Incidental Mutation 'R7438:Kit'
ID 576723
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 045514-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R7438 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 75735647-75817382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75799660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 464 (V464D)
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: V464D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: V464D

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: V464D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: V464D

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (88/88)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,853,858 (GRCm39) S425G probably benign Het
Adam29 A G 8: 56,324,609 (GRCm39) I615T probably damaging Het
Arap2 A T 5: 62,906,818 (GRCm39) I67N probably damaging Het
Asxl2 C T 12: 3,477,108 (GRCm39) probably benign Het
Atp13a4 C T 16: 29,260,014 (GRCm39) G607D Het
Atp2c2 G A 8: 120,474,936 (GRCm39) V514M probably damaging Het
Baiap3 A G 17: 25,468,082 (GRCm39) C311R possibly damaging Het
Becn1 A C 11: 101,185,052 (GRCm39) S137R probably benign Het
C1qtnf6 G T 15: 78,409,574 (GRCm39) T91K probably benign Het
C8a T C 4: 104,718,626 (GRCm39) K110E probably damaging Het
Camta2 A G 11: 70,574,714 (GRCm39) probably null Het
Capn8 T A 1: 182,426,240 (GRCm39) Y192N probably damaging Het
Ccdc170 C T 10: 4,508,512 (GRCm39) Q579* probably null Het
Cenpa G T 5: 30,824,292 (GRCm39) probably benign Het
Cltc A G 11: 86,616,054 (GRCm39) V404A probably benign Het
Cyp3a11 A T 5: 145,802,710 (GRCm39) L261Q probably benign Het
Daw1 T A 1: 83,170,436 (GRCm39) S249R probably benign Het
Dchs1 T A 7: 105,404,155 (GRCm39) I2796F probably benign Het
Dis3l2 T C 1: 86,673,222 (GRCm39) probably null Het
Dnah5 A T 15: 28,347,098 (GRCm39) D2527V probably damaging Het
Dsg4 G A 18: 20,599,685 (GRCm39) R767Q probably damaging Het
Edaradd A G 13: 12,493,338 (GRCm39) I118T probably damaging Het
Fam83h A G 15: 75,876,275 (GRCm39) F354S possibly damaging Het
Fat3 A G 9: 15,899,778 (GRCm39) V3085A probably benign Het
Fer A G 17: 64,440,516 (GRCm39) D711G possibly damaging Het
G6pc1 G T 11: 101,267,503 (GRCm39) V318F probably benign Het
Gal3st1 C A 11: 3,948,227 (GRCm39) H145N probably benign Het
Helz C T 11: 107,552,856 (GRCm39) P1211S probably damaging Het
Herc1 A G 9: 66,302,038 (GRCm39) I667V probably benign Het
Herc2 T A 7: 55,753,466 (GRCm39) probably null Het
Hivep1 C T 13: 42,308,387 (GRCm39) T209I probably damaging Het
Hsph1 A G 5: 149,542,485 (GRCm39) Y678H probably damaging Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ighv1-23 T C 12: 114,728,095 (GRCm39) D109G probably damaging Het
Itgb3 T C 11: 104,534,403 (GRCm39) V420A possibly damaging Het
Kcnk13 C A 12: 100,027,985 (GRCm39) N353K probably damaging Het
Kif21a A G 15: 90,877,999 (GRCm39) F270L probably benign Het
Klhl36 G A 8: 120,596,914 (GRCm39) W205* probably null Het
Krt17 A G 11: 100,149,291 (GRCm39) Y260H probably damaging Het
Lats1 C T 10: 7,588,706 (GRCm39) Q1108* probably null Het
Lrch1 G A 14: 74,994,477 (GRCm39) T709I possibly damaging Het
Lrrc58 C A 16: 37,689,053 (GRCm39) Q66K probably benign Het
Mei1 G A 15: 81,999,682 (GRCm39) A664T Het
Mtmr6 C T 14: 60,537,753 (GRCm39) T546M probably benign Het
Ncoa3 T A 2: 165,910,449 (GRCm39) F1288L probably damaging Het
Nwd1 G T 8: 73,434,458 (GRCm39) V1352L probably benign Het
Or4k77 T A 2: 111,199,707 (GRCm39) H243Q probably damaging Het
Or5ac17 A T 16: 59,036,761 (GRCm39) C72S probably benign Het
Ovol3 C T 7: 29,934,646 (GRCm39) probably null Het
Palb2 C A 7: 121,716,554 (GRCm39) V843L probably damaging Het
Pds5a T A 5: 65,809,878 (GRCm39) probably null Het
Per1 A G 11: 68,995,561 (GRCm39) S714G possibly damaging Het
Plch2 G A 4: 155,084,917 (GRCm39) R442C probably damaging Het
Pon2 A T 6: 5,289,080 (GRCm39) S26R probably benign Het
Ppp1r9a A T 6: 5,115,378 (GRCm39) N834Y probably damaging Het
Pramel22 T C 4: 143,382,130 (GRCm39) I189V probably damaging Het
Rbm46 C T 3: 82,749,795 (GRCm39) W483* probably null Het
Rnd1 A T 15: 98,571,782 (GRCm39) V88E probably damaging Het
Sbno2 T A 10: 79,905,409 (GRCm39) T142S unknown Het
Scn9a C T 2: 66,377,531 (GRCm39) V384M possibly damaging Het
Sertad4 T A 1: 192,529,018 (GRCm39) H266L possibly damaging Het
Setd5 T A 6: 113,092,043 (GRCm39) M288K possibly damaging Het
Sfxn4 T A 19: 60,845,799 (GRCm39) N66Y probably damaging Het
Sinhcaf A G 6: 148,834,600 (GRCm39) Y10H probably benign Het
Skint6 T A 4: 113,095,425 (GRCm39) N78I probably damaging Het
Sltm G T 9: 70,480,748 (GRCm39) G200V unknown Het
Smg1 A G 7: 117,795,116 (GRCm39) I477T unknown Het
Supv3l1 C T 10: 62,266,249 (GRCm39) probably null Het
Syne2 A G 12: 76,062,337 (GRCm39) R4220G probably benign Het
Tbr1 A T 2: 61,635,161 (GRCm39) H37L possibly damaging Het
Tet3 TGGCCCAGGCCCAGGC TGGCCCAGGCCCAGGCCCAGGC 6: 83,345,211 (GRCm39) probably benign Het
Tmem231 G T 8: 112,645,040 (GRCm39) S155R probably damaging Het
Trem3 A G 17: 48,565,498 (GRCm39) *184W probably null Het
Trim33 T A 3: 103,253,956 (GRCm39) probably benign Het
Tsen2 G A 6: 115,536,943 (GRCm39) W233* probably null Het
Ttc21a T A 9: 119,774,605 (GRCm39) N286K probably damaging Het
Tulp4 A T 17: 6,248,983 (GRCm39) M194L probably benign Het
Ube3b C A 5: 114,553,345 (GRCm39) R906S possibly damaging Het
Ube3b A C 5: 114,556,687 (GRCm39) D1006A probably damaging Het
Vipas39 A T 12: 87,288,705 (GRCm39) probably null Het
Wdr35 T A 12: 9,072,785 (GRCm39) Y920N probably damaging Het
Zan T G 5: 137,423,824 (GRCm39) I2692L unknown Het
Zfp142 C A 1: 74,624,679 (GRCm39) E48D probably benign Het
Zfp598 T C 17: 24,896,504 (GRCm39) Y194H probably damaging Het
Zfp85 T C 13: 67,897,064 (GRCm39) N336S probably benign Het
Zfyve27 A T 19: 42,177,959 (GRCm39) probably null Het
Zp3 T C 5: 136,011,559 (GRCm39) S126P 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
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'- GGAAGTCCACATCCAACCTTG -3'
(R):5'- TGGTAGACAGAGCCTAAACACC -3'

Sequencing Primer
(F):5'- GTGCCTTGCTCGCTCACAG -3'
(R):5'- GAGCCTAAACACCCCTTAAATTGG -3'
Posted On 2019-10-07