Incidental Mutation 'R9667:Nfatc4'
ID 727882
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9667 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 56062252-56071400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56066964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 501 (V501A)
Ref Sequence ENSEMBL: ENSMUSP00000024179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357] [ENSMUST00000226979]
AlphaFold Q8K120
Predicted Effect probably benign
Transcript: ENSMUST00000024179
AA Change: V501A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: V501A

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 benign
Transcript: ENSMUST00000172271
AA Change: V501A

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: V501A

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 probably benign
Transcript: ENSMUST00000226357
AA Change: V431A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000226979
Predicted Effect probably benign
Transcript: ENSMUST00000228308
AA Change: V13A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,890,645 (GRCm39) Q355* probably null Het
Aacs A T 5: 125,580,691 (GRCm39) N255I possibly damaging Het
Abcf2 A G 5: 24,779,185 (GRCm39) L121P probably damaging Het
Amigo1 A G 3: 108,095,034 (GRCm39) I178V probably benign Het
Ankrd13a T A 5: 114,933,793 (GRCm39) N262K probably damaging Het
Apba2 A G 7: 64,345,062 (GRCm39) E84G possibly damaging Het
Arhgap35 A T 7: 16,296,914 (GRCm39) L717* probably null Het
Aspa A T 11: 73,199,625 (GRCm39) C217* probably null Het
Atp5mc3 A G 2: 73,739,567 (GRCm39) I91T probably damaging Het
Birc6 T C 17: 75,004,420 (GRCm39) M4763T possibly damaging Het
Cc2d2b A G 19: 40,753,927 (GRCm39) Y150C unknown Het
Ccdc180 C T 4: 45,920,861 (GRCm39) Q936* probably null Het
Cdc42bpg A G 19: 6,370,115 (GRCm39) E1103G probably benign Het
Cdca2 T C 14: 67,915,003 (GRCm39) Q752R probably benign Het
Ces1b A T 8: 93,791,637 (GRCm39) S321T probably benign Het
Cfap70 A T 14: 20,490,690 (GRCm39) probably null Het
Cpox C T 16: 58,490,984 (GRCm39) T65I possibly damaging Het
Crocc C T 4: 140,748,988 (GRCm39) E1606K probably damaging Het
Cryzl2 T G 1: 157,316,038 (GRCm39) M337R probably benign Het
Cyp4a29 C A 4: 115,111,630 (GRCm39) A469D probably damaging Het
Dnaaf1 T A 8: 120,306,043 (GRCm39) Y107N possibly damaging Het
Dpp6 T A 5: 27,930,604 (GRCm39) I812N probably damaging Het
Elovl5 A G 9: 77,889,947 (GRCm39) T253A possibly damaging Het
Fancd2 T A 6: 113,530,717 (GRCm39) L450* probably null Het
Fbxo31 C T 8: 122,305,208 (GRCm39) R96H probably damaging Het
Gls A T 1: 52,230,036 (GRCm39) probably null Het
Gm3045 G A 13: 56,577,253 (GRCm39) E134K possibly damaging Het
Gpr158 A G 2: 21,830,054 (GRCm39) I700V probably damaging Het
H2-Aa T C 17: 34,502,295 (GRCm39) I209V probably benign Het
Ifnar2 A G 16: 91,184,984 (GRCm39) D125G probably benign Het
Igsf8 C A 1: 172,145,319 (GRCm39) D278E possibly damaging Het
Inpp5d T C 1: 87,623,128 (GRCm39) I407T probably damaging Het
Iqcd A G 5: 120,744,737 (GRCm39) E355G probably damaging Het
Klra2 T A 6: 131,219,836 (GRCm39) D115V probably benign Het
Kmt2b T C 7: 30,287,784 (GRCm39) E120G unknown Het
Lhx6 A G 2: 35,980,979 (GRCm39) I321T possibly damaging Het
