Incidental Mutation 'R5495:Nfat5'
ID 432294
Institutional Source Beutler Lab
Gene Symbol Nfat5
Ensembl Gene ENSMUSG00000003847
Gene Name nuclear factor of activated T cells 5
Synonyms OREBP, B130038B15Rik, nfatz, TonEBP
MMRRC Submission 043056-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.901) question?
Stock # R5495 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 108020102-108106149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108095079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1107 (I1107V)
Ref Sequence ENSEMBL: ENSMUSP00000127784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075922] [ENSMUST00000077440] [ENSMUST00000125721] [ENSMUST00000133026] [ENSMUST00000144100] [ENSMUST00000147588] [ENSMUST00000151114] [ENSMUST00000169453] [ENSMUST00000154474]
AlphaFold Q9WV30
Predicted Effect probably benign
Transcript: ENSMUST00000075922
AA Change: I1089V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
AA Change: I1089V

DomainStartEndE-ValueType
low complexity region 52 98 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
Pfam:RHD 282 439 7.8e-23 PFAM
IPT 444 542 3.33e-15 SMART
low complexity region 647 653 N/A INTRINSIC
low complexity region 734 754 N/A INTRINSIC
low complexity region 793 810 N/A INTRINSIC
low complexity region 898 910 N/A INTRINSIC
low complexity region 915 920 N/A INTRINSIC
low complexity region 963 977 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077440
AA Change: I1013V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000076653
Gene: ENSMUSG00000003847
AA Change: I1013V

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
low complexity region 103 116 N/A INTRINSIC
Pfam:RHD 206 363 1.5e-22 PFAM
IPT 368 466 3.33e-15 SMART
low complexity region 571 577 N/A INTRINSIC
low complexity region 658 678 N/A INTRINSIC
low complexity region 717 734 N/A INTRINSIC
low complexity region 822 834 N/A INTRINSIC
low complexity region 839 844 N/A INTRINSIC
low complexity region 887 901 N/A INTRINSIC
internal_repeat_2 927 1110 7.13e-8 PROSPERO
internal_repeat_1 935 1128 2.59e-11 PROSPERO
internal_repeat_2 1122 1324 7.13e-8 PROSPERO
internal_repeat_1 1207 1426 2.59e-11 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000125721
AA Change: I1089V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
AA Change: I1089V

DomainStartEndE-ValueType
low complexity region 52 98 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
Pfam:RHD 282 439 1e-22 PFAM
IPT 444 542 3.33e-15 SMART
low complexity region 647 653 N/A INTRINSIC
low complexity region 734 754 N/A INTRINSIC
low complexity region 793 810 N/A INTRINSIC
low complexity region 898 910 N/A INTRINSIC
low complexity region 915 920 N/A INTRINSIC
low complexity region 963 977 N/A INTRINSIC
internal_repeat_2 1003 1186 2.22e-8 PROSPERO
internal_repeat_1 1011 1204 5.31e-12 PROSPERO
internal_repeat_2 1198 1400 2.22e-8 PROSPERO
internal_repeat_1 1283 1502 5.31e-12 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126397
Predicted Effect probably benign
Transcript: ENSMUST00000133026
SMART Domains Protein: ENSMUSP00000116631
Gene: ENSMUSG00000003847

DomainStartEndE-ValueType
low complexity region 70 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144100
Predicted Effect probably benign
Transcript: ENSMUST00000147588
AA Change: I588V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000122871
Gene: ENSMUSG00000003847
AA Change: I588V

DomainStartEndE-ValueType
Blast:IPT 1 42 3e-20 BLAST
PDB:1IMH|D 1 44 2e-20 PDB
SCOP:d1bfta_ 1 44 3e-14 SMART
low complexity region 146 152 N/A INTRINSIC
low complexity region 233 253 N/A INTRINSIC
low complexity region 292 309 N/A INTRINSIC
low complexity region 397 409 N/A INTRINSIC
low complexity region 414 419 N/A INTRINSIC
low complexity region 462 476 N/A INTRINSIC
internal_repeat_2 502 685 1.17e-6 PROSPERO
internal_repeat_1 510 703 1.39e-9 PROSPERO
internal_repeat_2 697 899 1.17e-6 PROSPERO
internal_repeat_1 782 1001 1.39e-9 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000151114
AA Change: I1107V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000119370
Gene: ENSMUSG00000003847
AA Change: I1107V

