Mutagenetix > Incidental Mutation

Incidental Mutation 'R2033:Kit'

221466

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

040040-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R2033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75574916-75656722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 75637317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 422 (D422H)

Ref Sequence

ENSEMBL: ENSMUSP00000116465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005815] [ENSMUST00000144270]

AlphaFold

P05532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005815
AA Change: D422H

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: D422H

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

noncoding transcript
Transcript: ENSMUST00000136002

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144270
AA Change: D422H

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: D422H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151357

Meta Mutation Damage Score

0.1749

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,456,383	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,673,966		probably null	Het
Bpifc	G	A	10: 86,000,632	T3I	possibly damaging	Het
Car12	A	G	9: 66,717,558		probably null	Het
Ccrl2	A	G	9: 111,055,870	F187L	possibly damaging	Het
Cep250	G	A	2: 155,970,892	R544H	probably damaging	Het
Col4a3	T	G	1: 82,718,011		probably benign	Het
Cyb5r2	T	C	7: 107,756,907		probably null	Het
Elfn2	A	G	15: 78,671,896	V817A	probably damaging	Het
Eln	C	T	5: 134,710,106		probably null	Het
Eml5	T	C	12: 98,791,386	E1896G	possibly damaging	Het
G530012D18Rik	CACAGA	CA	1: 85,577,154		probably null	Het
Galnt11	C	T	5: 25,247,538	T16I	probably damaging	Het
Gars	C	T	6: 55,077,723	H672Y	probably benign	Het
Gpr155	T	A	2: 73,348,182	H726L	probably benign	Het
Inpp1	T	A	1: 52,790,173	N229I	possibly damaging	Het
Isg20	A	C	7: 78,916,533	I77L	probably damaging	Het
Lonp2	A	G	8: 86,708,942	E602G	possibly damaging	Het
Mink1	T	C	11: 70,612,508	V1143A	probably damaging	Het
Myh6	A	C	14: 54,963,645	L120R	probably benign	Het
Myo18a	T	A	11: 77,843,099		probably null	Het
Nphs2	T	C	1: 156,323,738	V249A	probably damaging	Het
Npsr1	A	G	9: 24,313,352	K342E	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nudt18	G	T	14: 70,579,616	G162V	possibly damaging	Het
Odam	A	G	5: 87,892,419	D248G	probably benign	Het
Olfr1224-ps1	A	G	2: 89,157,154	V7A	probably damaging	Het
Olfr147	G	T	9: 38,403,373	M166I	probably damaging	Het
Olfr390	T	C	11: 73,787,438	S167P	probably benign	Het
Olfr557	A	G	7: 102,699,162	E308G	probably benign	Het
Olfr572	T	C	7: 102,928,408	V260A	probably benign	Het
Pde4b	G	T	4: 102,605,295	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,150,954	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,337,627	R715H	probably damaging	Het
Prkdc	T	A	16: 15,687,352		probably benign	Het
Ptp4a3	A	G	15: 73,753,769	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,592,767		probably benign	Het
Rfesd	C	A	13: 76,002,872		probably null	Het
Rtel1	A	T	2: 181,351,863	K592*	probably null	Het
Siah1a	T	A	8: 86,725,270	K195N	probably damaging	Het
Slc5a5	G	T	8: 70,888,587	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,724,910	I100F	probably benign	Het
Smtn	T	C	11: 3,517,781	I913V	probably benign	Het
Stk17b	A	G	1: 53,761,076	S248P	probably damaging	Het
Sun1	C	T	5: 139,225,438	H149Y	probably damaging	Het
Taar5	T	C	10: 23,971,094	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,749,289	V448F	probably damaging	Het
Tmem94	C	A	11: 115,794,328	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,706,843	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,806,849	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,075,456	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,544,820	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,491,819	T754A	probably benign	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
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
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'- TGATACCTTCAGGCCGATGG -3'
(R):5'- AATCGCAAGTCCGAAAACACATTTG -3'

Sequencing Primer
(F):5'- GGCAGCGCTGGACAACATAC -3'
(R):5'- CAAGTCCGAAAACACATTTGAAATTC -3'

Posted On

2014-08-25