Incidental Mutation 'R6994:Nfatc1'
ID 568425
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 045100-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6994 (G1)
Quality Score 176.009
Status Validated
Chromosome 18
Chromosomal Location 80649420-80756286 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 80696779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129001 (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
SMART Domains Protein: ENSMUSP00000046312
Gene: ENSMUSG00000033016

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 null
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
SMART Domains Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016

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 null
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 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (82/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T G 4: 144,349,849 (GRCm39) W369G probably damaging Het
Abhd16b C T 2: 181,135,461 (GRCm39) T121M possibly damaging Het
Adam5 A T 8: 25,276,262 (GRCm39) C468* probably null Het
Aim2 C T 1: 173,283,152 (GRCm39) A78V possibly damaging Het
Alg9 G A 9: 50,703,422 (GRCm39) W254* probably null Het
Ankrd55 G C 13: 112,504,834 (GRCm39) E499Q probably benign Het
Atp6v0a2 T C 5: 124,791,209 (GRCm39) F546S probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Bpi A T 2: 158,100,164 (GRCm39) probably benign Het
Bves A G 10: 45,215,514 (GRCm39) H63R probably benign Het
Ccdc183 T C 2: 25,507,057 (GRCm39) M45V probably benign Het
Cfhr4 T A 1: 139,664,668 (GRCm39) I464L possibly damaging Het
Cmklr1 T C 5: 113,752,983 (GRCm39) Y6C probably damaging Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Ctsm T A 13: 61,687,698 (GRCm39) E53D probably damaging Het
Cyp2a22 A G 7: 26,638,606 (GRCm39) probably null Het
Ddx10 A G 9: 53,115,411 (GRCm39) V641A probably damaging Het
Ddx6 T C 9: 44,540,020 (GRCm39) V316A probably damaging Het
Dhx34 T C 7: 15,937,799 (GRCm39) D767G probably benign Het
Dnaaf6rt T C 1: 31,261,990 (GRCm39) probably benign Het
Dtnbp1 T A 13: 45,155,405 (GRCm39) D15V probably damaging Het
Dtx3l C T 16: 35,751,742 (GRCm39) probably null Het
Entpd8 T C 2: 24,973,321 (GRCm39) I162T probably damaging Het
Fam186a G T 15: 99,840,347 (GRCm39) Q1966K probably benign Het
Fbxo27 A C 7: 28,392,785 (GRCm39) D22A probably damaging Het
Fermt3 A T 19: 6,977,095 (GRCm39) I577N probably damaging Het
Frmd8 A T 19: 5,923,209 (GRCm39) S81T probably damaging Het
Gm5108 T A 5: 68,102,012 (GRCm39) probably benign Het
Gm9195 T C 14: 72,718,271 (GRCm39) Y135C probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Kcnh8 A T 17: 53,284,723 (GRCm39) I898F probably benign Het
Kri1 C T 9: 21,199,083 (GRCm39) probably benign Het
Krt32 T A 11: 99,977,271 (GRCm39) I210F probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Lpin3 C T 2: 160,746,803 (GRCm39) P766L probably damaging Het
Macroh2a1 T C 13: 56,237,643 (GRCm39) N206D probably benign Het
Marf1 T C 16: 13,946,721 (GRCm39) T1169A probably damaging Het
Morc1 G A 16: 48,385,984 (GRCm39) V536M probably benign Het
Morc1 A T 16: 48,438,909 (GRCm39) H768L probably benign Het
Mpped2 T A 2: 106,529,878 (GRCm39) H42Q possibly damaging Het
Nfkbid G A 7: 30,125,192 (GRCm39) S263N probably benign Het
Npas3 C A 12: 54,115,576 (GRCm39) Q802K probably damaging Het
Or52s1b T C 7: 102,822,119 (GRCm39) T242A probably damaging Het
Or5ac20 T G 16: 59,104,453 (GRCm39) M136L possibly damaging Het
Or5p67 T A 7: 107,922,101 (GRCm39) I261F possibly damaging Het
Pabpc4l C A 3: 46,401,345 (GRCm39) V100L possibly damaging Het
Pagr1a A G 7: 126,615,613 (GRCm39) probably null Het
Pcdh1 A T 18: 38,331,553 (GRCm39) N483K probably damaging Het
Pikfyve C A 1: 65,291,689 (GRCm39) P1303T probably damaging Het
Plekhh3 T A 11: 101,056,519 (GRCm39) probably null Het
Pnkd T A 1: 74,332,335 (GRCm39) probably null Het
Pparg A T 6: 115,428,011 (GRCm39) Q166L probably benign Het
Psenen A G 7: 30,262,932 (GRCm39) probably null Het
Rab4a T C 8: 124,557,105 (GRCm39) S142P probably damaging Het
Reg3a T C 6: 78,358,132 (GRCm39) V21A probably benign Het
Relt A C 7: 100,502,321 (GRCm39) probably benign Het
Rftn1 T A 17: 50,344,019 (GRCm39) T90S possibly damaging Het
Ripor3 T G 2: 167,839,186 (GRCm39) D105A probably damaging Het
Rnase10 T A 14: 51,247,138 (GRCm39) I135N probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rttn A G 18: 89,047,023 (GRCm39) E895G probably damaging Het
Serpina3a G A 12: 104,079,089 (GRCm39) probably null Het
Slco5a1 C T 1: 12,951,617 (GRCm39) C562Y probably damaging Het
Spen T C 4: 141,220,770 (GRCm39) T396A unknown Het
Tgfbr3 A G 5: 107,280,892 (GRCm39) S623P probably damaging Het
Tmem8b A G 4: 43,690,192 (GRCm39) I876V probably damaging Het
Tmod3 T C 9: 75,416,669 (GRCm39) K221R probably damaging Het
Tomm40 G T 7: 19,436,831 (GRCm39) D40E probably damaging Het
Trav6d-4 G T 14: 52,991,048 (GRCm39) G28V probably damaging Het
Trav8d-2 G T 14: 53,279,933 (GRCm39) A17S probably benign Het
Triml2 T C 8: 43,643,115 (GRCm39) C158R possibly damaging Het
Trip10 A G 17: 57,562,331 (GRCm39) E283G probably damaging Het
Tubb2b T C 13: 34,311,518 (GRCm39) Y425C probably damaging Het
Ubr1 T C 2: 120,794,074 (GRCm39) T37A probably benign Het
Unc13b A G 4: 43,171,403 (GRCm39) probably benign Het
Unc13b A G 4: 43,173,203 (GRCm39) probably benign Het
Vcan A T 13: 89,841,526 (GRCm39) D379E possibly damaging Het
Vmn1r44 T A 6: 89,871,140 (GRCm39) H295Q probably benign Het
Vmn2r16 A T 5: 109,487,969 (GRCm39) S281C probably damaging Het
Vmn2r84 C T 10: 130,226,876 (GRCm39) A321T possibly damaging Het
Vsig10l A T 7: 43,114,491 (GRCm39) H271L possibly damaging Het
Vwa8 A T 14: 79,145,596 (GRCm39) H91L possibly damaging Het
Zfp957 T A 14: 79,451,130 (GRCm39) E223V 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
R5329:Nfatc1 UTSW 18 80,751,332 (GRCm39) start codon destroyed probably null
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
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'- CTCATTTGGCCAAGGGATTTG -3'
(R):5'- TGAACTCACCAAGTACACAGGG -3'

Sequencing Primer
(F):5'- CAAGGGATTTGGGCAATGC -3'
(R):5'- TACTCTAGAGCAGGTCAGCACATG -3'
Posted On 2019-07-19