Mutagenetix > Incidental Mutation

Incidental Mutation 'R8288:Kit'

638520

Institutional Source

Beutler Lab

Gene Symbol

Kit

Ensembl Gene

ENSMUSG00000005672

Gene Name

KIT proto-oncogene receptor tyrosine kinase

Synonyms

Gsfsco1, CD117, SCO1, Gsfsow3, belly-spot, SCO5, SOW3, Tr-kit, c-KIT, Steel Factor Receptor, Gsfsco5, Dominant white spotting

MMRRC Submission

067710-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R8288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75735647-75817382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75815149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 962 (S962P)

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: S962P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: S962P

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: S958P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: S958P

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	C	T	8: 23,283,153 (GRCm39)	A200T	probably benign	Het
Arpp19	T	C	9: 74,944,914 (GRCm39)	M1T	probably null	Het
Baiap2	T	A	11: 119,888,465 (GRCm39)	V407E	probably damaging	Het
Cdh18	A	G	15: 23,446,073 (GRCm39)	T508A	probably damaging	Het
Cnnm3	C	A	1: 36,551,074 (GRCm39)	A28E	possibly damaging	Het
Cpb1	A	T	3: 20,319,531 (GRCm39)	C184*	probably null	Het
Ddb1	T	C	19: 10,585,712 (GRCm39)	V142A	probably benign	Het
Disp2	T	C	2: 118,620,762 (GRCm39)	V498A	probably damaging	Het
Dmgdh	T	C	13: 93,845,332 (GRCm39)	Y442H	probably damaging	Het
Dync2i1	A	G	12: 116,177,345 (GRCm39)	F811S	probably damaging	Het
Eef2k	T	A	7: 120,502,604 (GRCm39)	M722K	probably damaging	Het
Erbb4	A	G	1: 68,337,509 (GRCm39)	F603S	probably damaging	Het
Filip1l	C	T	16: 57,390,917 (GRCm39)	R502C	probably damaging	Het
Gbp9	C	T	5: 105,253,599 (GRCm39)	V39M	probably damaging	Het
Gm17079	T	C	14: 51,931,815 (GRCm39)	Y98C		Het
Gstz1	A	G	12: 87,194,604 (GRCm39)	M1V	probably null	Het
Hsd17b13	T	G	5: 104,111,701 (GRCm39)	I281L	probably benign	Het
Hydin	A	G	8: 111,233,661 (GRCm39)	E1833G	probably damaging	Het
Irs1	G	A	1: 82,265,682 (GRCm39)	Q845*	probably null	Het
Kctd11	C	T	11: 69,770,883 (GRCm39)	G52R	probably damaging	Het
Lrrn1	C	T	6: 107,543,955 (GRCm39)		probably benign	Het
Mastl	T	C	2: 23,023,371 (GRCm39)	K451E	probably damaging	Het
Mptx2	A	G	1: 173,102,356 (GRCm39)	V111A	probably benign	Het
Nuak2	G	T	1: 132,255,579 (GRCm39)	C178F	probably damaging	Het
Pah	G	A	10: 87,374,047 (GRCm39)	R71H	probably benign	Het
Pclo	C	A	5: 14,762,885 (GRCm39)	T501K		Het
Pla2g4e	C	T	2: 120,018,990 (GRCm39)		probably null	Het
Polq	A	G	16: 36,848,272 (GRCm39)	E293G	probably damaging	Het
Rptor	G	A	11: 119,748,763 (GRCm39)	E782K	probably benign	Het
Scn7a	T	A	2: 66,506,318 (GRCm39)	R1524W	probably damaging	Het
Slc4a5	T	C	6: 83,203,237 (GRCm39)	S46P	probably benign	Het
Srcap	T	A	7: 127,130,528 (GRCm39)	I664N	probably damaging	Het
Stk24	A	C	14: 121,530,841 (GRCm39)	F372V	possibly damaging	Het
Szt2	T	C	4: 118,246,973 (GRCm39)	S881G	probably damaging	Het
Trim40	T	C	17: 37,194,210 (GRCm39)	D161G	probably benign	Het
Trip11	T	C	12: 101,860,643 (GRCm39)	H234R	possibly damaging	Het
Trpc1	T	C	9: 95,603,434 (GRCm39)	K366R	probably damaging	Het
Ugt2b35	T	C	5: 87,149,316 (GRCm39)	L189P	probably damaging	Het
Unc80	A	G	1: 66,512,509 (GRCm39)	S140G	probably benign	Het
Zfp446	A	G	7: 12,711,885 (GRCm39)	E36G	probably benign	Het
Zfp738	T	A	13: 67,818,908 (GRCm39)	H361L	possibly damaging	Het

