Mutagenetix > Incidental Mutation

Incidental Mutation 'R8139:Kit'

632400

Institutional Source

Beutler Lab

Gene Symbol

Kit

Ensembl Gene

ENSMUSG00000005672

Gene Name

KIT proto-oncogene receptor tyrosine kinase

Synonyms

SCO5, Dominant white spotting, Tr-kit, belly-spot, CD117, Gsfsow3, Gsfsco5, SOW3, SCO1, Steel Factor Receptor, c-KIT, Gsfsco1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R8139 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75574916-75656722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75652805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 884 (M884T)

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 damaging
Transcript: ENSMUST00000005815
AA Change: M884T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: M884T

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

probably damaging
Transcript: ENSMUST00000144270
AA Change: M880T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: M880T

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

100% (84/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	T	X: 70,394,514	Q58K	possibly damaging	Het
9130409I23Rik	A	G	1: 181,054,793	D40G	probably damaging	Het
Aamdc	T	C	7: 97,565,243	M42V	probably benign	Het
Abca6	T	A	11: 110,184,133	Q1368L	probably damaging	Het
Best3	G	A	10: 117,004,426	G254R	probably damaging	Het
Cacna1h	A	T	17: 25,383,723	I1478N	probably damaging	Het
Ccdc113	T	A	8: 95,558,738	M350K	possibly damaging	Het
Cdc42bpa	A	T	1: 180,069,319	H389L	probably damaging	Het
Cnn3	G	T	3: 121,455,069	M208I	probably damaging	Het
Col11a1	A	G	3: 114,097,049	D345G	unknown	Het
Dnah14	G	T	1: 181,755,288	V3131F	probably damaging	Het
Dst	T	A	1: 34,191,852	M2842K	probably benign	Het
Dus3l	C	T	17: 56,767,058	Q211*	probably null	Het
Eftud2	A	G	11: 102,867,859	F171S	probably benign	Het
Elac2	T	C	11: 64,980,614	I117T	probably benign	Het
Fam13b	A	G	18: 34,473,633	C302R	possibly damaging	Het
Fbxl5	G	A	5: 43,758,745	Q442*	probably null	Het
Fhdc1	A	G	3: 84,451,483	S370P	probably damaging	Het
Gm35911	A	G	5: 99,924,926	I111V	probably benign	Het
Gtf3c6	T	C	10: 40,257,473		probably null	Het
I830077J02Rik	A	G	3: 105,927,998	V21A	probably benign	Het
Inf2	G	T	12: 112,601,640	E209*	probably null	Het
Irs1	A	T	1: 82,289,739	M252K	probably damaging	Het
Kcng3	C	A	17: 83,631,087	V178L	probably damaging	Het
Kif16b	A	C	2: 142,901,365	S3A	probably benign	Het
Kmt2a	A	T	9: 44,819,290		probably benign	Het
Kptn	T	C	7: 16,123,976	I243T	probably benign	Het
Loxhd1	G	A	18: 77,380,496	E947K	possibly damaging	Het
Lyl1	A	T	8: 84,702,847	I62L	probably damaging	Het
Mmp24	C	T	2: 155,814,045	R468*	probably null	Het
Mrvi1	A	G	7: 110,899,672		probably null	Het
Mtx2	G	A	2: 74,876,370	D230N	probably benign	Het
Ndufa5	A	T	6: 24,522,758	Y28*	probably null	Het
Notch4	G	T	17: 34,584,800	E1515*	probably null	Het
Nrxn3	A	G	12: 90,204,664	N923S	probably benign	Het
Ogfod2	C	T	5: 124,113,475	T116M	possibly damaging	Het
Olfr1220	A	G	2: 89,097,843	V28A	probably benign	Het
Olfr492	T	A	7: 108,322,906	T257S	probably benign	Het
Olfr835	A	T	9: 19,035,575	I151F	probably benign	Het
Olfr846	A	C	9: 19,361,208	V49G	probably damaging	Het
Oosp1	T	C	19: 11,667,754	E182G	possibly damaging	Het
Oxnad1	C	A	14: 32,092,091	T47K	possibly damaging	Het
Pcdha5	A	G	18: 36,962,738	M767V	possibly damaging	Het
Pcnx3	A	T	19: 5,665,745	H1444Q	probably benign	Het
Pde4dip	G	T	3: 97,696,993	Q2224K	probably benign	Het
Pgr	A	T	9: 8,956,340	H763L	possibly damaging	Het
Plec	T	C	15: 76,174,310	D3809G	probably damaging	Het
Ppfia1	A	G	7: 144,520,693	S155P	probably damaging	Het
Ppfia4	A	G	1: 134,300,528	V1090A	probably benign	Het
Ptgdr	T	C	14: 44,858,685	E190G	probably benign	Het
Rhbdd2	T	A	5: 135,636,335	C173*	probably null	Het
Rhobtb1	C	A	10: 69,266,290	P134T	probably damaging	Het
Slc25a36	A	T	9: 97,080,452	F161L	probably benign	Het
Slc5a11	A	G	7: 123,269,976	T596A	probably benign	Het
Slco1a6	T	C	6: 142,089,900	Y566C	probably damaging	Het
Snx15	T	G	19: 6,119,915	K321T	probably damaging	Het
Snx15	T	C	19: 6,119,916	K321E	probably damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Syt8	T	C	7: 142,438,268	I32T	probably benign	Het
Thumpd1	T	C	7: 119,720,585	N53D	possibly damaging	Het
Timm21	T	C	18: 84,951,138	T54A	probably benign	Het
Tmed10	A	G	12: 85,344,317	V149A	probably damaging	Het
Tmem108	T	A	9: 103,499,885	M122L	probably benign	Het
Tram1l1	A	G	3: 124,321,787	I199V	probably benign	Het
Tspan8	A	G	10: 115,839,897	N156S	probably benign	Het
Vars	T	C	17: 35,011,504	V521A	probably benign	Het
Vmn2r54	G	T	7: 12,615,816	T613N	possibly damaging	Het
Vps13b	T	A	15: 35,607,272	L1117*	probably null	Het
Vps33a	T	C	5: 123,533,952	K451R	probably benign	Het
Vsig10l	T	C	7: 43,463,729	I35T	probably benign	Het
Xpnpep3	T	A	15: 81,448,459	L399Q	probably damaging	Het
Zfp438	T	C	18: 5,214,013	E315G	probably benign	Het
Zfp467	C	T	6: 48,439,334	G128D	probably damaging	Het

