Incidental Mutation 'R6848:Kit'
ID 534851
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 045022-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R6848 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 75735647-75817382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75767872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 85 (Q85L)
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: Q85L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: Q85L

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: Q85L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: Q85L

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: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (54/55)
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
Acap1 T C 11: 69,775,487 (GRCm39) N290S probably damaging Het
Acox3 G T 5: 35,749,528 (GRCm39) G218C probably damaging Het
Acsf3 G A 8: 123,517,329 (GRCm39) G375D probably damaging Het
Adamts9 G T 6: 92,840,335 (GRCm39) N568K possibly damaging Het
Akr1cl G A 1: 65,063,928 (GRCm39) T87I probably damaging Het
Brcc3dc A T 10: 108,535,451 (GRCm39) V168E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Casp16 A T 17: 23,770,053 (GRCm39) C175* probably null Het
Cast T C 13: 74,844,052 (GRCm39) K694R possibly damaging Het
Cep70 G A 9: 99,144,954 (GRCm39) R100H probably benign Het
Cep72 C T 13: 74,186,395 (GRCm39) A259T possibly damaging Het
Chsy1 T A 7: 65,820,785 (GRCm39) M340K probably damaging Het
Col27a1 T C 4: 63,220,608 (GRCm39) S182P probably benign Het
Crlf2 A C 5: 109,704,897 (GRCm39) F103V possibly damaging Het
Dync2h1 T C 9: 7,159,632 (GRCm39) N652S probably benign Het
Ephx4 G A 5: 107,574,784 (GRCm39) G274D probably damaging Het
Fer T A 17: 64,298,601 (GRCm39) F517I probably damaging Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gata3 T A 2: 9,863,339 (GRCm39) N392Y possibly damaging Het
Gria4 C T 9: 4,793,822 (GRCm39) V79M probably damaging Het
Grk3 A C 5: 113,133,641 (GRCm39) N60K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igf1r T G 7: 67,653,927 (GRCm39) I155R probably damaging Het
Igsf9 T C 1: 172,323,329 (GRCm39) L681P probably damaging Het
Intu T C 3: 40,648,685 (GRCm39) M789T probably benign Het
Klhdc2 T A 12: 69,355,750 (GRCm39) C325* probably null Het
Mcidas A G 13: 113,130,419 (GRCm39) E5G probably benign Het
Mcm5 G T 8: 75,853,918 (GRCm39) R724L possibly damaging Het
Nrbp2 G A 15: 75,963,332 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,084 (GRCm39) I655T probably damaging Het
Nsun4 T C 4: 115,910,131 (GRCm39) D143G possibly damaging Het
Opn3 C T 1: 175,490,615 (GRCm39) V349M probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or5d47 A T 2: 87,804,514 (GRCm39) V165E possibly damaging Het
Or6d14 T C 6: 116,533,736 (GRCm39) S117P probably damaging Het
Pank2 C A 2: 131,124,546 (GRCm39) L297I probably damaging Het
Pcdh20 T A 14: 88,704,690 (GRCm39) E870V probably benign Het
Pdcd6 T A 13: 74,457,959 (GRCm39) M71L possibly damaging Het
Phkb A T 8: 86,756,246 (GRCm39) I847F probably damaging Het
Psmb1 A G 17: 15,697,509 (GRCm39) F202S probably benign Het
Pwp2 C G 10: 78,020,127 (GRCm39) probably null Het
Rbms3 A G 9: 117,080,809 (GRCm39) Y21H probably damaging Het
Rhbdl1 T A 17: 26,055,158 (GRCm39) K17* probably null Het
Rp1l1 C A 14: 64,265,667 (GRCm39) Q418K possibly damaging Het
Scpppq1 A G 5: 104,222,603 (GRCm39) probably benign Het
Slc22a4 A T 11: 53,898,615 (GRCm39) V159E possibly damaging Het
Spata31d1a T C 13: 59,849,777 (GRCm39) T784A possibly damaging Het
Tll1 A G 8: 64,551,544 (GRCm39) M279T probably damaging Het
Tmem163 A T 1: 127,479,117 (GRCm39) V134D probably damaging Het
Top2b A G 14: 16,409,958 (GRCm38) N875S possibly damaging Het
Tpd52l1 T C 10: 31,208,853 (GRCm39) E205G probably benign Het
Tpsb2 T A 17: 25,586,802 (GRCm39) Y271* probably null Het
Ugt3a1 G A 15: 9,280,138 (GRCm39) probably null Het
Vmn2r67 T C 7: 84,801,840 (GRCm39) M154V probably benign Het
Zfp740 T G 15: 102,117,243 (GRCm39) I89S probably benign 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
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
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'- TTACTTCGCCAAGACAGCTC -3'
(R):5'- CCAAATCCTGCCTGTGGTTTG -3'

Sequencing Primer
(F):5'- CGTCTCAGCCATCTGCAAG -3'
(R):5'- GCCTGTGGTTTGGTCACCTC -3'
Posted On 2018-09-12