Incidental Mutation 'R1141:Nfatc4'
ID 102123
Institutional Source Beutler Lab
Gene Symbol Nfatc4
Ensembl Gene ENSMUSG00000023411
Gene Name nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4
Synonyms 3110041H08Rik
MMRRC Submission 039214-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1141 (G1)
Quality Score 218
Status Not validated
Chromosome 14
Chromosomal Location 56062252-56071400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56070088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 752 (E752V)
Ref Sequence ENSEMBL: ENSMUSP00000154682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357]
AlphaFold Q8K120
Predicted Effect probably damaging
Transcript: ENSMUST00000024179
AA Change: E822V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: E822V

DomainStartEndE-ValueType
low complexity region 18 35 N/A INTRINSIC
low complexity region 53 82 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
low complexity region 151 190 N/A INTRINSIC
low complexity region 211 224 N/A INTRINSIC
low complexity region 272 285 N/A INTRINSIC
low complexity region 286 312 N/A INTRINSIC
Pfam:RHD_DNA_bind 419 578 3.5e-23 PFAM
IPT 585 684 1.29e-21 SMART
low complexity region 700 711 N/A INTRINSIC
low complexity region 716 726 N/A INTRINSIC
low complexity region 803 825 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172271
AA Change: E822V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: E822V

DomainStartEndE-ValueType
low complexity region 18 35 N/A INTRINSIC
low complexity region 53 82 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
low complexity region 114 130 N/A INTRINSIC
low complexity region 151 190 N/A INTRINSIC
low complexity region 211 224 N/A INTRINSIC
low complexity region 272 285 N/A INTRINSIC
low complexity region 286 312 N/A INTRINSIC
Pfam:RHD 419 578 3.4e-23 PFAM
IPT 585 684 1.29e-21 SMART
low complexity region 700 711 N/A INTRINSIC
low complexity region 716 726 N/A INTRINSIC
low complexity region 803 825 N/A INTRINSIC
low complexity region 878 889 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226293
Predicted Effect probably damaging
Transcript: ENSMUST00000226357
AA Change: E752V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227746
Predicted Effect probably benign
Transcript: ENSMUST00000228308
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.0%
  • 10x: 94.1%
  • 20x: 84.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a 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 stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G A 6: 86,942,458 (GRCm39) probably null Het
Asap2 A G 12: 21,235,111 (GRCm39) N71S probably damaging Het
Brinp1 T C 4: 68,711,215 (GRCm39) H331R probably benign Het
Brinp2 C A 1: 158,074,840 (GRCm39) C427F probably damaging Het
Ccr6 A G 17: 8,474,834 (GRCm39) Y13C probably damaging Het
Celf4 T C 18: 25,637,961 (GRCm39) D187G probably damaging Het
Clcn6 T G 4: 148,098,356 (GRCm39) T556P probably damaging Het
Dst A T 1: 34,227,777 (GRCm39) Q1968L possibly damaging Het
Elavl4 G A 4: 110,108,565 (GRCm39) Q53* probably null Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gli2 T C 1: 118,765,667 (GRCm39) H828R possibly damaging Het
Gpr108 A G 17: 57,544,219 (GRCm39) V397A probably damaging Het
