Incidental Mutation 'IGL01510:Nfatc1'
ID89177
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfatc1
Ensembl Gene ENSMUSG00000033016
Gene Namenuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1
SynonymsNFATc, NFAT2, 2210017P03Rik, NF-ATc
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01510
Quality Score
Status
Chromosome18
Chromosomal Location80606205-80713071 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80698188 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 199 (Y199C)
Ref Sequence ENSEMBL: ENSMUSP00000129001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035800] [ENSMUST00000078049] [ENSMUST00000167977] [ENSMUST00000170905]
Predicted Effect probably damaging
Transcript: ENSMUST00000035800
AA Change: Y185C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046312
Gene: ENSMUSG00000033016
AA Change: Y185C

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: Y199C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077196
Gene: ENSMUSG00000033016
AA Change: Y199C

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 damaging
Transcript: ENSMUST00000167977
AA Change: Y185C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016
AA Change: Y185C

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: Y199C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016
AA Change: Y199C

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
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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,143,979 Q6R probably damaging Het
Adam5 A T 8: 24,804,465 C373S probably damaging Het
Adgre4 T C 17: 55,818,760 probably null Het
Akap10 A T 11: 61,878,020 M614K possibly damaging Het
Amigo2 T C 15: 97,245,081 T487A probably benign Het
Asap1 T C 15: 64,158,928 D300G probably damaging Het
Atp4a C A 7: 30,720,791 L788M probably benign Het
Bcl3 T A 7: 19,809,614 H309L probably damaging Het
Cblc T C 7: 19,785,275 N376S probably benign Het
Cd200r2 A T 16: 44,909,311 I110L probably benign Het
Ceacam3 T C 7: 17,159,842 M426T probably benign Het
Cep295 G A 9: 15,354,626 R29* probably null Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ctps G T 4: 120,558,844 T194K probably damaging Het
Cul3 A G 1: 80,282,679 S318P probably damaging Het
Fasl A T 1: 161,781,953 S155T possibly damaging Het
Gldc C T 19: 30,113,721 probably null Het
Gpr21 T A 2: 37,518,421 C326* probably null Het
Gtf2a1 A G 12: 91,567,833 S216P probably benign Het
Hoxb5 A T 11: 96,303,992 S127C possibly damaging Het
Htt A T 5: 34,907,512 Q3023L probably damaging Het
Kalrn T A 16: 34,235,330 H855L possibly damaging Het
Lars T C 18: 42,242,109 I289V probably benign Het
Lrig3 C A 10: 126,008,698 T677K probably damaging Het
Mapk7 A T 11: 61,491,160 W309R probably damaging Het
Mmp12 A G 9: 7,358,307 T468A possibly damaging Het
Muc5b A T 7: 141,859,061 N1915Y unknown Het
Naprt A G 15: 75,890,988 probably benign Het
Olfr857 A T 9: 19,713,279 I151F probably benign Het
Olfr919 T C 9: 38,697,905 I158V probably benign Het
Phip T A 9: 82,913,871 I566F probably benign Het
Pnpla3 T A 15: 84,171,072 probably benign Het
Ptpn13 C T 5: 103,562,300 T1567I probably damaging Het
Ptpn20 A G 14: 33,638,386 probably null Het
Ptprq G T 10: 107,712,048 T163K probably damaging Het
Slc8a1 A G 17: 81,648,365 C415R probably damaging Het
Slco4c1 A G 1: 96,867,953 S127P probably damaging Het
Tcerg1l A T 7: 138,394,305 probably benign Het
Thbd C T 2: 148,406,974 V325M probably damaging Het
Trim37 G A 11: 87,177,860 R344H probably damaging Het
Ttn T C 2: 76,872,765 probably benign Het
Uvrag G A 7: 99,004,589 Q65* probably null Het
Wrap53 G A 11: 69,562,740 S342L possibly damaging Het
Zbtb11 T G 16: 55,990,343 V288G probably damaging Het
Other mutations in Nfatc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Nfatc1 APN 18 80667026 missense probably damaging 1.00
IGL00742:Nfatc1 APN 18 80698014 missense probably benign 0.20
IGL01790:Nfatc1 APN 18 80667042 missense probably damaging 1.00
IGL02548:Nfatc1 APN 18 80697898 missense probably damaging 1.00
goldfeld UTSW 18 80697832 missense probably damaging 0.99
Original UTSW 18 80653564 splice site probably null
BB003:Nfatc1 UTSW 18 80697666 missense probably damaging 0.96
BB013:Nfatc1 UTSW 18 80697666 missense probably damaging 0.96
R0019:Nfatc1 UTSW 18 80635504 missense probably benign
R0411:Nfatc1 UTSW 18 80698042 missense possibly damaging 0.88
R0738:Nfatc1 UTSW 18 80697910 missense probably damaging 1.00
R0940:Nfatc1 UTSW 18 80635895 missense probably benign 0.03
R1458:Nfatc1 UTSW 18 80665267 splice site probably benign
R1622:Nfatc1 UTSW 18 80666967 missense probably damaging 1.00
R1845:Nfatc1 UTSW 18 80635531 missense possibly damaging 0.67
R2110:Nfatc1 UTSW 18 80635664 nonsense probably null
R2112:Nfatc1 UTSW 18 80635664 nonsense probably null
R2157:Nfatc1 UTSW 18 80635845 missense possibly damaging 0.88
R3857:Nfatc1 UTSW 18 80665275 splice site probably benign
R3859:Nfatc1 UTSW 18 80665275 splice site probably benign
R4108:Nfatc1 UTSW 18 80698368 missense possibly damaging 0.68
R4510:Nfatc1 UTSW 18 80635579 missense probably damaging 0.96
R4511:Nfatc1 UTSW 18 80635579 missense probably damaging 0.96
R4618:Nfatc1 UTSW 18 80697832 missense probably damaging 0.99
R4850:Nfatc1 UTSW 18 80697865 missense probably benign 0.30
R5329:Nfatc1 UTSW 18 80708117 start codon destroyed probably null
R5395:Nfatc1 UTSW 18 80636020 missense possibly damaging 0.80
R5468:Nfatc1 UTSW 18 80649855 missense probably benign 0.00
R5522:Nfatc1 UTSW 18 80653529 missense probably benign 0.36
R5568:Nfatc1 UTSW 18 80649822 missense probably benign 0.12
R6111:Nfatc1 UTSW 18 80697910 missense probably damaging 1.00
R6190:Nfatc1 UTSW 18 80712670 missense probably benign 0.21
R6397:Nfatc1 UTSW 18 80635941 missense probably damaging 1.00
R6943:Nfatc1 UTSW 18 80635555 missense probably damaging 1.00
R6970:Nfatc1 UTSW 18 80667013 missense probably benign 0.34
R6994:Nfatc1 UTSW 18 80653564 splice site probably null
R7679:Nfatc1 UTSW 18 80607990 missense probably benign
R7703:Nfatc1 UTSW 18 80682289 missense probably damaging 1.00
R7926:Nfatc1 UTSW 18 80697666 missense probably damaging 0.96
R8346:Nfatc1 UTSW 18 80682167 missense probably benign 0.00
R8411:Nfatc1 UTSW 18 80667042 missense probably damaging 1.00
R8480:Nfatc1 UTSW 18 80635644 missense probably benign 0.15
R8669:Nfatc1 UTSW 18 80682191 missense probably damaging 0.98
X0062:Nfatc1 UTSW 18 80697618 missense probably benign 0.29
Posted On2013-12-03