Incidental Mutation 'R7819:Kit'
ID 601731
Institutional Source Beutler Lab
Gene Symbol Kit
Ensembl Gene ENSMUSG00000005672
Gene Name KIT proto-oncogene receptor tyrosine kinase
Synonyms SCO5, Dominant white spotting, Tr-kit, belly-spot, CD117, Gsfsow3, Gsfsco5, SOW3, SCO1, Steel Factor Receptor, c-KIT, Gsfsco1
MMRRC Submission 045873-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R7819 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 75574916-75656722 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75645932 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 699 (E699G)
Ref Sequence ENSEMBL: ENSMUSP00000005815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005815] [ENSMUST00000144270]
AlphaFold P05532
PDB Structure Structure of a class III RTK signaling assembly [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000005815
AA Change: E699G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: E699G

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 probably benign
Transcript: ENSMUST00000144270
AA Change: E695G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: E695G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik C G 6: 52,179,274 (GRCm38) probably benign Het
Abcg3 T C 5: 104,977,728 (GRCm38) T30A probably benign Het
Adra1b A T 11: 43,835,367 (GRCm38) V241D probably damaging Het
Ahctf1 A T 1: 179,768,315 (GRCm38) N170K probably benign Het
Ahr A G 12: 35,510,000 (GRCm38) L218P probably damaging Het
Apol8 C T 15: 77,749,759 (GRCm38) V206M probably damaging Het
Arhgap11a T A 2: 113,834,918 (GRCm38) probably null Het
B3galnt1 T C 3: 69,575,775 (GRCm38) Y51C probably damaging Het
C1ra G A 6: 124,517,725 (GRCm38) E316K probably benign Het
C77080 A G 4: 129,222,483 (GRCm38) V841A probably benign Het
Capn3 T C 2: 120,464,165 (GRCm38) V98A probably benign Het
Casp12 T C 9: 5,352,805 (GRCm38) L209P probably damaging Het
Ccdc96 A T 5: 36,485,985 (GRCm38) Q445L probably damaging Het
Cdc37 A G 9: 21,140,964 (GRCm38) S301P probably damaging Het
Cep89 A T 7: 35,432,543 (GRCm38) H634L probably benign Het
Chmp3 T A 6: 71,561,024 (GRCm38) Y12* probably null Het
Clgn A T 8: 83,408,200 (GRCm38) I156F possibly damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 104,309,702 (GRCm38) probably null Het
Col4a3bp A T 13: 96,629,067 (GRCm38) T447S possibly damaging Het
Crb2 T A 2: 37,791,591 (GRCm38) N815K probably benign Het
Csgalnact2 A C 6: 118,121,089 (GRCm38) L97V possibly damaging Het
Ctsh T A 9: 90,060,503 (GRCm38) M37K possibly damaging Het
D630003M21Rik T C 2: 158,216,798 (GRCm38) E394G probably damaging Het
Ddx31 T G 2: 28,892,451 (GRCm38) L602R probably damaging Het
Defb40 T A 8: 18,975,034 (GRCm38) Y52F probably benign Het
Dip2a A G 10: 76,291,028 (GRCm38) V710A probably benign Het
Dnah2 T C 11: 69,516,593 (GRCm38) I150V probably benign Het
Eln A T 5: 134,737,181 (GRCm38) L56Q unknown Het
Ezh1 T C 11: 101,194,914 (GRCm38) N639S probably damaging Het
