Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Kit'

528487

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

044812-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75735647-75817382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75801417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 568 (V568A)

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: V572A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: V572A

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: V568A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: V568A

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: ENSMUST00000148993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151357

Meta Mutation Damage Score

0.2265

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

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
Aoc1l2	G	A	6: 48,907,480 (GRCm39)	S160N	probably benign	Het
Arap3	A	C	18: 38,124,590 (GRCm39)		probably null	Het
Arhgap10	A	G	8: 78,137,692 (GRCm39)	F300L	probably benign	Het
Ccdc116	T	C	16: 16,960,655 (GRCm39)	E54G	probably benign	Het
Cd53	T	A	3: 106,674,702 (GRCm39)	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,454,849 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,490,104 (GRCm39)	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,150,617 (GRCm39)		probably null	Het
Exoc1	T	A	5: 76,697,399 (GRCm39)	M392K	probably damaging	Het
Exoc3l	G	C	8: 106,017,122 (GRCm39)	R622G	probably benign	Het
Grid2	C	G	6: 63,908,031 (GRCm39)	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,758,579 (GRCm39)	E16G	probably damaging	Het
Lhx4	T	C	1: 155,580,456 (GRCm39)	S257G	probably benign	Het
Med18	C	T	4: 132,187,293 (GRCm39)	V114I	probably benign	Het
Mrps30	C	T	13: 118,523,497 (GRCm39)	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,712,452 (GRCm39)	V645I	probably benign	Het
Nuak2	T	G	1: 132,260,048 (GRCm39)	S609A	probably damaging	Het
Or2y1g	A	T	11: 49,171,379 (GRCm39)	I135F	probably benign	Het
Plk4	T	C	3: 40,756,263 (GRCm39)	V58A	probably damaging	Het
Polq	T	A	16: 36,835,535 (GRCm39)	F145L	probably null	Het
Rab11fip2	T	C	19: 59,925,707 (GRCm39)	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,657,865 (GRCm39)	V246A	probably benign	Het
Rc3h2	A	G	2: 37,290,555 (GRCm39)	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Sae1	G	T	7: 16,102,461 (GRCm39)	A171E	probably damaging	Het
Semp2l2b	T	C	10: 21,943,620 (GRCm39)	E120G	probably damaging	Het
Setd5	T	A	6: 113,120,669 (GRCm39)	N959K	probably benign	Het
Siae	T	A	9: 37,528,119 (GRCm39)	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311 (GRCm39)	G51D	probably damaging	Het
Slc5a11	A	G	7: 122,867,012 (GRCm39)	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,264,447 (GRCm39)	S470P	probably damaging	Het
Timd2	A	T	11: 46,561,779 (GRCm39)	C288*	probably null	Het
Timeless	T	G	10: 128,075,868 (GRCm39)		probably null	Het
Ubxn8	G	T	8: 34,111,572 (GRCm39)	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,965,276 (GRCm39)	E373G	probably benign	Het
Zap70	A	G	1: 36,821,598 (GRCm39)	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,419,446 (GRCm39)	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,634,559 (GRCm39)	A383V	probably damaging	Het
Zfp93	A	T	7: 23,975,338 (GRCm39)	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,263,610 (GRCm39)	Y76N	probably 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
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
R8288:Kit	UTSW	5	75,815,149 (GRCm39)	missense	probably damaging	1.00
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'- GGATCATTGTGATGGTGCTCAC -3'
(R):5'- TGTGCAGTTTGACAGAAAGC -3'

Sequencing Primer
(F):5'- GTGCTCACCTACAAATATTTGCAG -3'
(R):5'- GCCTGTTTCTGGGAAACT -3'

Posted On

2018-07-24