Other mutations in Kit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Kit	APN	5	75,771,479 (GRCm39)	missense	probably benign	0.00
IGL00834:Kit	APN	5	75,806,619 (GRCm39)	missense	probably damaging	1.00
IGL00846:Kit	APN	5	75,801,471 (GRCm39)	missense	probably damaging	0.98
IGL01149:Kit	APN	5	75,771,536 (GRCm39)	missense	probably damaging	0.97
IGL01341:Kit	APN	5	75,767,734 (GRCm39)	missense	probably damaging	1.00
IGL02004:Kit	APN	5	75,781,674 (GRCm39)	missense	probably benign
IGL02281:Kit	APN	5	75,815,194 (GRCm39)	missense	possibly damaging	0.66
IGL02424:Kit	APN	5	75,799,766 (GRCm39)	missense	probably benign
IGL02697:Kit	APN	5	75,767,919 (GRCm39)	missense	probably benign
IGL02929:Kit	APN	5	75,801,429 (GRCm39)	missense	probably damaging	1.00
IGL03053:Kit	APN	5	75,771,574 (GRCm39)	missense	probably benign
IGL03127:Kit	APN	5	75,801,848 (GRCm39)	missense	probably benign	0.44
IGL03174:Kit	APN	5	75,767,773 (GRCm39)	missense	probably benign
IGL03381:Kit	APN	5	75,767,788 (GRCm39)	missense	probably benign	0.04
casper	UTSW	5	75,806,535 (GRCm39)	missense	probably damaging	1.00
Mooyah2	UTSW	5	75,813,468 (GRCm39)	missense	probably damaging	1.00
pretty2	UTSW	5	75,810,210 (GRCm39)	missense	probably damaging	1.00
slimmer	UTSW	5	75,801,417 (GRCm39)	missense	possibly damaging	0.94
IGL02837:Kit	UTSW	5	75,799,668 (GRCm39)	missense	probably benign	0.00
R0022:Kit	UTSW	5	75,783,657 (GRCm39)	missense	probably benign	0.00
R0022:Kit	UTSW	5	75,783,657 (GRCm39)	missense	probably benign	0.00
R0092:Kit	UTSW	5	75,808,414 (GRCm39)	missense	possibly damaging	0.93
R0254:Kit	UTSW	5	75,781,581 (GRCm39)	missense	probably benign
R0329:Kit	UTSW	5	75,813,489 (GRCm39)	missense	probably damaging	1.00
R0609:Kit	UTSW	5	75,771,539 (GRCm39)	missense	probably benign	0.35
R1068:Kit	UTSW	5	75,770,178 (GRCm39)	missense	probably benign
R1115:Kit	UTSW	5	75,810,192 (GRCm39)	splice site	probably benign
R1480:Kit	UTSW	5	75,797,977 (GRCm39)	missense	probably benign	0.00
R1639:Kit	UTSW	5	75,813,467 (GRCm39)	missense	probably damaging	1.00
R1801:Kit	UTSW	5	75,809,053 (GRCm39)	missense	probably damaging	1.00
R1973:Kit	UTSW	5	75,776,102 (GRCm39)	missense	probably damaging	1.00
R2033:Kit	UTSW	5	75,797,977 (GRCm39)	missense	possibly damaging	0.88
R3125:Kit	UTSW	5	75,808,488 (GRCm39)	missense	probably null	0.00
R3125:Kit	UTSW	5	75,808,487 (GRCm39)	missense	probably benign	0.07
R3437:Kit	UTSW	5	75,806,565 (GRCm39)	missense	probably damaging	1.00
R3791:Kit	UTSW	5	75,799,810 (GRCm39)	missense	probably damaging	1.00
R3939:Kit	UTSW	5	75,769,978 (GRCm39)	missense	probably benign	0.00
R3940:Kit	UTSW	5	75,769,978 (GRCm39)	missense	probably benign	0.00
R3941:Kit	UTSW	5	75,769,978 (GRCm39)	missense	probably benign	0.00
R3942:Kit	UTSW	5	75,769,978 (GRCm39)	missense	probably benign	0.00
R4092:Kit	UTSW	5	75,771,470 (GRCm39)	missense	probably benign	0.28
