Incidental Mutation 'R2194:Kitl'
ID 238296
Institutional Source Beutler Lab
Gene Symbol Kitl
Ensembl Gene ENSMUSG00000019966
Gene Name kit ligand
Synonyms blz, Mgf, SLF, SF, Kitlg, Steel factor, stem cell factor, Steel, Sl, SCF, Gb, grizzle-belly
MMRRC Submission 040196-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R2194 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 99851492-99936278 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 99851899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020129] [ENSMUST00000105283] [ENSMUST00000130190] [ENSMUST00000218200]
AlphaFold P20826
Predicted Effect probably null
Transcript: ENSMUST00000020129
SMART Domains Protein: ENSMUSP00000020129
Gene: ENSMUSG00000019966

DomainStartEndE-ValueType
Pfam:SCF 1 176 5.7e-102 PFAM
Pfam:SCF 173 245 1.7e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105283
SMART Domains Protein: ENSMUSP00000100920
Gene: ENSMUSG00000019966

DomainStartEndE-ValueType
Pfam:SCF 1 273 2.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130190
AA Change: V6G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123360
Gene: ENSMUSG00000019966
AA Change: V6G

DomainStartEndE-ValueType
Pfam:SCF 43 160 1.1e-69 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000218200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219050
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene affect migration of embryonic stem cells and cause similar phenotypes to mutations in its receptor gene (Kit). Mutants show mild to severe defects in pigmentation, hemopoiesis and reproduction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh2 T C 18: 16,773,505 (GRCm39) T275A probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Fkbp5 T C 17: 28,657,001 (GRCm39) D72G probably benign Het
Gm8104 T C 14: 42,959,017 (GRCm39) M69T possibly damaging Het
Greb1 T C 12: 16,740,909 (GRCm39) E1391G probably benign Het
Hif1a A G 12: 73,977,521 (GRCm39) N183S probably damaging Het
Hnrnpul1 A G 7: 25,425,347 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ighmbp2 T C 19: 3,315,116 (GRCm39) D768G probably benign Het
Mfsd4b4 T A 10: 39,768,919 (GRCm39) N104I probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2t49 T C 11: 58,392,468 (GRCm39) K305E probably damaging Het
Pcdhb4 T C 18: 37,441,788 (GRCm39) V366A probably damaging Het
Polb C T 8: 23,137,483 (GRCm39) R89H probably benign Het
Rfc4 TTTGTTGTTGTTG TTTGTTGTTG 16: 22,932,902 (GRCm39) probably benign Het
Rnf40 C A 7: 127,196,407 (GRCm39) A785D probably damaging Het
St7 A G 6: 17,942,718 (GRCm39) E494G probably damaging Het
Tnks1bp1 A G 2: 84,893,409 (GRCm39) E1112G probably benign Het
Zfp607a A G 7: 27,578,805 (GRCm39) E625G possibly damaging Het
Other mutations in Kitl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Kitl APN 10 99,923,206 (GRCm39) splice site probably benign
IGL02066:Kitl APN 10 99,912,744 (GRCm39) missense probably damaging 1.00
IGL03211:Kitl APN 10 99,916,721 (GRCm39) missense probably benign 0.19
Gregory UTSW 10 99,912,768 (GRCm39) critical splice donor site probably null
mooyah UTSW 10 99,924,084 (GRCm39) critical splice donor site probably null
Sandycheeks UTSW 10 99,912,768 (GRCm39) critical splice donor site probably null
R0131:Kitl UTSW 10 99,923,226 (GRCm39) missense probably benign 0.11
R0131:Kitl UTSW 10 99,923,226 (GRCm39) missense probably benign 0.11
R0132:Kitl UTSW 10 99,923,226 (GRCm39) missense probably benign 0.11
R1554:Kitl UTSW 10 99,923,300 (GRCm39) missense probably benign 0.38
R1649:Kitl UTSW 10 99,899,976 (GRCm39) missense probably benign 0.03
R2254:Kitl UTSW 10 99,915,993 (GRCm39) critical splice donor site probably null
R4877:Kitl UTSW 10 99,916,728 (GRCm39) missense probably damaging 1.00
R5135:Kitl UTSW 10 99,924,084 (GRCm39) critical splice donor site probably null
R5453:Kitl UTSW 10 99,923,247 (GRCm39) missense probably damaging 1.00
R5564:Kitl UTSW 10 99,915,886 (GRCm39) missense possibly damaging 0.89
R5832:Kitl UTSW 10 99,915,882 (GRCm39) missense probably damaging 1.00
R5971:Kitl UTSW 10 99,912,768 (GRCm39) critical splice donor site probably null
R6043:Kitl UTSW 10 99,899,947 (GRCm39) missense probably damaging 1.00
R6067:Kitl UTSW 10 99,912,768 (GRCm39) critical splice donor site probably null
R6138:Kitl UTSW 10 99,912,768 (GRCm39) critical splice donor site probably null
R6255:Kitl UTSW 10 99,925,095 (GRCm39) makesense probably null
R6450:Kitl UTSW 10 99,923,256 (GRCm39) start codon destroyed probably null 0.00
R6588:Kitl UTSW 10 99,899,954 (GRCm39) missense probably damaging 1.00
R6951:Kitl UTSW 10 99,887,714 (GRCm39) missense probably damaging 1.00
R7315:Kitl UTSW 10 99,851,974 (GRCm39) missense unknown
R7368:Kitl UTSW 10 99,851,943 (GRCm39) missense probably benign 0.02
R8010:Kitl UTSW 10 99,887,765 (GRCm39) missense probably benign 0.22
R8234:Kitl UTSW 10 99,887,708 (GRCm39) missense probably damaging 1.00
R9613:Kitl UTSW 10 99,916,781 (GRCm39) missense probably damaging 1.00
U15987:Kitl UTSW 10 99,912,768 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATTTGCTGTCTGTCACCGG -3'
(R):5'- CTTCAAACTTCGCAGCTGC -3'

Sequencing Primer
(F):5'- TCTGTCACCGGGACCGAG -3'
(R):5'- GCCACAGGCTCACTCTCAG -3'
Posted On 2014-10-02