Incidental Mutation 'R1480:Kit'
ID 164276
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 039533-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R1480 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 75735647-75817382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75797977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 422 (D422N)
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: D422N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: D422N

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 noncoding transcript
Transcript: ENSMUST00000136002
Predicted Effect probably benign
Transcript: ENSMUST00000144270
AA Change: D422N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: D422N

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: ENSMUST00000151357
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,323,409 (GRCm39) R126C possibly damaging Het
Abcb9 C A 5: 124,216,889 (GRCm39) A443S probably benign Het
Adcy3 A G 12: 4,262,171 (GRCm39) M1074V probably damaging Het
Adnp A G 2: 168,025,454 (GRCm39) Y614H probably damaging Het
Agbl4 G A 4: 111,423,914 (GRCm39) M313I possibly damaging Het
AI987944 T C 7: 41,024,343 (GRCm39) D212G probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Aplp1 A G 7: 30,135,448 (GRCm39) S537P probably benign Het
Arap2 T A 5: 62,826,472 (GRCm39) R1031* probably null Het
Arid1a A G 4: 133,407,700 (GRCm39) M2269T unknown Het
Ash1l C A 3: 88,892,359 (GRCm39) P1413T probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt5 A T 16: 19,588,617 (GRCm39) I279L probably damaging Het
Camkk2 T C 5: 122,872,341 (GRCm39) probably null Het
Ccdc158 T C 5: 92,796,903 (GRCm39) K478E probably damaging Het
Ces1f T C 8: 94,000,782 (GRCm39) I121V probably benign Het
Chad A T 11: 94,455,963 (GRCm39) probably benign Het
Col6a1 T C 10: 76,545,752 (GRCm39) I907V unknown Het
Cpe T A 8: 65,047,969 (GRCm39) T432S probably benign Het
Csmd3 T C 15: 47,595,325 (GRCm39) T1941A possibly damaging Het
Dennd3 G A 15: 73,404,695 (GRCm39) V257I probably benign Het
Dnajc21 T C 15: 10,460,037 (GRCm39) probably null Het
Dqx1 A G 6: 83,036,433 (GRCm39) R146G possibly damaging Het
Etf1 T C 18: 35,042,276 (GRCm39) E261G probably damaging Het
Fermt2 C T 14: 45,699,244 (GRCm39) V617I possibly damaging Het
Gabarap T C 11: 69,882,551 (GRCm39) Y5H probably damaging Het
Gdap1 A G 1: 17,215,781 (GRCm39) Y29C probably damaging Het
Gimap5 A G 6: 48,729,964 (GRCm39) E178G probably damaging Het
Gpatch1 C T 7: 35,002,763 (GRCm39) G249E probably damaging Het
Gse1 T G 8: 121,299,133 (GRCm39) probably benign Het
Kifc3 T C 8: 95,836,515 (GRCm39) D82G probably damaging Het
Klhl28 A T 12: 65,003,995 (GRCm39) F173I probably damaging Het
Klk1b22 A G 7: 43,766,278 (GRCm39) D253G possibly damaging Het
Lias T A 5: 65,549,634 (GRCm39) H39Q probably benign Het
Lrp1b T A 2: 40,793,401 (GRCm39) D2504V probably damaging Het
Mgat5 A T 1: 127,387,716 (GRCm39) R557S probably damaging Het
Mrpl54 T C 10: 81,101,489 (GRCm39) T91A probably benign Het
Myh3 T A 11: 66,984,371 (GRCm39) D1069E possibly damaging Het
Nek1 T A 8: 61,577,360 (GRCm39) probably null Het
Nfyc A C 4: 120,625,921 (GRCm39) probably null Het
Nol7 A T 13: 43,552,104 (GRCm39) E75V probably damaging Het
Nomo1 T A 7: 45,710,337 (GRCm39) V606E probably damaging Het
Npat TGGTAAAA T 9: 53,474,366 (GRCm39) probably null Het
Nt5c1b A G 12: 10,424,886 (GRCm39) E142G probably damaging Het
Ogdh A T 11: 6,297,827 (GRCm39) probably null Het
Or1o4 A G 17: 37,590,636 (GRCm39) V225A probably benign Het
Parg A T 14: 31,931,585 (GRCm39) K402* probably null Het
Patj G A 4: 98,357,819 (GRCm39) G695E probably damaging Het
Pde3a G A 6: 141,433,300 (GRCm39) S777N probably benign Het
Phactr2 G A 10: 13,129,536 (GRCm39) P174L possibly damaging Het
Phtf1 C T 3: 103,894,750 (GRCm39) R113* probably null Het
Pik3r4 G T 9: 105,564,443 (GRCm39) V1346L probably benign Het
Prkcb T C 7: 122,193,865 (GRCm39) W525R probably damaging Het
Prl8a1 C T 13: 27,758,055 (GRCm39) R218H possibly damaging Het
Pum3 T C 19: 27,376,310 (GRCm39) E536G probably benign Het
Rb1 T C 14: 73,500,042 (GRCm39) N535S probably benign Het
Rbm7 G T 9: 48,401,016 (GRCm39) D237E probably benign Het
Ripor1 T C 8: 106,342,180 (GRCm39) V122A probably damaging Het
Sdhc C T 1: 170,973,370 (GRCm39) R11H probably benign Het
Sema3c A G 5: 17,887,029 (GRCm39) N360S possibly damaging Het
Serpinb5 T A 1: 106,809,437 (GRCm39) M281K probably benign Het
Serpinc1 A G 1: 160,822,889 (GRCm39) E210G probably benign Het
Shoc2 T C 19: 53,976,202 (GRCm39) S31P probably benign Het
Sult2a3 T A 7: 13,856,836 (GRCm39) N28I possibly damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Tacc3 G A 5: 33,821,941 (GRCm39) V234I probably benign Het
Tacr1 A T 6: 82,469,511 (GRCm39) M132L possibly damaging Het
Tas2r104 C A 6: 131,662,257 (GRCm39) V151F probably benign Het
Tbc1d10b C T 7: 126,802,950 (GRCm39) S326N probably benign Het
Trim12c C T 7: 103,997,451 (GRCm39) C35Y probably damaging Het
Trrap T C 5: 144,755,123 (GRCm39) I2067T probably benign Het
Upk1a T C 7: 30,306,311 (GRCm39) I152V probably benign Het
Vmn2r39 T G 7: 9,017,955 (GRCm39) T794P probably damaging Het
Wnk2 G A 13: 49,210,708 (GRCm39) P1704S probably damaging Het
Zfp609 T C 9: 65,610,593 (GRCm39) E790G possibly damaging Het
Zmym1 G T 4: 126,942,405 (GRCm39) T563K probably damaging Het
Zranb1 T A 7: 132,551,745 (GRCm39) F132Y probably benign Het
Zranb3 C T 1: 128,019,599 (GRCm39) A48T 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
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'- ATCCTGATACCTTCAGGCCGATGG -3'
(R):5'- CCCACTGCTCACAAACGCTGTATG -3'

Sequencing Primer
(F):5'- GCTGGACAACATACCCACTG -3'
(R):5'- GGGAAATTGCTTTATCTACCTGC -3'
Posted On 2014-03-28