Incidental Mutation 'R1639:Kit'
ID 173363
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 039675-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R1639 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 75735647-75817382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75813467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 881 (I881V)
Ref Sequence ENSEMBL: ENSMUSP00000116465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005815] [ENSMUST00000144270]
AlphaFold P05532
Predicted Effect probably damaging
Transcript: ENSMUST00000005815
AA Change: I885V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: I885V

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: I881V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: I881V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202167
Meta Mutation Damage Score 0.1674 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 96% (66/69)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 C A 2: 155,398,828 (GRCm39) T425N probably benign Het
Adam18 T A 8: 25,142,168 (GRCm39) I203L probably benign Het
Amigo2 A G 15: 97,143,879 (GRCm39) M181T probably benign Het
Anks1 T A 17: 28,277,280 (GRCm39) I1045N probably damaging Het
Ap3d1 C T 10: 80,565,844 (GRCm39) V108I probably damaging Het
Arl8a C T 1: 135,080,561 (GRCm39) R57* probably null Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Brpf3 T C 17: 29,043,042 (GRCm39) probably null Het
C2 T C 17: 35,091,379 (GRCm39) K95E probably benign Het
Cdk19 T C 10: 40,352,965 (GRCm39) probably null Het
Cebpz T A 17: 79,242,035 (GRCm39) I540L possibly damaging Het
Cep128 A G 12: 91,333,142 (GRCm39) V41A probably damaging Het
Cog7 T C 7: 121,580,642 (GRCm39) E56G probably damaging Het
Cylc2 T C 4: 51,228,310 (GRCm39) V127A probably benign Het
Cyp2b23 A G 7: 26,385,842 (GRCm39) V5A possibly damaging Het
Cyp8b1 A G 9: 121,743,956 (GRCm39) Y459H probably benign Het
Dbpht2 A G 12: 74,345,932 (GRCm39) noncoding transcript Het
Ddx24 T C 12: 103,377,578 (GRCm39) probably null Het
Dgki C T 6: 36,914,299 (GRCm39) C757Y probably damaging Het
Eef2k T A 7: 120,485,051 (GRCm39) L306H probably damaging Het
Ephb2 T C 4: 136,421,216 (GRCm39) N378S probably benign Het
Espl1 C T 15: 102,229,149 (GRCm39) T1767I probably damaging Het
Fbn2 C A 18: 58,191,534 (GRCm39) A1530S probably benign Het
Fndc11 A G 2: 180,863,374 (GRCm39) S60G possibly damaging Het
Glb1l G T 1: 75,176,245 (GRCm39) Q612K probably benign Het
Gpsm1 A G 2: 26,235,199 (GRCm39) E371G probably damaging Het
Gtpbp2 G A 17: 46,476,697 (GRCm39) probably null Het
Itch A G 2: 155,020,945 (GRCm39) probably null Het
Itga2 T C 13: 114,993,832 (GRCm39) T774A probably benign Het
Lpar5 T C 6: 125,058,564 (GRCm39) L95P probably damaging Het
Lrp6 T C 6: 134,430,529 (GRCm39) T1511A possibly damaging Het
Mgat4c T C 10: 102,214,142 (GRCm39) Y42H probably damaging Het
Mpp3 G T 11: 101,914,268 (GRCm39) T109K probably damaging Het
Msantd4 A G 9: 4,385,199 (GRCm39) E308G probably damaging Het
Mug1 T C 6: 121,857,530 (GRCm39) S1085P probably damaging Het
Myo5b A G 18: 74,840,987 (GRCm39) H956R probably benign Het
Ncoa7 A C 10: 30,577,988 (GRCm39) L132R probably damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Or4a81 T C 2: 89,619,589 (GRCm39) T36A probably damaging Het
Pkhd1l1 G A 15: 44,404,351 (GRCm39) V2327M probably damaging Het
Ppp1r9b T C 11: 94,887,436 (GRCm39) Y59H probably damaging Het
Sema4c A T 1: 36,592,615 (GRCm39) F152I probably benign Het
Slit2 A T 5: 48,416,996 (GRCm39) Y1016F probably damaging Het
Spata31d1c T A 13: 65,183,853 (GRCm39) V465D probably benign Het
Ssc5d T C 7: 4,931,416 (GRCm39) C208R probably damaging Het
Stambpl1 T G 19: 34,213,707 (GRCm39) V312G probably benign Het
Stim1 T A 7: 102,003,748 (GRCm39) D60E probably benign Het
Syt13 T A 2: 92,776,316 (GRCm39) V201D probably benign Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tex15 T C 8: 34,060,845 (GRCm39) S366P possibly damaging Het
Tex56 T C 13: 35,128,233 (GRCm39) I150T possibly damaging Het
Tpte G A 8: 22,810,913 (GRCm39) R190H probably benign Het
Vmn1r4 T C 6: 56,934,060 (GRCm39) V188A probably damaging Het
Vmn2r88 A G 14: 51,654,244 (GRCm39) D542G probably damaging Het
Vps33b T A 7: 79,934,101 (GRCm39) I257N probably damaging Het
Wwox G T 8: 115,172,118 (GRCm39) G71* probably null Het
Zc3h11a G T 1: 133,552,446 (GRCm39) Q554K probably benign Het
Zfp947 T C 17: 22,365,074 (GRCm39) K200R probably benign Het
Zscan12 T A 13: 21,553,156 (GRCm39) C327S 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
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
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'- TGGCACCAGAGAGCATTTTCAGC -3'
(R):5'- GAACCACAGCCATGACATTTGAGC -3'

Sequencing Primer
(F):5'- CACATTTGAAAGTGATGTCTGGTCC -3'
(R):5'- CATGACATTTGAGCGCGGG -3'
Posted On 2014-04-24