Incidental Mutation 'IGL00823:Kitl'
| ID |
11640 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
IGL00823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
99851492-99936278 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 99923206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020129]
[ENSMUST00000105283]
[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 benign
Transcript: ENSMUST00000105283
|
| SMART Domains |
Protein: ENSMUSP00000100920
Gene: ENSMUSG00000019966
| 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
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,026,381 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,308,758 (GRCm39) |
E39G |
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,571,540 (GRCm39) |
W205* |
probably null |
Het |
| Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
| Arhgef10 |
T |
A |
8: 14,990,378 (GRCm39) |
|
probably benign |
Het |
| Atg5 |
A |
G |
10: 44,239,040 (GRCm39) |
T274A |
probably benign |
Het |
| Baiap2l2 |
G |
T |
15: 79,168,765 (GRCm39) |
|
probably benign |
Het |
| Brap |
T |
A |
5: 121,803,290 (GRCm39) |
M146K |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,298,847 (GRCm39) |
S1074P |
probably benign |
Het |
| Camta1 |
A |
C |
4: 151,169,058 (GRCm39) |
I231R |
probably benign |
Het |
| Ccdc15 |
C |
T |
9: 37,231,709 (GRCm39) |
G205D |
probably benign |
Het |
| Cd6 |
G |
T |
19: 10,773,758 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
G |
4: 11,783,412 (GRCm39) |
S219R |
possibly damaging |
Het |
| Cgn |
G |
A |
3: 94,674,519 (GRCm39) |
R873W |
probably damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,373,322 (GRCm39) |
P41L |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,888 (GRCm39) |
W484R |
probably benign |
Het |
| Dmd |
A |
G |
X: 83,469,419 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
T |
11: 117,937,987 (GRCm39) |
V3347I |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
| Lamc3 |
A |
T |
2: 31,808,533 (GRCm39) |
D763V |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,364,435 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
T |
G |
8: 93,591,598 (GRCm39) |
W81G |
possibly damaging |
Het |
| Myh13 |
A |
G |
11: 67,246,773 (GRCm39) |
I1165V |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,456,343 (GRCm39) |
D599G |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,061,567 (GRCm39) |
N2099S |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,754,985 (GRCm39) |
D77G |
probably benign |
Het |
| Otub1 |
A |
G |
19: 7,181,416 (GRCm39) |
|
probably benign |
Het |
| Pabir2 |
A |
T |
X: 52,334,208 (GRCm39) |
C222S |
probably damaging |
Het |
| Pah |
A |
G |
10: 87,406,193 (GRCm39) |
Y174C |
probably null |
Het |
| Rbbp5 |
G |
A |
1: 132,417,444 (GRCm39) |
V88I |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,155,279 (GRCm39) |
R560H |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,097,485 (GRCm39) |
I217V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,036,016 (GRCm39) |
S3769P |
probably damaging |
Het |
| Tent2 |
T |
C |
13: 93,322,905 (GRCm39) |
T15A |
probably benign |
Het |
| Tmem255b |
T |
C |
8: 13,507,054 (GRCm39) |
M261T |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,705,486 (GRCm39) |
I417T |
probably damaging |
Het |
| Tspan2 |
T |
C |
3: 102,665,549 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,540,057 (GRCm39) |
T34310A |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,643,640 (GRCm39) |
C4334Y |
possibly damaging |
Het |
| Wdpcp |
A |
G |
11: 21,609,995 (GRCm39) |
D21G |
probably damaging |
Het |
| Yy2 |
A |
C |
X: 156,351,207 (GRCm39) |
D186E |
probably benign |
Het |
|
| Other mutations in Kitl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation