging 0.82
R9194:Nfatc1 UTSW 18 80,751,258 (GRCm39) missense probably benign 0.04
R9281:Nfatc1 UTSW 18 80,741,190 (GRCm39) missense probably damaging 1.00
R9517:Nfatc1 UTSW 18 80,725,406 (GRCm39) missense probably damaging 0.98
R9562:Nfatc1 UTSW 18 80,678,916 (GRCm39) missense probably damaging 1.00
R9636:Nfatc1 UTSW 18 80,706,611 (GRCm39) missense possibly damaging 0.50
X0062:Nfatc1 UTSW 18 80,740,833 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- ACAACCTCCCCTTGGGTAAG -3'
(R):5'- TTATTTAAAACTAGGAAGCCGGCG -3'

Sequencing Primer
(F):5'- TGCTCCGATGCCAGGAAGTG -3'
(R):5'- CGCTTGTTTATGTAAACCCG -3'
Posted On 2016-08-04