Mutagenetix > Incidental Mutation

Incidental Mutation 'R8290:Kit'

638633

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 #

R8290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75574916-75656722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75641169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 615 (I615V)

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: I615V

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

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: I615V

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: I611V

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

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: I611V

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: 99.6%
20x: 98.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,512,282	Y1100N	probably damaging	Het
Abcf2	CAT	CATAAT	5: 24,576,591		probably benign	Het
Adgrv1	T	C	13: 81,481,883	T3576A	probably benign	Het
Adnp2	A	T	18: 80,142,733	N8K	probably damaging	Het
Aftph	A	T	11: 20,725,712	H632Q	probably benign	Het
Arhgef11	A	T	3: 87,725,968	I710F	probably damaging	Het
Atp6v1c2	T	C	12: 17,288,152	N341S	possibly damaging	Het
Ccsap	T	G	8: 123,859,247	D55A	probably benign	Het
Cdh17	A	G	4: 11,817,037	N816S	probably benign	Het
Celf3	A	G	3: 94,479,182	I26V	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Chek2	A	G	5: 110,860,900	E299G	possibly damaging	Het
Clca2	A	G	3: 145,087,958	V312A	possibly damaging	Het
Cnn1	A	G	9: 22,101,151	K25R	probably benign	Het
Cry1	A	T	10: 85,143,113	Y516*	probably null	Het
Dcaf4	T	C	12: 83,541,559	S498P	probably benign	Het
Dmgdh	T	C	13: 93,706,736	V360A	probably benign	Het
Dnajc18	G	A	18: 35,683,271	R205*	probably null	Het
Eif4a2	G	T	16: 23,108,622	G22C	probably damaging	Het
Elmo2	A	G	2: 165,309,003	I196T	probably damaging	Het
Epha3	A	G	16: 63,652,496	I342T	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etf1	G	A	18: 34,931,838	P35L	unknown	Het
Etnk2	A	C	1: 133,379,389	*386C	probably null	Het
Fgg	A	T	3: 83,012,834	I307F	probably benign	Het
Flg2	A	G	3: 93,202,762	Q699R	unknown	Het
Foxp4	T	A	17: 47,880,853	T120S	unknown	Het
Fzd1	A	G	5: 4,757,060	V174A	possibly damaging	Het
Gad1	A	C	2: 70,574,266	I167L	probably benign	Het
Gfm2	T	A	13: 97,145,663	D55E	probably benign	Het
Gm6904	T	C	14: 59,247,969	Y114C	probably damaging	Het
Grb14	G	T	2: 64,975,585	A12E	probably benign	Het
Hnmt	A	C	2: 24,003,884	Y199*	probably null	Het
Kpna6	A	G	4: 129,661,304		probably null	Het
Lpxn	C	T	19: 12,832,688	R275C	probably damaging	Het
Magi1	C	T	6: 94,283,085	G80S	probably damaging	Het
Men1	A	G	19: 6,338,286	I312V	probably benign	Het
Msx2	A	G	13: 53,468,492	F161L	probably damaging	Het
Mtr	T	C	13: 12,190,253	D1107G	probably damaging	Het
Muc4	A	T	16: 32,754,316	M1397L	probably benign	Het
Mybpc3	A	G	2: 91,121,128	N259S	probably benign	Het
Myo5c	A	G	9: 75,288,896	K1242R	probably benign	Het
Myoc	T	C	1: 162,649,032	V435A	possibly damaging	Het
Nbea	G	A	3: 56,058,635	Q469*	probably null	Het
Ndufa10	A	C	1: 92,463,147	M227R	possibly damaging	Het
Obscn	C	T	11: 59,062,710	D3831N	probably damaging	Het
Obscn	T	C	11: 59,124,574	E1024G	probably damaging	Het
Oma1	T	C	4: 103,319,474	L145P	probably damaging	Het
Phf12	C	A	11: 78,029,639	N1000K	probably benign	Het
Plxnb1	G	T	9: 109,109,619	A1350S	probably benign	Het
Prkd1	C	T	12: 50,342,016	V915I	probably damaging	Het
Prkra	T	A	2: 76,633,638	N227Y	probably damaging	Het
Prtg	A	T	9: 72,890,795	H681L	probably damaging	Het
Rtn1	T	C	12: 72,308,419	K251R	probably benign	Het
Sema6b	A	T	17: 56,124,803	V620E	possibly damaging	Het
Senp7	T	A	16: 56,153,637	L407*	probably null	Het
Sh3pxd2a	A	T	19: 47,314,136	L168Q	probably damaging	Het
Shtn1	A	G	19: 58,999,894	L453P	probably damaging	Het
Slc26a6	G	A	9: 108,856,031	R43H	probably benign	Het
Stac3	T	C	10: 127,503,360		probably null	Het
Taf2	A	G	15: 55,063,020	F178S	probably damaging	Het
Tcp10a	G	A	17: 7,334,317	E239K	probably benign	Het
Ubox5	A	G	2: 130,600,413	V118A	probably damaging	Het
Unc13d	C	A	11: 116,068,147	L729F	probably damaging	Het
Vmn1r228	T	C	17: 20,776,462	T265A	probably benign	Het
Vmn2r100	G	A	17: 19,531,350	V615I	probably damaging	Het
Vmn2r60	T	G	7: 42,142,266	C538G	probably damaging	Het
Vmn2r93	A	T	17: 18,304,029	N95I	probably damaging	Het
Vsig2	A	G	9: 37,539,968	N55S	probably benign	Het
Zfp472	A	G	17: 32,978,114	T388A	probably benign	Het
Zfp853	G	A	5: 143,289,071	Q214*	probably null	Het
Zfp949	A	G	9: 88,569,240	R288G	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
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
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'- CAAACTGCACAGGAGTTGGC -3'
(R):5'- GCCTCTCTTTCTGTTAAATGGG -3'

Sequencing Primer
(F):5'- TTAGCAGAAAGAGCCCCGTAG -3'
(R):5'- CTGTTAAATGGGCACTTGCTAAAAGG -3'

Posted On

2020-07-28