Incidental Mutation 'IGL01573:Il7'
ID 91155
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 # IGL01573
Quality Score
Status
Chromosome 3
Chromosomal Location 7637088-7678820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7638903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 154 (I154M)
Ref Sequence ENSEMBL: ENSMUSP00000141845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168269] [ENSMUST00000192202] [ENSMUST00000194184] [ENSMUST00000194279]
AlphaFold P10168
Predicted Effect possibly damaging
Transcript: ENSMUST00000168269
AA Change: I113M

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126219
Gene: ENSMUSG00000040329
AA Change: I113M

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 possibly damaging
Transcript: ENSMUST00000192202
AA Change: I113M

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141508
Gene: ENSMUSG00000040329
AA Change: I113M

DomainStartEndE-ValueType
IL7 1 111 7.3e-71 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194184
AA Change: I113M

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141827
Gene: ENSMUSG00000040329
AA Change: I113M

DomainStartEndE-ValueType
IL7 1 111 7.3e-71 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194279
AA Change: I154M

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141845
Gene: ENSMUSG00000040329
AA Change: I154M

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3gntl1 A G 11: 121,561,789 (GRCm39) S58P probably damaging Het
Cacna1e T C 1: 154,347,113 (GRCm39) D1018G probably benign Het
Cenpq T C 17: 41,240,936 (GRCm39) I108V possibly damaging Het
Itga9 C A 9: 118,706,298 (GRCm39) probably benign Het
Klhl1 A G 14: 96,438,640 (GRCm39) probably benign Het
Lrrc72 T A 12: 36,262,561 (GRCm39) probably null Het
Mbd3 G T 10: 80,229,095 (GRCm39) Q233K probably benign Het
Mettl5 G A 2: 69,711,659 (GRCm39) A69V probably damaging Het
Naip1 C A 13: 100,563,890 (GRCm39) C425F probably benign Het
Ncor2 T C 5: 125,162,090 (GRCm39) I395V unknown Het
Nelfb A G 2: 25,093,969 (GRCm39) L393P probably damaging Het
Or4a70 A T 2: 89,324,545 (GRCm39) M37K probably damaging Het
Rgs5 T C 1: 169,504,413 (GRCm39) I21T probably benign Het
Slc22a2 G A 17: 12,824,848 (GRCm39) V237I probably damaging Het
Slc5a1 A G 5: 33,318,209 (GRCm39) M621V probably benign Het
Slco1a4 A G 6: 141,758,577 (GRCm39) probably benign Het
Smg1 A G 7: 117,767,185 (GRCm39) probably benign Het
Trim3 A G 7: 105,274,700 (GRCm39) M15T possibly damaging Het
Other mutations in Il7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01988:Il7 APN 3 7,669,126 (GRCm39) missense possibly damaging 0.91
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 2013-12-09