Incidental Mutation 'R5042:Nfatc3'
ID 452805
Institutional Source Beutler Lab
Gene Symbol Nfatc3
Ensembl Gene ENSMUSG00000031902
Gene Name nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3
Synonyms NFATx, D8Ertd281e, NFAT4
MMRRC Submission 042632-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5042 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106785472-106857169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106834757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 701 (V701A)
Ref Sequence ENSEMBL: ENSMUSP00000104931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109308] [ENSMUST00000211991] [ENSMUST00000212742]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000109308
AA Change: V701A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902
AA Change: V701A

DomainStartEndE-ValueType
low complexity region 153 182 N/A INTRINSIC
low complexity region 205 225 N/A INTRINSIC
low complexity region 257 271 N/A INTRINSIC
low complexity region 286 305 N/A INTRINSIC
Pfam:RHD_DNA_bind 434 593 4.9e-25 PFAM
IPT 600 699 1.19e-20 SMART
low complexity region 713 722 N/A INTRINSIC
low complexity region 917 938 N/A INTRINSIC
low complexity region 954 967 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211991
AA Change: V693A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000212742
AA Change: V693A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.0591 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 100% (57/57)
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 member of the nuclear factors 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. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some embryonic lethality and reduced body size. Developmental defects also exist in the immune system , skeletal muscle, vasculature, heart, and sensory nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,273,927 (GRCm39) noncoding transcript Het
4933413J09Rik C A 14: 26,097,436 (GRCm39) noncoding transcript Het
Aldh1a2 A G 9: 71,192,286 (GRCm39) I413V possibly damaging Het
Alpk2 C T 18: 65,483,579 (GRCm39) W143* probably null Het
Anpep G T 7: 79,489,217 (GRCm39) N318K probably benign Het
Art5 A T 7: 101,748,672 (GRCm39) L10H probably damaging Het
Atg2b T G 12: 105,587,521 (GRCm39) H1981P probably benign Het
B3gnt3 T C 8: 72,145,532 (GRCm39) T279A probably damaging Het
Bmp10 G T 6: 87,411,039 (GRCm39) E277D probably damaging Het
Ccdc180 A G 4: 45,916,255 (GRCm39) T191A probably damaging Het
Dars2 T A 1: 160,872,664 (GRCm39) probably benign Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fndc7 A T 3: 108,770,102 (GRCm39) V608D probably damaging Het
Gad1-ps A T 10: 99,281,516 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,317,224 (GRCm39) K527E probably benign Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Hes3 T A 4: 152,371,500 (GRCm39) S150C possibly damaging Het
Hp1bp3 T A 4: 137,949,419 (GRCm39) M1K probably null Het
Il17rd T A 14: 26,817,998 (GRCm39) V229E probably damaging Het
Iqch A G 9: 63,403,516 (GRCm39) M634T possibly damaging Het
Magel2 C T 7: 62,029,354 (GRCm39) R753W unknown Het
Med26 A G 8: 73,250,919 (GRCm39) V60A probably damaging Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Nat1 T G 8: 67,944,228 (GRCm39) D201E probably benign Het
Nav3 G T 10: 109,605,129 (GRCm39) S981R probably benign Het
Nbn C A 4: 15,981,446 (GRCm39) L513M probably benign Het
Nlrp9a A G 7: 26,270,703 (GRCm39) D911G probably damaging Het
Npr2 A T 4: 43,647,002 (GRCm39) I712F probably damaging Het
Oplah G A 15: 76,189,909 (GRCm39) R235* probably null Het
Or10a48 A G 7: 108,424,678 (GRCm39) I176T possibly damaging Het
Pcdha11 T A 18: 37,144,649 (GRCm39) Y247N probably damaging Het
Pcdhga9 A G 18: 37,870,630 (GRCm39) Y153C probably damaging Het
Pkd1 A T 17: 24,788,861 (GRCm39) D873V probably benign Het
Pnpla1 A G 17: 29,100,021 (GRCm39) N296S probably benign Het
Ppfia3 A G 7: 44,991,765 (GRCm39) V839A probably damaging Het
Ppm1j A T 3: 104,690,036 (GRCm39) Q148L probably null Het
Prune2 T A 19: 17,097,161 (GRCm39) N888K possibly damaging Het
Sh3bgr A G 16: 96,007,066 (GRCm39) D12G probably benign Het
Snph T A 2: 151,442,977 (GRCm39) I35F possibly damaging Het
Spag17 A T 3: 99,979,465 (GRCm39) D1442V probably damaging Het
