Mutagenetix > Incidental Mutation

Incidental Mutation 'R4376:Kit'

325097

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

041120-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4376 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75735647-75817382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75801159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 515 (I515T)

Ref Sequence

ENSEMBL: ENSMUSP00000116465 (fasta)

Gene Model

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

AlphaFold

P05532

Predicted Effect

probably benign
Transcript: ENSMUST00000005815
AA Change: I519T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: I519T

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

probably benign
Transcript: ENSMUST00000144270
AA Change: I515T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: I515T

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

0.0597

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,314,238 (GRCm39)	S683P	probably benign	Het
Adgrg6	G	A	10: 14,344,794 (GRCm39)	T53M	probably damaging	Het
Atp10d	T	C	5: 72,454,318 (GRCm39)	L189P	probably damaging	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Eaf2	A	G	16: 36,620,998 (GRCm39)	L184P	unknown	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam83e	A	T	7: 45,373,317 (GRCm39)	S228C	probably damaging	Het
Gon4l	C	A	3: 88,814,694 (GRCm39)	P1888T	probably benign	Het
Kmt2c	C	T	5: 25,520,324 (GRCm39)	V1929I	probably benign	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Mlh3	C	A	12: 85,305,972 (GRCm39)	R1175L	probably benign	Het
Mrps2	T	C	2: 28,358,871 (GRCm39)	S67P	probably benign	Het
Nlrp12	A	G	7: 3,289,576 (GRCm39)	L312P	possibly damaging	Het
Or13f5	A	T	4: 52,826,195 (GRCm39)	N266I	possibly damaging	Het
Or4c122	T	C	2: 89,079,589 (GRCm39)	R150G	possibly damaging	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	Het
Pank1	C	T	19: 34,855,104 (GRCm39)	V4I	probably benign	Het
Pdia4	G	A	6: 47,775,326 (GRCm39)	R495W	probably damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Plce1	T	C	19: 38,693,891 (GRCm39)		probably null	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prcc	A	G	3: 87,774,714 (GRCm39)	Y363H	probably damaging	Het
Rictor	T	C	15: 6,816,448 (GRCm39)	V1240A	probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Steep1	C	A	X: 36,087,812 (GRCm39)	C206F	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsnaxip1	C	A	8: 106,568,433 (GRCm39)	C372*	probably null	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	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
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
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'- GGTTCTAGTCCTAGCACCAAG -3'
(R):5'- GTGTCACCCGCTGAACAATC -3'

Sequencing Primer
(F):5'- TCCTAGCACCAAGAATAAATGTAGG -3'
(R):5'- GAACAATCAGTGCCTGCCCTG -3'

Posted On

2015-07-06