Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Kit'

601072

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: 0.946) question?

Stock #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75574916-75656722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75609322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 131 (S131R)

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: S131R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: S131R

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 benign
Transcript: ENSMUST00000144270
AA Change: S131R

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: S131R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,677,304	Y93*	probably null	Het
Adam34	T	C	8: 43,652,008	E200G	probably benign	Het
Ankfy1	C	T	11: 72,754,455	Q787*	probably null	Het
BC003331	T	C	1: 150,392,908		probably benign	Het
Birc6	T	A	17: 74,548,820	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,985,420		probably null	Het
Cabp5	T	A	7: 13,398,338	F11I	possibly damaging	Het
Casc1	T	G	6: 145,194,586	D163A	probably benign	Het
Ccdc88a	T	C	11: 29,485,964	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,849,086	V1087A	probably benign	Het
Cct3	C	T	3: 88,321,135	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,723,733	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,256,918	E487G	probably damaging	Het
Chd5	A	G	4: 152,358,575	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,793,308	H286L	possibly damaging	Het
Efr3a	G	T	15: 65,787,173		probably benign	Het
Fam208b	T	C	13: 3,575,714	K1412R	possibly damaging	Het
Fastkd2	T	A	1: 63,731,692	I69N	possibly damaging	Het
Flg2	T	C	3: 93,200,241	I11T	possibly damaging	Het
Folr2	T	C	7: 101,840,895	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786	F360S	probably damaging	Het
Galr2	T	C	11: 116,283,120	V192A	probably benign	Het
Gas6	A	T	8: 13,466,809	I563N	probably damaging	Het
Gbe1	T	C	16: 70,527,197	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,731,371	H423Y	probably damaging	Het
Gm14548	C	A	7: 3,894,205	C544F	probably damaging	Het
Gm6902	T	C	7: 23,273,818	T95A	probably benign	Het
Gpr155	G	T	2: 73,381,952	A109D	probably damaging	Het
Hsdl1	T	C	8: 119,567,972	D5G	probably damaging	Het
Hyal1	C	T	9: 107,578,429	P313S	probably damaging	Het
Igfn1	G	A	1: 135,974,789	T390M	probably damaging	Het
Irx1	C	A	13: 71,959,798	R255L	probably benign	Het
Itga2	T	A	13: 114,866,179	T592S	probably benign	Het
Map1b	T	C	13: 99,431,882	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,389,151	E112K	probably benign	Het
Marveld3	T	C	8: 109,954,634	I210V	probably damaging	Het
Masp1	T	A	16: 23,476,318	I398L	probably benign	Het
Mmrn1	T	C	6: 60,976,325	I530T	probably benign	Het
Mtss1l	A	G	8: 110,726,201	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,160,465	S600R	probably benign	Het
Myo5a	A	G	9: 75,169,010	I836V	probably benign	Het
Naaladl1	A	G	19: 6,109,664	D375G	probably damaging	Het
Napepld	T	A	5: 21,683,265	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,312,007	I719S	possibly damaging	Het
Nes	T	A	3: 87,975,616	M394K	probably benign	Het
Nlrc5	A	T	8: 94,505,144	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 107,192,575	C822*	probably null	Het
Noa1	A	C	5: 77,309,224	L278R	probably damaging	Het
Nop16	A	G	13: 54,590,076		probably benign	Het
Olfr1448	A	G	19: 12,919,865	V148A	probably benign	Het
Olfr746	A	T	14: 50,653,993	Y252F	probably benign	Het
Osbpl10	C	T	9: 115,061,894	H117Y	probably benign	Het
Oxct1	A	T	15: 4,047,576	E130D	probably benign	Het
Padi2	A	G	4: 140,949,264	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,145,664	V566M	probably benign	Het
Pdcd11	G	A	19: 47,098,220	E222K	possibly damaging	Het
Plekha2	A	G	8: 25,088,340		probably null	Het
Pogz	T	C	3: 94,870,107	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,188,086	I145V	probably benign	Het
Prkcd	A	G	14: 30,598,450		probably null	Het
Ptprk	T	A	10: 28,592,857	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,792,622	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,958,939	H116L	probably damaging	Het
Sdk1	A	G	5: 141,937,679	T352A	probably benign	Het
Sept9	T	A	11: 117,359,438	C529*	probably null	Het
Setx	T	A	2: 29,148,651	V1716D	probably benign	Het
Slc19a3	C	T	1: 83,019,441	V349I	probably benign	Het
Slc27a4	C	A	2: 29,805,710	R86S	probably benign	Het
Slc4a8	A	G	15: 100,798,178	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,325,622	R58G	probably damaging	Het
Sphkap	T	A	1: 83,276,300	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,949,946	S261P	unknown	Het
Tab1	A	T	15: 80,158,798	T398S	possibly damaging	Het
Tas2r131	T	A	6: 132,957,742	T35S	probably benign	Het
Tigd4	T	A	3: 84,595,003	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,616,708	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,897,311	C894S	unknown	Het
Topaz1	T	A	9: 122,749,185	S387T	probably benign	Het
Tsfm	T	C	10: 127,011,689	R178G	probably benign	Het
Ttll13	T	C	7: 80,253,127	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,625,141	K97N		Het
Ubr4	A	G	4: 139,415,083	E38G		Het
Ugt2b37	T	C	5: 87,254,259	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,765,241	M935I	probably benign	Het
Usp34	T	C	11: 23,412,314	S1606P		Het
Vmn1r195	T	C	13: 22,279,074	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,425,212	M419L	probably benign	Het
Washc2	G	T	6: 116,259,059	A1164S	probably benign	Het
Wdfy3	A	T	5: 101,895,074	M1937K	probably benign	Het
Wdfy3	A	T	5: 101,951,399	L261*	probably null	Het
Wdr64	A	T	1: 175,731,526	Y285F	probably benign	Het
Wtap	A	G	17: 12,980,910	L62P	probably damaging	Het
Zfp94	C	A	7: 24,303,073	V315F	probably benign	Het
Zhx1	A	T	15: 58,048,402		probably null	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
R7819:Kit	UTSW	5	75645932	missense	probably benign	0.41
R8021:Kit	UTSW	5	75615491	missense	possibly damaging	0.79
R8139:Kit	UTSW	5	75652805	missense	probably damaging	0.99
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'- TCCATTGTGTTATTCAAGCTTGTAAT -3'
(R):5'- CTGAGCAGCACAGCGGAC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCTGAGGCG -3'
(R):5'- CACAGAGCCGGTGGTAGG -3'

Posted On

2019-11-26