Incidental Mutation 'R6255:Kitl'
ID 506065
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 044372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R6255 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 99851492-99936278 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 99925095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 57 (*57Q)
Ref Sequence ENSEMBL: ENSMUSP00000151554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020129] [ENSMUST00000105283] [ENSMUST00000218200]
AlphaFold P20826
Predicted Effect probably null
Transcript: ENSMUST00000020129
AA Change: *246Q
SMART Domains Protein: ENSMUSP00000020129
Gene: ENSMUSG00000019966
AA Change: *246Q

Pfam:SCF 1 176 5.7e-102 PFAM
Pfam:SCF 173 245 1.7e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105283
AA Change: *274Q
SMART Domains Protein: ENSMUSP00000100920
Gene: ENSMUSG00000019966
AA Change: *274Q

Pfam:SCF 1 273 2.3e-157 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000218200
AA Change: *57Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219881
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
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
4833420G17Rik T A 13: 119,602,659 (GRCm39) V7E possibly damaging Het
Aars2 G A 17: 45,825,535 (GRCm39) G333S probably damaging Het
Aen T A 7: 78,555,592 (GRCm39) I85N probably damaging Het
Ahnak C A 19: 8,985,389 (GRCm39) H2224Q possibly damaging Het
Aldh18a1 C T 19: 40,568,487 (GRCm39) R41H possibly damaging Het
Bpifb9b T A 2: 154,151,284 (GRCm39) W2R probably damaging Het
Caprin2 A G 6: 148,779,390 (GRCm39) I139T probably benign Het
Cdhr3 T A 12: 33,103,474 (GRCm39) N381I probably damaging Het
Cecr2 A G 6: 120,735,011 (GRCm39) Y721C probably damaging Het
Cfhr4 A T 1: 139,680,749 (GRCm39) C256* probably null Het
Cherp G T 8: 73,224,725 (GRCm39) A125D probably damaging Het
Cped1 G A 6: 22,138,714 (GRCm39) probably null Het
Ctdp1 T A 18: 80,502,512 (GRCm39) probably null Het
Cyp2c55 T C 19: 39,007,111 (GRCm39) I169T probably benign Het
Cyp4a31 T C 4: 115,432,117 (GRCm39) L418P possibly damaging Het
Efcab7 T C 4: 99,717,627 (GRCm39) probably benign Het
Efcab8 T C 2: 153,652,188 (GRCm39) W466R possibly damaging Het
Ehd3 C A 17: 74,112,408 (GRCm39) N57K probably benign Het
Ern2 C A 7: 121,772,495 (GRCm39) K654N probably damaging Het
Fbh1 A T 2: 11,753,257 (GRCm39) F879L probably benign Het
Gde1 T C 7: 118,291,004 (GRCm39) D92G probably null Het
Heatr5b A G 17: 79,110,863 (GRCm39) V995A probably damaging Het
Ifrd2 A G 9: 107,469,290 (GRCm39) E346G probably damaging Het
Ism1 AACGGACCCGTTCTTGTGGCTATGCA AA 2: 139,587,962 (GRCm39) probably benign Het
Itgb4 T C 11: 115,888,963 (GRCm39) V1102A possibly damaging Het
Itgb6 A T 2: 60,435,620 (GRCm39) I710N probably damaging Het
Kif1a T C 1: 92,947,705 (GRCm39) K1578E probably damaging Het
Kif9 T C 9: 110,346,902 (GRCm39) probably null Het
Lrat C A 3: 82,810,812 (GRCm39) V70F probably damaging Het
Lrrc9 T A 12: 72,533,797 (GRCm39) M1022K probably benign Het
Muc16 T C 9: 18,566,895 (GRCm39) T1875A unknown Het
Mup4 T A 4: 59,957,890 (GRCm39) N171I probably damaging Het
Npas4 G A 19: 5,036,403 (GRCm39) T587I probably damaging Het
Oas3 A G 5: 120,909,295 (GRCm39) V217A probably benign Het
Or6c1b A G 10: 129,273,557 (GRCm39) N292S possibly damaging Het
Osbp C A 19: 11,955,317 (GRCm39) A323D possibly damaging Het
Panx2 G A 15: 88,951,821 (GRCm39) R96H probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Piezo2 T C 18: 63,254,341 (GRCm39) R385G possibly damaging Het
Pkn2 T C 3: 142,517,360 (GRCm39) T476A probably damaging Het
Plekha4 T C 7: 45,203,226 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,280,969 (GRCm39) S94P probably damaging Het
Pramel7 T A 2: 87,320,007 (GRCm39) I429L probably benign Het
Rif1 A G 2: 51,975,065 (GRCm39) K325E probably damaging Het
Ror2 T C 13: 53,264,578 (GRCm39) Y826C probably damaging Het
Rsph10b G A 5: 143,896,564 (GRCm39) G19R probably damaging Het
Slc20a1 A G 2: 129,049,924 (GRCm39) N361D probably damaging Het
Slc26a9 A G 1: 131,691,647 (GRCm39) D630G probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Trank1 T C 9: 111,181,314 (GRCm39) probably null Het
Tspan10 T A 11: 120,335,368 (GRCm39) C159* probably null Het
Uba6 G A 5: 86,312,624 (GRCm39) T23I probably benign Het
Vmn2r74 T C 7: 85,601,659 (GRCm39) T660A possibly damaging Het
Vwa5b1 T C 4: 138,305,983 (GRCm39) N905S probably benign Het
Zfp831 T C 2: 174,488,214 (GRCm39) L963P possibly damaging Het
Zfp990 T A 4: 145,264,359 (GRCm39) N452K probably benign 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
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
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 2018-02-28