DomainStartEndE-ValueType
low complexity region 70 116 N/A INTRINSIC
low complexity region 197 210 N/A INTRINSIC
Pfam:RHD_DNA_bind 300 457 1.1e-22 PFAM
IPT 462 560 3.33e-15 SMART
low complexity region 665 671 N/A INTRINSIC
low complexity region 752 772 N/A INTRINSIC
low complexity region 811 828 N/A INTRINSIC
low complexity region 916 928 N/A INTRINSIC
low complexity region 933 938 N/A INTRINSIC
low complexity region 981 995 N/A INTRINSIC
internal_repeat_2 1021 1204 2.24e-8 PROSPERO
internal_repeat_1 1029 1222 5.32e-12 PROSPERO
internal_repeat_2 1216 1418 2.24e-8 PROSPERO
internal_repeat_1 1301 1520 5.32e-12 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000169453
AA Change: I1107V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
AA Change: I1107V

DomainStartEndE-ValueType
low complexity region 70 116 N/A INTRINSIC
low complexity region 197 210 N/A INTRINSIC
Pfam:RHD_DNA_bind 300 457 1.1e-22 PFAM
IPT 462 560 3.33e-15 SMART
low complexity region 665 671 N/A INTRINSIC
low complexity region 752 772 N/A INTRINSIC
low complexity region 811 828 N/A INTRINSIC
low complexity region 916 928 N/A INTRINSIC
low complexity region 933 938 N/A INTRINSIC
low complexity region 981 995 N/A INTRINSIC
internal_repeat_2 1021 1204 2.24e-8 PROSPERO
internal_repeat_1 1029 1222 5.32e-12 PROSPERO
internal_repeat_2 1216 1418 2.24e-8 PROSPERO
internal_repeat_1 1301 1520 5.32e-12 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000154474
SMART Domains Protein: ENSMUSP00000115036
Gene: ENSMUSG00000003847

