Incidental Mutation 'R8224:Il7'
ID 636873
Institutional Source Beutler Lab
Gene Symbol Il7
Ensembl Gene ENSMUSG00000040329
Gene Name interleukin 7
Synonyms Il-7, hlb368, A630026I06Rik
MMRRC Submission 067660-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R8224 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 7637088-7678820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7642308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 51 (M51V)
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: M10V

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126219
Gene: ENSMUSG00000040329
AA Change: M10V

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
IL7 27 152 2.78e-86 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192202
AA Change: M10V

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141508
Gene: ENSMUSG00000040329
AA Change: M10V

DomainStartEndE-ValueType
IL7 1 111 7.3e-71 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194184
AA Change: M10V

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141827
Gene: ENSMUSG00000040329
AA Change: M10V

DomainStartEndE-ValueType
IL7 1 111 7.3e-71 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194279
AA Change: M51V

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141845
Gene: ENSMUSG00000040329
AA Change: M51V

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
IL7 27 152 2.78e-86 SMART
Meta Mutation Damage Score 0.5678 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,249 (GRCm39) E45V probably damaging Het
Adamts9 A T 6: 92,773,351 (GRCm39) V1754D probably damaging Het
Ankrd26 G A 6: 118,502,716 (GRCm39) T818M probably damaging Het
Card11 T C 5: 140,888,632 (GRCm39) E242G possibly damaging Het
Cdh20 G T 1: 109,921,933 (GRCm39) L8F probably benign Het
Cenpa T C 5: 30,830,699 (GRCm39) probably benign Het
Cfap61 T C 2: 145,781,800 (GRCm39) V11A probably benign Het
Chfr T A 5: 110,308,109 (GRCm39) probably null Het
Col14a1 A T 15: 55,271,137 (GRCm39) Y630F unknown Het
Cst5 A G 2: 149,251,902 (GRCm39) N126D possibly damaging Het
Cubn T C 2: 13,354,688 (GRCm39) T1903A probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Gon4l A G 3: 88,802,449 (GRCm39) E1020G probably damaging Het
Gp1ba A G 11: 70,530,683 (GRCm39) N150D unknown Het
Gstm2 T C 3: 107,891,314 (GRCm39) I169V probably benign Het
Ighv1-75 A T 12: 115,797,859 (GRCm39) V21D probably benign Het
Insm2 A T 12: 55,646,763 (GRCm39) D169V probably damaging Het
Jmjd1c A G 10: 67,080,628 (GRCm39) D373G noncoding transcript Het
Kif16b T C 2: 142,676,008 (GRCm39) N431D probably benign Het
Kmt2a A C 9: 44,719,326 (GRCm39) I3925S unknown Het
Lgi4 G A 7: 30,763,017 (GRCm39) C164Y probably damaging Het
Lrfn5 A T 12: 61,890,192 (GRCm39) I494F possibly damaging Het
Map9 T C 3: 82,266,370 (GRCm39) I5T probably benign Het
Ncf2 T C 1: 152,706,144 (GRCm39) V252A possibly damaging Het
Nlrp4g A T 9: 124,353,374 (GRCm38) I573F noncoding transcript Het
Nrn1 G A 13: 36,918,258 (GRCm39) L3F probably damaging Het
Or1ab2 A G 8: 72,864,223 (GRCm39) D271G noncoding transcript Het
Or2d2 T A 7: 106,728,079 (GRCm39) I174F probably damaging Het
Or5h24 A T 16: 58,919,117 (GRCm39) D79E unknown Het
Or6c8 A G 10: 128,915,304 (GRCm39) F176S possibly damaging Het
Otop1 C A 5: 38,457,846 (GRCm39) T535K possibly damaging Het
Pacs2 A G 12: 113,023,380 (GRCm39) T333A probably damaging Het
Pax3 T C 1: 78,098,327 (GRCm39) Y354C probably damaging Het
Phlpp1 T C 1: 106,320,348 (GRCm39) S1448P probably damaging Het
Pias4 C A 10: 81,003,565 (GRCm39) probably benign Het
Ppp1r12b T C 1: 134,830,200 (GRCm39) N113S probably benign Het
Ptpn12 G T 5: 21,203,656 (GRCm39) P374Q probably damaging Het
Reg4 A T 3: 98,132,011 (GRCm39) probably benign Het
Sh3bp5 T C 14: 31,099,473 (GRCm39) D256G probably damaging Het
Slc25a32 C G 15: 38,976,015 (GRCm39) probably benign Het
Tnip2 C T 5: 34,671,003 (GRCm39) R80Q possibly damaging Het
Uroc1 A G 6: 90,321,049 (GRCm39) probably null Het
Washc2 A C 6: 116,218,457 (GRCm39) K634T probably damaging Het
Xpot A T 10: 121,443,513 (GRCm39) Y405N probably damaging Het
Yes1 T C 5: 32,816,417 (GRCm39) Y365H probably benign Het
Zfp607a A T 7: 27,577,536 (GRCm39) E202V probably damaging Het
Zfp932 T C 5: 110,144,480 (GRCm39) probably benign Het
Zfp947 A C 17: 22,364,363 (GRCm39) M437R probably benign Het
Zscan10 A G 17: 23,828,366 (GRCm39) T303A probably benign Het
Other mutations in Il7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Il7 APN 3 7,638,903 (GRCm39) missense possibly damaging 0.73
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
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
Predicted Primers PCR Primer
(F):5'- AAGAGACACTTGTGCCTTCAC -3'
(R):5'- CTTGATGCCAGTAAGTAGAATCAGG -3'

Sequencing Primer
(F):5'- TATCTCCTGGAGACAGGGT -3'
(R):5'- CAGGAAAATTGACTTTCATGAAACTG -3'
Posted On 2020-07-13