Incidental Mutation 'R1554:Kitl'
ID 170166
Institutional Source Beutler Lab
Gene Symbol Kitl
Ensembl Gene ENSMUSG00000019966
Gene Name kit ligand
Synonyms Gb, grizzle-belly, Mgf, SCF, SF, Sl, SLF, Steel, Steel factor, stem cell factor
MMRRC Submission 039593-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R1554 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 100015630-100100416 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100087438 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 15 (F15L)
Ref Sequence ENSEMBL: ENSMUSP00000151554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020129] [ENSMUST00000105283] [ENSMUST00000218200]
AlphaFold P20826
Predicted Effect probably benign
Transcript: ENSMUST00000020129
AA Change: F204L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020129
Gene: ENSMUSG00000019966
AA Change: F204L

Pfam:SCF 1 176 5.7e-102 PFAM
Pfam:SCF 173 245 1.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105283
AA Change: F232L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100920
Gene: ENSMUSG00000019966
AA Change: F232L

Pfam:SCF 1 273 2.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218200
AA Change: F15L

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219881
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,908,902 (GRCm38) D70E possibly damaging Het
Adamts7 A T 9: 90,173,650 (GRCm38) D152V probably damaging Het
Api5 T C 2: 94,425,643 (GRCm38) D233G probably benign Het
Btaf1 A G 19: 36,996,598 (GRCm38) D1390G probably benign Het
Cep135 G A 5: 76,634,213 (GRCm38) W893* probably null Het
Cgas A T 9: 78,435,556 (GRCm38) S321R probably damaging Het
Cmtm6 T A 9: 114,746,482 (GRCm38) V153D possibly damaging Het
Dnah11 C T 12: 118,082,499 (GRCm38) V1735I possibly damaging Het
Dnm1l T C 16: 16,341,426 (GRCm38) N104S probably benign Het
Dpyd A T 3: 119,065,046 (GRCm38) probably null Het
Dtx1 T C 5: 120,683,321 (GRCm38) K387R probably damaging Het
Ercc4 A G 16: 13,147,622 (GRCm38) D706G probably damaging Het
Fat2 T C 11: 55,253,664 (GRCm38) N4128S probably benign Het
Gm42669 T A 5: 107,507,787 (GRCm38) C639S possibly damaging Het
Grk3 T A 5: 112,969,269 (GRCm38) I89L possibly damaging Het
Grm8 A T 6: 28,125,853 (GRCm38) D91E probably benign Het
Havcr1 C A 11: 46,752,507 (GRCm38) H85N probably benign Het
Il12rb1 G A 8: 70,813,372 (GRCm38) probably null Het
Kif3a A G 11: 53,598,327 (GRCm38) K117E probably damaging Het
Ktn1 T G 14: 47,695,507 (GRCm38) L706R probably damaging Het
Lipg T C 18: 74,948,047 (GRCm38) Y321C probably damaging Het
Mapk8ip3 T C 17: 24,903,059 (GRCm38) D710G probably benign Het
Mchr1 A G 15: 81,235,820 (GRCm38) N16S probably benign Het
Myadml2 A T 11: 120,647,727 (GRCm38) L94* probably null Het
Npr3 C A 15: 11,848,563 (GRCm38) M439I probably benign Het
Obscn A G 11: 59,003,648 (GRCm38) I6677T unknown Het
Ogn A C 13: 49,621,044 (GRCm38) D221A probably benign Het
Or8b40 T C 9: 38,115,934 (GRCm38) I46T probably benign Het
Pard3b C A 1: 62,637,894 (GRCm38) Q1195K probably damaging Het
Pcsk4 T C 10: 80,321,951 (GRCm38) E608G probably benign Het
Pdlim1 T C 19: 40,223,072 (GRCm38) D259G probably benign Het
Per1 T C 11: 69,103,627 (GRCm38) S526P probably damaging Het
Pfkfb2 A G 1: 130,706,472 (GRCm38) V156A probably damaging Het
Ppp4r3a A T 12: 101,055,822 (GRCm38) D307E probably damaging Het
Rims4 T C 2: 163,879,122 (GRCm38) S70G probably damaging Het
Rnf213 T C 11: 119,441,839 (GRCm38) F2625L probably benign Het
Sap130 T C 18: 31,666,472 (GRCm38) L334P probably damaging Het
