Mutagenetix > Incidental Mutation

Incidental Mutation 'R7711:Kit'

594606

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: 0.959) question?

Stock #

R7711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75574916-75656722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75637359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 436 (F436I)

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: F436I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: F436I

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: F436I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: F436I

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: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,159,984	E342K	possibly damaging	Het
9430015G10Rik	T	G	4: 156,119,192	V34G	probably damaging	Het
Alkbh3	T	C	2: 94,008,092	S44G	probably benign	Het
Alpk2	A	T	18: 65,306,484	C613S	probably benign	Het
Aplp2	G	A	9: 31,161,349	R488C	probably damaging	Het
Arid1b	A	G	17: 5,336,820	N1463S	probably benign	Het
Atxn2l	A	T	7: 126,501,269	L125Q	probably damaging	Het
C130060K24Rik	A	G	6: 65,441,373	H23R		Het
Cd3d	A	G	9: 44,986,336	K172E	probably benign	Het
Chd7	T	A	4: 8,805,234	D764E	probably benign	Het
Col19a1	T	C	1: 24,530,008	I220V	unknown	Het
Cpq	T	C	15: 33,497,347	I411T	probably benign	Het
Crybg2	C	A	4: 134,065,533	H160N	probably benign	Het
Cryl1	A	T	14: 57,275,556	C285S	probably benign	Het
Dapk1	A	G	13: 60,761,551	D1326G	probably damaging	Het
Dgkh	A	G	14: 78,725,019	V24A	probably benign	Het
Dnajb4	A	C	3: 152,186,517	S226R	probably benign	Het
Dnm3	A	T	1: 161,992,053	I850N	possibly damaging	Het
Dtna	G	T	18: 23,625,196		probably null	Het
Efcab6	G	T	15: 83,949,924	D494E	probably benign	Het
Fam169a	G	T	13: 97,126,688	E550*	probably null	Het
Fbxw7	A	G	3: 84,925,681	N10S	probably benign	Het
Flrt2	T	C	12: 95,780,754	F622S	probably damaging	Het
Gm17359	A	G	3: 79,405,860	I80M	probably damaging	Het
Gm884	G	T	11: 103,614,912	Q2077K	probably benign	Het
Gm906	T	G	13: 50,247,095	R398S	probably benign	Het
Gprc5d	G	A	6: 135,116,357	T184I	possibly damaging	Het
Grem2	A	G	1: 174,837,127	V52A	probably damaging	Het
Gtf3c2	G	T	5: 31,170,189	T310N	probably damaging	Het
H2-Bl	T	A	17: 36,083,878	N51I	probably damaging	Het
Hyou1	A	G	9: 44,384,462	D338G	possibly damaging	Het
Ifna6	T	C	4: 88,827,734	S107P	probably benign	Het
Kif14	G	T	1: 136,471,453	G451C	probably benign	Het
Lonp2	G	A	8: 86,714,008	C751Y	probably damaging	Het
Lonrf1	C	A	8: 36,249,221	G87C	probably damaging	Het
Lrp2	T	C	2: 69,479,343		probably null	Het
Mkln1	A	G	6: 31,492,649	H598R	probably damaging	Het
Mmaa	T	C	8: 79,268,145	H344R	probably benign	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Myh7b	T	G	2: 155,620,403	L342R	probably damaging	Het
Olfr1120	A	G	2: 87,357,527	N28D	probably benign	Het
Olfr1291-ps1	T	A	2: 111,500,152	I300K	probably damaging	Het
Olfr18	A	T	9: 20,314,023	V299E	possibly damaging	Het
Olfr753-ps1	C	T	17: 37,169,956	G129R	probably damaging	Het
Pcsk5	T	A	19: 17,439,080	Y1668F	possibly damaging	Het
Pfn4	C	T	12: 4,774,414	T47I	possibly damaging	Het
Pklr	T	C	3: 89,141,342	L104P	probably damaging	Het
Plcxd2	A	G	16: 45,980,330	V177A	probably benign	Het
Pramef25	T	C	4: 143,949,252	S335G	probably benign	Het
Prdm10	G	T	9: 31,357,232	A826S	probably damaging	Het
Prrt4	A	G	6: 29,177,456	S105P	probably benign	Het
Prss51	T	A	14: 64,097,488	V164E	probably damaging	Het
Psap	T	C	10: 60,299,855	V360A	probably damaging	Het
Psg22	T	C	7: 18,718,342		probably null	Het
Rad51	A	G	2: 119,131,590	Q206R	probably benign	Het
Rap1gds1	T	C	3: 138,959,113	K277R	probably benign	Het
Rassf2	T	A	2: 132,005,377	T103S	probably benign	Het
Rbm15b	T	A	9: 106,885,943	H342L	possibly damaging	Het
Rsf1	G	GACCGCGGCC	7: 97,579,909		probably benign	Het
Scaf8	T	C	17: 3,187,634	F561L	probably damaging	Het
Scn1a	G	A	2: 66,303,660	A130V	probably benign	Het
Scn7a	T	C	2: 66,700,877	E552G	probably damaging	Het
Slc39a14	T	A	14: 70,313,675	R183W	probably damaging	Het
Slfn1	A	T	11: 83,121,263	K68N	possibly damaging	Het
Slx4ip	A	G	2: 137,067,994	D303G	probably damaging	Het
Snx17	T	A	5: 31,195,460	F101Y	probably damaging	Het
Specc1l	C	A	10: 75,230,808	N30K	probably benign	Het
Tbx19	A	G	1: 165,139,199	S369P	probably benign	Het
Usp17ld	T	C	7: 103,250,282	H481R	probably damaging	Het
Wnt2	A	G	6: 17,990,037	L287P	probably benign	Het
Zfhx4	G	T	3: 5,396,956	M1230I	probably damaging	Het
Zfp1	T	C	8: 111,670,162	C272R	not run	Het
Zfp458	A	G	13: 67,259,600	S64P	possibly 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
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
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'- ACCTCTGGGTGTCTCCTTAG -3'
(R):5'- TCTTAAGAAGCCACACAGATATAGGAG -3'

Sequencing Primer
(F):5'- AGCTTTCTCAGTTGCCTCCAGAAG -3'
(R):5'- GAAAAGAGTAATCAGAAGACAGCC -3'

Posted On

2019-11-12