Incidental Mutation 'U24488:Kit'
ID 509863
Institutional Source Beutler Lab
Gene Symbol Kit
Ensembl Gene ENSMUSG00000005672
Gene Name KIT proto-oncogene receptor tyrosine kinase
Synonyms Gsfsco1, CD117, SCO1, Gsfsow3, belly-spot, SCO5, SOW3, Tr-kit, c-KIT, Steel Factor Receptor, Gsfsco5, Dominant white spotting
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # U24488 (G0')
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 75735647-75817382 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 75783674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 384 (R384*)
Ref Sequence ENSEMBL: ENSMUSP00000116465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005815] [ENSMUST00000144270]
AlphaFold P05532
Predicted Effect probably null
Transcript: ENSMUST00000005815
AA Change: R384*
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: R384*

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
low complexity region 25 38 N/A INTRINSIC
IG 43 113 3.02e0 SMART
IG_like 122 206 1.09e2 SMART
IGc2 225 300 3.79e-4 SMART
IG 323 413 1.21e-2 SMART
IG_like 429 501 1.88e0 SMART
transmembrane domain 524 546 N/A INTRINSIC
TyrKc 592 926 2.5e-138 SMART
low complexity region 945 963 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143221
Predicted Effect probably null
Transcript: ENSMUST00000144270
AA Change: R384*
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: R384*

DomainStartEndE-ValueType
low complexity region 1 10 N/A INTRINSIC
low complexity region 22 30 N/A INTRINSIC
low complexity region 37 50 N/A INTRINSIC
IG 55 125 3.02e0 SMART
IG_like 134 218 1.09e2 SMART
IGc2 237 312 3.79e-4 SMART
IG 335 425 1.21e-2 SMART
IG_like 441 513 1.88e0 SMART
transmembrane domain 532 554 N/A INTRINSIC
TyrKc 600 934 2.5e-138 SMART
low complexity region 953 971 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency
MGI Phenotype FUNCTION: The c-Kit proto-oncogene is the cellular homolog of the transforming gene of a feline retrovirus (v-Kit). The c-kit protein includes characteristics of a protein kinase transmembrane receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hematopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,580,772 (GRCm39) Y922C probably damaging Het
Arhgef40 A G 14: 52,235,673 (GRCm39) T1185A probably benign Het
Atf7ip2 A G 16: 10,022,537 (GRCm39) N72S probably damaging Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Ccdc171 A T 4: 83,579,954 (GRCm39) E567V probably damaging Het
Chmp1b T A 18: 67,338,945 (GRCm39) L125Q probably damaging Het
Cnr1 T A 4: 33,944,927 (GRCm39) N438K probably benign Het
Cplane1 G T 15: 8,211,694 (GRCm39) G345C probably damaging Het
Csmd3 G A 15: 47,573,795 (GRCm39) T2091M probably damaging Het
Cyp4a29 A T 4: 115,108,204 (GRCm39) H342L possibly damaging Het
Dnah10 G A 5: 124,891,044 (GRCm39) D3212N probably damaging Het
Dnah2 G A 11: 69,374,648 (GRCm39) T1447I probably damaging Het
F11 A G 8: 45,695,349 (GRCm39) S540P probably benign Het
Fcrl6 T A 1: 172,426,437 (GRCm39) H120L probably damaging Het
Frmd6 T C 12: 70,940,653 (GRCm39) S433P probably damaging Het
Fundc1 G T X: 17,434,342 (GRCm39) A64E probably damaging Het
Garin2 A T 12: 78,761,811 (GRCm39) K158N probably damaging Het
Grid1 A G 14: 35,302,534 (GRCm39) E933G probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hoxb3 C A 11: 96,235,456 (GRCm39) Q128K probably benign Het
Il6st C T 13: 112,631,168 (GRCm39) T369M possibly damaging Het
Itk A C 11: 46,228,971 (GRCm39) M403R probably damaging Het
Katnip A T 7: 125,369,853 (GRCm39) D147V probably damaging Het
Kif2c T C 4: 117,039,639 (GRCm39) Q17R probably benign Het
Kifap3 T C 1: 163,610,604 (GRCm39) I28T possibly damaging Het
Ksr1 T A 11: 78,938,267 (GRCm39) I42F probably damaging Het
Lhcgr T A 17: 89,079,513 (GRCm39) probably null Het
Lrrc36 C T 8: 106,176,384 (GRCm39) H253Y probably benign Het