Spidr T C 16: 15,936,767 (GRCm39) T113A probably benign Het
St13 A T 15: 81,249,693 (GRCm39) N349K probably damaging Het
Ttll6 C T 11: 96,045,430 (GRCm39) S549F possibly damaging Het
Uap1l1 A T 2: 25,252,097 (GRCm39) S473T possibly damaging Het
Vmn1r54 T C 6: 90,246,422 (GRCm39) V112A possibly damaging Het
Vmn2r57 G A 7: 41,078,086 (GRCm39) S124L probably benign Het
Wasf2 A T 4: 132,903,875 (GRCm39) R28W probably benign Het
Wwp2 T A 8: 108,275,117 (GRCm39) N417K possibly damaging Het
Zc3h13 A T 14: 75,576,836 (GRCm39) D1648V probably damaging Het
Other mutations in Nfatc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Nfatc3 APN 8 106,825,809 (GRCm39) missense probably damaging 1.00
IGL01755:Nfatc3 APN 8 106,854,553 (GRCm39) missense probably benign 0.42
IGL02314:Nfatc3 APN 8 106,805,532 (GRCm39) missense probably benign 0.21
IGL02724:Nfatc3 APN 8 106,834,817 (GRCm39) missense probably benign 0.29
Kampf UTSW 8 106,825,782 (GRCm39) missense probably benign 0.23
Struggles UTSW 8 106,810,502 (GRCm39) nonsense probably null
PIT1430001:Nfatc3 UTSW 8 106,786,605 (GRCm39) missense possibly damaging 0.78
PIT4515001:Nfatc3 UTSW 8 106,805,835 (GRCm39) missense possibly damaging 0.94
R0088:Nfatc3 UTSW 8 106,854,574 (GRCm39) missense possibly damaging 0.90
R0348:Nfatc3 UTSW 8 106,818,827 (GRCm39) missense probably damaging 1.00
R0410:Nfatc3 UTSW 8 106,822,828 (GRCm39) missense probably damaging 1.00
R1509:Nfatc3 UTSW 8 106,810,486 (GRCm39) missense possibly damaging 0.46
R1702:Nfatc3 UTSW 8 106,818,792 (GRCm39) missense probably damaging 1.00
R1735:Nfatc3 UTSW 8 106,810,466 (GRCm39) missense probably damaging 1.00
R1736:Nfatc3 UTSW 8 106,805,482 (GRCm39) missense probably damaging 1.00
R1758:Nfatc3 UTSW 8 106,825,768 (GRCm39) missense probably damaging 1.00
R2370:Nfatc3 UTSW 8 106,835,087 (GRCm39) missense probably damaging 1.00
R2878:Nfatc3 UTSW 8 106,818,776 (GRCm39) missense probably damaging 1.00
R3802:Nfatc3 UTSW 8 106,806,277 (GRCm39) missense probably damaging 0.99
R3959:Nfatc3 UTSW 8 106,825,709 (GRCm39) nonsense probably null
R4006:Nfatc3 UTSW 8 106,835,471 (GRCm39) missense probably benign 0.00
R4079:Nfatc3 UTSW 8 106,806,123 (GRCm39) missense probably damaging 0.98
R4589:Nfatc3 UTSW 8 106,805,705 (GRCm39) missense probably damaging 1.00
R4818:Nfatc3 UTSW 8 106,835,011 (GRCm39) missense probably benign 0.00
R4907:Nfatc3 UTSW 8 106,806,359 (GRCm39) missense probably damaging 1.00
R5632:Nfatc3 UTSW 8 106,805,689 (GRCm39) missense probably damaging 1.00
R5741:Nfatc3 UTSW 8 106,805,698 (GRCm39) missense probably damaging 1.00
R5885:Nfatc3 UTSW 8 106,822,944 (GRCm39) missense probably benign 0.00
R6439:Nfatc3 UTSW 8 106,810,502 (GRCm39) nonsense probably null
R6557:Nfatc3 UTSW 8 106,845,986 (GRCm39) missense probably benign 0.01
R6737:Nfatc3 UTSW 8 106,810,601 (GRCm39) missense probably damaging 1.00
R6925:Nfatc3 UTSW 8 106,845,954 (GRCm39) missense probably benign 0.00
R7260:Nfatc3 UTSW 8 106,835,578 (GRCm39) missense probably benign 0.00
R7429:Nfatc3 UTSW 8 106,835,035 (GRCm39) missense probably benign 0.00
R7430:Nfatc3 UTSW 8 106,835,035 (GRCm39) missense probably benign 0.00
R7526:Nfatc3 UTSW 8 106,805,715 (GRCm39) missense probably damaging 1.00
R7760:Nfatc3 UTSW 8 106,834,973 (GRCm39) missense possibly damaging 0.66
R8783:Nfatc3 UTSW 8 106,825,784 (GRCm39) missense possibly damaging 0.63
R8867:Nfatc3 UTSW 8 106,805,640 (GRCm39) missense probably damaging 1.00
R8978:Nfatc3 UTSW 8 106,835,402 (GRCm39) missense probably benign 0.03
R9021:Nfatc3 UTSW 8 106,818,745 (GRCm39) missense probably damaging 1.00
R9066:Nfatc3 UTSW 8 106,825,782 (GRCm39) missense probably benign 0.23
R9538:Nfatc3 UTSW 8 106,834,784 (GRCm39) missense probably benign 0.35
R9656:Nfatc3 UTSW 8 106,830,766 (GRCm39) missense probably damaging 1.00
X0063:Nfatc3 UTSW 8 106,810,571 (GRCm39) missense probably damaging 1.00
X0064:Nfatc3 UTSW 8 106,834,981 (GRCm39) missense probably benign 0.04
Z1177:Nfatc3 UTSW 8 106,818,698 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACTGCTTATGTCAGACTAGC -3'
(R):5'- TGGGTGGAGGCTACCATAGATG -3'

Sequencing Primer
(F):5'- CTAGCTGGTTTATGAGCTTCTAGAAC -3'
(R):5'- AGGCTACCATAGATGTATATGCTGGC -3'
Posted On 2017-01-06