R4376:Kit	UTSW	5	75,801,159 (GRCm39)	missense	probably benign	0.00
R4377:Kit	UTSW	5	75,801,159 (GRCm39)	missense	probably benign	0.00
R4668:Kit	UTSW	5	75,801,880 (GRCm39)	splice site	probably null
R5104:Kit	UTSW	5	75,776,138 (GRCm39)	missense	probably benign	0.00
R5152:Kit	UTSW	5	75,781,507 (GRCm39)	missense	probably benign	0.00
R5154:Kit	UTSW	5	75,801,200 (GRCm39)	missense	probably damaging	0.99
R5508:Kit	UTSW	5	75,810,208 (GRCm39)	missense	probably damaging	1.00
R5624:Kit	UTSW	5	75,770,054 (GRCm39)	missense	probably benign	0.40
R5731:Kit	UTSW	5	75,815,075 (GRCm39)	missense	possibly damaging	0.93
R6270:Kit	UTSW	5	75,770,169 (GRCm39)	missense	probably benign
R6565:Kit	UTSW	5	75,806,513 (GRCm39)	missense	probably damaging	1.00
R6694:Kit	UTSW	5	75,801,417 (GRCm39)	missense	possibly damaging	0.94
R6805:Kit	UTSW	5	75,813,468 (GRCm39)	missense	probably damaging	1.00
R6823:Kit	UTSW	5	75,813,309 (GRCm39)	missense	probably benign	0.01
R6848:Kit	UTSW	5	75,767,872 (GRCm39)	missense	probably benign
R7021:Kit	UTSW	5	75,781,627 (GRCm39)	missense	probably benign	0.00
R7080:Kit	UTSW	5	75,767,941 (GRCm39)	missense	probably damaging	0.99
R7117:Kit	UTSW	5	75,767,758 (GRCm39)	missense	probably benign	0.18
R7156:Kit	UTSW	5	75,776,034 (GRCm39)	missense	probably benign	0.14
R7379:Kit	UTSW	5	75,808,412 (GRCm39)	missense	probably damaging	1.00
R7427:Kit	UTSW	5	75,806,507 (GRCm39)	missense	possibly damaging	0.92
R7438:Kit	UTSW	5	75,799,660 (GRCm39)	missense	probably benign	0.01
R7531:Kit	UTSW	5	75,767,700 (GRCm39)	missense	probably damaging	0.99
R7711:Kit	UTSW	5	75,798,019 (GRCm39)	missense	probably damaging	0.97
R7810:Kit	UTSW	5	75,769,982 (GRCm39)	missense	probably benign	0.11
R7819:Kit	UTSW	5	75,806,592 (GRCm39)	missense	probably benign	0.41
R8021:Kit	UTSW	5	75,776,151 (GRCm39)	missense	possibly damaging	0.79
R8139:Kit	UTSW	5	75,813,465 (GRCm39)	missense	probably damaging	0.99
R8165:Kit	UTSW	5	75,781,540 (GRCm39)	missense	possibly damaging	0.94
R8249:Kit	UTSW	5	75,802,068 (GRCm39)	missense	probably damaging	0.97
R8290:Kit	UTSW	5	75,801,829 (GRCm39)	missense	probably benign
R8829:Kit	UTSW	5	75,799,791 (GRCm39)	missense	probably benign	0.41
R8832:Kit	UTSW	5	75,799,791 (GRCm39)	missense	probably benign	0.41
R8969:Kit	UTSW	5	75,799,722 (GRCm39)	missense
R9081:Kit	UTSW	5	75,801,218 (GRCm39)	missense	probably benign
R9146:Kit	UTSW	5	75,810,305 (GRCm39)	missense	probably damaging	1.00
R9232:Kit	UTSW	5	75,799,792 (GRCm39)	missense	probably benign	0.00
R9631:Kit	UTSW	5	75,767,689 (GRCm39)	missense	possibly damaging	0.95
U24488:Kit	UTSW	5	75,783,674 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCAGTGTTGTACCTCATTCTC -3'
(R):5'- ACTCGCTACCCTGGAATAGG -3'

Sequencing Primer
(F):5'- ACTGAGGTATAAGCCCCATCTTG -3'
(R):5'- CTGGAATAGGATGCAAGTCAAAG -3'

Posted On

2020-07-28