Mad1l1 T A 5: 140,300,840 (GRCm39) N19Y probably damaging Het
Marf1 A T 16: 13,950,230 (GRCm39) L1022* probably null Het
Mical3 T G 6: 120,978,457 (GRCm39) Q225P possibly damaging Het
Minar1 C A 9: 89,485,100 (GRCm39) G99V probably damaging Het
Myt1l T A 12: 29,876,895 (GRCm39) M182K unknown Het
Nepro A G 16: 44,554,949 (GRCm39) T342A probably benign Het
Nlrp5 A T 7: 23,117,653 (GRCm39) D459V possibly damaging Het
Nrcam C T 12: 44,584,042 (GRCm39) P39S probably damaging Het
Or2ag1b A T 7: 106,288,296 (GRCm39) I214N probably damaging Het
Ostm1 A G 10: 42,555,227 (GRCm39) D83G possibly damaging Het
Otoa A T 7: 120,717,763 (GRCm39) probably null Het
Pi4ka A G 16: 17,143,040 (GRCm39) I824T probably damaging Het
Plec C T 15: 76,061,930 (GRCm39) R2534H probably benign Het
Plin2 A G 4: 86,580,314 (GRCm39) V60A probably damaging Het
Rps6ka4 A G 19: 6,809,724 (GRCm39) L367P probably damaging Het
Senp7 A G 16: 56,005,182 (GRCm39) N912D probably damaging Het
Slc25a21 G T 12: 56,785,282 (GRCm39) N198K possibly damaging Het
Slc4a10 A G 2: 61,877,002 (GRCm39) D5G probably benign Het
Tex16 T C X: 111,028,815 (GRCm39) V438A probably benign Het
Tmem37 T C 1: 119,995,684 (GRCm39) Y131C probably benign Het
Top2a A C 11: 98,913,252 (GRCm39) M60R probably damaging Het
Ush2a C T 1: 188,162,963 (GRCm39) T1015I probably damaging Het
Vmn1r172 A T 7: 23,359,171 (GRCm39) I19F probably benign Het
Vmn1r230 A C 17: 21,067,014 (GRCm39) I68L probably benign Het
Vmn2r45 A C 7: 8,475,361 (GRCm39) C556G probably damaging Het
Vmn2r54 A G 7: 12,349,356 (GRCm39) I742T possibly damaging Het
Vps13c A G 9: 67,813,198 (GRCm39) K960E probably benign Het
Wdcp T A 12: 4,900,405 (GRCm39) V87E probably damaging Het
Wiz C T 17: 32,606,649 (GRCm39) E29K probably damaging Het
Wnk3 C T X: 149,992,456 (GRCm39) T298I probably damaging Het
Yif1b A C 7: 28,943,594 (GRCm39) Q56P probably benign Het
Zbtb25 A G 12: 76,396,014 (GRCm39) W403R probably benign Het
Zcrb1 A T 15: 93,285,515 (GRCm39) S155R probably damaging Het
Zmym4 A T 4: 126,819,453 (GRCm39) I150K possibly damaging Het
Other mutations in Kit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Kit APN 5 75,771,479 (GRCm39) missense probably benign 0.00
IGL00834:Kit APN 5 75,806,619 (GRCm39) missense probably damaging 1.00
IGL00846:Kit APN 5 75,801,471 (GRCm39) missense probably damaging 0.98
IGL01149:Kit APN 5 75,771,536 (GRCm39) missense probably damaging 0.97
IGL01341:Kit APN 5 75,767,734 (GRCm39) missense probably damaging 1.00
IGL02004:Kit APN 5 75,781,674 (GRCm39) missense probably benign
IGL02281:Kit APN 5 75,815,194 (GRCm39) missense possibly damaging 0.66
IGL02424:Kit APN 5 75,799,766 (GRCm39) missense probably benign
IGL02697:Kit APN 5 75,767,919 (GRCm39) missense probably benign
IGL02929:Kit APN 5 75,801,429 (GRCm39) missense probably damaging 1.00
IGL03053:Kit APN 5 75,771,574 (GRCm39) missense probably benign
IGL03127:Kit APN 5 75,801,848 (GRCm39) missense probably benign 0.44
IGL03174:Kit APN 5 75,767,773 (GRCm39) missense probably benign
IGL03381:Kit APN 5 75,767,788 (GRCm39) missense probably benign 0.04
casper UTSW 5 75,806,535 (GRCm39) missense probably damaging 1.00
Mooyah2 UTSW 5 75,813,468 (GRCm39) missense probably damaging 1.00
pretty2 UTSW 5 75,810,210 (GRCm39) missense probably damaging 1.00
slimmer UTSW 5 75,801,417 (GRCm39) missense possibly damaging 0.94
IGL02837:Kit UTSW 5 75,799,668 (GRCm39) missense probably benign 0.00
R0022:Kit UTSW 5 75,783,657 (GRCm39) missense probably benign 0.00
R0022:Kit UTSW 5 75,783,657 (GRCm39) missense probably benign 0.00
R0092:Kit UTSW 5 75,808,414 (GRCm39) missense possibly damaging 0.93
R0254:Kit UTSW 5 75,781,581 (GRCm39) missense probably benign
R0329:Kit UTSW 5 75,813,489 (GRCm39) missense probably damaging 1.00
R0609:Kit UTSW 5 75,771,539 (GRCm39) missense probably benign 0.35
