Incidental Mutation 'IGL03137:Nfatc2ip'
ID 410592
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 # IGL03137
Quality Score
Status
Chromosome 7
Chromosomal Location 125982026-125995909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 125989740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 215 (V215L)
Ref Sequence ENSEMBL: ENSMUSP00000075094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075671]
AlphaFold O09130
PDB Structure The crystal structure of SUMO-like domain 2 in Nip45 [X-RAY DIFFRACTION]
The crystal structure of the SLD2:Ubc9 complex [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075671
AA Change: V215L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075094
Gene: ENSMUSG00000030722
AA Change: V215L

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 benign
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankub1 T C 3: 57,597,778 (GRCm39) D64G probably damaging Het
Apobec2 C T 17: 48,730,303 (GRCm39) W121* probably null Het
Arid2 A G 15: 96,269,199 (GRCm39) N1104S probably benign Het
Bltp1 T A 3: 37,088,751 (GRCm39) M569K probably damaging Het
Brap T C 5: 121,803,156 (GRCm39) probably benign Het
Cilp A C 9: 65,185,450 (GRCm39) N515T probably benign Het
Cpeb2 T A 5: 43,419,067 (GRCm39) probably benign Het
Creb1 C T 1: 64,615,374 (GRCm39) T242I possibly damaging Het
Ddx60 T C 8: 62,441,117 (GRCm39) V1062A possibly damaging Het
Dock8 A G 19: 25,133,312 (GRCm39) E1153G probably benign Het
Gk5 A G 9: 96,058,345 (GRCm39) probably benign Het
Gm5478 G T 15: 101,552,817 (GRCm39) N60K probably benign Het
Hmcn2 T A 2: 31,252,242 (GRCm39) V904D probably damaging Het
Hnmt T A 2: 23,938,751 (GRCm39) H29L probably damaging Het
Hsf1 A G 15: 76,380,649 (GRCm39) probably benign Het
Igkv1-122 C A 6: 67,994,400 (GRCm39) T96K probably damaging Het
Iyd T C 10: 3,501,987 (GRCm39) I211T probably damaging Het
Kcnn1 G T 8: 71,303,381 (GRCm39) H34N probably damaging Het
Krtap5-3 G T 7: 141,755,946 (GRCm39) probably benign Het
Map3k19 C T 1: 127,752,052 (GRCm39) R433K probably benign Het
Mss51 A C 14: 20,537,200 (GRCm39) C89W probably damaging Het
Myh9 A T 15: 77,675,289 (GRCm39) I276N probably damaging Het
Myof T C 19: 37,963,337 (GRCm39) E420G probably damaging Het
Or10ag52 A T 2: 87,043,500 (GRCm39) Y88F probably benign Het
Or51m1 T C 7: 103,578,801 (GRCm39) M257T probably benign Het
Or5d18 G A 2: 87,864,754 (GRCm39) A243V probably benign Het
Pcdhb4 T C 18: 37,441,569 (GRCm39) I293T probably damaging Het
Pdcd6ip A G 9: 113,486,213 (GRCm39) S729P possibly damaging Het
Pick1 C A 15: 79,129,501 (GRCm39) H169N possibly damaging Het
Ppp4r4 A C 12: 103,547,643 (GRCm39) K212T probably damaging Het
Racgap1 A G 15: 99,526,622 (GRCm39) S314P probably damaging Het
Rasef C A 4: 73,652,720 (GRCm39) E594* probably null Het
Ryr3 T G 2: 112,740,742 (GRCm39) K522Q probably benign Het
Shoc1 G T 4: 59,094,162 (GRCm39) F187L probably benign Het
Six5 T C 7: 18,831,072 (GRCm39) probably benign Het
Slc26a9 G T 1: 131,691,615 (GRCm39) E619D probably benign Het
Sqor A G 2: 122,649,991 (GRCm39) I412V probably benign Het
Srrt T A 5: 137,294,379 (GRCm39) probably benign Het
Sult1e1 C T 5: 87,726,475 (GRCm39) R213K probably benign Het
Tmc2 T A 2: 130,082,050 (GRCm39) L411H probably damaging Het
Tmem63b T A 17: 45,975,921 (GRCm39) N511Y probably damaging Het
Ucp3 T A 7: 100,131,969 (GRCm39) probably benign Het
Vmn1r201 A T 13: 22,658,974 (GRCm39) I63F probably benign Het
Vps13c G T 9: 67,797,662 (GRCm39) L522F probably damaging Het
Wwp1 T A 4: 19,678,408 (GRCm39) T3S probably damaging Het
Zc3hav1 A G 6: 38,309,329 (GRCm39) S498P probably benign Het
Other mutations in Nfatc2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Nfatc2ip APN 7 125,989,736 (GRCm39) splice site probably null
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 2016-08-02