Incidental Mutation 'IGL01796:Nfat5'
ID 155352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfat5
Ensembl Gene ENSMUSG00000003847
Gene Name nuclear factor of activated T cells 5
Synonyms OREBP, B130038B15Rik, nfatz, TonEBP
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # IGL01796
Quality Score
Status
Chromosome 8
Chromosomal Location 108020102-108106149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108094273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 744 (V744A)
Ref Sequence ENSEMBL: ENSMUSP00000076653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075922] [ENSMUST00000077440] [ENSMUST00000125721] [ENSMUST00000133026] [ENSMUST00000144100] [ENSMUST00000151114] [ENSMUST00000147588] [ENSMUST00000169453] [ENSMUST00000154474]
AlphaFold Q9WV30
Predicted Effect probably damaging
Transcript: ENSMUST00000075922
AA Change: V820A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075311
Gene: ENSMUSG00000003847
AA Change: V820A

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: V744A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076653
Gene: ENSMUSG00000003847
AA Change: V744A

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: V820A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116094
Gene: ENSMUSG00000003847
AA Change: V820A

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 damaging
Transcript: ENSMUST00000151114
AA Change: V838A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119370
Gene: ENSMUSG00000003847
AA Change: V838A

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 possibly damaging
Transcript: ENSMUST00000147588
AA Change: V319A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122871
Gene: ENSMUSG00000003847
AA Change: V319A

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 damaging
Transcript: ENSMUST00000169453
AA Change: V838A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127784
Gene: ENSMUSG00000003847
AA Change: V838A

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,273 (GRCm39) Y511H probably damaging Het
Abca7 T G 10: 79,849,743 (GRCm39) Y1948D probably damaging Het
Adgrl2 C A 3: 148,564,611 (GRCm39) G319V probably damaging Het
Adgrv1 T A 13: 81,715,461 (GRCm39) D909V probably benign Het
Anapc16 T C 10: 59,824,579 (GRCm39) E119G possibly damaging Het
C1qtnf12 T C 4: 156,050,886 (GRCm39) V285A possibly damaging Het
Cbr1 A C 16: 93,405,119 (GRCm39) N89T probably damaging Het
Cdh23 T A 10: 60,146,916 (GRCm39) Q2778L probably benign Het
Clca4c-ps A G 3: 144,595,340 (GRCm39) noncoding transcript Het
Cst9 T C 2: 148,677,269 (GRCm39) F47L probably damaging Het
Dqx1 T C 6: 83,043,408 (GRCm39) probably benign Het
Dus4l T C 12: 31,692,794 (GRCm39) S150G probably benign Het
E2f2 A T 4: 135,907,728 (GRCm39) K142* probably null Het
Eif2ak4 T A 2: 118,276,785 (GRCm39) H169Q probably benign Het
Fmo9 C T 1: 166,490,904 (GRCm39) A525T probably benign Het
Gm42878 T C 5: 121,683,247 (GRCm39) D6G probably benign Het
Igfals A G 17: 25,099,056 (GRCm39) Y49C probably damaging Het
Il22b T C 10: 118,126,069 (GRCm39) N176S possibly damaging Het
Ipo7 T C 7: 109,629,055 (GRCm39) probably benign Het
Itga1 T C 13: 115,121,657 (GRCm39) E784G probably damaging Het
Jcad G T 18: 4,672,855 (GRCm39) E206* probably null Het
Kif24 A T 4: 41,392,978 (GRCm39) probably benign Het
Lrrc2 T A 9: 110,809,886 (GRCm39) probably null Het
Ltbp1 A G 17: 75,534,240 (GRCm39) probably benign Het
Man2c1 C T 9: 57,045,244 (GRCm39) T451I possibly damaging Het
Manba T A 3: 135,248,150 (GRCm39) N346K probably damaging Het
Nell1 T C 7: 49,825,964 (GRCm39) probably benign Het
Nms T C 1: 38,985,192 (GRCm39) M98T possibly damaging Het
Nos1 A T 5: 118,076,339 (GRCm39) K1120* probably null Het
Or11g25 C A 14: 50,722,998 (GRCm39) Q28K probably benign Het
Plekho1 C T 3: 95,898,147 (GRCm39) R172H probably damaging Het
Pot1b A T 17: 55,976,750 (GRCm39) C391S possibly damaging Het
Scn1a G A 2: 66,162,645 (GRCm39) probably benign Het
Sgce T G 6: 4,711,326 (GRCm39) N149H probably damaging Het
Slc45a1 A G 4: 150,728,426 (GRCm39) W126R probably damaging Het
Slc9a1 G A 4: 133,147,404 (GRCm39) probably benign Het
Tmem131l T A 3: 83,845,362 (GRCm39) K423* probably null Het
Tnrc18 C T 5: 142,750,642 (GRCm39) E1444K possibly damaging Het
Tpp1 T C 7: 105,396,857 (GRCm39) probably benign Het
Trip12 A C 1: 84,705,999 (GRCm39) S610R probably benign Het
Ushbp1 G T 8: 71,840,076 (GRCm39) A525E probably benign Het
Vmn2r106 A T 17: 20,488,314 (GRCm39) M695K possibly damaging Het
Vmn2r118 A G 17: 55,915,585 (GRCm39) I455T probably benign Het
Zbtb41 T C 1: 139,370,621 (GRCm39) F686S 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
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
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
Posted On 2014-02-04