Incidental Mutation 'R0302:Nfat5'
ID 24855
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 038514-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R0302 (G1)
Quality Score 209
Status Validated
Chromosome 8
Chromosomal Location 108020102-108106149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108085333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 542 (I542T)
Ref Sequence ENSEMBL: ENSMUSP00000127784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075922] [ENSMUST00000077440] [ENSMUST00000125721] [ENSMUST00000133026] [ENSMUST00000151114] [ENSMUST00000169453] [ENSMUST00000147588] [ENSMUST00000154474] [ENSMUST00000144100]
AlphaFold Q9WV30
Predicted Effect probably damaging
Transcript: ENSMUST00000075922
AA Change: I524T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
AA Change: I524T

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 damaging
Transcript: ENSMUST00000077440
AA Change: I448T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076653
Gene: ENSMUSG00000003847
AA Change: I448T

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 damaging
Transcript: ENSMUST00000125721
AA Change: I524T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
AA Change: I524T

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 probably benign
Transcript: ENSMUST00000126333
SMART Domains Protein: ENSMUSP00000118130
Gene: ENSMUSG00000003847

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 30 132 6.8e-18 PFAM
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 damaging
Transcript: ENSMUST00000151114
AA Change: I542T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119370
Gene: ENSMUSG00000003847
AA Change: I542T

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 damaging
Transcript: ENSMUST00000169453
AA Change: I542T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
AA Change: I542T

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 damaging
Transcript: ENSMUST00000147588
AA Change: I24T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122871
Gene: ENSMUSG00000003847
AA Change: I24T

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 noncoding transcript
Transcript: ENSMUST00000148006
Predicted Effect probably benign
Transcript: ENSMUST00000154474
SMART Domains Protein: ENSMUSP00000115036
Gene: ENSMUSG00000003847

DomainStartEndE-ValueType
low complexity region 52 70 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144100
Meta Mutation Damage Score 0.7363 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs T C 4: 126,211,185 (GRCm39) E244G probably benign Het
Aldh1l2 G A 10: 83,356,229 (GRCm39) P54S probably damaging Het
Ankdd1a G A 9: 65,416,924 (GRCm39) probably benign Het
Ankra2 T A 13: 98,408,200 (GRCm39) S216R probably damaging Het
Asah2 A T 19: 32,030,356 (GRCm39) N105K probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Cacna1s A G 1: 136,028,342 (GRCm39) Y893C probably benign Het
Capza2 G A 6: 17,648,523 (GRCm39) R15H probably benign Het
Cbfa2t2 T C 2: 154,376,796 (GRCm39) probably benign Het
Ccdc96 A T 5: 36,643,445 (GRCm39) T484S possibly damaging Het
Cckar GCTTAGCCTCTTCT GCT 5: 53,857,641 (GRCm39) probably null Het
Ccl4 T A 11: 83,554,280 (GRCm39) probably benign Het
Cpt1b A G 15: 89,302,073 (GRCm39) Y702H probably benign Het
Cr1l G A 1: 194,800,101 (GRCm39) T153I probably damaging Het
Cyth2 C A 7: 45,460,009 (GRCm39) E57* probably null Het
Daxx T A 17: 34,132,594 (GRCm39) S575T probably damaging Het
Depdc5 T C 5: 33,061,890 (GRCm39) probably benign Het
Dnah12 A G 14: 26,521,956 (GRCm39) D1923G probably damaging Het
Dnah7b A G 1: 46,162,937 (GRCm39) T428A probably benign Het
Dnm2 G T 9: 21,411,639 (GRCm39) A619S probably benign Het
Enpp2 T C 15: 54,723,457 (GRCm39) T639A probably benign Het
Epsti1 A T 14: 78,177,366 (GRCm39) H182L probably damaging Het
Exoc3l C T 8: 106,020,175 (GRCm39) R250Q probably benign Het
Ggn G T 7: 28,870,665 (GRCm39) probably null Het
Il1rap A G 16: 26,511,544 (GRCm39) N196S probably benign Het
Ints6 T C 14: 62,946,961 (GRCm39) T335A probably damaging Het
Itga1 G A 13: 115,148,854 (GRCm39) probably benign Het
Kifc3 G T 8: 95,830,098 (GRCm39) Q557K possibly damaging Het
Krt23 A G 11: 99,369,027 (GRCm39) I422T probably benign Het
Lcn2 A G 2: 32,274,901 (GRCm39) probably benign Het
Lonp2 A G 8: 87,364,619 (GRCm39) T326A possibly damaging Het
Lrpprc T C 17: 85,047,506 (GRCm39) I909V possibly damaging Het
Lrrc14 G T 15: 76,598,552 (GRCm39) R396L probably benign Het
Lypd6 T G 2: 50,055,679 (GRCm39) probably benign Het
Man2b1 A G 8: 85,819,645 (GRCm39) N610S probably damaging Het
Map2 A T 1: 66,453,987 (GRCm39) N959I probably benign Het
Mctp2 C T 7: 71,740,012 (GRCm39) V793I possibly damaging Het
Med25 A C 7: 44,529,982 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,748,616 (GRCm39) Y83C probably damaging Het
Mtbp A T 15: 55,488,820 (GRCm39) M499L probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Nr1h3 A G 2: 91,022,358 (GRCm39) M90T probably damaging Het
Nsmce4a A G 7: 130,147,623 (GRCm39) probably benign Het
Oprl1 G A 2: 181,361,021 (GRCm39) C318Y probably benign Het
Or5d40 T A 2: 88,015,854 (GRCm39) I211N possibly damaging Het
Pbx3 A T 2: 34,114,572 (GRCm39) S46T probably benign Het
Pign A T 1: 105,516,818 (GRCm39) F575I possibly damaging Het
Ptpn13 G T 5: 103,713,091 (GRCm39) S1738I probably benign Het
Rnf126 G T 10: 79,595,057 (GRCm39) P269Q probably damaging Het
Ryr3 G A 2: 112,477,468 (GRCm39) probably benign Het
Slc2a7 C T 4: 150,233,978 (GRCm39) A31V probably damaging Het
Slc6a12 A G 6: 121,340,218 (GRCm39) D487G probably damaging Het
Son G T 16: 91,453,032 (GRCm39) G593V probably damaging Het
Spata31d1a T C 13: 59,850,964 (GRCm39) N388S probably benign Het
Spg11 A T 2: 121,922,668 (GRCm39) M927K possibly damaging Het
Taf13 A G 3: 108,479,038 (GRCm39) M1V probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trio A G 15: 27,902,603 (GRCm39) F286S probably damaging Het
Trpm2 A C 10: 77,779,824 (GRCm39) probably benign Het
Ttc7b T C 12: 100,353,438 (GRCm39) M390V possibly damaging Het
Vmn1r184 A T 7: 25,966,968 (GRCm39) Q238L probably damaging Het
Zfp236 T C 18: 82,676,213 (GRCm39) E368G probably damaging Het
Zfr2 G T 10: 81,087,170 (GRCm39) probably benign 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
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
R5495:Nfat5 UTSW 8 108,095,079 (GRCm39) missense probably benign 0.03
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'- ACGGCATACTAAGATGAATGACATGCAC -3'
(R):5'- CCAAATTAGTAGGGCTTCATGTTTTGGC -3'

Sequencing Primer
(F):5'- gaaatctgcctgcctctacc -3'
(R):5'- GGATCCGGAGTGTACGTAAA -3'
Posted On 2013-04-16