Incidental Mutation 'R8832:Kit'
ID 673901
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 068660-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R8832 (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 G at 75799791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 508 (N508D)
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 benign
Transcript: ENSMUST00000005815
AA Change: N508D

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: N508D

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 possibly damaging
Transcript: ENSMUST00000144270
AA Change: N508D

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: N508D

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: 98.5%
Validation Efficiency 99% (81/82)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,100,341 (GRCm39) E238V probably damaging Het
Adh6b T C 3: 138,055,463 (GRCm39) V71A probably benign Het
Agmat G A 4: 141,474,320 (GRCm39) R67H probably benign Het
AI182371 T C 2: 34,985,909 (GRCm39) D49G unknown Het
Ak7 A G 12: 105,708,598 (GRCm39) N351S possibly damaging Het
Aldh3b1 G T 19: 3,964,025 (GRCm39) R426S probably damaging Het
Aldh4a1 A G 4: 139,371,466 (GRCm39) D460G probably benign Het
Aox4 A T 1: 58,294,649 (GRCm39) M953L probably benign Het
Arhgap32 C T 9: 32,172,115 (GRCm39) P1632S possibly damaging Het
Armh1 A G 4: 117,094,867 (GRCm39) F58L probably damaging Het
Baz1b C T 5: 135,246,230 (GRCm39) R560W possibly damaging Het
Bbs10 C T 10: 111,136,266 (GRCm39) Q460* probably null Het
BC034090 A C 1: 155,102,034 (GRCm39) S77A probably damaging Het
Bltp2 A G 11: 78,158,064 (GRCm39) K409E probably benign Het
Brca2 A G 5: 150,465,611 (GRCm39) K1792E possibly damaging Het
Cadps2 A T 6: 23,587,536 (GRCm39) L318Q possibly damaging Het
Catsperg2 A G 7: 29,397,269 (GRCm39) V1078A probably benign Het
Ccno A G 13: 113,126,239 (GRCm39) N236S probably benign Het
Chct1 A G 11: 85,062,037 (GRCm39) D12G probably damaging Het
Cobll1 A T 2: 64,929,602 (GRCm39) S575T probably damaging Het
Col6a4 A G 9: 105,949,353 (GRCm39) Y761H probably benign Het
Cyp2j9 G T 4: 96,474,121 (GRCm39) H106Q probably benign Het
Dennd2c T A 3: 103,059,720 (GRCm39) probably null Het
Drd5 G A 5: 38,477,078 (GRCm39) V24M probably benign Het
Dthd1 T C 5: 62,971,608 (GRCm39) S144P probably benign Het
Fcna C A 2: 25,516,145 (GRCm39) R124L possibly damaging Het
Fmnl2 A G 2: 52,944,584 (GRCm39) S188G Het
Ggt1 A T 10: 75,410,173 (GRCm39) H35L possibly damaging Het
Gphn A T 12: 78,459,174 (GRCm39) silent Het
Hic1 G A 11: 75,057,728 (GRCm39) A387V possibly damaging Het
Hycc2 A T 1: 58,587,832 (GRCm39) I127N possibly damaging Het
Igf1r T A 7: 67,875,769 (GRCm39) F1244I probably damaging Het
Kcnk7 T C 19: 5,754,736 (GRCm39) V78A probably damaging Het
Klk1b22 A T 7: 43,764,277 (GRCm39) E68D probably benign Het
Klra4 C T 6: 130,021,019 (GRCm39) D259N probably benign Het
Krtap2-4 A T 11: 99,505,246 (GRCm39) C122S unknown Het
Map3k1 T G 13: 111,889,015 (GRCm39) H1314P possibly damaging Het
Mast2 C T 4: 116,168,875 (GRCm39) probably null Het
Mfsd2a A G 4: 122,843,102 (GRCm39) V393A probably benign Het
Myh7b T A 2: 155,475,182 (GRCm39) V1858E probably benign Het
Myo1c G A 11: 75,561,072 (GRCm39) V793I probably benign Het
Myt1l T A 12: 29,970,351 (GRCm39) N1145K unknown Het
Nckap1l T A 15: 103,387,242 (GRCm39) S706T probably benign Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Odf2l C T 3: 144,833,820 (GRCm39) S160L probably benign Het
Or10ag54 T A 2: 87,099,743 (GRCm39) M206K probably benign Het
Or2av9 T C 11: 58,381,063 (GRCm39) I173V possibly damaging Het
Or4p18 A G 2: 88,233,137 (GRCm39) I47T probably damaging Het
Or56b34 T C 7: 104,937,435 (GRCm39) L45P possibly damaging Het
Or8g53 T C 9: 39,683,886 (GRCm39) D70G probably damaging Het
Pclo T C 5: 14,838,464 (GRCm39) W1424R Het
Pde8a A G 7: 80,956,498 (GRCm39) N299S probably benign Het
Pi4kb C T 3: 94,900,344 (GRCm39) T326M probably damaging Het
Pip4k2c A T 10: 127,037,037 (GRCm39) H177Q probably damaging Het
Pld1 T A 3: 28,177,846 (GRCm39) W686R Het
Ppp1r3b A T 8: 35,851,419 (GRCm39) D86V probably damaging Het
Ppp1r3g C T 13: 36,153,143 (GRCm39) R188* probably null Het
Pramel48 G T 5: 95,630,939 (GRCm39) C272F possibly damaging Het
Ptbp1 A G 10: 79,699,023 (GRCm39) E527G probably damaging Het
Rasef T C 4: 73,698,558 (GRCm39) probably benign Het
Rce1 A T 19: 4,675,532 (GRCm39) C34S unknown Het
Rnf144a T C 12: 26,370,948 (GRCm39) probably benign Het
Rpl7 C T 1: 16,173,485 (GRCm39) R88H possibly damaging Het
Rubcnl A T 14: 75,269,359 (GRCm39) T6S Het
Samd9l A T 6: 3,374,990 (GRCm39) V757D probably damaging Het
Sec22c A G 9: 121,514,638 (GRCm39) V221A probably benign Het
Slc16a6 A G 11: 109,345,932 (GRCm39) Y444H probably benign Het
Slc6a15 A T 10: 103,225,179 (GRCm39) Y89F probably damaging Het
Smg1 A G 7: 117,739,006 (GRCm39) V3466A probably benign Het
Sobp G A 10: 43,036,824 (GRCm39) T38I probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Srsf5 T A 12: 80,996,278 (GRCm39) F151I probably damaging Het
Taf2 A C 15: 54,928,001 (GRCm39) L134R possibly damaging Het
Tbc1d1 A G 5: 64,442,020 (GRCm39) probably benign Het
Thap1 C T 8: 26,648,261 (GRCm39) probably benign Het
Tmc5 A T 7: 118,222,332 (GRCm39) M11L probably benign Het
Tnfaip8 ACACACTCTCTCTCTC AC 18: 50,179,908 (GRCm39) probably benign Het
Tomm7 T C 5: 24,049,047 (GRCm39) K9E possibly damaging Het
Trem3 T C 17: 48,556,865 (GRCm39) V112A probably benign Het
Vmn1r178 G A 7: 23,593,264 (GRCm39) C104Y probably damaging Het
Zdhhc20 A T 14: 58,080,721 (GRCm39) S263T possibly damaging Het
Zdhhc20 A G 14: 58,103,089 (GRCm39) S87P probably benign Het
Zfp423 C A 8: 88,507,827 (GRCm39) C839F 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
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
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'- GCTGCAGGCTTCTATTTGGC -3'
(R):5'- CATCAGCAGACTAGTATGGGATGAG -3'

Sequencing Primer
(F):5'- GCAGGCTTCTATTTGGCTTACC -3'
(R):5'- AGACTAGTATGGGATGAGTTTGTGAC -3'
Posted On 2021-07-15