Incidental Mutation 'R4618:Nfatc1'
ID 345142
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 041884-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4618 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 80649420-80756286 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80741047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 318 (I318V)
Ref Sequence ENSEMBL: ENSMUSP00000077196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035800] [ENSMUST00000078049] [ENSMUST00000167977] [ENSMUST00000170905]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035800
AA Change: I304V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046312
Gene: ENSMUSG00000033016
AA Change: I304V

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 damaging
Transcript: ENSMUST00000078049
AA Change: I318V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077196
Gene: ENSMUSG00000033016
AA Change: I318V

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 possibly damaging
Transcript: ENSMUST00000167977
AA Change: I304V

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016
AA Change: I304V

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 damaging
Transcript: ENSMUST00000170905
AA Change: I318V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016
AA Change: I318V

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 0.1039 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (89/91)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A T 3: 121,473,095 (GRCm39) K83N unknown Het
Adamtsl3 T A 7: 82,255,728 (GRCm39) M1580K probably benign Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Akap3 G T 6: 126,843,406 (GRCm39) C675F probably benign Het
Asap1 A T 15: 64,024,744 (GRCm39) H318Q probably damaging Het
Atf7ip G T 6: 136,542,104 (GRCm39) A18S probably damaging Het
Bcl2a1a A C 9: 88,839,357 (GRCm39) N85T probably damaging Het
Btnl6 G A 17: 34,733,120 (GRCm39) P248S probably damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Ccdc14 T A 16: 34,526,865 (GRCm39) C257S probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cstdc3 T A 16: 36,132,952 (GRCm39) D76E possibly damaging Het
Endou C T 15: 97,611,763 (GRCm39) V292M possibly damaging Het
Fbxo36 T C 1: 84,877,749 (GRCm39) I137T probably damaging Het
Fcer1a T C 1: 173,050,208 (GRCm39) I161V possibly damaging Het
Fsip2 A G 2: 82,818,103 (GRCm39) Y4612C probably benign Het
Gcnt2 T A 13: 41,111,670 (GRCm39) L353* probably null Het
Ghrhr T C 6: 55,358,739 (GRCm39) F172S probably damaging Het
Gins1 T A 2: 150,759,781 (GRCm39) probably null Het
Gm16519 T G 17: 71,236,237 (GRCm39) L62R probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Greb1l A G 18: 10,498,965 (GRCm39) T283A probably benign Het
Grin2c T A 11: 115,143,573 (GRCm39) D729V probably damaging Het
Heatr4 T G 12: 84,024,841 (GRCm39) T327P probably damaging Het
Hes2 A C 4: 152,244,845 (GRCm39) S105R probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itih1 A T 14: 30,651,788 (GRCm39) D851E probably benign Het
Klhdc7b A G 15: 89,271,472 (GRCm39) T785A probably benign Het
Lmbr1 G T 5: 29,551,863 (GRCm39) A74E probably damaging Het
Lonp1 A C 17: 56,929,511 (GRCm39) H175Q probably benign Het
Maml2 T C 9: 13,531,371 (GRCm39) F195S probably damaging Het
Man2b2 G T 5: 36,974,983 (GRCm39) T436K probably benign Het
Man2c1 T C 9: 57,049,439 (GRCm39) probably null Het
Mrps15 G A 4: 125,940,837 (GRCm39) probably benign Het
Mtrf1l C A 10: 5,767,586 (GRCm39) V177F probably benign Het
Naxd A T 8: 11,559,489 (GRCm39) I213F probably damaging Het
Nbeal1 T A 1: 60,267,890 (GRCm39) probably benign Het
Nid2 T A 14: 19,858,078 (GRCm39) I1297N probably damaging Het
Nol10 T C 12: 17,398,562 (GRCm39) V3A probably damaging Het
Nop14 G T 5: 34,796,562 (GRCm39) P765Q probably damaging Het
Noxa1 C T 2: 24,981,761 (GRCm39) G114D probably damaging Het
Ntmt2 A T 1: 163,552,597 (GRCm39) F10I probably damaging Het
Opa1 T C 16: 29,405,857 (GRCm39) W141R probably damaging Het
Or10a2 G A 7: 106,673,761 (GRCm39) C242Y probably damaging Het
Or13p4 A T 4: 118,546,667 (GRCm39) probably benign Het
Or5d18 A G 2: 87,864,898 (GRCm39) V195A probably benign Het
Or8h10 A G 2: 86,808,618 (GRCm39) I174T possibly damaging Het
Pde4d A T 13: 110,070,411 (GRCm39) M7L probably benign Het
Phykpl G A 11: 51,483,056 (GRCm39) A188T probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pkhd1l1 T A 15: 44,403,078 (GRCm39) V2260D probably damaging Het
Ptprt T C 2: 161,395,765 (GRCm39) E1136G probably damaging Het
Rad21 A T 15: 51,833,420 (GRCm39) L353Q probably damaging Het
Rfx4 G T 10: 84,716,760 (GRCm39) A425S probably benign Het
Rnf38 A G 4: 44,142,450 (GRCm39) S169P probably damaging Het
Samd9l C A 6: 3,376,347 (GRCm39) V305F probably damaging Het
Serpini1 A G 3: 75,523,883 (GRCm39) K164E probably benign Het
Sirt6 A G 10: 81,462,408 (GRCm39) L37P probably damaging Het
Sorbs1 T C 19: 40,361,962 (GRCm39) T141A probably damaging Het
Tacc2 A T 7: 130,227,946 (GRCm39) T1563S probably benign Het
Tbc1d14 A C 5: 36,687,725 (GRCm39) probably benign Het
Tbrg4 G A 11: 6,570,185 (GRCm39) probably benign Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tpp1 A T 7: 105,400,913 (GRCm39) L38Q probably benign Het
Trhr A G 15: 44,061,037 (GRCm39) N186D probably benign Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Tsen54 T A 11: 115,706,247 (GRCm39) probably benign Het
Tsg101 A G 7: 46,542,257 (GRCm39) I138T possibly damaging Het
Usp22 A G 11: 61,052,269 (GRCm39) S237P probably damaging Het
Vmn1r209 A G 13: 22,990,619 (GRCm39) S24P possibly damaging Het
Vmn2r18 A T 5: 151,508,424 (GRCm39) H233Q possibly damaging Het
Vmn2r45 A T 7: 8,486,436 (GRCm39) I284N probably benign Het
Vmn2r66 T C 7: 84,644,296 (GRCm39) I705V possibly damaging Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zdhhc11 T A 13: 74,127,349 (GRCm39) M242K probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R probably benign 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
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
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'- AGGTGCTGGAAGGTGTACTC -3'
(R):5'- AAGCTGTAACTCTGAGGCCTCC -3'

Sequencing Primer
(F):5'- TACTCCTCGGGTGGGAAGTCAG -3'
(R):5'- TTTTCCCCGAAGCCTGGGTG -3'
Posted On 2015-09-25