Incidental Mutation 'R2254:Kitl'
ID 241884
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 040254-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R2254 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 99851492-99936278 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 99915993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100920 (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

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

Pfam:SCF 1 273 2.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130190
SMART Domains Protein: ENSMUSP00000123360
Gene: ENSMUSG00000019966

Pfam:SCF 43 160 1.1e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218200
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,311,365 (GRCm39) E260G probably benign Het
AI429214 G T 8: 37,460,920 (GRCm39) D23Y possibly damaging Het
Alms1 A G 6: 85,596,830 (GRCm39) Y1021C probably damaging Het
Ang5 A G 14: 44,200,074 (GRCm39) D46G probably benign Het
Ano9 T A 7: 140,683,003 (GRCm39) D635V probably benign Het
Apob C T 12: 8,061,256 (GRCm39) T3246I possibly damaging Het
Arhgef25 T C 10: 127,025,390 (GRCm39) E63G probably benign Het
B3gnt4 A C 5: 123,649,342 (GRCm39) I236L probably damaging Het
Bmper T A 9: 23,292,759 (GRCm39) I356N possibly damaging Het
Capn3 A G 2: 120,331,732 (GRCm39) E614G probably benign Het
Ccdc90b T A 7: 92,221,776 (GRCm39) H118Q probably damaging Het
Cdcp3 G T 7: 130,824,634 (GRCm39) C243F probably damaging Het
Cdh2 A T 18: 16,776,985 (GRCm39) probably null Het
Chmp7 C T 14: 69,958,405 (GRCm39) V255I probably damaging Het
Dnhd1 T A 7: 105,352,979 (GRCm39) S2711T probably damaging Het
Gabrg1 T A 5: 70,939,707 (GRCm39) K137* probably null Het
Gdi2 T A 13: 3,604,400 (GRCm39) probably null Het
Glyr1 A G 16: 4,836,877 (GRCm39) V429A probably benign Het
Gm5938 T A X: 77,172,161 (GRCm39) probably null Het
Golt1b T C 6: 142,341,979 (GRCm39) L121P probably damaging Het
Gpi1 T C 7: 33,902,302 (GRCm39) N471S probably damaging Het
Ifi204 G A 1: 173,589,296 (GRCm39) T45M possibly damaging Het
Il18r1 A G 1: 40,530,380 (GRCm39) N369S possibly damaging Het
Kcnh1 G T 1: 192,187,722 (GRCm39) probably null Het
Krt33a A T 11: 99,905,004 (GRCm39) D167E possibly damaging Het
Lax1 A G 1: 133,607,971 (GRCm39) S257P probably damaging Het
Lepr T C 4: 101,672,309 (GRCm39) I1111T probably benign Het
Lrrcc1 G A 3: 14,612,315 (GRCm39) R356H probably damaging Het
Map1a A G 2: 121,134,272 (GRCm39) D1458G possibly damaging Het
Med11 T C 11: 70,342,921 (GRCm39) probably null Het
Mtmr2 T C 9: 13,707,353 (GRCm39) Y230H possibly damaging Het
Nup93 T C 8: 94,954,485 (GRCm39) probably null Het
Or51ag1 A G 7: 103,155,271 (GRCm39) V294A probably damaging Het
Ovch2 A G 7: 107,389,402 (GRCm39) V342A probably benign Het
Ovgp1 A G 3: 105,894,228 (GRCm39) probably benign Het
Oxtr A T 6: 112,466,067 (GRCm39) L231Q probably damaging Het
Prap1 A G 7: 139,676,075 (GRCm39) T30A probably damaging Het
Scg2 G A 1: 79,414,217 (GRCm39) P169S probably damaging Het
Scube2 A G 7: 109,424,666 (GRCm39) V549A possibly damaging Het
Slc22a12 A T 19: 6,592,571 (GRCm39) V57D possibly damaging Het
Slc22a28 A C 19: 8,041,858 (GRCm39) C450G probably benign Het
Tas2r120 A T 6: 132,634,572 (GRCm39) Q218L probably benign Het
Tbx15 A G 3: 99,259,190 (GRCm39) T354A possibly damaging Het
Trim24 A G 6: 37,935,612 (GRCm39) T868A probably benign Het
Ttn T A 2: 76,598,684 (GRCm39) M19410L possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Upb1 G A 10: 75,272,051 (GRCm39) R288H probably damaging Het
Wdr20rt T A 12: 65,273,007 (GRCm39) W56R probably damaging Het
Wdr62 T G 7: 29,967,328 (GRCm39) I309L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp40 T C 17: 23,397,344 (GRCm39) D51G possibly damaging Het
Zfp64 G A 2: 168,768,662 (GRCm39) H317Y probably 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
R2194:Kitl UTSW 10 99,851,899 (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

Sequencing Primer
Posted On 2014-10-16