Incidental Mutation 'R7021:Kit'
ID 545616
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 045122-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R7021 (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 C at 75781627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 352 (I352T)
Ref Sequence ENSEMBL: ENSMUSP00000116465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005815] [ENSMUST00000144270]
AlphaFold P05532
Predicted Effect probably benign
Transcript: ENSMUST00000005815
AA Change: I352T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: I352T

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: I352T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: I352T

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
Meta Mutation Damage Score 0.1314 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (75/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,442,062 (GRCm39) L63R probably damaging Het
Abcb5 C T 12: 118,895,660 (GRCm39) V379I probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ahsa1 T C 12: 87,318,154 (GRCm39) S37P possibly damaging Het
Arnt2 A T 7: 83,993,150 (GRCm39) L130H probably damaging Het
Atp8b5 T A 4: 43,355,618 (GRCm39) F533I probably damaging Het
Best1 A G 19: 9,964,143 (GRCm39) V439A probably benign Het
Bicc1 A G 10: 70,796,978 (GRCm39) V127A probably damaging Het
Brd7 T C 8: 89,073,632 (GRCm39) T253A probably benign Het
Btd A G 14: 31,389,788 (GRCm39) D503G probably benign Het
Ccdc80 A G 16: 44,924,804 (GRCm39) E646G probably damaging Het
Ccl25 A G 8: 4,399,641 (GRCm39) probably benign Het
Ccnf C A 17: 24,461,205 (GRCm39) W150L probably damaging Het
Cdk11b A T 4: 155,726,024 (GRCm39) probably benign Het
Cfap73 T C 5: 120,768,149 (GRCm39) E203G probably benign Het
Cmya5 T C 13: 93,230,063 (GRCm39) E1675G possibly damaging Het
Copg1 T A 6: 87,871,087 (GRCm39) Y268N possibly damaging Het
Csnk2a1 T A 2: 152,102,732 (GRCm39) H126Q probably damaging Het
Ctbs G A 3: 146,160,703 (GRCm39) G90D probably damaging Het
Ctnna2 T C 6: 77,613,888 (GRCm39) Y221C probably damaging Het
Cypt12 C T 3: 18,002,635 (GRCm39) R3C unknown Het
D630003M21Rik A T 2: 158,058,670 (GRCm39) M410K possibly damaging Het
Dnah9 A T 11: 65,872,057 (GRCm39) N2724K probably benign Het
Dok3 T C 13: 55,672,097 (GRCm39) T194A probably benign Het
Edem3 T G 1: 151,631,423 (GRCm39) S36A probably benign Het
Eed C T 7: 89,629,727 (GRCm39) E3K possibly damaging Het
Efcab2 A G 1: 178,308,925 (GRCm39) I143V probably benign Het
Ensa A T 3: 95,534,359 (GRCm39) probably null Het
Galnt16 A T 12: 80,626,826 (GRCm39) E219V probably damaging Het
Gfra3 C A 18: 34,823,933 (GRCm39) R347L probably benign Het
Gm2042 T A 12: 87,927,009 (GRCm39) I442K probably damaging Het
Gpld1 A T 13: 25,168,691 (GRCm39) D735V probably damaging Het
Hspg2 T C 4: 137,269,580 (GRCm39) S2253P possibly damaging Het
Klra6 A T 6: 129,995,821 (GRCm39) V179E possibly damaging Het
Lctl T A 9: 64,040,075 (GRCm39) probably null Het
Lman1 C A 18: 66,124,714 (GRCm39) V342L probably benign Het
Lrrn2 T C 1: 132,866,522 (GRCm39) L529P probably damaging Het
Mab21l2 A G 3: 86,454,793 (GRCm39) I69T probably benign Het
Mapkapk5 G T 5: 121,665,274 (GRCm39) A327E probably benign Het
Mex3b G T 7: 82,519,080 (GRCm39) R465L possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mgat4c A G 10: 102,224,289 (GRCm39) R168G possibly damaging Het
Mkks A G 2: 136,718,007 (GRCm39) probably null Het
Muc16 G T 9: 18,466,215 (GRCm39) H7368N unknown Het
Muc16 T C 9: 18,462,127 (GRCm39) probably null Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Notch2 T C 3: 98,042,762 (GRCm39) S1376P probably benign Het
Obox5 A G 7: 15,491,681 (GRCm39) probably null Het
Or10j5 T C 1: 172,784,494 (GRCm39) I44T probably benign Het
Or6c8b A T 10: 128,882,899 (GRCm39) I11N probably damaging Het
Pbrm1 A G 14: 30,789,773 (GRCm39) I807V probably damaging Het
Pitrm1 T A 13: 6,628,593 (GRCm39) V962E probably damaging Het
Pkd2l1 T C 19: 44,142,647 (GRCm39) Q465R probably damaging Het
Pla1a A G 16: 38,221,244 (GRCm39) I372T probably damaging Het
Prmt5 A C 14: 54,752,845 (GRCm39) F122C probably damaging Het
Prrc2b T A 2: 32,111,498 (GRCm39) S1905T probably damaging Het
Ptprf T G 4: 118,081,101 (GRCm39) K1163N probably benign Het
Rab3ip A G 10: 116,775,283 (GRCm39) V25A probably damaging Het
Raf1 T C 6: 115,597,300 (GRCm39) probably null Het
Rnf180 T C 13: 105,407,429 (GRCm39) E40G probably benign Het
Rpl6 T A 5: 121,346,972 (GRCm39) M289K probably benign Het
Slc25a32 A G 15: 38,963,321 (GRCm39) F167L probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc4a4 T A 5: 89,188,205 (GRCm39) probably null Het
Sppl2a A G 2: 126,769,663 (GRCm39) probably null Het
Tbr1 T A 2: 61,637,688 (GRCm39) D82E probably benign Het
Tbx10 A T 19: 4,048,961 (GRCm39) T291S probably benign Het
Tlr1 T A 5: 65,083,056 (GRCm39) H507L possibly damaging Het
Trim37 A C 11: 87,058,335 (GRCm39) T338P probably benign Het
Trpv5 T C 6: 41,630,204 (GRCm39) T629A probably benign Het
Ttc14 T A 3: 33,857,646 (GRCm39) I249N probably damaging Het
Uhrf1 A G 17: 56,627,450 (GRCm39) T661A probably benign Het
Vmn2r65 A G 7: 84,596,587 (GRCm39) I156T probably benign Het
Vwde T C 6: 13,186,905 (GRCm39) N861D probably damaging Het
Zan A G 5: 137,422,213 (GRCm39) C2802R unknown 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
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
U24488:Kit UTSW 5 75,783,674 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTCAACACTGGAAGCCGTC -3'
(R):5'- AGATGTCCTTCCTCAATGTGG -3'

Sequencing Primer
(F):5'- ACACTGGAAGCCGTCATTTG -3'
(R):5'- GGCATCTTCCCACTCATTGCTG -3'
Posted On 2019-05-13