DomainStartEndE-ValueType
low complexity region 52 70 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency
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 family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one of several knock-out allele exhibit lethality between E14.5 and E17.5 as well as around P10 with kidney, cardiac or immune defects depending on the allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T C 7: 27,335,594 (GRCm39) probably null Het
Arhgap29 T G 3: 121,808,578 (GRCm39) M844R probably damaging Het
Atp1a1 T G 3: 101,498,741 (GRCm39) D184A probably benign Het
Bcl11a T A 11: 24,115,042 (GRCm39) V795E possibly damaging Het
Casp12 T A 9: 5,353,797 (GRCm39) I277N possibly damaging Het
Ccdc59 A G 10: 105,681,239 (GRCm39) K164E probably damaging Het
D630003M21Rik C T 2: 158,062,431 (GRCm39) G30S possibly damaging Het
Dgkd A G 1: 87,854,594 (GRCm39) D632G probably damaging Het
Efr3a A G 15: 65,687,258 (GRCm39) K56E possibly damaging Het
Egflam T A 15: 7,280,722 (GRCm39) R434S probably damaging Het
Fancl C G 11: 26,347,801 (GRCm39) A51G probably damaging Het
Fkbp7 T C 2: 76,493,638 (GRCm39) Y185C probably damaging Het
Galc A G 12: 98,197,673 (GRCm39) probably null Het
Galnt15 A G 14: 31,751,774 (GRCm39) S109G probably damaging Het
Gramd2b T C 18: 56,615,694 (GRCm39) I163T probably damaging Het
Impa1 A G 3: 10,391,230 (GRCm39) V80A probably benign Het
Itga10 T C 3: 96,554,687 (GRCm39) M56T possibly damaging Het
Larp1b G T 3: 40,990,257 (GRCm39) R135I probably damaging Het
Lgals12 C T 19: 7,581,495 (GRCm39) A71T probably damaging Het
Lmbr1 A T 5: 29,551,851 (GRCm39) L78* probably null Het
Lrat C A 3: 82,804,289 (GRCm39) M229I probably benign Het
Mug2 A T 6: 122,056,609 (GRCm39) M1185L probably damaging Het
Naprt T C 15: 75,765,696 (GRCm39) probably null Het
Nr4a2 T C 2: 57,002,387 (GRCm39) Y22C probably damaging Het
Ogfod1 C A 8: 94,790,906 (GRCm39) Q526K probably benign Het
Or2d4 C A 7: 106,543,699 (GRCm39) G170* probably null Het
Or3a10 G A 11: 73,935,611 (GRCm39) T163I probably damaging Het
Or4p21 T C 2: 88,276,401 (GRCm39) T294A probably benign Het
Or8g36 T C 9: 39,422,441 (GRCm39) T192A probably benign Het
Parp10 T G 15: 76,127,366 (GRCm39) I24L probably benign Het
Pcdha11 A G 18: 37,144,079 (GRCm39) T57A probably benign Het
Prdm8 A G 5: 98,333,165 (GRCm39) E244G possibly damaging Het
Prl6a1 T C 13: 27,496,654 (GRCm39) S3P possibly damaging Het
Rab11fip3 T A 17: 26,235,117 (GRCm39) T18S probably damaging Het
Rfc4 T C 16: 22,941,004 (GRCm39) probably benign Het
Rubcnl G T 14: 75,279,777 (GRCm39) V387F possibly damaging Het
S100a7l2 A T 3: 90,997,602 (GRCm39) L38M possibly damaging Het
Serpinb12 T C 1: 106,884,151 (GRCm39) L299P probably damaging Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,181 (GRCm39) I264F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Thsd7b T A 1: 129,523,570 (GRCm39) H124Q probably damaging Het
Ugt1a6a A T 1: 88,066,746 (GRCm39) Q184L probably benign Het
Vnn1 T A 10: 23,774,462 (GRCm39) F168L probably damaging Het
Zan A G 5: 137,468,670 (GRCm39) L267P probably damaging Het
Zswim8 A G 14: 20,772,354 (GRCm39) S1621G probably damaging Het
Other mutations in Nfat5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Nfat5 APN 8 108,094,146 (GRCm39) missense probably damaging 1.00
IGL01145:Nfat5 APN 8 108,093,847 (GRCm39) missense probably damaging 0.99
IGL01700:Nfat5 APN 8 108,065,762 (GRCm39) missense probably damaging 0.99
IGL01721:Nfat5 APN 8 108,071,611 (GRCm39) critical splice donor site probably null
IGL01796:Nfat5 APN 8 108,094,273 (GRCm39) missense probably damaging 1.00
IGL01976:Nfat5 APN 8 108,094,191 (GRCm39) missense probably damaging 1.00
IGL02063:Nfat5 APN 8 108,088,450 (GRCm39) missense probably benign 0.03
IGL02150:Nfat5 APN 8 108,094,584 (GRCm39) nonsense probably null
IGL02174:Nfat5 APN 8 108,065,683 (GRCm39) missense probably damaging 1.00
IGL02224:Nfat5 APN 8 108,071,447 (GRCm39) missense probably benign 0.00
IGL02226:Nfat5 APN 8 108,078,154 (GRCm39) nonsense probably null
IGL02324:Nfat5 APN 8 108,092,808 (GRCm39) splice site probably benign
IGL02724:Nfat5 APN 8 108,085,367 (GRCm39) missense probably damaging 0.97
fettfeld UTSW 8 108,074,359 (GRCm39) missense probably damaging 1.00
Grunefeld UTSW 8 108,082,140 (GRCm39) splice site probably null
Kleinfeld UTSW 8 108,078,070 (GRCm39) missense probably damaging 1.00
Lisa UTSW 8 108,074,321 (GRCm39) missense probably damaging 1.00
viola UTSW 8 108,085,300 (GRCm39) missense probably damaging 1.00
H8562:Nfat5 UTSW 8 108,066,014 (GRCm39) splice site probably benign
R0003:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0117:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0118:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0119:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0135:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0138:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0141:Nfat5 UTSW 8 108,065,707 (GRCm39) missense probably damaging 1.00
R0302:Nfat5 UTSW 8 108,085,333 (GRCm39) missense probably damaging 1.00
R0420:Nfat5 UTSW 8 108,094,093 (GRCm39) missense probably damaging 1.00
R0613:Nfat5 UTSW 8 108,092,927 (GRCm39) missense possibly damaging 0.83
R0691:Nfat5 UTSW 8 108,082,237 (GRCm39) missense probably damaging 1.00
R0743:Nfat5 UTSW 8 108,094,698 (GRCm39) missense probably damaging 1.00
R1329:Nfat5 UTSW 8 108,095,659 (GRCm39) missense probably benign 0.42
R1550:Nfat5 UTSW 8 108,097,205 (GRCm39) missense probably damaging 0.99
R1590:Nfat5 UTSW 8 108,020,522 (GRCm39) missense probably damaging 1.00
R1778:Nfat5 UTSW 8 108,088,421 (GRCm39) missense probably damaging 1.00
R1827:Nfat5 UTSW 8 108,093,966 (GRCm39) missense probably benign 0.00
R1918:Nfat5 UTSW 8 108,092,868 (GRCm39) missense probably damaging 0.97
R2679:Nfat5 UTSW 8 108,071,546 (GRCm39) missense probably damaging 1.00
R2850:Nfat5 UTSW 8 108,020,492 (GRCm39) missense probably damaging 1.00
R3703:Nfat5 UTSW 8 108,078,053 (GRCm39) splice site probably benign
R3966:Nfat5 UTSW 8 108,093,921 (GRCm39) missense possibly damaging 0.47
R4301:Nfat5 UTSW 8 108,082,327 (GRCm39) intron probably benign
R4596:Nfat5 UTSW 8 108,078,132 (GRCm39) missense possibly damaging 0.93
R4602:Nfat5 UTSW 8 108,093,855 (GRCm39) nonsense probably null
R4627:Nfat5 UTSW 8 108,095,908 (GRCm39) missense probably damaging 1.00
R4917:Nfat5 UTSW 8 108,051,284 (GRCm39) missense probably damaging 1.00
R4918:Nfat5 UTSW 8 108,051,284 (GRCm39) missense probably damaging 1.00
R5089:Nfat5 UTSW 8 108,078,070 (GRCm39) missense probably damaging 1.00
R5566:Nfat5 UTSW 8 108,095,767 (GRCm39) missense possibly damaging 0.47
R5851:Nfat5 UTSW 8 108,074,359 (GRCm39) missense probably damaging 1.00
R6012:Nfat5 UTSW 8 108,093,765 (GRCm39) missense probably benign 0.09
R6018:Nfat5 UTSW 8 108,082,283 (GRCm39) critical splice donor site probably null
R6364:Nfat5 UTSW 8 108,094,909 (GRCm39) missense probably benign 0.00
R6404:Nfat5 UTSW 8 108,097,220 (GRCm39) missense probably benign 0.01
R6466:Nfat5 UTSW 8 108,082,140 (GRCm39) splice site probably null
R7056:Nfat5 UTSW 8 108,094,738 (GRCm39) missense probably damaging 1.00
R7105:Nfat5 UTSW 8 108,095,823 (GRCm39) missense possibly damaging 0.88
R7128:Nfat5 UTSW 8 108,085,323 (GRCm39) missense probably benign 0.10
R7214:Nfat5 UTSW 8 108,020,515 (GRCm39) missense probably damaging 0.99
R7276:Nfat5 UTSW 8 108,093,731 (GRCm39) missense probably benign 0.25
R7560:Nfat5 UTSW 8 108,097,221 (GRCm39) missense probably benign 0.15
R7844:Nfat5 UTSW 8 108,085,300 (GRCm39) missense probably damaging 1.00
R7993:Nfat5 UTSW 8 108,082,134 (GRCm39) splice site probably null
R8407:Nfat5 UTSW 8 108,094,047 (GRCm39) nonsense probably null
R8428:Nfat5 UTSW 8 108,095,152 (GRCm39) missense probably damaging 0.96
R8798:Nfat5 UTSW 8 108,074,321 (GRCm39) missense probably damaging 1.00
R8919:Nfat5 UTSW 8 108,095,228 (GRCm39) missense probably damaging 0.99
R9067:Nfat5 UTSW 8 108,094,536 (GRCm39) missense probably benign 0.07
R9123:Nfat5 UTSW 8 108,078,141 (GRCm39) missense probably damaging 0.97
R9226:Nfat5 UTSW 8 108,095,401 (GRCm39) missense probably damaging 1.00
R9351:Nfat5 UTSW 8 108,065,910 (GRCm39) missense probably damaging 1.00
X0022:Nfat5 UTSW 8 108,074,388 (GRCm39) nonsense probably null
Z1177:Nfat5 UTSW 8 108,065,474 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGTACCCAGCAACAAGGG -3'
(R):5'- AGAAATTGAGTTCTGTGCTGC -3'

Sequencing Primer
(F):5'- CAAGGGAATAGCTTGTTCCAGC -3'
(R):5'- AATGAAATCTGCTCTTCTTGGGC -3'
Posted On 2016-10-05