Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Kitl'

374998

Institutional Source

Beutler Lab

Gene Symbol

Kitl

Ensembl Gene

ENSMUSG00000019966

Gene Name

kit ligand

Synonyms

blz, Mgf, SLF, SF, Kitlg, Steel factor, stem cell factor, Steel, Sl, SCF, Gb, grizzle-belly

MMRRC Submission

042486-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R4877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99851492-99936278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99916728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 177 (V177A)

Ref Sequence

ENSEMBL: ENSMUSP00000100920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020129] [ENSMUST00000105283] [ENSMUST00000130190] [ENSMUST00000218200]

AlphaFold

P20826

Predicted Effect

probably benign
Transcript: ENSMUST00000020129

SMART Domains

Protein: ENSMUSP00000020129
Gene: ENSMUSG00000019966

Domain	Start	End	E-Value	Type
Pfam:SCF	1	176	5.7e-102	PFAM
Pfam:SCF	173	245	1.7e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105283
AA Change: V177A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100920
Gene: ENSMUSG00000019966
AA Change: V177A

Domain	Start	End	E-Value	Type
Pfam:SCF	1	273	2.3e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130190

SMART Domains

Protein: ENSMUSP00000123360
Gene: ENSMUSG00000019966

Domain	Start	End	E-Value	Type
Pfam:SCF	43	160	1.1e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218200

Meta Mutation Damage Score

0.3178

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene affect migration of embryonic stem cells and cause similar phenotypes to mutations in its receptor gene (Kit). Mutants show mild to severe defects in pigmentation, hemopoiesis and reproduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,421 (GRCm39)	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,787 (GRCm39)	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,429,982 (GRCm39)		probably null	Het
Atp7b	T	A	8: 22,518,617 (GRCm39)	I74F	probably damaging	Het
Bod1l	A	G	5: 41,977,337 (GRCm39)	Y1326H	probably benign	Het
Card11	T	C	5: 140,871,632 (GRCm39)	S690G	probably damaging	Het
Cbx3	A	G	6: 51,459,540 (GRCm39)	E169G	possibly damaging	Het
Cd28	A	T	1: 60,808,861 (GRCm39)	M192L	possibly damaging	Het
Chd6	T	C	2: 160,871,219 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,866,056 (GRCm39)	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,151,457 (GRCm39)	V252E	probably damaging	Het
Dcp2	G	T	18: 44,550,659 (GRCm39)	G378C	probably benign	Het
Dip2b	A	T	15: 100,058,410 (GRCm39)	I196L	possibly damaging	Het
Erbin	G	A	13: 103,987,346 (GRCm39)	P405S	probably damaging	Het
Etv1	A	G	12: 38,881,292 (GRCm39)		probably null	Het
F830104G03Rik	T	G	3: 56,797,917 (GRCm39)	K33T	unknown	Het
Fbln2	C	A	6: 91,210,477 (GRCm39)	H140Q	probably damaging	Het
Fxr1	A	G	3: 34,101,847 (GRCm39)	T109A	probably damaging	Het
Gm10110	T	C	14: 90,134,785 (GRCm39)		noncoding transcript	Het
Gm9949	C	T	18: 62,317,140 (GRCm39)		probably benign	Het
Grin2d	A	G	7: 45,504,039 (GRCm39)	L604P	probably damaging	Het
Gstcd	A	T	3: 132,711,314 (GRCm39)		probably benign	Het
Ifna16	A	G	4: 88,594,681 (GRCm39)	V138A	probably benign	Het
Itpr2	T	A	6: 146,226,703 (GRCm39)	N1314I	probably damaging	Het
L3mbtl1	A	T	2: 162,790,488 (GRCm39)	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,766,092 (GRCm39)	N232I	probably benign	Het
Lnx1	T	C	5: 74,788,784 (GRCm39)	R111G	probably benign	Het
Lrrc41	A	G	4: 115,936,602 (GRCm39)	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,069,899 (GRCm39)	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,731,936 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,857,734 (GRCm39)	Y2508N	probably damaging	Het
Masp2	A	T	4: 148,687,328 (GRCm39)	Y70F	probably benign	Het
Mc4r	T	C	18: 66,992,409 (GRCm39)	I235V	probably benign	Het
Med12l	G	A	3: 59,152,214 (GRCm39)	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,357,712 (GRCm39)	H20R	probably benign	Het
Ms4a1	A	T	19: 11,231,857 (GRCm39)	S173T	probably damaging	Het
Myh13	A	C	11: 67,228,477 (GRCm39)	D339A	probably damaging	Het
Nars1	A	T	18: 64,633,643 (GRCm39)	Y542*	probably null	Het
Nectin2	G	A	7: 19,451,645 (GRCm39)	T463I	possibly damaging	Het
Nrg4	A	G	9: 55,166,679 (GRCm39)	F64L	probably benign	Het
Nrxn1	T	A	17: 91,395,605 (GRCm39)	I184F	probably benign	Het
Nxph2	C	T	2: 23,289,846 (GRCm39)	P66L	probably benign	Het
Or10ag2	C	T	2: 87,248,907 (GRCm39)	Q170*	probably null	Het
Or2v1	C	A	11: 49,025,608 (GRCm39)	F196L	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Patj	A	G	4: 98,457,295 (GRCm39)	I48V	possibly damaging	Het
Paxbp1	T	C	16: 90,841,199 (GRCm39)		probably benign	Het
Pou2f3	A	T	9: 43,050,618 (GRCm39)	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 37,026,214 (GRCm39)	D17G	probably damaging	Het
Rgs8	A	G	1: 153,568,633 (GRCm39)		probably benign	Het
Rnd3	A	G	2: 51,038,762 (GRCm39)	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,263,620 (GRCm39)	R247G	probably benign	Het
Sec31b	A	T	19: 44,524,172 (GRCm39)	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,833,702 (GRCm39)	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,599,622 (GRCm39)	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,850,337 (GRCm39)	L597P	probably damaging	Het
Srr	G	T	11: 74,798,606 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgif1	A	C	17: 71,156,700 (GRCm39)		probably null	Het
Tle3	A	T	9: 61,280,781 (GRCm39)		probably benign	Het
Tubgcp4	A	G	2: 121,020,343 (GRCm39)	T439A	probably benign	Het
Twist1	C	T	12: 34,008,350 (GRCm39)	T125M	probably damaging	Het
Unc13a	T	A	8: 72,111,260 (GRCm39)	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,955,407 (GRCm39)		noncoding transcript	Het
Vps72	G	T	3: 95,025,498 (GRCm39)		probably benign	Het
Zfp184	T	C	13: 22,144,498 (GRCm39)	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,748,725 (GRCm39)	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,353,251 (GRCm39)	H678R	probably damaging	Het