Other mutations in Kit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02281:Kit	APN	5	75654534	missense	possibly damaging	0.66
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
Mooyah2	UTSW	5	75652808	missense	probably damaging	1.00
pretty2	UTSW	5	75649550	missense	probably damaging	1.00
slimmer	UTSW	5	75640757	missense	possibly damaging	0.94
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 null	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 null
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
R6805:Kit	UTSW	5	75652808	missense	probably damaging	1.00
R6823:Kit	UTSW	5	75652649	missense	probably benign	0.01
R6848:Kit	UTSW	5	75607212	missense	probably benign
R7021:Kit	UTSW	5	75620967	missense	probably benign	0.00
R7080:Kit	UTSW	5	75607281	missense	probably damaging	0.99
R7117:Kit	UTSW	5	75607098	missense	probably benign	0.18
R7156:Kit	UTSW	5	75615374	missense	probably benign	0.14
R7379:Kit	UTSW	5	75647752	missense	probably damaging	1.00
R7427:Kit	UTSW	5	75645847	missense	possibly damaging	0.92
R7438:Kit	UTSW	5	75639000	missense	probably benign	0.01
R7531:Kit	UTSW	5	75607040	missense	probably damaging	0.99
R7711:Kit	UTSW	5	75637359	missense	probably damaging	0.97
R7810:Kit	UTSW	5	75609322	missense	probably benign	0.11
R7819:Kit	UTSW	5	75645932	missense	probably benign	0.41
R8021:Kit	UTSW	5	75615491	missense	possibly damaging	0.79
R8165:Kit	UTSW	5	75620880	missense	possibly damaging	0.94
R8249:Kit	UTSW	5	75641408	missense	probably damaging	0.97
R8288:Kit	UTSW	5	75654489	missense	probably damaging	1.00
R8290:Kit	UTSW	5	75641169	missense	probably benign
R8829:Kit	UTSW	5	75639131	missense	probably benign	0.41
R8832:Kit	UTSW	5	75639131	missense	probably benign	0.41
R8969:Kit	UTSW	5	75639062	missense
R9081:Kit	UTSW	5	75640558	missense	probably benign
R9146:Kit	UTSW	5	75649645	missense	probably damaging	1.00
R9232:Kit	UTSW	5	75639132	missense	probably benign	0.00
R9631:Kit	UTSW	5	75607029	missense	possibly damaging	0.95
U24488:Kit	UTSW	5	75623014	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCTGCGTGTACACATTTG -3'
(R):5'- CCACAGCCATGACATTTGAG -3'

Sequencing Primer
(F):5'- CACATTTGAAAGTGATGTCTGGTCC -3'
(R):5'- CATGACATTTGAGCGCGG -3'

Posted On

2020-06-30