Incidental Mutation 'IGL02106:Nfatc2ip'
ID 279985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfatc2ip
Ensembl Gene ENSMUSG00000030722
Gene Name nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 interacting protein
Synonyms NIP45, D7Ertd304e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # IGL02106
Quality Score
Status
Chromosome 7
Chromosomal Location 125982026-125995909 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 125989736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000075671]
AlphaFold O09130
Predicted Effect possibly damaging
Transcript: ENSMUST00000075671
AA Change: N216S

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: N216S

DomainStartEndE-ValueType
low complexity region 6 32 N/A INTRINSIC
low complexity region 43 58 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
low complexity region 95 106 N/A INTRINSIC
low complexity region 169 184 N/A INTRINSIC
coiled coil region 199 227 N/A INTRINSIC
UBQ 258 328 1.31e-8 SMART
low complexity region 329 338 N/A INTRINSIC
Pfam:Rad60-SLD 341 411 3.6e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142947
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display profound defects in the expression of NFAT-regulated cytokine genes and defects in the efficient handling of parasites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l A G 9: 44,420,496 (GRCm39) N1264D probably benign Het
Bmyc A G 2: 25,597,082 (GRCm39) K49E probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Ceacam2 A G 7: 25,230,166 (GRCm39) S147P probably benign Het
Cep152 G T 2: 125,444,856 (GRCm39) probably null Het
Cnbd1 G T 4: 18,894,993 (GRCm39) P250T possibly damaging Het
Col6a4 A G 9: 105,940,304 (GRCm39) C1209R possibly damaging Het
Coro1c T C 5: 113,990,334 (GRCm39) T116A probably benign Het
Ddx46 A G 13: 55,825,416 (GRCm39) probably benign Het
Dnaaf5 T C 5: 139,137,268 (GRCm39) I207T probably damaging Het
Erap1 A G 13: 74,794,758 (GRCm39) D139G probably benign Het
Fbxw22 A T 9: 109,231,087 (GRCm39) I121N possibly damaging Het
Fcmr T C 1: 130,802,872 (GRCm39) S162P probably benign Het
Gadl1 A G 9: 115,766,225 (GRCm39) probably benign Het
Gli2 T A 1: 118,764,465 (GRCm39) S1229C probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gne T C 4: 44,037,306 (GRCm39) N692D probably damaging Het
Knl1 A G 2: 118,902,489 (GRCm39) T1397A possibly damaging Het
Lama3 C A 18: 12,601,371 (GRCm39) A1016E probably damaging Het
Lhfpl2 A G 13: 94,328,419 (GRCm39) D160G probably benign Het
Lmtk2 T A 5: 144,112,769 (GRCm39) V1163E probably benign Het
Lrrtm2 G T 18: 35,345,868 (GRCm39) S478* probably null Het
Nlrp12 A G 7: 3,282,574 (GRCm39) I775T probably benign Het
Npr1 A G 3: 90,372,165 (GRCm39) F216L probably benign Het
Or4m1 A T 14: 50,557,617 (GRCm39) L225H probably damaging Het
Or5ac24 T A 16: 59,165,387 (GRCm39) N226Y probably benign Het
Or5b99 G T 19: 12,976,929 (GRCm39) S193I possibly damaging Het
Pkd1l1 C A 11: 8,783,800 (GRCm39) G2052C probably damaging Het
Ppp1r16b A G 2: 158,588,451 (GRCm39) N112S possibly damaging Het
Prr11 A G 11: 86,994,141 (GRCm39) probably benign Het
Scap A G 9: 110,210,724 (GRCm39) probably benign Het
Sirt1 C T 10: 63,171,608 (GRCm39) R191Q probably damaging Het
Slc38a6 A C 12: 73,397,320 (GRCm39) S321R possibly damaging Het
Sp140 T C 1: 85,570,940 (GRCm39) V460A probably benign Het
Spdye4c A T 2: 128,434,586 (GRCm39) K54N possibly damaging Het
Spta1 T A 1: 174,030,860 (GRCm39) N947K probably benign Het
Srgap1 A G 10: 121,621,598 (GRCm39) V965A possibly damaging Het
Tmem209 A C 6: 30,508,659 (GRCm39) probably null Het
Trim37 A T 11: 87,092,230 (GRCm39) K123* probably null Het
Trio T C 15: 27,744,244 (GRCm39) T2563A possibly damaging Het
Utrn A T 10: 12,289,717 (GRCm39) S734T possibly damaging Het
Vars2 A G 17: 35,975,513 (GRCm39) probably benign Het
Xrn1 G A 9: 95,859,858 (GRCm39) E417K probably benign Het
Yeats2 T A 16: 20,011,970 (GRCm39) V515E possibly damaging Het
Other mutations in Nfatc2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03137:Nfatc2ip APN 7 125,989,740 (GRCm39) missense possibly damaging 0.77
Weissgott UTSW 7 125,995,182 (GRCm39) missense possibly damaging 0.80
R0136:Nfatc2ip UTSW 7 125,990,507 (GRCm39) missense probably benign 0.11
R0521:Nfatc2ip UTSW 7 125,995,751 (GRCm39) missense possibly damaging 0.93
R0657:Nfatc2ip UTSW 7 125,990,507 (GRCm39) missense probably benign 0.11
R1610:Nfatc2ip UTSW 7 125,986,579 (GRCm39) missense probably damaging 0.99
R1768:Nfatc2ip UTSW 7 125,989,634 (GRCm39) missense probably benign 0.00
R1932:Nfatc2ip UTSW 7 125,984,164 (GRCm39) missense probably damaging 1.00
R2116:Nfatc2ip UTSW 7 125,984,280 (GRCm39) missense probably damaging 1.00
R2130:Nfatc2ip UTSW 7 125,989,634 (GRCm39) missense probably benign 0.00
R2202:Nfatc2ip UTSW 7 125,990,467 (GRCm39) missense probably benign 0.01
R2350:Nfatc2ip UTSW 7 125,995,170 (GRCm39) missense probably benign 0.30
R4946:Nfatc2ip UTSW 7 125,995,784 (GRCm39) missense possibly damaging 0.79
R5545:Nfatc2ip UTSW 7 125,989,642 (GRCm39) missense possibly damaging 0.86
R6229:Nfatc2ip UTSW 7 125,995,113 (GRCm39) critical splice donor site probably null
R6460:Nfatc2ip UTSW 7 125,986,909 (GRCm39) missense probably damaging 1.00
R6741:Nfatc2ip UTSW 7 125,995,182 (GRCm39) missense possibly damaging 0.80
R7355:Nfatc2ip UTSW 7 125,986,783 (GRCm39) critical splice donor site probably null
R7912:Nfatc2ip UTSW 7 125,989,617 (GRCm39) nonsense probably null
R8004:Nfatc2ip UTSW 7 125,989,577 (GRCm39) missense possibly damaging 0.89
R8206:Nfatc2ip UTSW 7 125,989,906 (GRCm39) missense probably damaging 1.00
R8851:Nfatc2ip UTSW 7 125,986,617 (GRCm39) missense probably damaging 1.00
R9799:Nfatc2ip UTSW 7 125,989,739 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16