Fzd3 A G 14: 65,235,326 (GRCm38) F331S probably damaging Het
Gbp9 T C 5: 105,103,879 (GRCm38) T68A possibly damaging Het
Gltp A G 5: 114,674,100 (GRCm38) M104T probably benign Het
Gm3854 A C 7: 6,354,166 (GRCm38) H326P probably damaging Het
Gmps G A 3: 63,985,627 (GRCm38) V118M probably damaging Het
Gpsm1 T C 2: 26,339,693 (GRCm38) L42P probably damaging Het
Hsfy2 T A 1: 56,636,259 (GRCm38) H373L probably benign Het
Ica1l A T 1: 60,015,794 (GRCm38) F93I possibly damaging Het
Idh1 A G 1: 65,165,118 (GRCm38) S278P probably damaging Het
Ighmbp2 C T 19: 3,267,276 (GRCm38) G532D possibly damaging Het
Ikbkb A G 8: 22,671,726 (GRCm38) L382S probably benign Het
Il1rap T A 16: 26,722,401 (GRCm38) M464K possibly damaging Het
Ing2 G A 8: 47,669,028 (GRCm38) R162C probably damaging Het
Ints1 A T 5: 139,760,767 (GRCm38) L1275H probably damaging Het
Ispd A G 12: 36,381,903 (GRCm38) T44A probably benign Het
Itga1 T C 13: 115,049,301 (GRCm38) E55G probably damaging Het
Itih4 T C 14: 30,901,663 (GRCm38) F930L probably benign Het
Kcnh8 A G 17: 52,956,715 (GRCm38) T747A probably benign Het
Lamc3 T C 2: 31,921,763 (GRCm38) S921P probably benign Het
Lrrc63 TGGCGGCGGCGGCGGCGGCGGC TGGCGGCGGCGGCGGCGGCGGCGGC 14: 75,125,221 (GRCm38) probably benign Het
Map10 TCAGTTGTCCAG TCAG 8: 125,670,521 (GRCm38) probably null Het
Map2k5 T C 9: 63,358,018 (GRCm38) E76G probably damaging Het
Mgat3 G T 15: 80,211,772 (GRCm38) E267* probably null Het
Npepps C A 11: 97,248,269 (GRCm38) G159V probably damaging Het
Nrap A G 19: 56,335,288 (GRCm38) V1284A probably benign Het
Olfr518 T A 7: 108,881,403 (GRCm38) I68F probably damaging Het
Olfr792 A T 10: 129,540,693 (GRCm38) H52L probably benign Het
Oxgr1 T C 14: 120,022,869 (GRCm38) probably null Het
Pcdhb18 T C 18: 37,491,255 (GRCm38) L546P possibly damaging Het
Pcdhga5 G A 18: 37,696,580 (GRCm38) V694M probably damaging Het
Pde9a A T 17: 31,460,200 (GRCm38) I255F possibly damaging Het
Pi4k2a G A 19: 42,090,574 (GRCm38) G25R probably benign Het
Plscr4 C T 9: 92,490,790 (GRCm38) R322* probably null Het
Ppp1r37 A G 7: 19,534,064 (GRCm38) I302T probably damaging Het
Prkar2a T A 9: 108,745,545 (GRCm38) Y311N probably damaging Het
Prkd3 A T 17: 78,972,501 (GRCm38) D254E probably benign Het
Prmt9 T C 8: 77,568,344 (GRCm38) V439A probably benign Het
Ptpra T C 2: 130,504,206 (GRCm38) S96P probably benign Het
Rnf103 A G 6: 71,508,930 (GRCm38) T182A probably benign Het
Rpusd4 A G 9: 35,267,932 (GRCm38) S15G probably benign Het
Sco1 A G 11: 67,058,393 (GRCm38) Y229C probably damaging Het
Skint5 T A 4: 113,559,835 (GRCm38) Q1139L unknown Het
Slc16a12 A G 19: 34,675,179 (GRCm38) V189A probably damaging Het
Slfn8 T G 11: 83,004,255 (GRCm38) N575T probably damaging Het
Sorbs1 G C 19: 40,376,800 (GRCm38) R180G probably benign Het
Stard9 T C 2: 120,700,984 (GRCm38) L2574P probably damaging Het
Syn3 A T 10: 86,055,540 (GRCm38) probably benign Het
Tspo2 A T 17: 48,449,957 (GRCm38) D32E probably damaging Het
