Incidental Mutation 'R0329:Kit'
ID 25943
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 038538-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R0329 (G1)
Quality Score 218
Status Validated
Chromosome 5
Chromosomal Location 75735647-75817382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 75813489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 888 (V888G)
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: V892G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: V892G

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: V888G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: V888G

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 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.0%
Validation Efficiency 99% (107/108)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,349,430 (GRCm39) H3668L probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adam28 T C 14: 68,855,188 (GRCm39) K651R probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arb2a T A 13: 77,910,070 (GRCm39) probably benign Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Atp8a1 T A 5: 67,969,416 (GRCm39) probably benign Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Casp12 T A 9: 5,345,534 (GRCm39) probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cdhr2 T A 13: 54,882,614 (GRCm39) probably benign Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cnnm1 C T 19: 43,430,349 (GRCm39) P489L probably damaging Het
Cntnap1 A T 11: 101,079,135 (GRCm39) D1175V probably damaging Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Crcp C A 5: 130,071,083 (GRCm39) Q61K possibly damaging Het
Crppa C T 12: 36,431,837 (GRCm39) A22V possibly damaging Het
Dcaf8 T A 1: 172,014,978 (GRCm39) D414E probably benign Het
Ddx28 T C 8: 106,736,877 (GRCm39) T394A probably benign Het
Ddx55 T C 5: 124,697,210 (GRCm39) F191L probably benign Het
Dnaaf1 T C 8: 120,322,756 (GRCm39) probably benign Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elf5 A G 2: 103,260,765 (GRCm39) probably benign Het
Emcn T A 3: 137,122,575 (GRCm39) probably benign Het
Erbb4 T C 1: 68,337,439 (GRCm39) probably benign Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Etfdh T C 3: 79,517,151 (GRCm39) I353V probably benign Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fbxl12 C T 9: 20,549,776 (GRCm39) G316D probably damaging Het
Gbf1 G A 19: 46,260,709 (GRCm39) probably null Het
Gbp2b T G 3: 142,313,937 (GRCm39) S406A probably benign Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gp1ba A G 11: 70,531,235 (GRCm39) probably benign Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Hectd4 T C 5: 121,397,927 (GRCm39) I285T probably benign Het
Hrh4 A G 18: 13,140,302 (GRCm39) probably benign Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Hspa13 A T 16: 75,562,018 (GRCm39) D60E probably damaging Het
Htt T A 5: 34,974,478 (GRCm39) probably benign Het
Iqca1l T C 5: 24,750,783 (GRCm39) probably null Het
Kif14 G C 1: 136,423,764 (GRCm39) probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrriq4 T C 3: 30,709,873 (GRCm39) S406P probably benign Het
Man2c1 T C 9: 57,048,467 (GRCm39) V777A probably benign Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myo9a C G 9: 59,830,960 (GRCm39) T2368S probably damaging Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Npm3 A G 19: 45,737,965 (GRCm39) F11L probably benign Het
Nutf2 T A 8: 106,602,995 (GRCm39) S37T probably damaging Het
Obscn T A 11: 58,931,267 (GRCm39) I5790F probably damaging Het
Obscn A T 11: 58,943,332 (GRCm39) D4833E probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7d9 T A 9: 20,197,153 (GRCm39) S61T possibly damaging Het
Or8g35 T C 9: 39,381,852 (GRCm39) T57A possibly damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcdhb1 A G 18: 37,400,077 (GRCm39) D676G possibly damaging Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Pdk1 T C 2: 71,726,018 (GRCm39) probably benign Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Pidd1 A T 7: 141,019,474 (GRCm39) probably benign Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Pot1a A G 6: 25,778,830 (GRCm39) probably benign Het
Prdm5 T C 6: 65,839,887 (GRCm39) probably benign Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pyroxd1 A G 6: 142,307,702 (GRCm39) I491V probably benign Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Slc9b1 C T 3: 135,078,996 (GRCm39) R218* probably null Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stat4 A G 1: 52,130,029 (GRCm39) probably benign Het
Steap4 T C 5: 8,025,829 (GRCm39) V130A possibly damaging Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tgm4 T C 9: 122,877,622 (GRCm39) probably null Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Tmem145 A G 7: 25,008,099 (GRCm39) probably benign Het
Tsacc A G 3: 88,190,169 (GRCm39) S94P possibly damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Ugt2b35 A G 5: 87,151,264 (GRCm39) K290R probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Usp10 T A 8: 120,663,296 (GRCm39) C39* probably null Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r7 C A 3: 64,598,439 (GRCm39) C797F probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Wdr27 A G 17: 15,154,721 (GRCm39) probably benign Het
Ythdc2 A G 18: 44,998,127 (GRCm39) probably benign Het
Zcwpw2 C A 9: 117,843,123 (GRCm39) noncoding transcript Het
Zdhhc1 C A 8: 106,210,175 (GRCm39) A81S probably benign Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q 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
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
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'- GGATGGCACCAGAGAGCATTTTCAG -3'
(R):5'- CATAGCGCGTGAGTGACATACAGAG -3'

Sequencing Primer
(F):5'- CACATTTGAAAGTGATGTCTGGTCC -3'
(R):5'- ACTGTCAAAAGCTTCGGTGC -3'
Posted On 2013-04-16