Slc16a10 T C 10: 40,076,800 (GRCm38) I233V probably benign Het
Slc16a7 A C 10: 125,230,922 (GRCm38) F283V possibly damaging Het
Slc25a24 T C 3: 109,136,270 (GRCm38) M81T probably benign Het
Slc30a9 A G 5: 67,326,921 (GRCm38) R134G probably damaging Het
Slc35d3 G T 10: 19,850,737 (GRCm38) L96M probably damaging Het
Slc7a11 C T 3: 50,381,896 (GRCm38) G333D probably damaging Het
Stam T C 2: 14,141,828 (GRCm38) S446P probably benign Het
Stk38 T A 17: 28,979,232 (GRCm38) N248I possibly damaging Het
Tasor2 A G 13: 3,576,374 (GRCm38) V1192A possibly damaging Het
Tle6 A C 10: 81,595,385 (GRCm38) S221A probably benign Het
Tmprss11b G A 5: 86,661,631 (GRCm38) T334I probably benign Het
Tmprss11c T A 5: 86,289,260 (GRCm38) M1L possibly damaging Het
Tpm1 T C 9: 67,023,429 (GRCm38) H262R probably benign Het
Tspan33 T C 6: 29,711,082 (GRCm38) S118P possibly damaging Het
Tyk2 A G 9: 21,107,922 (GRCm38) V1068A probably damaging Het
Ubr2 T C 17: 46,972,951 (GRCm38) I591V probably benign Het
Utp20 A T 10: 88,764,737 (GRCm38) Y38* probably null Het
Vmn1r217 A T 13: 23,114,294 (GRCm38) I146N possibly damaging Het
Zfp608 T C 18: 54,898,054 (GRCm38) Y938C probably damaging Het
Other mutations in Kitl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Kitl APN 10 100,087,344 (GRCm38) splice site probably benign
IGL02066:Kitl APN 10 100,076,882 (GRCm38) missense probably damaging 1.00
IGL03211:Kitl APN 10 100,080,859 (GRCm38) missense probably benign 0.19
Gregory UTSW 10 100,076,906 (GRCm38) critical splice donor site probably null
mooyah UTSW 10 100,088,222 (GRCm38) critical splice donor site probably null
Sandycheeks UTSW 10 100,076,906 (GRCm38) critical splice donor site probably null
R0131:Kitl UTSW 10 100,087,364 (GRCm38) missense probably benign 0.11
R0131:Kitl UTSW 10 100,087,364 (GRCm38) missense probably benign 0.11
R0132:Kitl UTSW 10 100,087,364 (GRCm38) missense probably benign 0.11
R1649:Kitl UTSW 10 100,064,114 (GRCm38) missense probably benign 0.03
R2194:Kitl UTSW 10 100,016,037 (GRCm38) critical splice donor site probably null
R2254:Kitl UTSW 10 100,080,131 (GRCm38) critical splice donor site probably null
R4877:Kitl UTSW 10 100,080,866 (GRCm38) missense probably damaging 1.00
R5135:Kitl UTSW 10 100,088,222 (GRCm38) critical splice donor site probably null
R5453:Kitl UTSW 10 100,087,385 (GRCm38) missense probably damaging 1.00
R5564:Kitl UTSW 10 100,080,024 (GRCm38) missense possibly damaging 0.89
R5832:Kitl UTSW 10 100,080,020 (GRCm38) missense probably damaging 1.00
R5971:Kitl UTSW 10 100,076,906 (GRCm38) critical splice donor site probably null
R6043:Kitl UTSW 10 100,064,085 (GRCm38) missense probably damaging 1.00
R6067:Kitl UTSW 10 100,076,906 (GRCm38) critical splice donor site probably null
R6138:Kitl UTSW 10 100,076,906 (GRCm38) critical splice donor site probably null
R6255:Kitl UTSW 10 100,089,233 (GRCm38) makesense probably null
R6450:Kitl UTSW 10 100,087,394 (GRCm38) start codon destroyed probably null 0.00
R6588:Kitl UTSW 10 100,064,092 (GRCm38) missense probably damaging 1.00
R6951:Kitl UTSW 10 100,051,852 (GRCm38) missense probably damaging 1.00
R7315:Kitl UTSW 10 100,016,112 (GRCm38) missense unknown
R7368:Kitl UTSW 10 100,016,081 (GRCm38) missense probably benign 0.02
R8010:Kitl UTSW 10 100,051,903 (GRCm38) missense probably benign 0.22
R8234:Kitl UTSW 10 100,051,846 (GRCm38) missense probably damaging 1.00
R9613:Kitl UTSW 10 100,080,919 (GRCm38) missense probably damaging 1.00
U15987:Kitl UTSW 10 100,076,906 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13