Lmna CAGCACGGTGCGTGAGC CAGC 3: 88,389,857 (GRCm39) probably null Het
Lztr1 T C 16: 17,327,000 (GRCm39) Y37H probably damaging Het
Malrd1 A T 2: 15,570,026 (GRCm39) probably null Het
Mtmr3 C T 11: 4,470,890 (GRCm39) V79I probably damaging Het
Nbr1 A G 11: 101,451,261 (GRCm39) I56M possibly damaging Het
Ncor2 C T 5: 125,125,545 (GRCm39) A580T unknown Het
Ndst3 A G 3: 123,353,866 (GRCm39) I601T possibly damaging Het
Nectin4 C A 1: 171,210,165 (GRCm39) P219Q probably damaging Het
Nisch T C 14: 30,895,646 (GRCm39) T1015A probably damaging Het
Nr2c1 T C 10: 94,017,479 (GRCm39) probably null Het
Nrg2 T C 18: 36,165,430 (GRCm39) E394G probably benign Het
Oas1e A G 5: 120,932,347 (GRCm39) F99L probably benign Het
Oaz3 A T 3: 94,341,835 (GRCm39) Y178* probably null Het
Or1e35 A G 11: 73,798,097 (GRCm39) S74P possibly damaging Het
Or6c69b A C 10: 129,627,022 (GRCm39) S145R probably damaging Het
Pcdhb20 C T 18: 37,637,839 (GRCm39) H122Y probably benign Het
Pdcd2 T A 17: 15,747,535 (GRCm39) M1L probably damaging Het
Phf11 T C 14: 59,482,240 (GRCm39) N171S probably benign Het
Plcd1 C A 9: 118,901,698 (GRCm39) G609W probably damaging Het
Plscr3 T C 11: 69,738,631 (GRCm39) F98L probably benign Het
Ppp1r8 T C 4: 132,570,407 (GRCm39) N6S probably benign Het
Prpf38b G A 3: 108,818,859 (GRCm39) probably benign Het
Rin2 T A 2: 145,702,202 (GRCm39) N299K possibly damaging Het
Serpina1d T G 12: 103,734,299 (GRCm39) T2P probably benign Het
Slc22a16 A G 10: 40,461,125 (GRCm39) D330G probably benign Het
Slit1 G A 19: 41,731,832 (GRCm39) Q6* probably null Het
Spaca7b T A 8: 11,705,681 (GRCm39) E142V probably benign Het
Spag9 T C 11: 93,887,119 (GRCm39) V8A possibly damaging Het
Spsb3 C T 17: 25,105,784 (GRCm39) T44I unknown Het
Srrt T C 5: 137,295,732 (GRCm39) Y563C probably damaging Het
Syne2 A G 12: 75,926,951 (GRCm39) D69G probably damaging Het
Tcf12 A G 9: 71,792,443 (GRCm39) V80A probably benign Het
Tdpoz3 G A 3: 93,733,336 (GRCm39) D4N possibly damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tmem132d G A 5: 128,061,375 (GRCm39) T409I possibly damaging Het
Tmem245 G T 4: 56,947,119 (GRCm39) T98K probably damaging Het
Tmem70 A C 1: 16,735,659 (GRCm39) E43A probably benign Het
Trim25 A T 11: 88,907,188 (GRCm39) I516F probably damaging Het
Trim3 G A 7: 105,267,455 (GRCm39) S308L possibly damaging Het
Ttll9 C T 2: 152,831,989 (GRCm39) R189* probably null Het
Ttpal T C 2: 163,449,596 (GRCm39) probably null Het
Ubl4b A T 3: 107,461,911 (GRCm39) H116Q probably benign Het
Unc80 C A 1: 66,651,287 (GRCm39) T1544K possibly damaging Het
Usp2 T C 9: 44,003,487 (GRCm39) probably null Het
Usp25 T C 16: 76,874,123 (GRCm39) probably null Het
Vmn1r167 C T 7: 23,204,990 (GRCm39) V9I probably benign Het
Vmn2r87 A G 10: 130,314,776 (GRCm39) I270T probably damaging Het
Vps35l G A 7: 118,348,915 (GRCm39) probably null Het
Wdr24 A G 17: 26,046,301 (GRCm39) D515G possibly damaging Het
Wdr81 T C 11: 75,341,650 (GRCm39) T87A Het
Zcchc14 A T 8: 122,331,863 (GRCm39) L500Q unknown Het
Zzef1 A G 11: 72,758,786 (GRCm39) T1242A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGGCTTTCAAATAGGTGGCC -3'
(R):5'- ACTAGTGTCTAGCTAGGGGTGC -3'

Sequencing Primer
(F):5'- AAATAGGTGGCCTCTGTCTCC -3'
(R):5'- TGGCCTCTCCAGAAAGCTC -3'
Posted On 2022-10-06