Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Kitl'

68300

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

038416-MU

Accession Numbers

Essential gene?

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

Stock #

R0131 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

99851492-99936278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99923226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 208 (P208S)

Ref Sequence

ENSEMBL: ENSMUSP00000100920 (fasta)

Gene Model

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

AlphaFold

P20826

Predicted Effect

probably benign
Transcript: ENSMUST00000020129
AA Change: P180S

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020129
Gene: ENSMUSG00000019966
AA Change: P180S

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: P208S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100920
Gene: ENSMUSG00000019966
AA Change: P208S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219881

Meta Mutation Damage Score

0.1396

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Dazap1	T	G	10: 80,114,060 (GRCm39)		probably null	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Fat2	A	T	11: 55,164,037 (GRCm39)	S3073T	probably benign	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Gm16069	T	C	3: 89,088,232 (GRCm39)		probably benign	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kif3a	A	G	11: 53,477,743 (GRCm39)	K404R	possibly damaging	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pkp2	T	C	16: 16,058,577 (GRCm39)		probably benign	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tbc1d9b	T	C	11: 50,026,751 (GRCm39)	I73T	probably benign	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc3	T	C	10: 94,381,437 (GRCm39)		probably benign	Het
Tmem116	A	G	5: 121,631,845 (GRCm39)		probably benign	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Tusc1	A	T	4: 93,223,070 (GRCm39)	H196Q	probably benign	Het
Ugt2a1	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zfp879	C	A	11: 50,724,426 (GRCm39)	G210V	probably damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	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
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
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'- TGGACTTACACTGCTTGCAGAAACA -3'
(R):5'- GCACAATGGTGGACACTTCCCT -3'

Sequencing Primer
(F):5'- CACTGCTTGCAGAAACAAAATTG -3'
(R):5'- AACGTTTGAATTTCTTTGAGGCCC -3'

Posted On

2013-09-03