Lrba T C 3: 86,526,865 (GRCm39) I2241T probably damaging Het
Map3k21 G A 8: 126,668,471 (GRCm39) V686M probably benign Het
R3hdm1 G A 1: 128,159,142 (GRCm39) R939H probably benign Het
Rnf213 A G 11: 119,326,809 (GRCm39) T1599A probably benign Het
Sft2d1rt G A 11: 45,942,781 (GRCm39) A114V possibly damaging Het
Slc3a1 T C 17: 85,336,077 (GRCm39) F73S possibly damaging Het
Sppl3 TGG TG 5: 115,226,352 (GRCm39) probably null Het
Stx1b T C 7: 127,410,098 (GRCm39) probably null Het
Tnc C T 4: 63,932,231 (GRCm39) V728M probably damaging Het
Trim24 C T 6: 37,892,228 (GRCm39) H254Y probably damaging Het
Ttbk2 A G 2: 120,637,332 (GRCm39) L42P probably damaging Het
Vmn2r53 G A 7: 12,334,673 (GRCm39) T329I possibly damaging Het
Zfp174 T A 16: 3,667,321 (GRCm39) I170N probably benign Het
Zfp455 T A 13: 67,346,655 (GRCm39) L22Q probably damaging Het
Other mutations in Nfatc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Nfatc4 APN 14 56,070,019 (GRCm39) missense probably damaging 1.00
IGL01295:Nfatc4 APN 14 56,069,962 (GRCm39) missense probably benign 0.03
IGL01791:Nfatc4 APN 14 56,069,695 (GRCm39) missense probably null 0.04
IGL02536:Nfatc4 APN 14 56,067,367 (GRCm39) missense probably damaging 1.00
R0448:Nfatc4 UTSW 14 56,069,111 (GRCm39) missense possibly damaging 0.90
R0571:Nfatc4 UTSW 14 56,067,485 (GRCm39) missense probably damaging 0.96
R0743:Nfatc4 UTSW 14 56,064,101 (GRCm39) missense probably damaging 1.00
R0884:Nfatc4 UTSW 14 56,064,101 (GRCm39) missense probably damaging 1.00
R0965:Nfatc4 UTSW 14 56,064,043 (GRCm39) missense probably damaging 1.00
R2309:Nfatc4 UTSW 14 56,064,461 (GRCm39) missense probably damaging 1.00
R2680:Nfatc4 UTSW 14 56,070,291 (GRCm39) unclassified probably benign
R4200:Nfatc4 UTSW 14 56,069,489 (GRCm39) missense probably damaging 1.00
R4905:Nfatc4 UTSW 14 56,068,039 (GRCm39) missense probably benign 0.16
R5067:Nfatc4 UTSW 14 56,069,875 (GRCm39) missense probably damaging 0.98
R5202:Nfatc4 UTSW 14 56,064,116 (GRCm39) missense probably damaging 1.00
R5415:Nfatc4 UTSW 14 56,070,091 (GRCm39) missense probably benign
R5585:Nfatc4 UTSW 14 56,064,212 (GRCm39) missense probably damaging 0.98
R5599:Nfatc4 UTSW 14 56,069,733 (GRCm39) missense probably benign 0.02
R6030:Nfatc4 UTSW 14 56,069,897 (GRCm39) nonsense probably null
R6030:Nfatc4 UTSW 14 56,069,897 (GRCm39) nonsense probably null
R6172:Nfatc4 UTSW 14 56,066,990 (GRCm39) missense possibly damaging 0.83
R7292:Nfatc4 UTSW 14 56,062,512 (GRCm39) missense probably damaging 1.00
R7473:Nfatc4 UTSW 14 56,069,421 (GRCm39) missense probably benign 0.19
R7738:Nfatc4 UTSW 14 56,069,414 (GRCm39) missense possibly damaging 0.83
R8309:Nfatc4 UTSW 14 56,063,848 (GRCm39) missense probably damaging 0.99
R8445:Nfatc4 UTSW 14 56,063,875 (GRCm39) missense possibly damaging 0.85
R8853:Nfatc4 UTSW 14 56,063,690 (GRCm39) missense probably damaging 0.98
R9177:Nfatc4 UTSW 14 56,064,685 (GRCm39) missense probably damaging 1.00
R9268:Nfatc4 UTSW 14 56,064,685 (GRCm39) missense probably damaging 1.00
R9553:Nfatc4 UTSW 14 56,070,259 (GRCm39) missense probably damaging 1.00
R9667:Nfatc4 UTSW 14 56,066,964 (GRCm39) missense probably benign 0.36
Predicted Primers
Posted On 2014-01-15