Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02424:Kit'

292841

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL02424

Quality Score

Status

Chromosome

Chromosomal Location

75735647-75817382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75799766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 499 (D499E)

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: D499E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: D499E

Domain	Start	End	E-Value	Type
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: D499E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: D499E

Domain	Start	End	E-Value	Type
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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 137,880,466 (GRCm39)		probably benign	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abl1	G	A	2: 31,691,144 (GRCm39)	V888I	probably benign	Het
Adcy9	G	T	16: 4,106,461 (GRCm39)	N884K	probably damaging	Het
Alyref	T	C	11: 120,486,133 (GRCm39)	N176D	probably benign	Het
Amtn	T	C	5: 88,529,456 (GRCm39)		probably benign	Het
Baz1b	T	C	5: 135,246,833 (GRCm39)	Y761H	probably damaging	Het
Cckar	T	A	5: 53,863,770 (GRCm39)	T64S	possibly damaging	Het
Csmd1	A	G	8: 16,142,340 (GRCm39)	F1521S	probably benign	Het
Cyp11b1	T	C	15: 74,711,085 (GRCm39)	T198A	probably benign	Het
Def8	G	T	8: 124,186,387 (GRCm39)	L399F	possibly damaging	Het
Epha7	A	T	4: 28,948,790 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,665,589 (GRCm39)	Y181*	probably null	Het
Fas	A	T	19: 34,304,434 (GRCm39)	M232L	probably damaging	Het
Fkbp10	T	A	11: 100,306,782 (GRCm39)	V37E	probably damaging	Het
Galnt3	A	G	2: 65,926,132 (GRCm39)		probably null	Het
Gdap1	T	C	1: 17,231,402 (GRCm39)	V249A	probably damaging	Het
Gm5356	T	A	8: 89,913,594 (GRCm39)		noncoding transcript	Het
Gm7732	A	G	17: 21,349,709 (GRCm39)		noncoding transcript	Het
Gpr3	G	T	4: 132,938,405 (GRCm39)	A89E	probably damaging	Het
Kat2a	A	G	11: 100,601,973 (GRCm39)		probably null	Het
Kmt2a	C	T	9: 44,735,932 (GRCm39)		probably benign	Het
Med12l	T	C	3: 59,000,143 (GRCm39)	L666P	probably benign	Het
Mmp2	T	G	8: 93,562,635 (GRCm39)	C291G	probably damaging	Het
Neb	A	G	2: 52,154,203 (GRCm39)	Y2303H	probably damaging	Het
Or14a259	C	A	7: 86,012,688 (GRCm39)	V286L	probably benign	Het
Or1d2	T	A	11: 74,256,299 (GRCm39)	M268K	probably benign	Het
Or1o2	T	C	17: 37,543,263 (GRCm39)		probably benign	Het
Pde1b	T	A	15: 103,436,646 (GRCm39)		probably benign	Het
Prl7a2	A	C	13: 27,851,953 (GRCm39)	C9G	probably null	Het
Rabl6	A	G	2: 25,477,469 (GRCm39)	V327A	probably benign	Het
Robo2	T	A	16: 73,770,189 (GRCm39)	I516F	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc35a3	G	A	3: 116,488,267 (GRCm39)	T140I	possibly damaging	Het
Slc38a7	A	G	8: 96,568,200 (GRCm39)	V395A	probably damaging	Het
Stag3	T	A	5: 138,280,247 (GRCm39)	C37*	probably null	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Strn	A	G	17: 78,991,780 (GRCm39)	S180P	probably damaging	Het
Sulf1	A	G	1: 12,867,064 (GRCm39)	T83A	probably benign	Het
Vmn1r69	T	C	7: 10,314,585 (GRCm39)	I49V	probably benign	Het
Vrk2	G	A	11: 26,426,564 (GRCm39)	P387L	probably benign	Het
Xdh	A	T	17: 74,233,565 (GRCm39)	M183K	probably benign	Het

Other mutations in Kit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16