Other mutations in Kitl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Kitl	APN	10	99,923,206 (GRCm39)	splice site	probably benign
IGL02066:Kitl	APN	10	99,912,744 (GRCm39)	missense	probably damaging	1.00
IGL03211:Kitl	APN	10	99,916,721 (GRCm39)	missense	probably benign	0.19
Gregory	UTSW	10	99,912,768 (GRCm39)	critical splice donor site	probably null
mooyah	UTSW	10	99,924,084 (GRCm39)	critical splice donor site	probably null
Sandycheeks	UTSW	10	99,912,768 (GRCm39)	critical splice donor site	probably null
R0131:Kitl	UTSW	10	99,923,226 (GRCm39)	missense	probably benign	0.11
R0131:Kitl	UTSW	10	99,923,226 (GRCm39)	missense	probably benign	0.11
R0132:Kitl	UTSW	10	99,923,226 (GRCm39)	missense	probably benign	0.11
R1554:Kitl	UTSW	10	99,923,300 (GRCm39)	missense	probably benign	0.38
R1649:Kitl	UTSW	10	99,899,976 (GRCm39)	missense	probably benign	0.03
R2194:Kitl	UTSW	10	99,851,899 (GRCm39)	critical splice donor site	probably null
R2254:Kitl	UTSW	10	99,915,993 (GRCm39)	critical splice donor site	probably null
R5135:Kitl	UTSW	10	99,924,084 (GRCm39)	critical splice donor site	probably null
R5453:Kitl	UTSW	10	99,923,247 (GRCm39)	missense	probably damaging	1.00
R5564:Kitl	UTSW	10	99,915,886 (GRCm39)	missense	possibly damaging	0.89
R5832:Kitl	UTSW	10	99,915,882 (GRCm39)	missense	probably damaging	1.00
R5971:Kitl	UTSW	10	99,912,768 (GRCm39)	critical splice donor site	probably null
R6043:Kitl	UTSW	10	99,899,947 (GRCm39)	missense	probably damaging	1.00
R6067:Kitl	UTSW	10	99,912,768 (GRCm39)	critical splice donor site	probably null
R6138:Kitl	UTSW	10	99,912,768 (GRCm39)	critical splice donor site	probably null
R6255:Kitl	UTSW	10	99,925,095 (GRCm39)	makesense	probably null
R6450:Kitl	UTSW	10	99,923,256 (GRCm39)	start codon destroyed	probably null	0.00
R6588:Kitl	UTSW	10	99,899,954 (GRCm39)	missense	probably damaging	1.00
R6951:Kitl	UTSW	10	99,887,714 (GRCm39)	missense	probably damaging	1.00
R7315:Kitl	UTSW	10	99,851,974 (GRCm39)	missense	unknown
R7368:Kitl	UTSW	10	99,851,943 (GRCm39)	missense	probably benign	0.02
R8010:Kitl	UTSW	10	99,887,765 (GRCm39)	missense	probably benign	0.22
R8234:Kitl	UTSW	10	99,887,708 (GRCm39)	missense	probably damaging	1.00
R9613:Kitl	UTSW	10	99,916,781 (GRCm39)	missense	probably damaging	1.00
U15987:Kitl	UTSW	10	99,912,768 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATCTCTTGACAAAACTGAGCAGC -3'
(R):5'- GAGATCCGATTCTCCAAACCAG -3'

Sequencing Primer
(F):5'- TCTTGACAAAACTGAGCAGCTGAAC -3'
(R):5'- TCCAAACCAGATATTTAATTGTCAGG -3'

Posted On

2016-03-17