Incidental Mutation 'R0940:Nfatc1'
ID 81471
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 039079-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0940 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 80649420-80756286 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80679110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 759 (M759I)
Ref Sequence ENSEMBL: ENSMUSP00000129001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078049] [ENSMUST00000167977] [ENSMUST00000170905]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000078049
AA Change: M759I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000077196
Gene: ENSMUSG00000033016
AA Change: M759I

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 benign
Transcript: ENSMUST00000167977
AA Change: M745I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126884
Gene: ENSMUSG00000033016
AA Change: M745I

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
AA Change: M759I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129001
Gene: ENSMUSG00000033016
AA Change: M759I

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 0.0637 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 100% (68/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
2610021A01Rik T G 7: 41,275,858 (GRCm39) I520M probably damaging Het
Ackr4 A G 9: 103,976,831 (GRCm39) F39L probably damaging Het
Adgre5 C T 8: 84,460,126 (GRCm39) S92N probably damaging Het
Adrb2 T C 18: 62,312,762 (GRCm39) D21G probably benign Het
Akr1c6 G A 13: 4,486,372 (GRCm39) E60K probably benign Het
Bcl7c T A 7: 127,306,503 (GRCm39) N96I possibly damaging Het
Brca1 A T 11: 101,422,969 (GRCm39) S106R possibly damaging Het
C6 A T 15: 4,764,717 (GRCm39) T138S probably benign Het
Cul3 T C 1: 80,300,564 (GRCm39) probably benign Het
Dnah8 T A 17: 31,022,217 (GRCm39) M3939K probably damaging Het
Dock4 T A 12: 40,681,626 (GRCm39) probably benign Het
Dsc2 T G 18: 20,183,116 (GRCm39) T101P probably damaging Het
Dynlt1b T C 17: 6,697,649 (GRCm39) probably benign Het
E330013P04Rik A G 19: 60,150,354 (GRCm39) noncoding transcript Het
Fggy A G 4: 95,585,238 (GRCm39) E39G probably benign Het
Fhip1a A G 3: 85,572,797 (GRCm39) V952A possibly damaging Het
Fmo6 A T 1: 162,753,795 (GRCm39) C116S probably benign Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gmps A G 3: 63,883,743 (GRCm39) probably benign Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Hnrnpm G A 17: 33,868,976 (GRCm39) R523C probably damaging Het
Inpp5a T C 7: 139,105,654 (GRCm39) Y202H probably damaging Het
Kank3 C T 17: 34,036,450 (GRCm39) S106F probably damaging Het
Lmcd1 A G 6: 112,305,658 (GRCm39) D253G probably benign Het
Lrrk2 A T 15: 91,613,284 (GRCm39) I803F possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Mycbp2 A T 14: 103,500,129 (GRCm39) probably benign Het
Myh4 A T 11: 67,133,689 (GRCm39) N243Y probably damaging Het
Myorg A G 4: 41,497,996 (GRCm39) Y545H probably damaging Het
Nipal4 A G 11: 46,041,139 (GRCm39) I352T possibly damaging Het
Nomo1 A G 7: 45,683,329 (GRCm39) E25G possibly damaging Het
Or10j27 A G 1: 172,958,020 (GRCm39) S255P probably benign Het
Or13a19 T C 7: 139,903,065 (GRCm39) I151T probably benign Het
Or14j7 A G 17: 38,234,591 (GRCm39) I45V probably damaging Het
Or1e32 T C 11: 73,705,050 (GRCm39) N286S probably damaging Het
Or4c116 T A 2: 88,942,419 (GRCm39) I146L probably benign Het
Or5p66 T C 7: 107,886,264 (GRCm39) D23G probably benign Het
Pabpn1l A G 8: 123,349,183 (GRCm39) V78A probably benign Het
Pde6b T A 5: 108,568,203 (GRCm39) I327N possibly damaging Het
Phrf1 T C 7: 140,834,768 (GRCm39) probably benign Het
Pkm C T 9: 59,575,818 (GRCm39) probably benign Het
Plxna2 G A 1: 194,482,863 (GRCm39) V1519I probably benign Het
Ppp2cb T C 8: 34,105,689 (GRCm39) probably null Het
Prickle2 A G 6: 92,387,984 (GRCm39) Y473H probably benign Het
Prpf3 A G 3: 95,751,535 (GRCm39) W389R probably damaging Het
Psme4 G A 11: 30,765,264 (GRCm39) E544K possibly damaging Het
Relb A T 7: 19,345,767 (GRCm39) D395E probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,307,389 (GRCm39) N683S probably benign Het
Rtel1 T C 2: 180,964,596 (GRCm39) C102R probably benign Het
Sel1l3 C T 5: 53,301,379 (GRCm39) probably benign Het
Slc8a2 A G 7: 15,878,887 (GRCm39) T458A probably benign Het
Smc3 T A 19: 53,629,340 (GRCm39) M931K probably benign Het
Sorbs2 T C 8: 46,249,539 (GRCm39) V795A probably benign Het
Tgm3 A G 2: 129,854,326 (GRCm39) S2G probably benign Het
Tpbpa T C 13: 61,087,867 (GRCm39) T75A probably damaging Het
Trub1 A G 19: 57,473,495 (GRCm39) probably benign Het
Uggt2 A G 14: 119,328,604 (GRCm39) probably null Het
Ugt2a3 A G 5: 87,475,065 (GRCm39) V393A possibly damaging Het
Vav3 T A 3: 109,470,151 (GRCm39) M532K possibly damaging Het
Zfp616 A T 11: 73,975,850 (GRCm39) K706N probably damaging Het
Zkscan1 T C 5: 138,091,432 (GRCm39) F55S 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
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
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'- GCTACTGTTCAGATGTGGACTCACC -3'
(R):5'- TGTGACTTTCTCAGCCAGTGACG -3'

Sequencing Primer
(F):5'- CTGTAGCCTGGCGGATG -3'
(R):5'- AGCCTACCCATCTGCAACTTATG -3'
Posted On 2013-11-07