Incidental Mutation 'R7531:Kit'
ID 583306
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 045603-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R7531 (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 75767700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 28 (S28P)
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 damaging
Transcript: ENSMUST00000005815
AA Change: S28P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: S28P

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 damaging
Transcript: ENSMUST00000144270
AA Change: S28P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: S28P

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: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,286,332 (GRCm39) T2501S probably damaging Het
Abcg3 A G 5: 105,125,507 (GRCm39) Y59H probably benign Het
Acsf2 G T 11: 94,464,057 (GRCm39) probably null Het
Adam25 T A 8: 41,206,914 (GRCm39) I60K probably damaging Het
Agrn A T 4: 156,254,261 (GRCm39) V1729E probably damaging Het
Aldh9a1 G A 1: 167,177,895 (GRCm39) V31I probably benign Het
Aqp5 T C 15: 99,489,180 (GRCm39) F10L possibly damaging Het
Arfgap2 T A 2: 91,104,089 (GRCm39) probably null Het
Asb7 T C 7: 66,328,884 (GRCm39) H52R probably damaging Het
Aspa G A 11: 73,204,351 (GRCm39) Q206* probably null Het
Bpgm A G 6: 34,481,223 (GRCm39) I207V possibly damaging Het
Brinp2 A G 1: 158,094,142 (GRCm39) S187P possibly damaging Het
Clec4e A G 6: 123,262,533 (GRCm39) F128S probably benign Het
Crisp3 A G 17: 40,545,629 (GRCm39) F82L probably benign Het
Cry2 A G 2: 92,243,350 (GRCm39) L497P probably damaging Het
Dcxr A G 11: 120,617,832 (GRCm39) V48A probably benign Het
Ddx11 A T 17: 66,445,214 (GRCm39) T379S probably benign Het
Depdc1a A C 3: 159,228,276 (GRCm39) T343P probably damaging Het
Dhx36 T C 3: 62,392,389 (GRCm39) I546V probably damaging Het
Fam114a2 A G 11: 57,404,542 (GRCm39) V74A probably benign Het
Fcgbpl1 T C 7: 27,839,656 (GRCm39) F490L probably benign Het
Flg2 A T 3: 93,108,177 (GRCm39) R68S probably damaging Het
Glb1l3 T C 9: 26,764,950 (GRCm39) I154V possibly damaging Het
Gm45844 T C 7: 7,243,185 (GRCm39) T22A probably benign Het
Gramd2a A T 9: 59,617,193 (GRCm39) I83F probably damaging Het
Hcn4 A G 9: 58,767,420 (GRCm39) T994A unknown Het
Hectd1 C T 12: 51,853,150 (GRCm39) V124I probably benign Het
Hmcn1 A T 1: 150,562,531 (GRCm39) D2342E probably benign Het
Hyal6 A T 6: 24,740,786 (GRCm39) H313L possibly damaging Het
Ifnab T A 4: 88,609,523 (GRCm39) probably benign Het
Keap1 A G 9: 21,148,623 (GRCm39) I128T probably benign Het
Krtap5-3 T A 7: 141,755,942 (GRCm39) C260S unknown Het
Lepr T A 4: 101,609,372 (GRCm39) W320R probably damaging Het
Lmod3 A T 6: 97,225,403 (GRCm39) N139K probably benign Het
Marchf1 C G 8: 66,838,989 (GRCm39) S10R probably benign Het
Naa35 A T 13: 59,765,755 (GRCm39) K380* probably null Het
Npy1r C A 8: 67,157,546 (GRCm39) F285L probably damaging Het
Nr1h3 C T 2: 91,014,739 (GRCm39) R427H probably damaging Het
Or5p79 T A 7: 108,221,269 (GRCm39) N83K probably benign Het
Pate2 A G 9: 35,582,008 (GRCm39) probably null Het
Pcmt1 A G 10: 7,556,369 (GRCm39) probably null Het
Prg4 T G 1: 150,330,786 (GRCm39) E629A unknown Het
Rin2 T G 2: 145,700,419 (GRCm39) S199A probably benign Het
Ror1 T A 4: 100,298,388 (GRCm39) L587Q probably damaging Het
Rsl1 T A 13: 67,324,566 (GRCm39) C31S possibly damaging Het
Scn4a A G 11: 106,239,523 (GRCm39) probably null Het
Sema3a T C 5: 13,615,805 (GRCm39) Y410H probably damaging Het
Smpd5 T C 15: 76,180,539 (GRCm39) V447A probably benign Het
Tax1bp1 A T 6: 52,723,682 (GRCm39) D524V probably benign Het
Tesc A T 5: 118,197,523 (GRCm39) Y179F probably damaging Het
Tm9sf2 T C 14: 122,379,824 (GRCm39) S292P possibly damaging Het
Unc45b A G 11: 82,819,838 (GRCm39) D543G probably damaging Het
Usp4 T A 9: 108,249,879 (GRCm39) V469E probably damaging Het
Vmn1r10 T A 6: 57,090,924 (GRCm39) I172N possibly damaging Het
Zfyve16 A G 13: 92,659,473 (GRCm39) L146S 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
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'- CCATAGGACTAATTGAAGGCTGC -3'
(R):5'- CATTGCTGTTGCTGCACGTG -3'

Sequencing Primer
(F):5'- CTAATTGAAGGCTGCAGAAAATAAC -3'
(R):5'- ACGTGTATGTGCCCGTGC -3'
Posted On 2019-10-17