Incidental Mutation 'R9268:Nfatc4'
ID 702704
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 # R9268 (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 T at 56064685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 391 (I391F)
Ref Sequence ENSEMBL: ENSMUSP00000024179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357] [ENSMUST00000226979]
AlphaFold Q8K120
Predicted Effect probably damaging
Transcript: ENSMUST00000024179
AA Change: I391F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: I391F

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: I391F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: I391F

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 damaging
Transcript: ENSMUST00000226357
AA Change: I321F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000226979
Predicted Effect probably benign
Transcript: ENSMUST00000228308
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,969,030 (GRCm39) T218A possibly damaging Het
Acadsb C T 7: 131,033,763 (GRCm39) T260I probably damaging Het
Acap2 A T 16: 30,955,392 (GRCm39) V161E probably damaging Het
Adnp A G 2: 168,031,233 (GRCm39) I26T possibly damaging Het
Alk T C 17: 72,181,190 (GRCm39) T1367A probably damaging Het
Apoa5 A T 9: 46,181,719 (GRCm39) D265V probably benign Het
Asb15 G A 6: 24,566,298 (GRCm39) R417H probably benign Het
Atg2a A C 19: 6,291,905 (GRCm39) H27P probably damaging Het
Bace1 G T 9: 45,767,282 (GRCm39) probably benign Het
Camk1d A G 2: 5,303,901 (GRCm39) S351P probably benign Het
Carf C A 1: 60,148,558 (GRCm39) Q85K possibly damaging Het
Cdh19 A G 1: 110,877,111 (GRCm39) F76S probably damaging Het
Ces1b A C 8: 93,798,583 (GRCm39) V201G probably damaging Het
Clk1 A G 1: 58,458,882 (GRCm39) L133S unknown Het
Clstn3 G A 6: 124,433,880 (GRCm39) L427F probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cyp2j11 A T 4: 96,207,781 (GRCm39) probably benign Het
Dctn4 T A 18: 60,659,304 (GRCm39) M1K probably null Het
Dnah12 A G 14: 26,571,255 (GRCm39) K2788R possibly damaging Het
Dtna T A 18: 23,702,643 (GRCm39) V58D possibly damaging Het
Egfr T A 11: 16,855,410 (GRCm39) D898E probably damaging Het
Eif2ak4 G C 2: 118,271,701 (GRCm39) probably null Het
Enam A G 5: 88,640,778 (GRCm39) M147V probably benign Het
Etaa1 A T 11: 17,896,419 (GRCm39) V566E probably damaging Het
F13a1 C T 13: 37,076,910 (GRCm39) G593D probably benign Het
Far2 C T 6: 148,060,418 (GRCm39) T257I probably benign Het
Fat4 C T 3: 38,942,396 (GRCm39) R430C probably damaging Het
Fhod3 T C 18: 24,842,832 (GRCm39) probably null Het
Fuca2 G A 10: 13,390,563 (GRCm39) W453* probably null Het
Hjv T C 3: 96,435,881 (GRCm39) F380L probably benign Het
Hycc2 T C 1: 58,591,361 (GRCm39) D94G probably damaging Het
Ift70a1 A T 2: 75,811,279 (GRCm39) V268E probably benign Het
Igkv4-72 A T 6: 69,203,980 (GRCm39) Y70* probably null Het
Kdm1b A C 13: 47,217,705 (GRCm39) N388T probably benign Het
Klri2 A T 6: 129,710,037 (GRCm39) W188R probably damaging Het
Lama4 A G 10: 38,950,688 (GRCm39) Y997C probably damaging Het
Lrrc73 T C 17: 46,565,535 (GRCm39) S89P probably benign Het
Macf1 T C 4: 123,367,582 (GRCm39) E2393G probably damaging Het
Mfsd14b A G 13: 65,222,855 (GRCm39) L265P probably damaging Het
Msantd5f3 T C 4: 73,575,373 (GRCm39) S351P probably damaging Het
Myo3b A C 2: 70,257,305 (GRCm39) *1334C probably null Het
Nlgn1 A T 3: 25,490,548 (GRCm39) M393K probably damaging Het
Or5h17 T G 16: 58,820,083 (GRCm39) F12V probably damaging Het
Or9i14 A T 19: 13,792,388 (GRCm39) C189S probably damaging Het
Otogl A T 10: 107,616,917 (GRCm39) C1787S probably damaging Het
Papola A G 12: 105,766,032 (GRCm39) E44G probably benign Het
Parp1 A G 1: 180,415,509 (GRCm39) K443E possibly damaging Het
Pcdh15 A T 10: 74,479,455 (GRCm39) E522V probably benign Het
Peli2 A G 14: 48,518,927 (GRCm39) E225G probably benign Het
Pus7l T C 15: 94,431,445 (GRCm39) I395V probably benign Het
Rmi1 T C 13: 58,555,853 (GRCm39) I34T probably damaging Het
Rnf220 A G 4: 117,346,833 (GRCm39) I193T probably benign Het
Rpgrip1l T C 8: 92,007,355 (GRCm39) T412A probably benign Het
Shisa7 T G 7: 4,837,333 (GRCm39) D244A probably damaging Het
Slco3a1 T C 7: 73,952,946 (GRCm39) T538A probably benign Het
Sptlc1 A T 13: 53,512,872 (GRCm39) I162N probably damaging Het
Ssrp1 C A 2: 84,870,606 (GRCm39) probably benign Het
Sytl2 A G 7: 90,034,359 (GRCm39) N523S probably benign Het
Tcf20 A G 15: 82,740,705 (GRCm39) S249P probably benign Het
Thumpd3 T A 6: 113,043,819 (GRCm39) F411L probably damaging Het
Ttn A G 2: 76,768,079 (GRCm39) W3007R unknown Het
Ulbp1 A T 10: 7,396,392 (GRCm39) L295Q unknown Het
Vmn1r29 T A 6: 58,284,577 (GRCm39) V99E probably damaging Het
Wdr47 T C 3: 108,525,812 (GRCm39) F112L probably benign Het
Wnk2 A G 13: 49,235,507 (GRCm39) V636A possibly damaging Het
Zswim8 T C 14: 20,761,908 (GRCm39) L227P 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
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
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'- GAGGACTTCTAGCGAGCAAG -3'
(R):5'- ATCTACAGCTCAGCCCACTGTC -3'

Sequencing Primer
(F):5'- CTTCTAGCGAGCAAGCAGTG -3'
(R):5'- TGAAGAGCTCAAGCGTAC -3'
Posted On 2022-03-25