Mutagenetix > Incidental Mutation

Incidental Mutation 'R8969:Kit'

682927

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

068803-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R8969 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75574916-75656722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75639062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 485 (V485I)

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

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: V485I

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: V485I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: V485I

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: 99.5%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,277,944	N662K	probably benign	Het
Acp7	G	A	7: 28,607,957	R492W	probably damaging	Het
Adam33	C	T	2: 131,053,074	G688D	probably damaging	Het
Ak3	T	G	19: 29,047,694	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,570,808	T417A	probably benign	Het
Ambp	C	T	4: 63,154,091		probably benign	Het
Arhgef11	T	C	3: 87,725,642	S687P	probably damaging	Het
Ash1l	T	C	3: 88,966,291	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,387,834	A524T	probably benign	Het
Btbd10	A	T	7: 113,325,955	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,705,579	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,653	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522	D501E	probably benign	Het
Chrnb2	A	G	3: 89,757,225	F461L	probably damaging	Het
Clic1	T	C	17: 35,055,410		probably null	Het
Cmah	A	G	13: 24,422,653	Y89C	probably damaging	Het
Crkl	A	G	16: 17,469,054	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,112,820	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,547,794	Y142S	probably damaging	Het
Decr2	T	A	17: 26,087,381	M94L	probably benign	Het
Dspp	A	T	5: 104,177,774	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723	R1708G	probably damaging	Het
Eno3	T	A	11: 70,660,865	I217N	possibly damaging	Het
Fcho2	A	T	13: 98,755,096	L386*	probably null	Het
Gm5114	C	A	7: 39,409,308	V296F	probably damaging	Het
Hc	A	G	2: 35,019,463		probably null	Het
Helz2	A	G	2: 181,237,788	V679A	probably benign	Het
Ifnar2	T	C	16: 91,404,172	F434L	probably benign	Het
Isl1	A	G	13: 116,303,321	S164P	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,660,088	Y621*	probably null	Het
Kif2b	T	C	11: 91,577,193	H88R	probably benign	Het
Klhl36	T	C	8: 119,870,148	L196P	probably damaging	Het
Klk1b27	T	A	7: 44,054,508	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,314,389	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,387,608	N242Y	probably damaging	Het
Krt36	T	A	11: 100,102,303	I449F	probably damaging	Het
Med27	G	T	2: 29,346,863	V7F	possibly damaging	Het
Mxd1	C	T	6: 86,651,484	V145M	probably benign	Het
Mylip	T	A	13: 45,391,344	F81L	probably damaging	Het
Nceh1	T	A	3: 27,222,736	F69L	probably null	Het
Ndufs3	A	T	2: 90,902,429	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,559,130	V46G	unknown	Het
Olfr1022	A	G	2: 85,869,488	N299D	probably benign	Het
Olfr1111	T	A	2: 87,150,584	M26L	probably benign	Het
Olfr33	T	C	7: 102,714,351	T21A	probably benign	Het
Olfr585	T	G	7: 103,098,044	I101S	probably damaging	Het
Palld	T	A	8: 61,684,849	H624L	probably damaging	Het
Pcbp2	T	G	15: 102,490,779	L343R	probably damaging	Het
Pclo	T	A	5: 14,522,194	I531N	unknown	Het
Phip	T	C	9: 82,926,964		probably benign	Het
Phldb2	A	T	16: 45,772,133		probably null	Het
Ppp2r5e	G	T	12: 75,453,718	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,903,447	I97M	probably benign	Het
Ptpn21	T	A	12: 98,689,025	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079	H121Q	possibly damaging	Het
Rrnad1	G	A	3: 87,929,975		probably benign	Het
Sec1	A	G	7: 45,679,473	F50S	possibly damaging	Het
Sec62	A	G	3: 30,818,875	E369G	unknown	Het
Serpinb2	A	T	1: 107,524,660	I323F	probably damaging	Het
Sh3rf1	A	C	8: 61,384,826	T802P	probably benign	Het
Srd5a3	A	G	5: 76,153,646	R241G	probably benign	Het
Suox	T	C	10: 128,671,673	N162S	probably benign	Het
Tenm2	C	T	11: 36,051,861	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,011,738	D86G	probably damaging	Het
Tmc1	G	A	19: 20,816,229	R523C	probably damaging	Het
Tmprss11e	T	A	5: 86,713,899	I263L	possibly damaging	Het
Tmtc4	T	C	14: 122,941,812		probably benign	Het
Tnfrsf22	T	A	7: 143,638,436	N171I	unknown	Het
Trpm3	A	G	19: 22,925,944	S1035G	probably damaging	Het
U2af1	C	T	17: 31,648,880	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,085,634	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,478,019	T154A	probably benign	Het
Xrn2	T	C	2: 147,029,384	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,428,665	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,725,280	S269L	probably benign	Het
Zfp735	T	A	11: 73,711,873	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,225,834		probably null	Het
Zranb3	A	T	1: 127,960,851	D832E	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
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
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
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'- ATACAAGCATGCCAGCTCTAGG -3'
(R):5'- AGCATGGTGTACTGCTGTACTG -3'

Sequencing Primer
(F):5'- ATGCCAGCTCTAGGTGCTG -3'
(R):5'- ACTGCTGTACTGTCGGTATTAC -3'

Posted On

2021-10-11