R1068:Kit UTSW 5 75,770,178 (GRCm39) missense probably benign
R1115:Kit UTSW 5 75,810,192 (GRCm39) splice site probably benign
R1480:Kit UTSW 5 75,797,977 (GRCm39) missense probably benign 0.00
R1639:Kit UTSW 5 75,813,467 (GRCm39) missense probably damaging 1.00
R1801:Kit UTSW 5 75,809,053 (GRCm39) missense probably damaging 1.00
R1973:Kit UTSW 5 75,776,102 (GRCm39) missense probably damaging 1.00
R2033:Kit UTSW 5 75,797,977 (GRCm39) missense possibly damaging 0.88
R3125:Kit UTSW 5 75,808,488 (GRCm39) missense probably null 0.00
R3125:Kit UTSW 5 75,808,487 (GRCm39) missense probably benign 0.07
R3437:Kit UTSW 5 75,806,565 (GRCm39) missense probably damaging 1.00
R3791:Kit UTSW 5 75,799,810 (GRCm39) missense probably damaging 1.00
R3939:Kit UTSW 5 75,769,978 (GRCm39) missense probably benign 0.00
R3940:Kit UTSW 5 75,769,978 (GRCm39) missense probably benign 0.00
R3941:Kit UTSW 5 75,769,978 (GRCm39) missense probably benign 0.00
R3942:Kit UTSW 5 75,769,978 (GRCm39) missense probably benign 0.00
R4092:Kit UTSW 5 75,771,470 (GRCm39) missense probably benign 0.28
R4376:Kit UTSW 5 75,801,159 (GRCm39) missense probably benign 0.00
R4377:Kit UTSW 5 75,801,159 (GRCm39) missense probably benign 0.00
R4668:Kit UTSW 5 75,801,880 (GRCm39) splice site probably null
R5104:Kit UTSW 5 75,776,138 (GRCm39) missense probably benign 0.00
R5152:Kit UTSW 5 75,781,507 (GRCm39) missense probably benign 0.00
R5154:Kit UTSW 5 75,801,200 (GRCm39) missense probably damaging 0.99
R5508:Kit UTSW 5 75,810,208 (GRCm39) missense probably damaging 1.00
R5624:Kit UTSW 5 75,770,054 (GRCm39) missense probably benign 0.40
R5731:Kit UTSW 5 75,815,075 (GRCm39) missense possibly damaging 0.93
R6270:Kit UTSW 5 75,770,169 (GRCm39) missense probably benign
R6565:Kit UTSW 5 75,806,513 (GRCm39) missense probably damaging 1.00
R6694:Kit UTSW 5 75,801,417 (GRCm39) missense possibly damaging 0.94
R6805:Kit UTSW 5 75,813,468 (GRCm39) missense probably damaging 1.00
R6823:Kit UTSW 5 75,813,309 (GRCm39) missense probably benign 0.01
R6848:Kit UTSW 5 75,767,872 (GRCm39) missense probably benign
R7021:Kit UTSW 5 75,781,627 (GRCm39) missense probably benign 0.00
R7080:Kit UTSW 5 75,767,941 (GRCm39) missense probably damaging 0.99
R7117:Kit UTSW 5 75,767,758 (GRCm39) missense probably benign 0.18
R7156:Kit UTSW 5 75,776,034 (GRCm39) missense probably benign 0.14
R7379:Kit UTSW 5 75,808,412 (GRCm39) missense probably damaging 1.00
R7427:Kit UTSW 5 75,806,507 (GRCm39) missense possibly damaging 0.92
R7438:Kit UTSW 5 75,799,660 (GRCm39) missense probably benign 0.01
R7531:Kit UTSW 5 75,767,700 (GRCm39) missense probably damaging 0.99
R7711:Kit UTSW 5 75,798,019 (GRCm39) missense probably damaging 0.97
R7810:Kit UTSW 5 75,769,982 (GRCm39) missense probably benign 0.11
R7819:Kit UTSW 5 75,806,592 (GRCm39) missense probably benign 0.41
R8021:Kit UTSW 5 75,776,151 (GRCm39) missense possibly damaging 0.79
R8139:Kit UTSW 5 75,813,465 (GRCm39) missense probably damaging 0.99
R8165:Kit UTSW 5 75,781,540 (GRCm39) missense possibly damaging 0.94
R8249:Kit UTSW 5 75,802,068 (GRCm39) missense probably damaging 0.97
R8288:Kit UTSW 5 75,815,149 (GRCm39) missense probably damaging 1.00
R8290:Kit UTSW 5 75,801,829 (GRCm39) missense probably benign
R8829:Kit UTSW 5 75,799,791 (GRCm39) missense probably benign 0.41
R8832:Kit UTSW 5 75,799,791 (GRCm39) missense probably benign 0.41
R8969:Kit UTSW 5 75,799,722 (GRCm39) missense
R9081:Kit UTSW 5 75,801,218 (GRCm39) missense probably benign
R9146:Kit UTSW 5 75,810,305 (GRCm39) missense probably damaging 1.00
R9232:Kit UTSW 5 75,799,792 (GRCm39) missense probably benign 0.00
R9631:Kit UTSW 5 75,767,689 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CCTTTGTTCCCCAAATAGAGTGC -3'
(R):5'- TCTGCAGCTGTTAGACCCAC -3'

Sequencing Primer
(F):5'- CCCCAAATAGAGTGCTCTGTGTG -3'
(R):5'- TGTTAGACCCACGGGCTG -3'
Posted On 2018-04-02