Vmn1r72 A G 7: 11,669,625 (GRCm38) F299L probably benign Het
Wdr66 A G 5: 123,254,259 (GRCm38) probably benign Het
Xbp1 G A 11: 5,524,886 (GRCm38) M262I probably benign Het
Zfp354b G A 11: 50,923,805 (GRCm38) Q98* probably null Het
Other mutations in Kit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Kit APN 5 75,610,819 (GRCm38) missense probably benign 0.00
IGL00834:Kit APN 5 75,645,959 (GRCm38) missense probably damaging 1.00
IGL00846:Kit APN 5 75,640,811 (GRCm38) missense probably damaging 0.98
IGL01149:Kit APN 5 75,610,876 (GRCm38) missense probably damaging 0.97
IGL01341:Kit APN 5 75,607,074 (GRCm38) missense probably damaging 1.00
IGL02004:Kit APN 5 75,621,014 (GRCm38) missense probably benign
IGL02281:Kit APN 5 75,654,534 (GRCm38) missense possibly damaging 0.66
IGL02424:Kit APN 5 75,639,106 (GRCm38) missense probably benign
IGL02697:Kit APN 5 75,607,259 (GRCm38) missense probably benign
IGL02929:Kit APN 5 75,640,769 (GRCm38) missense probably damaging 1.00
IGL03053:Kit APN 5 75,610,914 (GRCm38) missense probably benign
IGL03127:Kit APN 5 75,641,188 (GRCm38) missense probably benign 0.44
IGL03174:Kit APN 5 75,607,113 (GRCm38) missense probably benign
IGL03381:Kit APN 5 75,607,128 (GRCm38) missense probably benign 0.04
casper UTSW 5 75,645,875 (GRCm38) missense probably damaging 1.00
Mooyah2 UTSW 5 75,652,808 (GRCm38) missense probably damaging 1.00
pretty2 UTSW 5 75,649,550 (GRCm38) missense probably damaging 1.00
slimmer UTSW 5 75,640,757 (GRCm38) missense possibly damaging 0.94
IGL02837:Kit UTSW 5 75,639,008 (GRCm38) missense probably benign 0.00
R0022:Kit UTSW 5 75,622,997 (GRCm38) missense probably benign 0.00
R0022:Kit UTSW 5 75,622,997 (GRCm38) missense probably benign 0.00
R0092:Kit UTSW 5 75,647,754 (GRCm38) missense possibly damaging 0.93
R0254:Kit UTSW 5 75,620,921 (GRCm38) missense probably benign
R0329:Kit UTSW 5 75,652,829 (GRCm38) missense probably damaging 1.00
R0609:Kit UTSW 5 75,610,879 (GRCm38) missense probably benign 0.35
R1068:Kit UTSW 5 75,609,518 (GRCm38) missense probably benign
R1115:Kit UTSW 5 75,649,532 (GRCm38) splice site probably benign
R1480:Kit UTSW 5 75,637,317 (GRCm38) missense probably benign 0.00
R1639:Kit UTSW 5 75,652,807 (GRCm38) missense probably damaging 1.00
R1801:Kit UTSW 5 75,648,393 (GRCm38) missense probably damaging 1.00
R1973:Kit UTSW 5 75,615,442 (GRCm38) missense probably damaging 1.00
R2033:Kit UTSW 5 75,637,317 (GRCm38) missense possibly damaging 0.88
R3125:Kit UTSW 5 75,647,828 (GRCm38) missense probably null 0.00
R3125:Kit UTSW 5 75,647,827 (GRCm38) missense probably benign 0.07
R3437:Kit UTSW 5 75,645,905 (GRCm38) missense probably damaging 1.00
R3791:Kit UTSW 5 75,639,150 (GRCm38) missense probably damaging 1.00
R3939:Kit UTSW 5 75,609,318 (GRCm38) missense probably benign 0.00
R3940:Kit UTSW 5 75,609,318 (GRCm38) missense probably benign 0.00
R3941:Kit UTSW 5 75,609,318 (GRCm38) missense probably benign 0.00
