Incidental Mutation 'R6658:Il7'
ID 526698
Institutional Source Beutler Lab
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 # R6658 (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 A at 7642239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 33 (T33S)
Ref Sequence ENSEMBL: ENSMUSP00000141827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168269] [ENSMUST00000192202] [ENSMUST00000194184] [ENSMUST00000194279]
AlphaFold P10168
Predicted Effect probably benign
Transcript: ENSMUST00000168269
AA Change: T33S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126219
Gene: ENSMUSG00000040329
AA Change: T33S

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
AA Change: T33S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141508
Gene: ENSMUSG00000040329
AA Change: T33S

DomainStartEndE-ValueType
IL7 1 111 7.3e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194184
AA Change: T33S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141827
Gene: ENSMUSG00000040329
AA Change: T33S

DomainStartEndE-ValueType
IL7 1 111 7.3e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194279
AA Change: T74S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141845
Gene: ENSMUSG00000040329
AA Change: T74S

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
IL7 27 152 2.78e-86 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,077,353 (GRCm39) N1340S probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Antxr1 C A 6: 87,261,291 (GRCm39) R167L probably damaging Het
BC107364 T C 3: 96,348,026 (GRCm39) S88G unknown Het
Cfap100 T G 6: 90,390,400 (GRCm39) E80A probably damaging Het
Dhx8 C A 11: 101,655,748 (GRCm39) H1107Q probably damaging Het
Dip2c G A 13: 9,543,213 (GRCm39) probably null Het
Dpep2 A T 8: 106,716,542 (GRCm39) D212E probably benign Het
Dpep3 T C 8: 106,705,728 (GRCm39) T66A probably benign Het
Fat4 G T 3: 38,997,077 (GRCm39) M1765I probably benign Het
Gbgt1 G A 2: 28,394,998 (GRCm39) R212H probably benign Het
Gimap4 T C 6: 48,668,338 (GRCm39) S215P possibly damaging Het
Gpr161 A T 1: 165,134,136 (GRCm39) T133S possibly damaging Het
Grin2c G T 11: 115,149,108 (GRCm39) S163R possibly damaging Het
Grip2 T A 6: 91,763,472 (GRCm39) N109Y probably damaging Het
H60c G A 10: 3,210,270 (GRCm39) T93I possibly damaging Het
Hmgcl A G 4: 135,682,962 (GRCm39) N138S probably damaging Het
Hoxa3 G T 6: 52,147,058 (GRCm39) Y398* probably null Het
Igkv1-132 A G 6: 67,737,091 (GRCm39) N19S probably benign Het
Ikbip A G 10: 90,932,181 (GRCm39) N275S probably benign Het
Iqgap2 A T 13: 95,796,840 (GRCm39) Y1105N probably damaging Het
Lmo7 A G 14: 102,148,281 (GRCm39) D934G possibly damaging Het
Mroh4 T C 15: 74,492,978 (GRCm39) Q310R possibly damaging Het
Mtmr14 C A 6: 113,242,437 (GRCm39) Y22* probably null Het
Muc5b G T 7: 141,422,244 (GRCm39) probably null Het
Naga T G 15: 82,214,975 (GRCm39) K328Q probably benign Het
Neo1 G A 9: 58,829,132 (GRCm39) T589I probably benign Het
Nme5 A C 18: 34,711,639 (GRCm39) I34S probably damaging Het
Nrip2 T C 6: 128,385,199 (GRCm39) L210P possibly damaging Het
Nup93 A G 8: 95,030,807 (GRCm39) D424G probably benign Het
Or12e9 T C 2: 87,202,497 (GRCm39) V207A probably benign Het
Or1e26 G A 11: 73,479,874 (GRCm39) S230F probably damaging Het
Papss1 T A 3: 131,311,696 (GRCm39) V308E probably benign Het
Pilrb1 T A 5: 137,855,789 (GRCm39) Y34F probably benign Het
Pira2 T A 7: 3,845,300 (GRCm39) E319D probably benign Het
Pkhd1 G A 1: 20,682,929 (GRCm39) T91M probably damaging Het
Prph2 A G 17: 47,230,790 (GRCm39) T228A probably benign Het
Ranbp17 G T 11: 33,169,214 (GRCm39) S1000* probably null Het
Rbm27 A C 18: 42,457,178 (GRCm39) H651P probably damaging Het
Scyl2 A T 10: 89,476,835 (GRCm39) D763E probably benign Het
Sltm A G 9: 70,488,644 (GRCm39) Y598C probably damaging Het
Smc2 A T 4: 52,451,322 (GRCm39) K322I probably benign Het
Tcf4 G A 18: 69,790,873 (GRCm39) R271Q probably null Het
Tex36 C T 7: 133,196,140 (GRCm39) D87N probably damaging Het
Tex44 A C 1: 86,354,751 (GRCm39) H220P probably benign Het
Tjp1 T C 7: 64,950,825 (GRCm39) D1683G possibly damaging Het
Trav7-2 T C 14: 53,628,573 (GRCm39) S104P probably damaging Het
Trim55 C T 3: 19,745,719 (GRCm39) R532C probably damaging Het
Ube3c T A 5: 29,807,215 (GRCm39) L338Q probably damaging Het
Ush2a A G 1: 188,546,556 (GRCm39) H3444R possibly damaging Het
Vars1 A G 17: 35,234,717 (GRCm39) D1182G probably benign Het
Vit T A 17: 78,930,232 (GRCm39) I399N possibly damaging Het
Vmn1r16 A T 6: 57,300,091 (GRCm39) L177* probably null 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
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
Predicted Primers PCR Primer
(F):5'- AAGAGACACTTGTGCCTTCAC -3'
(R):5'- TTGATGCCAGTAAGTAGAATCAGG -3'

Sequencing Primer
(F):5'- CCTTCACAGTCAGTGTTTTG -3'
(R):5'- ATCAAATATTAGACTGGTGTGTGTG -3'
Posted On 2018-07-23