Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03053:Kit'

409133

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

75574916-75656722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75610914 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 244 (N244D)

Ref Sequence

ENSEMBL: ENSMUSP00000116465 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000005815
AA Change: N244D

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

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: N244D

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: ENSMUST00000143221

Predicted Effect

probably benign
Transcript: ENSMUST00000144270
AA Change: N244D

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

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: N244D

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,755,853	Q342*	probably null	Het
Arglu1	T	A	8: 8,683,960	I119L	probably benign	Het
Atp1a2	G	A	1: 172,278,356	T914I	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Brwd1	A	T	16: 96,017,677	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 155,966,464	N297Y	probably damaging	Het
Cbwd1	T	A	19: 24,955,377	E97D	probably damaging	Het
Cyp2a4	A	T	7: 26,313,550		probably benign	Het
Cyp2j7	C	T	4: 96,230,037	M106I	probably benign	Het
Dis3	A	G	14: 99,098,734	V112A	probably benign	Het
Ehd3	A	G	17: 73,805,442	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,251,494	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,513,618	V252G	probably benign	Het
Fggy	A	T	4: 95,926,809		probably benign	Het
Hc	G	T	2: 35,024,198	N832K	probably benign	Het
Hnf1a	T	A	5: 114,970,733	M38L	probably benign	Het
Kif13a	T	C	13: 46,752,088	N793S	probably benign	Het
Mb21d1	A	T	9: 78,437,437	F234Y	probably benign	Het
Mgat5b	A	G	11: 116,923,450	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,493,079	H1098R	probably benign	Het
Olfr1094	A	G	2: 86,829,263	I170M	possibly damaging	Het
Olfr1178	A	G	2: 88,391,594	M116V	probably damaging	Het
Olfr1230	A	C	2: 89,296,445	I275S	probably damaging	Het
Olfr138	A	C	17: 38,274,791	S7R	probably damaging	Het
Olfr166	A	T	16: 19,487,219	H127L	probably benign	Het
Olfr198	A	G	16: 59,202,247	Y60H	probably damaging	Het
Olfr215	T	C	6: 116,582,245	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,143,601	I42T	probably damaging	Het
Prkd2	A	G	7: 16,850,263	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,834,166	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,407,332		probably benign	Het
Rc3h1	T	A	1: 160,955,817	D734E	probably benign	Het
Rtel1	A	G	2: 181,351,944	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,614,860	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,092,074	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,823,118	Y755C	probably damaging	Het
Zfhx3	T	C	8: 108,946,500	V1394A	probably damaging	Het
Zzef1	G	T	11: 72,831,539		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
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
U24488:Kit	UTSW	5	75623014	nonsense	probably null

Posted On

2016-08-02