Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Kitl'

500134

Institutional Source

Beutler Lab

Gene Symbol

Kitl

Ensembl Gene

ENSMUSG00000019966

Gene Name

kit ligand

Synonyms

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

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R0131 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

100015630-100100416 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100087364 bp (GRCm38)

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: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,137,615	R320G	probably damaging	Het
Abca8b	T	A	11: 109,942,289	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 86,531,568	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,342,723	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,502,995		probably benign	Het
Anxa5	G	A	3: 36,450,672	A247V	probably damaging	Het
Arntl2	C	A	6: 146,828,103	H471N	probably benign	Het
Ascc3	T	G	10: 50,735,329	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,793,782	P389S	probably damaging	Het
Bicd1	A	G	6: 149,512,947	E386G	probably damaging	Het
Bpifa6	T	A	2: 153,982,931	S9T	probably benign	Het
Cacna1c	T	C	6: 118,625,512	I1428V	probably damaging	Het
Chd8	A	G	14: 52,205,326	V589A	probably benign	Het
Chrnb2	T	C	3: 89,764,406	M1V	probably null	Het
Cldnd1	T	C	16: 58,732,992	L232P	probably damaging	Het
Col16a1	T	A	4: 130,067,096	V449E	unknown	Het
Col3a1	T	A	1: 45,328,868		probably benign	Het
Cttnbp2nl	T	G	3: 105,005,857	K237T	probably damaging	Het
Cyc1	G	A	15: 76,344,959	V142I	probably benign	Het
Dapk3	A	G	10: 81,192,307	T265A	probably benign	Het
Ddx21	A	T	10: 62,584,752	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,138,649	L1735Q	probably damaging	Het
Dse	A	G	10: 34,153,664	Y341H	probably damaging	Het
Elmod2	A	G	8: 83,319,504	I148T	probably damaging	Het
Fam187b	T	A	7: 30,989,120	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659	D98G	probably damaging	Het
Fcrls	A	G	3: 87,258,959	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,991,121	D5733N	probably benign	Het
Gbe1	T	C	16: 70,360,852		probably benign	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm4788	T	A	1: 139,754,271	T196S	probably damaging	Het
Gm6327	T	C	16: 12,761,045		noncoding transcript	Het
Gm9745	T	A	13: 8,940,527		probably benign	Het
H2-T24	T	A	17: 36,014,986	I238F	probably damaging	Het
Hectd4	A	G	5: 121,333,024	E2658G	probably benign	Het
Herc1	A	C	9: 66,480,910	I3826L	probably benign	Het
Hinfp	A	G	9: 44,299,763	C67R	probably damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Hspg2	T	C	4: 137,551,887	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,926,728	V67A	probably damaging	Het
Iqcc	T	G	4: 129,616,599	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,326,198	T120A	probably damaging	Het
Kmt2b	A	T	7: 30,583,921	C296S	probably damaging	Het
Lgals4	A	G	7: 28,834,232		probably null	Het
Lpcat4	A	G	2: 112,246,748	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,553,152	N227S	probably damaging	Het
Mdc1	T	A	17: 35,852,581	V1007D	probably damaging	Het
Mocos	T	G	18: 24,679,762	I571S	probably benign	Het
Myh8	A	G	11: 67,292,188	N659D	probably damaging	Het
Mylk	T	C	16: 34,875,504	V203A	probably benign	Het
Myom2	A	G	8: 15,083,329	N407S	probably damaging	Het
Naip2	A	G	13: 100,183,788	V240A	probably benign	Het
Nap1l1	T	C	10: 111,485,509	S37P	probably benign	Het
Nin	T	G	12: 70,051,141	K515T	probably damaging	Het
Npl	T	A	1: 153,509,118	K258*	probably null	Het
Ntn4	T	A	10: 93,644,707	S98T	possibly damaging	Het
Olfr1037	T	C	2: 86,085,500	I92M	probably damaging	Het
Olfr177	C	A	16: 58,872,906	M81I	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr417	T	C	1: 174,369,586	V223A	probably damaging	Het
Olfr720	T	C	14: 14,175,620	D154G	probably benign	Het
Pate3	A	G	9: 35,646,157	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,170,608	D106G	probably null	Het
Ppox	C	A	1: 171,279,275	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,713,653	L1380S	probably benign	Het
Proc	C	T	18: 32,135,898	M11I	probably benign	Het
Psd4	C	A	2: 24,405,351	A839E	probably damaging	Het
Psg21	A	G	7: 18,654,868	Y100H	probably benign	Het
Pten	T	A	19: 32,776,069	V45E	probably benign	Het
Ptprn2	T	G	12: 116,722,091	F57V	probably damaging	Het
Ptprt	C	T	2: 162,278,110	V146I	probably benign	Het
R3hdm2	T	A	10: 127,498,453	M915K	probably damaging	Het
Rab26	C	T	17: 24,530,785		probably null	Het
Rab7b	T	C	1: 131,698,555	L107P	probably damaging	Het
Rbm47	T	A	5: 66,026,529	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,605,344	G122C	probably damaging	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Rprd2	T	C	3: 95,774,361	K407E	probably damaging	Het
Siah3	G	A	14: 75,456,134	V27I	possibly damaging	Het
Slc12a3	G	A	8: 94,340,883		probably benign	Het
Slc14a2	T	A	18: 78,192,123	N280Y	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,971,960	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,705,530	D55G	probably benign	Het
Slc35d1	C	T	4: 103,208,181	V189I	probably benign	Het
Spg11	T	C	2: 122,070,968	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,340,573	R322*	probably null	Het
Stac3	A	T	10: 127,503,650	R138S	probably damaging	Het
Tet3	C	G	6: 83,368,788	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,132,816	S693P	probably benign	Het
Tmcc2	C	T	1: 132,380,706	G150D	probably benign	Het
Tmem216	T	C	19: 10,554,606	Y44C	probably damaging	Het
Tmem260	T	A	14: 48,483,322	C306*	probably null	Het
Tspyl1	A	G	10: 34,283,089	N270S	probably damaging	Het
Ubr4	A	G	4: 139,464,051	T4127A	possibly damaging	Het
Ugt2a2	T	A	5: 87,474,861	K293*	probably null	Het
Vmn2r102	A	C	17: 19,678,763	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,712,249	S139R	probably benign	Het
Wrnip1	G	A	13: 32,806,864	V369I	probably damaging	Het
Zc3h12c	T	A	9: 52,126,623	I305F	possibly damaging	Het
Zmym2	A	G	14: 56,943,258	N876D	probably benign	Het

Other mutations in Kitl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Kitl	APN	10	100087344	splice site	probably benign
IGL02066:Kitl	APN	10	100076882	missense	probably damaging	1.00
IGL03211:Kitl	APN	10	100080859	missense	probably benign	0.19
Gregory	UTSW	10	100076906	critical splice donor site	probably null
mooyah	UTSW	10	100088222	critical splice donor site	probably null
Sandycheeks	UTSW	10	100076906	critical splice donor site	probably null
R0131:Kitl	UTSW	10	100087364	missense	probably benign	0.11
R0132:Kitl	UTSW	10	100087364	missense	probably benign	0.11
R1554:Kitl	UTSW	10	100087438	missense	probably benign	0.38
R1649:Kitl	UTSW	10	100064114	missense	probably benign	0.03
R2194:Kitl	UTSW	10	100016037	critical splice donor site	probably null
R2254:Kitl	UTSW	10	100080131	critical splice donor site	probably null
R4877:Kitl	UTSW	10	100080866	missense	probably damaging	1.00
R5135:Kitl	UTSW	10	100088222	critical splice donor site	probably null
R5453:Kitl	UTSW	10	100087385	missense	probably damaging	1.00
R5564:Kitl	UTSW	10	100080024	missense	possibly damaging	0.89
R5832:Kitl	UTSW	10	100080020	missense	probably damaging	1.00
R5971:Kitl	UTSW	10	100076906	critical splice donor site	probably null
R6043:Kitl	UTSW	10	100064085	missense	probably damaging	1.00
R6067:Kitl	UTSW	10	100076906	critical splice donor site	probably null
R6138:Kitl	UTSW	10	100076906	critical splice donor site	probably null
R6255:Kitl	UTSW	10	100089233	makesense	probably null
R6450:Kitl	UTSW	10	100087394	start codon destroyed	probably null	0.00
R6588:Kitl	UTSW	10	100064092	missense	probably damaging	1.00
R6951:Kitl	UTSW	10	100051852	missense	probably damaging	1.00
R7315:Kitl	UTSW	10	100016112	missense	unknown
R7368:Kitl	UTSW	10	100016081	missense	probably benign	0.02
R8010:Kitl	UTSW	10	100051903	missense	probably benign	0.22
R8234:Kitl	UTSW	10	100051846	missense	probably damaging	1.00
R9613:Kitl	UTSW	10	100080919	missense	probably damaging	1.00
U15987:Kitl	UTSW	10	100076906	critical splice donor site	probably null

Predicted Primers

Posted On

2017-12-01