Incidental Mutation 'R7117:Kit'
ID 551837
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
MMRRC Submission 045208-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R7117 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 75735647-75817382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75767758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 47 (I47K)
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: I47K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: I47K

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: I47K

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: I47K

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (95/98)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,339,250 (GRCm39) Y254C probably benign Het
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Adam12 T C 7: 133,518,191 (GRCm39) I650V probably benign Het
Adam39 G T 8: 41,279,279 (GRCm39) G557C probably damaging Het
Ak5 A G 3: 152,321,493 (GRCm39) probably null Het
Arhgef10l C T 4: 140,291,497 (GRCm39) probably null Het
Arhgef37 C T 18: 61,637,481 (GRCm39) E394K probably benign Het
Baz2b A G 2: 59,742,841 (GRCm39) V13A Het
Bnc1 G T 7: 81,623,109 (GRCm39) A706E possibly damaging Het
Bscl2 G A 19: 8,825,878 (GRCm39) A421T possibly damaging Het
Btn1a1 A C 13: 23,643,415 (GRCm39) W345G possibly damaging Het
C3 A T 17: 57,519,655 (GRCm39) M1199K probably benign Het
Ccdc18 T G 5: 108,296,835 (GRCm39) L213V possibly damaging Het
Cers2 T C 3: 95,228,072 (GRCm39) probably null Het
Chpt1 T A 10: 88,316,711 (GRCm39) H249L probably damaging Het
Cited2 A G 10: 17,600,364 (GRCm39) E224G possibly damaging Het
Cntn5 T A 9: 10,904,704 (GRCm39) probably benign Het
Col28a1 A G 6: 8,013,122 (GRCm39) S977P possibly damaging Het
Col6a1 T C 10: 76,560,843 (GRCm39) K52E probably damaging Het
Cpne2 T A 8: 95,282,172 (GRCm39) H239Q probably damaging Het
Cr2 A T 1: 194,842,909 (GRCm39) N244K possibly damaging Het
Csf2rb2 T C 15: 78,169,385 (GRCm39) D590G probably damaging Het
Defb25 A C 2: 152,464,380 (GRCm39) C55G probably damaging Het
Dnah7b A T 1: 46,391,973 (GRCm39) probably null Het
Dvl3 T A 16: 20,346,072 (GRCm39) Y467* probably null Het
Elapor2 T A 5: 9,495,384 (GRCm39) C729* probably null Het
Extl2 T C 3: 115,821,088 (GRCm39) S312P probably damaging Het
Fam178b T C 1: 36,639,548 (GRCm39) T313A probably benign Het
Fam186b A G 15: 99,183,471 (GRCm39) Y58H probably damaging Het
Fat1 A T 8: 45,484,505 (GRCm39) I3248L probably damaging Het
Fat2 A G 11: 55,172,088 (GRCm39) F2875S probably damaging Het
Flnb T A 14: 7,894,214 (GRCm38) N760K probably benign Het
Galnt14 T C 17: 73,801,190 (GRCm39) H544R probably benign Het
Gpr137c A C 14: 45,516,484 (GRCm39) R357S probably damaging Het
Grk2 A G 19: 4,340,630 (GRCm39) probably null Het
Hectd2 A T 19: 36,577,055 (GRCm39) T342S probably benign Het
Hjv G T 3: 96,435,542 (GRCm39) V267L possibly damaging Het
Ildr2 G T 1: 166,123,380 (GRCm39) G270C probably damaging Het
Insm2 C A 12: 55,647,357 (GRCm39) A367D probably damaging Het
Kcnh5 T A 12: 75,161,219 (GRCm39) I230F possibly damaging Het
Keg1 T A 19: 12,687,042 (GRCm39) S24T probably damaging Het
Kera A T 10: 97,448,714 (GRCm39) E311D probably benign Het
Megf6 A G 4: 154,343,379 (GRCm39) T663A possibly damaging Het
Mettl21c G A 1: 44,049,808 (GRCm39) A79V probably damaging Het
Mfsd1 T A 3: 67,507,391 (GRCm39) probably null Het
Mob3b A G 4: 34,985,914 (GRCm39) probably null Het
Morc2b T A 17: 33,356,926 (GRCm39) H282L probably benign Het
Mtpap T C 18: 4,380,889 (GRCm39) probably null Het
Mtus1 A G 8: 41,536,621 (GRCm39) V365A possibly damaging Het
Muc5ac T A 7: 141,367,559 (GRCm39) Y2993* probably null Het
Mycbp2 A C 14: 103,391,513 (GRCm39) F3422V probably benign Het
Ndufb7 T A 8: 84,297,490 (GRCm39) D48E probably benign Het
Nxpe5 A G 5: 138,237,704 (GRCm39) Y88C probably damaging Het
Or51a6 T A 7: 102,604,185 (GRCm39) M208L probably benign Het
Or5d3 A G 2: 88,174,905 (GRCm39) L64P probably damaging Het
Osbpl5 T A 7: 143,263,520 (GRCm39) D121V probably benign Het
Oxnad1 A T 14: 31,813,608 (GRCm39) H3L probably benign Het
Pam C A 1: 97,904,841 (GRCm39) probably benign Het
Papolg T C 11: 23,845,207 (GRCm39) probably benign Het
Pax1 G A 2: 147,208,190 (GRCm39) G266D probably damaging Het
Pde11a A T 2: 75,906,348 (GRCm39) M623K probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Phf21a A T 2: 92,189,502 (GRCm39) Q587L probably benign Het
Plcb3 A G 19: 6,941,746 (GRCm39) L336P probably damaging Het
Pnp2 T C 14: 51,201,931 (GRCm39) *306Q probably null Het
Pou5f2 A G 13: 78,173,392 (GRCm39) I111M probably benign Het
Pramel32 T A 4: 88,547,195 (GRCm39) M246L probably damaging Het
Prmt3 G T 7: 49,467,843 (GRCm39) A350S probably benign Het
Rac3 A T 11: 120,614,343 (GRCm39) R163* probably null Het
Raly G T 2: 154,699,432 (GRCm39) V79L probably benign Het
Rbm20 A T 19: 53,839,989 (GRCm39) T993S possibly damaging Het
Rwdd3 A G 3: 120,964,987 (GRCm39) L56P probably benign Het
Serpina3a C T 12: 104,082,436 (GRCm39) H70Y possibly damaging Het
Sez6l2 A C 7: 126,552,915 (GRCm39) E227A possibly damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Sidt2 C T 9: 45,864,517 (GRCm39) V71I probably benign Het
Slc35f6 T C 5: 30,815,051 (GRCm39) L326P probably damaging Het
Sox2 G A 3: 34,705,075 (GRCm39) G171S possibly damaging Het
Spef2 G A 15: 9,729,924 (GRCm39) R65C probably damaging Het
Spmap2 A T 10: 79,420,741 (GRCm39) probably null Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Tada2a T A 11: 83,976,514 (GRCm39) I327F probably damaging Het
Tex2 A G 11: 106,435,071 (GRCm39) V785A unknown Het
Thada C A 17: 84,538,214 (GRCm39) probably null Het
Tmed1 G A 9: 21,420,550 (GRCm39) T94M possibly damaging Het
Tsr1 G T 11: 74,790,360 (GRCm39) M149I probably benign Het
Ttc8 T C 12: 98,942,761 (GRCm39) Y434H possibly damaging Het
Ttn A G 2: 76,578,519 (GRCm39) Y24125H probably damaging Het
Ttn G T 2: 76,552,253 (GRCm39) probably null Het
Ttn A G 2: 76,773,235 (GRCm39) I2435T unknown Het
Uggt2 T C 14: 119,251,938 (GRCm39) I1174M probably benign Het
Unc13b T C 4: 43,216,544 (GRCm39) I281T probably benign Het
Usp1 G T 4: 98,817,127 (GRCm39) K106N possibly damaging Het
Vwa3b A G 1: 37,174,634 (GRCm39) D15G Het
Zfp28 G A 7: 6,397,461 (GRCm39) C632Y probably damaging Het
Zfp68 T C 5: 138,604,580 (GRCm39) D581G probably benign Het
Zmynd10 A C 9: 107,424,716 (GRCm39) S21R probably benign Het
Zswim4 C T 8: 84,940,681 (GRCm39) R806H probably 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
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
U24488:Kit UTSW 5 75,783,674 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGACAGAATTCCCTTTGCAGCC -3'
(R):5'- AATAGAACTCGTGAGGCCATTG -3'

Sequencing Primer
(F):5'- CTTTGCAGCCACAAATAGCAGGG -3'
(R):5'- CATTGCTGTTGCTGCACG -3'
Posted On 2019-05-15