Incidental Mutation 'R8290:Kit'
ID 638633
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 067712-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R8290 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 75735647-75817382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75801829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 615 (I615V)
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: I615V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: I615V

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: I611V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: I611V

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: 99.6%
  • 20x: 98.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,238,911 (GRCm39) Y1100N probably damaging Het
Abcf2 CAT CATAAT 5: 24,781,589 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,630,002 (GRCm39) T3576A probably benign Het
Adnp2 A T 18: 80,185,948 (GRCm39) N8K probably damaging Het
Aftph A T 11: 20,675,712 (GRCm39) H632Q probably benign Het
Arhgef11 A T 3: 87,633,275 (GRCm39) I710F probably damaging Het
Atp6v1c2 T C 12: 17,338,153 (GRCm39) N341S possibly damaging Het
Ccsap T G 8: 124,585,986 (GRCm39) D55A probably benign Het
Cdh17 A G 4: 11,817,037 (GRCm39) N816S probably benign Het
Celf3 A G 3: 94,386,489 (GRCm39) I26V probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Chek2 A G 5: 111,008,766 (GRCm39) E299G possibly damaging Het
Clca3a2 A G 3: 144,793,719 (GRCm39) V312A possibly damaging Het
Cnn1 A G 9: 22,012,447 (GRCm39) K25R probably benign Het
Cry1 A T 10: 84,978,977 (GRCm39) Y516* probably null Het
Dcaf4 T C 12: 83,588,333 (GRCm39) S498P probably benign Het
Dmgdh T C 13: 93,843,244 (GRCm39) V360A probably benign Het
Dnajc18 G A 18: 35,816,324 (GRCm39) R205* probably null Het
Eif4a2 G T 16: 22,927,372 (GRCm39) G22C probably damaging Het
Elmo2 A G 2: 165,150,923 (GRCm39) I196T probably damaging Het
Epha3 A G 16: 63,472,859 (GRCm39) I342T possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etf1 G A 18: 35,064,891 (GRCm39) P35L unknown Het
Etnk2 A C 1: 133,307,127 (GRCm39) *386C probably null Het
Fgg A T 3: 82,920,141 (GRCm39) I307F probably benign Het
Flg2 A G 3: 93,110,069 (GRCm39) Q699R unknown Het
Foxp4 T A 17: 48,191,778 (GRCm39) T120S unknown Het
Fzd1 A G 5: 4,807,060 (GRCm39) V174A possibly damaging Het
Gad1 A C 2: 70,404,610 (GRCm39) I167L probably benign Het
Gfm2 T A 13: 97,282,171 (GRCm39) D55E probably benign Het
Grb14 G T 2: 64,805,929 (GRCm39) A12E probably benign Het
Hnmt A C 2: 23,893,896 (GRCm39) Y199* probably null Het
Kpna6 A G 4: 129,555,097 (GRCm39) probably null Het
Lpxn C T 19: 12,810,052 (GRCm39) R275C probably damaging Het
Magi1 C T 6: 94,260,066 (GRCm39) G80S probably damaging Het
Men1 A G 19: 6,388,316 (GRCm39) I312V probably benign Het
Msx2 A G 13: 53,622,528 (GRCm39) F161L probably damaging Het
Mtr T C 13: 12,205,139 (GRCm39) D1107G probably damaging Het
Muc4 A T 16: 32,575,434 (GRCm39) M1397L probably benign Het
Mybpc3 A G 2: 90,951,473 (GRCm39) N259S probably benign Het
Myo5c A G 9: 75,196,178 (GRCm39) K1242R probably benign Het
Myoc T C 1: 162,476,601 (GRCm39) V435A possibly damaging Het
Nbea G A 3: 55,966,056 (GRCm39) Q469* probably null Het
Ndufa10 A C 1: 92,390,869 (GRCm39) M227R possibly damaging Het
Obscn C T 11: 58,953,536 (GRCm39) D3831N probably damaging Het
Obscn T C 11: 59,015,400 (GRCm39) E1024G probably damaging Het
Oma1 T C 4: 103,176,671 (GRCm39) L145P probably damaging Het
Phf11 T C 14: 59,485,418 (GRCm39) Y114C probably damaging Het
Phf12 C A 11: 77,920,465 (GRCm39) N1000K probably benign Het
Plxnb1 G T 9: 108,938,687 (GRCm39) A1350S probably benign Het
Prkd1 C T 12: 50,388,799 (GRCm39) V915I probably damaging Het
Prkra T A 2: 76,463,982 (GRCm39) N227Y probably damaging Het
Prtg A T 9: 72,798,077 (GRCm39) H681L probably damaging Het
Rtn1 T C 12: 72,355,193 (GRCm39) K251R probably benign Het
Sema6b A T 17: 56,431,803 (GRCm39) V620E possibly damaging Het
Senp7 T A 16: 55,974,000 (GRCm39) L407* probably null Het
Sh3pxd2a A T 19: 47,302,575 (GRCm39) L168Q probably damaging Het
Shtn1 A G 19: 58,988,326 (GRCm39) L453P probably damaging Het
Slc26a6 G A 9: 108,733,230 (GRCm39) R43H probably benign Het
Stac3 T C 10: 127,339,229 (GRCm39) probably null Het
Taf2 A G 15: 54,926,416 (GRCm39) F178S probably damaging Het
Tcp10a G A 17: 7,601,716 (GRCm39) E239K probably benign Het
Ubox5 A G 2: 130,442,333 (GRCm39) V118A probably damaging Het
Unc13d C A 11: 115,958,973 (GRCm39) L729F probably damaging Het
Vmn1r228 T C 17: 20,996,724 (GRCm39) T265A probably benign Het
Vmn2r100 G A 17: 19,751,612 (GRCm39) V615I probably damaging Het
Vmn2r60 T G 7: 41,791,690 (GRCm39) C538G probably damaging Het
Vmn2r93 A T 17: 18,524,291 (GRCm39) N95I probably damaging Het
Vsig2 A G 9: 37,451,264 (GRCm39) N55S probably benign Het
Zfp472 A G 17: 33,197,088 (GRCm39) T388A probably benign Het
Zfp853 G A 5: 143,274,826 (GRCm39) Q214* probably null Het
Zfp949 A G 9: 88,451,293 (GRCm39) R288G 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
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
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'- CAAACTGCACAGGAGTTGGC -3'
(R):5'- GCCTCTCTTTCTGTTAAATGGG -3'

Sequencing Primer
(F):5'- TTAGCAGAAAGAGCCCCGTAG -3'
(R):5'- CTGTTAAATGGGCACTTGCTAAAAGG -3'
Posted On 2020-07-28