R3942:Kit UTSW 5 75,609,318 (GRCm38) missense probably benign 0.00
R4092:Kit UTSW 5 75,610,810 (GRCm38) missense probably benign 0.28
R4376:Kit UTSW 5 75,640,499 (GRCm38) missense probably benign 0.00
R4377:Kit UTSW 5 75,640,499 (GRCm38) missense probably benign 0.00
R4668:Kit UTSW 5 75,641,220 (GRCm38) splice site probably null
R5104:Kit UTSW 5 75,615,478 (GRCm38) missense probably benign 0.00
R5152:Kit UTSW 5 75,620,847 (GRCm38) missense probably benign 0.00
R5154:Kit UTSW 5 75,640,540 (GRCm38) missense probably damaging 0.99
R5508:Kit UTSW 5 75,649,548 (GRCm38) missense probably damaging 1.00
R5624:Kit UTSW 5 75,609,394 (GRCm38) missense probably benign 0.40
R5731:Kit UTSW 5 75,654,415 (GRCm38) missense possibly damaging 0.93
R6270:Kit UTSW 5 75,609,509 (GRCm38) missense probably benign
R6565:Kit UTSW 5 75,645,853 (GRCm38) missense probably damaging 1.00
R6694:Kit UTSW 5 75,640,757 (GRCm38) missense possibly damaging 0.94
R6805:Kit UTSW 5 75,652,808 (GRCm38) missense probably damaging 1.00
R6823:Kit UTSW 5 75,652,649 (GRCm38) missense probably benign 0.01
R6848:Kit UTSW 5 75,607,212 (GRCm38) missense probably benign
R7021:Kit UTSW 5 75,620,967 (GRCm38) missense probably benign 0.00
R7080:Kit UTSW 5 75,607,281 (GRCm38) missense probably damaging 0.99
R7117:Kit UTSW 5 75,607,098 (GRCm38) missense probably benign 0.18
R7156:Kit UTSW 5 75,615,374 (GRCm38) missense probably benign 0.14
R7379:Kit UTSW 5 75,647,752 (GRCm38) missense probably damaging 1.00
R7427:Kit UTSW 5 75,645,847 (GRCm38) missense possibly damaging 0.92
R7438:Kit UTSW 5 75,639,000 (GRCm38) missense probably benign 0.01
R7531:Kit UTSW 5 75,607,040 (GRCm38) missense probably damaging 0.99
R7711:Kit UTSW 5 75,637,359 (GRCm38) missense probably damaging 0.97
R7810:Kit UTSW 5 75,609,322 (GRCm38) missense probably benign 0.11
R8021:Kit UTSW 5 75,615,491 (GRCm38) missense possibly damaging 0.79
R8139:Kit UTSW 5 75,652,805 (GRCm38) missense probably damaging 0.99
R8165:Kit UTSW 5 75,620,880 (GRCm38) missense possibly damaging 0.94
R8249:Kit UTSW 5 75,641,408 (GRCm38) missense probably damaging 0.97
R8288:Kit UTSW 5 75,654,489 (GRCm38) missense probably damaging 1.00
R8290:Kit UTSW 5 75,641,169 (GRCm38) missense probably benign
R8829:Kit UTSW 5 75,639,131 (GRCm38) missense probably benign 0.41
R8832:Kit UTSW 5 75,639,131 (GRCm38) missense probably benign 0.41
R8969:Kit UTSW 5 75,639,062 (GRCm38) missense
R9081:Kit UTSW 5 75,640,558 (GRCm38) missense probably benign
R9146:Kit UTSW 5 75,649,645 (GRCm38) missense probably damaging 1.00
R9232:Kit UTSW 5 75,639,132 (GRCm38) missense probably benign 0.00
R9631:Kit UTSW 5 75,607,029 (GRCm38) missense possibly damaging 0.95
U24488:Kit UTSW 5 75,623,014 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AATGTTAATAGCCGCGGTCAC -3'
(R):5'- CTTCCGGAATAGTTAATCACGC -3'

Sequencing Primer
(F):5'- TAATAGCCGCGGTCACCCATG -3'
(R):5'- CCGGAATAGTTAATCACGCTTAAAC -3'
Posted On 2019-12-03