Incidental Mutation 'R6951:Kitl'
| ID |
541277 |
| 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 |
045063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R6951 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
99851492-99936278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99887714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 48
(I48V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020129]
[ENSMUST00000105283]
[ENSMUST00000130190]
[ENSMUST00000218200]
|
| AlphaFold |
P20826 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020129
AA Change: I8V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020129
Gene: ENSMUSG00000019966
AA Change: I8V
| 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: I8V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100920
Gene: ENSMUSG00000019966
AA Change: I8V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCF
|
1 |
273 |
2.3e-157 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130190
AA Change: I48V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123360
Gene: ENSMUSG00000019966
AA Change: I48V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCF
|
43 |
160 |
1.1e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218200
|
| Meta Mutation Damage Score |
0.2009 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| Ankrd34a |
A |
G |
3: 96,505,738 (GRCm39) |
N314S |
possibly damaging |
Het |
| Arhgef3 |
A |
T |
14: 26,865,975 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,746,298 (GRCm39) |
R114G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,989 (GRCm39) |
L2097P |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,840 (GRCm39) |
V174A |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnase2a |
A |
T |
8: 85,636,254 (GRCm39) |
N130I |
possibly damaging |
Het |
| Dpp10 |
C |
T |
1: 123,269,379 (GRCm39) |
V677M |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,351,622 (GRCm39) |
C147Y |
possibly damaging |
Het |
| Ecpas |
A |
G |
4: 58,853,114 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,287,750 (GRCm39) |
T223A |
probably benign |
Het |
| Fndc5 |
G |
A |
4: 129,032,573 (GRCm39) |
V59I |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,293 (GRCm39) |
T2871A |
possibly damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,124,757 (GRCm39) |
I589V |
probably benign |
Het |
| Large1 |
A |
G |
8: 73,843,047 (GRCm39) |
S159P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,653,180 (GRCm39) |
L2570P |
probably benign |
Het |
| Mag |
G |
A |
7: 30,610,858 (GRCm39) |
T128I |
possibly damaging |
Het |
| Mkrn3 |
G |
T |
7: 62,068,881 (GRCm39) |
D303E |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,051 (GRCm39) |
D1951G |
probably damaging |
Het |
| Nup85 |
C |
T |
11: 115,473,781 (GRCm39) |
T565I |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,323 (GRCm39) |
I85V |
possibly damaging |
Het |
| Or8b1d |
A |
G |
9: 38,558,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,234 (GRCm39) |
D22G |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,355,993 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,131,153 (GRCm39) |
|
probably null |
Het |
| Picalm |
T |
A |
7: 89,840,583 (GRCm39) |
N434K |
probably damaging |
Het |
| Platr25 |
A |
C |
13: 62,853,562 (GRCm39) |
D77E |
probably benign |
Het |
| Prr22 |
A |
T |
17: 57,079,028 (GRCm39) |
R394* |
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,636 (GRCm39) |
L57Q |
probably damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,375,774 (GRCm39) |
S44L |
possibly damaging |
Het |
| Rffl |
A |
G |
11: 82,736,576 (GRCm39) |
|
probably null |
Het |
| Stox2 |
G |
A |
8: 47,656,167 (GRCm39) |
T103I |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,273,019 (GRCm39) |
N543S |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,071,370 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,165,767 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Tssk5 |
C |
A |
15: 76,257,096 (GRCm39) |
R262L |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,710,986 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,873 (GRCm39) |
I134F |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,687,670 (GRCm39) |
F2351S |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,104 (GRCm39) |
D688E |
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 |
|
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 |
|
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'- TCTCATTTCAGTTTGGCGAGAG -3'
(R):5'- GGAGTGCCCTAAATCTATGTGG -3'
Sequencing Primer
(F):5'- ccGCAGCTCTGGTATATTT -3'
(R):5'- GCCCTAAATCTATGTGGTCAGCAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation