Incidental Mutation 'IGL02281:Kit'
ID289829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kit
Ensembl Gene ENSMUSG00000005672
Gene NameKIT proto-oncogene receptor tyrosine kinase
SynonymsSCO5, Dominant white spotting, Tr-kit, belly-spot, CD117, Gsfsow3, Gsfsco5, SOW3, SCO1, Steel Factor Receptor, c-KIT, Gsfsco1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.849) question?
Stock #IGL02281
Quality Score
Status
Chromosome5
Chromosomal Location75574916-75656722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 75654534 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 973 (E973K)
Ref Sequence ENSEMBL: ENSMUSP00000116465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005815] [ENSMUST00000144270]
Predicted Effect probably benign
Transcript: ENSMUST00000005815
AA Change: E977K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: E977K

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: E973K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: E973K

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
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 105,567,154 E60G probably benign Het
Aldh3a1 T G 11: 61,217,123 M331R probably damaging Het
Bach2 T C 4: 32,562,513 C327R possibly damaging Het
Bcam C T 7: 19,758,691 G523D probably damaging Het
Bmpr2 T A 1: 59,868,344 D865E probably damaging Het
Calm1 A T 12: 100,205,624 I112F probably damaging Het
Ceacam3 T C 7: 17,161,731 V542A probably benign Het
Clec5a A T 6: 40,584,402 D36E probably benign Het
Clspn T A 4: 126,565,770 C321S possibly damaging Het
Cmtr1 T A 17: 29,691,281 D453E probably benign Het
Cntnap1 T A 11: 101,182,254 D561E possibly damaging Het
Cul5 A G 9: 53,635,049 V137A possibly damaging Het
Cyp2b9 A G 7: 26,201,104 Y389C probably damaging Het
Ddi2 A G 4: 141,692,419 V340A probably benign Het
Etv4 T C 11: 101,773,719 Y236C probably damaging Het
Gm3099 G A 14: 4,001,257 probably benign Het
Gpsm1 T A 2: 26,339,626 probably benign Het
Idh2 A G 7: 80,095,802 I392T probably benign Het
Lilra5 A G 7: 4,238,783 I194V probably benign Het
Lrp6 A C 6: 134,457,734 N1335K probably benign Het
Map9 G A 3: 82,391,146 E613K possibly damaging Het
Mroh2b G A 15: 4,952,263 A1519T probably benign Het
Nefm A G 14: 68,124,464 V117A probably damaging Het
Nr2c2 T A 6: 92,154,514 S186T probably benign Het
Pde2a G A 7: 101,481,392 A80T probably benign Het
Plcd1 A T 9: 119,074,773 C334S probably benign Het
Pomt1 T C 2: 32,248,646 S425P possibly damaging Het
Pspc1 G T 14: 56,723,178 P497T probably benign Het
Rnf123 G A 9: 108,071,452 P58L probably benign Het
Rph3a T C 5: 120,948,833 T435A probably damaging Het
Rsbn1 T C 3: 103,962,461 L746P probably damaging Het
Sfrp2 A G 3: 83,773,139 E202G possibly damaging Het
Slc25a38 T C 9: 120,117,532 S111P probably damaging Het
Tfcp2l1 T C 1: 118,669,380 probably benign Het
Tonsl A T 15: 76,634,074 L566H probably damaging Het
Tsc1 C A 2: 28,663,595 D153E probably damaging Het
Vmn2r37 A T 7: 9,217,882 H327Q possibly damaging Het
Other mutations in Kit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Kit APN 5 75610819 missense probably benign 0.00
IGL00834:Kit APN 5 75645959 missense probably damaging 1.00
IGL00846:Kit APN 5 75640811 missense probably damaging 0.98
IGL01149:Kit APN 5 75610876 missense probably damaging 0.97
IGL01341:Kit APN 5 75607074 missense probably damaging 1.00
IGL02004:Kit APN 5 75621014 missense probably benign
IGL02424:Kit APN 5 75639106 missense probably benign
IGL02697:Kit APN 5 75607259 missense probably benign
IGL02929:Kit APN 5 75640769 missense probably damaging 1.00
IGL03053:Kit APN 5 75610914 missense probably benign
IGL03127:Kit APN 5 75641188 missense probably benign 0.44
IGL03174:Kit APN 5 75607113 missense probably benign
IGL03381:Kit APN 5 75607128 missense probably benign 0.04
Casper UTSW 5 75645875 missense probably damaging 1.00
pretty2 UTSW 5 75649550 missense probably damaging 1.00
IGL02837:Kit UTSW 5 75639008 missense probably benign 0.00
R0022:Kit UTSW 5 75622997 missense probably benign 0.00
R0022:Kit UTSW 5 75622997 missense probably benign 0.00
R0092:Kit UTSW 5 75647754 missense possibly damaging 0.93
R0254:Kit UTSW 5 75620921 missense probably benign
R0329:Kit UTSW 5 75652829 missense probably damaging 1.00
R0609:Kit UTSW 5 75610879 missense probably benign 0.35
R1068:Kit UTSW 5 75609518 missense probably benign
R1115:Kit UTSW 5 75649532 splice site probably benign
R1480:Kit UTSW 5 75637317 missense probably benign 0.00
R1639:Kit UTSW 5 75652807 missense probably damaging 1.00
R1801:Kit UTSW 5 75648393 missense probably damaging 1.00
R1973:Kit UTSW 5 75615442 missense probably damaging 1.00
R2033:Kit UTSW 5 75637317 missense possibly damaging 0.88
R3125:Kit UTSW 5 75647827 missense probably benign 0.07
R3125:Kit UTSW 5 75647828 missense probably benign 0.00
R3437:Kit UTSW 5 75645905 missense probably damaging 1.00
R3791:Kit UTSW 5 75639150 missense probably damaging 1.00
R3939:Kit UTSW 5 75609318 missense probably benign 0.00
R3940:Kit UTSW 5 75609318 missense probably benign 0.00
R3941:Kit UTSW 5 75609318 missense probably benign 0.00
R3942:Kit UTSW 5 75609318 missense probably benign 0.00
R4092:Kit UTSW 5 75610810 missense probably benign 0.28
R4376:Kit UTSW 5 75640499 missense probably benign 0.00
R4377:Kit UTSW 5 75640499 missense probably benign 0.00
R4668:Kit UTSW 5 75641220 splice site probably benign
R5104:Kit UTSW 5 75615478 missense probably benign 0.00
R5152:Kit UTSW 5 75620847 missense probably benign 0.00
R5154:Kit UTSW 5 75640540 missense probably damaging 0.99
R5508:Kit UTSW 5 75649548 missense probably damaging 1.00
R5624:Kit UTSW 5 75609394 missense probably benign 0.40
R5731:Kit UTSW 5 75654415 missense possibly damaging 0.93
R6270:Kit UTSW 5 75609509 missense probably benign
R6565:Kit UTSW 5 75645853 missense probably damaging 1.00
R6694:Kit UTSW 5 75640757 missense possibly damaging 0.94
U24488:Kit UTSW 5 75623014 nonsense probably null
Posted OnApr 16, 2015