Incidental Mutation 'R6172:Nfatc4'
ID 488266
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 044315-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6172 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 56062252-56071400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56066990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 510 (T510A)
Ref Sequence ENSEMBL: ENSMUSP00000132763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357] [ENSMUST00000226979]
AlphaFold Q8K120
Predicted Effect possibly damaging
Transcript: ENSMUST00000024179
AA Change: T510A

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: T510A

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 possibly damaging
Transcript: ENSMUST00000172271
AA Change: T510A

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: T510A

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 possibly damaging
Transcript: ENSMUST00000226357
AA Change: T440A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226716
Predicted Effect unknown
Transcript: ENSMUST00000228308
AA Change: T22A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226834
Predicted Effect probably benign
Transcript: ENSMUST00000226979
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 A T 9: 9,148,246 (GRCm39) C108S possibly damaging Het
Bbs2 T C 8: 94,814,039 (GRCm39) E193G probably benign Het
Bpifb2 C A 2: 153,732,332 (GRCm39) H310Q probably benign Het
Cand2 A G 6: 115,768,271 (GRCm39) E472G probably benign Het
Cd81 A G 7: 142,606,691 (GRCm39) probably benign Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Cstf3 T C 2: 104,481,987 (GRCm39) V276A probably damaging Het
Ehd4 G A 2: 119,932,737 (GRCm39) Q230* probably null Het
Erich3 A G 3: 154,469,978 (GRCm39) T4A possibly damaging Het
Erlin2 T G 8: 27,526,123 (GRCm39) probably null Het
Exosc1 C A 19: 41,912,442 (GRCm39) Q148H probably damaging Het
Fbxw27 A T 9: 109,601,337 (GRCm39) V261E probably damaging Het
Flrt2 T A 12: 95,746,305 (GRCm39) N214K probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Frk T C 10: 34,467,961 (GRCm39) L325P probably damaging Het
Gm21698 T C 5: 26,192,371 (GRCm39) I72V probably benign Het
Gm39115 A T 7: 141,689,651 (GRCm39) C41S unknown Het
Hectd1 G A 12: 51,816,065 (GRCm39) P1336S probably damaging Het
Ighv7-1 T C 12: 113,860,183 (GRCm39) S70G probably damaging Het
Itga10 T C 3: 96,554,753 (GRCm39) I78T probably benign Het
Itgb4 A G 11: 115,891,237 (GRCm39) H1218R probably benign Het
Marchf6 A T 15: 31,483,013 (GRCm39) N463K possibly damaging Het
Muc5b A C 7: 141,412,513 (GRCm39) T1820P unknown Het
Nwd2 G T 5: 63,964,249 (GRCm39) V1278F probably damaging Het
Or52n2c A C 7: 104,574,503 (GRCm39) M156R probably benign Het
Or7g19 A G 9: 18,856,042 (GRCm39) T33A probably benign Het
P2rx1 G A 11: 72,900,856 (GRCm39) V209M probably damaging Het
Pkn1 T C 8: 84,397,384 (GRCm39) K874R possibly damaging Het
Plec C T 15: 76,056,576 (GRCm39) V4444I probably damaging Het
Ppp1r37 A T 7: 19,266,329 (GRCm39) M479K possibly damaging Het
Prr11 A C 11: 86,994,449 (GRCm39) F66V probably benign Het
Rbbp5 A G 1: 132,424,554 (GRCm39) D268G possibly damaging Het
Rbbp6 T A 7: 122,597,778 (GRCm39) Y734* probably null Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Rhou A G 8: 124,387,903 (GRCm39) K212E probably benign Het
Rsph1 G A 17: 31,492,392 (GRCm39) T58I probably benign Het
Serpina3m A G 12: 104,355,486 (GRCm39) N51S probably damaging Het
Shisa6 A T 11: 66,108,832 (GRCm39) D348E probably benign Het
Slc6a5 T A 7: 49,598,081 (GRCm39) Y648* probably null Het
Stag3 A G 5: 138,298,105 (GRCm39) D699G probably benign Het
Terf2ip A T 8: 112,744,649 (GRCm39) D322V probably damaging Het
Vmn1r125 A T 7: 21,006,275 (GRCm39) M58L probably benign Het
Wdr49 T A 3: 75,205,487 (GRCm39) D643V 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
R1141:Nfatc4 UTSW 14 56,070,088 (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
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 PCR Primer
(F):5'- GCTCCTAGGCTACAGTGAGAAG -3'
(R):5'- ACTAGTGTCTAGCTAGGGGTGC -3'

Sequencing Primer
(F):5'- AGCCATTGACTCTGCAGATG -3'
(R):5'- TGGCCTCTCCAGAAAGCTC -3'
Posted On 2017-10-10