Mutagenetix > Incidental Mutation

Incidental Mutation 'R3942:Kit'

312898

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R3942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75735647-75817382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75769978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 130 (D130G)

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: D130G

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

SMART Domains

Protein: ENSMUSP00000005815
Gene: ENSMUSG00000005672
AA Change: D130G

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: D130G

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

SMART Domains

Protein: ENSMUSP00000116465
Gene: ENSMUSG00000005672
AA Change: D130G

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

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,330,908 (GRCm39)	N6049S	probably damaging	Het
Aph1a	C	T	3: 95,801,573 (GRCm39)	R31W	probably damaging	Het
Atp10b	T	C	11: 43,063,581 (GRCm39)	V172A	probably damaging	Het
Atp13a2	T	C	4: 140,733,733 (GRCm39)	S1041P	probably damaging	Het
Best3	T	A	10: 116,824,579 (GRCm39)	F15Y	possibly damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Crb1	A	C	1: 139,265,211 (GRCm39)	L69R	possibly damaging	Het
Crcp	T	C	5: 130,063,791 (GRCm39)		probably null	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Hps3	T	C	3: 20,051,103 (GRCm39)	Y859C	probably damaging	Het
Irx5	C	A	8: 93,086,314 (GRCm39)	N132K	probably damaging	Het
Itgb2	A	G	10: 77,393,867 (GRCm39)	T436A	probably benign	Het
Krt12	A	G	11: 99,312,922 (GRCm39)	S41P	unknown	Het
Lypd6b	G	T	2: 49,833,552 (GRCm39)	S64I	probably damaging	Het
Mpc1	T	A	17: 8,507,420 (GRCm39)		probably null	Het
Or4c109	T	A	2: 88,818,455 (GRCm39)	L30F	probably benign	Het
Or5b95	A	T	19: 12,657,768 (GRCm39)	M99L	probably benign	Het
Pard3b	T	A	1: 62,198,611 (GRCm39)	I233N	probably damaging	Het
Pcdh1	A	G	18: 38,332,511 (GRCm39)	V164A	probably benign	Het
Pclo	A	G	5: 14,729,932 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,455,422 (GRCm39)		probably null	Het
Slco1a7	A	G	6: 141,673,440 (GRCm39)	I366T	probably damaging	Het
Spata31d1d	T	C	13: 59,875,276 (GRCm39)	Q753R	probably benign	Het
Stxbp6	A	G	12: 44,949,641 (GRCm39)		probably null	Het
Trav6-5	T	C	14: 53,728,838 (GRCm39)	S32P	probably benign	Het
Zp3r	A	C	1: 130,504,791 (GRCm39)	D470E	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
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
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'- TTGAAATCCATTGTGTTATTCAAGCT -3'
(R):5'- GGACACAGAGCCGGTGGT -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCTGAGGCG -3'
(R):5'- TGGTAGGCGCGCTTCAC -3'

Posted On

2015-04-30