Mutagenetix > Incidental Mutation

Incidental Mutation 'R1649:Kitl'

174112

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

039685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99851492-99936278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99899976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000123360 (fasta)

Gene Model

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

AlphaFold

P20826

Predicted Effect

probably benign
Transcript: ENSMUST00000020129
AA Change: T54A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020129
Gene: ENSMUSG00000019966
AA Change: T54A

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 benign
Transcript: ENSMUST00000105283
AA Change: T54A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100920
Gene: ENSMUSG00000019966
AA Change: T54A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130190
AA Change: T94A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123360
Gene: ENSMUSG00000019966
AA Change: T94A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218200

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1a1	T	A	4: 116,495,217 (GRCm39)	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,541,371 (GRCm39)	V255A	probably benign	Het
Ambn	T	A	5: 88,612,340 (GRCm39)	M172K	probably benign	Het
Arhgef18	A	G	8: 3,439,094 (GRCm39)		probably benign	Het
BC034090	T	C	1: 155,101,319 (GRCm39)	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,959,122 (GRCm39)	D707E	probably benign	Het
C6	T	C	15: 4,764,739 (GRCm39)	L145P	possibly damaging	Het
Cav3	T	A	6: 112,449,207 (GRCm39)	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,339,939 (GRCm39)	D205E	probably benign	Het
Cdadc1	T	C	14: 59,811,242 (GRCm39)	T423A	probably damaging	Het
Cep120	A	T	18: 53,857,648 (GRCm39)	H272Q	probably damaging	Het
Chd9	A	T	8: 91,659,229 (GRCm39)	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,460,228 (GRCm39)		probably benign	Het
Cramp1	G	T	17: 25,202,217 (GRCm39)	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,966,943 (GRCm39)	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,158,366 (GRCm39)	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,545,663 (GRCm39)		probably benign	Het
Ern2	G	A	7: 121,776,623 (GRCm39)	P366S	probably damaging	Het
Gm1527	T	C	3: 28,952,880 (GRCm39)	I60T	probably damaging	Het
Gse1	T	C	8: 121,305,254 (GRCm39)		probably benign	Het
Ildr1	T	C	16: 36,528,681 (GRCm39)	L42P	probably damaging	Het
Itih2	G	A	2: 10,110,546 (GRCm39)	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309 (GRCm39)	P357Q	probably damaging	Het
Klri1	C	T	6: 129,675,204 (GRCm39)	M185I	probably benign	Het
Lsamp	A	T	16: 41,775,661 (GRCm39)	M171L	probably benign	Het
Macf1	T	G	4: 123,377,846 (GRCm39)	I1460L	probably damaging	Het
Map1b	C	G	13: 99,652,986 (GRCm39)	V4L	probably benign	Het
Mboat7	A	T	7: 3,688,817 (GRCm39)	V237D	probably benign	Het
Mctp2	A	T	7: 71,811,006 (GRCm39)	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,497,806 (GRCm39)	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,830,301 (GRCm39)	I205N	probably damaging	Het
Nsd2	T	C	5: 34,011,984 (GRCm39)	V264A	probably damaging	Het
Oacyl	C	T	18: 65,883,167 (GRCm39)	T582I	probably damaging	Het
Olfm1	A	T	2: 28,119,279 (GRCm39)	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,249,422 (GRCm39)	E180K	probably damaging	Het
Or14j6	T	C	17: 38,215,060 (GRCm39)	F208L	probably benign	Het
Or2ad1	A	T	13: 21,326,912 (GRCm39)	L105Q	probably damaging	Het
Or8g17	T	G	9: 38,930,776 (GRCm39)	Q20H	probably benign	Het
Parp4	T	A	14: 56,827,885 (GRCm39)	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,648,666 (GRCm39)	N598K	probably damaging	Het
Piezo2	C	A	18: 63,250,743 (GRCm39)	W452L	probably benign	Het
Plec	C	A	15: 76,090,011 (GRCm39)	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,191,320 (GRCm39)	Y144H	probably damaging	Het
Ptgdr	T	C	14: 45,095,959 (GRCm39)	H251R	probably benign	Het
Ptpro	T	A	6: 137,421,015 (GRCm39)	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,726,573 (GRCm39)	D247G	probably damaging	Het
Robo2	T	C	16: 73,695,889 (GRCm39)	E1418G	probably benign	Het
Rtp3	T	C	9: 110,815,772 (GRCm39)	T198A	probably benign	Het
Sec16a	A	T	2: 26,315,536 (GRCm39)	V1767D	probably damaging	Het
Septin14	T	C	5: 129,774,819 (GRCm39)	N119D	probably benign	Het
Serpina5	A	T	12: 104,071,484 (GRCm39)	T364S	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,716,348 (GRCm39)	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,586,010 (GRCm39)	G443C	probably damaging	Het
Spag9	T	A	11: 93,999,278 (GRCm39)		probably null	Het
Sptbn1	T	C	11: 30,087,301 (GRCm39)	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,237,540 (GRCm39)	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,587,103 (GRCm39)	T184S	probably damaging	Het
Tpi1	A	T	6: 124,789,891 (GRCm39)		probably null	Het
Tssk5	T	C	15: 76,258,003 (GRCm39)	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,736,629 (GRCm39)	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,969,788 (GRCm39)	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,049,623 (GRCm39)	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,829,224 (GRCm39)	V927E	probably damaging	Het
Zfp618	T	C	4: 63,013,774 (GRCm39)	F213S	probably damaging	Het
Zfp759	T	A	13: 67,287,668 (GRCm39)	N406K	probably benign	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
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
R4877:Kitl	UTSW	10	99,916,728 (GRCm39)	missense	probably damaging	1.00
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'- AGTGGATTGACAACCCAAGCACTG -3'
(R):5'- ACATTCAAGCCCCTTTGAGAGTTGC -3'

Sequencing Primer
(F):5'- TGACAACCCAAGCACTGTATATTG -3'
(R):5'- CCCCTTTGAGAGTTGCAGAGAG -3'

Posted On

2014-04-24