Incidental Mutation 'R5693:Tyro3'
| ID |
443753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyro3
|
| Ensembl Gene |
ENSMUSG00000027298 |
| Gene Name |
TYRO3 protein tyrosine kinase 3 |
| Synonyms |
Sky, Etk-2, Tif, Rse, Brt, Sky, Dtk |
| MMRRC Submission |
043180-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5693 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119628221-119648585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 119641349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 519
(F519L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028763]
[ENSMUST00000110783]
|
| AlphaFold |
P55144 |
| PDB Structure |
Inhibitor bound structure of the kinase domain of the murine receptor tyrosine kinase TYRO3 (Sky) [X-RAY DIFFRACTION]
Inhibitor bound structure of the kinase domain of the murine receptor tyrosine kinase TYRO3 (Sky) [X-RAY DIFFRACTION]
Inhibitor bound structure of the kinase domain of the murine receptor tyrosine kinase TYRO3 (Sky) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028763
AA Change: F519L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: F519L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IGc2
|
45 |
114 |
1.29e-15 |
SMART |
|
IG
|
135 |
212 |
1.3e-2 |
SMART |
|
FN3
|
215 |
297 |
1.5e-5 |
SMART |
|
FN3
|
313 |
393 |
1.9e0 |
SMART |
|
transmembrane domain
|
419 |
441 |
N/A |
INTRINSIC |
|
TyrKc
|
508 |
776 |
1.18e-125 |
SMART |
|
low complexity region
|
817 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110783
AA Change: F515L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: F515L
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
41 |
110 |
1.29e-15 |
SMART |
|
IG
|
131 |
208 |
1.3e-2 |
SMART |
|
FN3
|
211 |
293 |
1.5e-5 |
SMART |
|
FN3
|
309 |
389 |
1.9e0 |
SMART |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
TyrKc
|
504 |
772 |
1.18e-125 |
SMART |
|
low complexity region
|
813 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
871 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147761
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity, and aberrant apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,266,233 (GRCm39) |
I3071V |
probably benign |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Abr |
T |
C |
11: 76,354,403 (GRCm39) |
N236S |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,501,870 (GRCm39) |
Y248C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Chd6 |
A |
T |
2: 160,807,185 (GRCm39) |
S2010T |
probably benign |
Het |
| Dcc |
G |
A |
18: 71,708,153 (GRCm39) |
T521I |
probably damaging |
Het |
| Dmrtb1 |
G |
A |
4: 107,541,366 (GRCm39) |
|
probably benign |
Het |
| Evc |
A |
G |
5: 37,477,584 (GRCm39) |
V365A |
possibly damaging |
Het |
| Gata4 |
A |
G |
14: 63,478,594 (GRCm39) |
Y2H |
probably damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,621 (GRCm39) |
N437S |
probably damaging |
Het |
| Lifr |
T |
C |
15: 7,205,041 (GRCm39) |
V426A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,737,320 (GRCm39) |
I122M |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,597,181 (GRCm39) |
N3174D |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,173,462 (GRCm39) |
R534H |
probably damaging |
Het |
| Nectin2 |
T |
C |
7: 19,458,794 (GRCm39) |
D339G |
probably benign |
Het |
| Oprd1 |
G |
A |
4: 131,871,721 (GRCm39) |
|
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,396 (GRCm39) |
D178G |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,470,276 (GRCm39) |
V751I |
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,013,526 (GRCm39) |
S175P |
probably damaging |
Het |
| Pik3r5 |
C |
T |
11: 68,385,077 (GRCm39) |
R661C |
probably damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Prkar1b |
A |
G |
5: 139,113,400 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ptprf |
G |
A |
4: 118,093,374 (GRCm39) |
R90* |
probably null |
Het |
| Rasef |
T |
C |
4: 73,688,076 (GRCm39) |
M26V |
probably damaging |
Het |
| Rfx1 |
C |
A |
8: 84,800,533 (GRCm39) |
Q45K |
unknown |
Het |
| Rnf183 |
A |
G |
4: 62,346,753 (GRCm39) |
V15A |
possibly damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,155,128 (GRCm39) |
C19F |
probably damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,190,229 (GRCm39) |
I907F |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,485,318 (GRCm39) |
I293V |
probably benign |
Het |
| Srcap |
C |
A |
7: 127,118,988 (GRCm39) |
A97E |
probably damaging |
Het |
| Thyn1 |
G |
T |
9: 26,916,511 (GRCm39) |
|
probably null |
Het |
| Tiparp |
T |
C |
3: 65,460,913 (GRCm39) |
I634T |
possibly damaging |
Het |
| Tjp1 |
G |
A |
7: 64,992,411 (GRCm39) |
A156V |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,602,320 (GRCm39) |
M349V |
probably benign |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,646 (GRCm39) |
Y123* |
probably null |
Het |
| Vmn1r183 |
C |
T |
7: 23,754,227 (GRCm39) |
T10I |
possibly damaging |
Het |
| Zfp654 |
T |
C |
16: 64,606,289 (GRCm39) |
T97A |
probably benign |
Het |
|
| Other mutations in Tyro3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02104:Tyro3
|
APN |
2 |
119,643,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02221:Tyro3
|
APN |
2 |
119,643,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02389:Tyro3
|
APN |
2 |
119,635,345 (GRCm39) |
splice site |
probably benign |
|
|
IGL02442:Tyro3
|
APN |
2 |
119,639,349 (GRCm39) |
missense |
probably benign |
0.16 |
|
PIT4382001:Tyro3
|
UTSW |
2 |
119,632,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Tyro3
|
UTSW |
2 |
119,647,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Tyro3
|
UTSW |
2 |
119,632,182 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0503:Tyro3
|
UTSW |
2 |
119,633,711 (GRCm39) |
splice site |
probably benign |
|
|
R0551:Tyro3
|
UTSW |
2 |
119,647,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Tyro3
|
UTSW |
2 |
119,632,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1902:Tyro3
|
UTSW |
2 |
119,632,176 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1980:Tyro3
|
UTSW |
2 |
119,639,298 (GRCm39) |
missense |
probably benign |
|
|
R2294:Tyro3
|
UTSW |
2 |
119,636,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3877:Tyro3
|
UTSW |
2 |
119,643,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4651:Tyro3
|
UTSW |
2 |
119,647,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Tyro3
|
UTSW |
2 |
119,647,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4698:Tyro3
|
UTSW |
2 |
119,633,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Tyro3
|
UTSW |
2 |
119,641,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Tyro3
|
UTSW |
2 |
119,632,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5193:Tyro3
|
UTSW |
2 |
119,640,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Tyro3
|
UTSW |
2 |
119,635,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Tyro3
|
UTSW |
2 |
119,647,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Tyro3
|
UTSW |
2 |
119,643,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Tyro3
|
UTSW |
2 |
119,633,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6290:Tyro3
|
UTSW |
2 |
119,647,321 (GRCm39) |
missense |
probably benign |
|
|
R6293:Tyro3
|
UTSW |
2 |
119,638,481 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6366:Tyro3
|
UTSW |
2 |
119,647,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6712:Tyro3
|
UTSW |
2 |
119,635,335 (GRCm39) |
missense |
probably null |
0.44 |
|
R7645:Tyro3
|
UTSW |
2 |
119,647,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Tyro3
|
UTSW |
2 |
119,642,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Tyro3
|
UTSW |
2 |
119,642,589 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1088:Tyro3
|
UTSW |
2 |
119,639,948 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1177:Tyro3
|
UTSW |
2 |
119,640,472 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTTGCTTCCAGGGTATG -3'
(R):5'- TTGGGAAATCTCAGGCAGAG -3'
Sequencing Primer
(F):5'- TGGGTCAGCTCCTATAAACAAG -3'
(R):5'- CAGAGTGGCGCCTGCTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation