Incidental Mutation 'IGL01988:Il7'
ID 181998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il7
Ensembl Gene ENSMUSG00000040329
Gene Name interleukin 7
Synonyms Il-7, hlb368, A630026I06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # IGL01988
Quality Score
Status
Chromosome 3
Chromosomal Location 7637088-7678820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7669126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 37 (Y37H)
Ref Sequence ENSEMBL: ENSMUSP00000141845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168269] [ENSMUST00000192202] [ENSMUST00000194184] [ENSMUST00000194279]
AlphaFold P10168
Predicted Effect probably benign
Transcript: ENSMUST00000168269
SMART Domains Protein: ENSMUSP00000126219
Gene: ENSMUSG00000040329

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
IL7 27 152 2.78e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191681
Predicted Effect probably benign
Transcript: ENSMUST00000192202
SMART Domains Protein: ENSMUSP00000141508
Gene: ENSMUSG00000040329

DomainStartEndE-ValueType
IL7 1 111 7.3e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194184
SMART Domains Protein: ENSMUSP00000141827
Gene: ENSMUSG00000040329

DomainStartEndE-ValueType
IL7 1 111 7.3e-71 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194279
AA Change: Y37H

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141845
Gene: ENSMUSG00000040329
AA Change: Y37H

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
IL7 27 152 2.78e-86 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a hematopoietic growth factor important for B and T cell development. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutant mice exhibit an increased white blood count. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,101,107 (GRCm39) S493R probably benign Het
Abca17 T C 17: 24,553,229 (GRCm39) N161D probably damaging Het
Ace2 C A X: 162,946,988 (GRCm39) N290K possibly damaging Het
Adam26a G A 8: 44,022,207 (GRCm39) P428S possibly damaging Het
Adgrv1 T C 13: 81,705,428 (GRCm39) R1461G probably damaging Het
Arhgef10l T C 4: 140,305,672 (GRCm39) probably benign Het
Bicc1 A G 10: 70,792,006 (GRCm39) V334A probably damaging Het
C8a T C 4: 104,683,891 (GRCm39) Y408C probably damaging Het
Col24a1 T C 3: 145,229,922 (GRCm39) probably null Het
Copa T A 1: 171,945,831 (GRCm39) N931K probably benign Het
Cr1l A G 1: 194,799,858 (GRCm39) M272T probably damaging Het
Dcaf12 T C 4: 41,298,299 (GRCm39) N283S probably benign Het
Dnttip2 T A 3: 122,069,944 (GRCm39) S386R probably benign Het
Fbll1 G T 11: 35,688,728 (GRCm39) D178E probably benign Het
Fgd6 A G 10: 93,910,197 (GRCm39) probably benign Het
Fyn T A 10: 39,409,917 (GRCm39) L408* probably null Het
Gkn2 T C 6: 87,356,257 (GRCm39) V176A probably benign Het
Gm10764 G A 10: 87,126,953 (GRCm39) C120Y unknown Het
Gpr19 A T 6: 134,846,247 (GRCm39) F442I probably damaging Het
Herc1 A G 9: 66,395,357 (GRCm39) probably benign Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Kif1c A G 11: 70,595,762 (GRCm39) D156G probably damaging Het
Lrch1 T C 14: 75,032,813 (GRCm39) probably benign Het
Nedd1 G T 10: 92,550,021 (GRCm39) T88K probably benign Het
Nlrc3 T G 16: 3,771,803 (GRCm39) S875R probably benign Het
Optc A G 1: 133,834,667 (GRCm39) probably null Het
Or4a78 T A 2: 89,497,424 (GRCm39) I269F probably benign Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pde1b A G 15: 103,433,283 (GRCm39) probably null Het
Phf11a A T 14: 59,514,807 (GRCm39) D291E probably damaging Het
Slc30a8 A T 15: 52,198,601 (GRCm39) I349L probably benign Het
Spty2d1 T A 7: 46,647,358 (GRCm39) S524C probably damaging Het
Syndig1 T C 2: 149,845,090 (GRCm39) probably benign Het
Syvn1 G A 19: 6,102,437 (GRCm39) A502T probably benign Het
Tenm2 A G 11: 35,918,078 (GRCm39) L1894P probably damaging Het
Tmem176a T A 6: 48,819,554 (GRCm39) V11E possibly damaging Het
Tpr G T 1: 150,302,750 (GRCm39) probably null Het
Txnrd2 T C 16: 18,274,768 (GRCm39) probably benign Het
Ubqln3 G A 7: 103,792,089 (GRCm39) probably benign Het
Vmn1r6 C T 6: 56,979,650 (GRCm39) T82I probably damaging Het
Wdfy4 C T 14: 32,798,437 (GRCm39) E1990K possibly damaging Het
Zdhhc7 T C 8: 120,809,329 (GRCm39) R293G probably benign Het
Zeb1 T A 18: 5,759,037 (GRCm39) L148* probably null Het
Other mutations in Il7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Il7 APN 3 7,638,903 (GRCm39) missense possibly damaging 0.73
R0417:Il7 UTSW 3 7,641,087 (GRCm39) missense probably damaging 0.98
R2056:Il7 UTSW 3 7,638,975 (GRCm39) missense probably damaging 0.99
R2058:Il7 UTSW 3 7,638,975 (GRCm39) missense probably damaging 0.99
R2059:Il7 UTSW 3 7,638,975 (GRCm39) missense probably damaging 0.99
R3414:Il7 UTSW 3 7,641,093 (GRCm39) missense probably benign 0.01
R3825:Il7 UTSW 3 7,642,226 (GRCm39) splice site probably benign
R3873:Il7 UTSW 3 7,669,224 (GRCm39) missense probably damaging 0.98
R6658:Il7 UTSW 3 7,642,239 (GRCm39) missense probably benign 0.00
R7658:Il7 UTSW 3 7,669,142 (GRCm39) missense probably benign 0.37
R8224:Il7 UTSW 3 7,642,308 (GRCm39) missense possibly damaging 0.73
R9050:Il7 UTSW 3 7,669,170 (GRCm39) missense possibly damaging 0.85
R9787:Il7 UTSW 3 7,641,171 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07