Incidental Mutation 'R7645:Tyro3'
| ID |
590469 |
| 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 |
045701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7645 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119628221-119648585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119647387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 839
(Y839H)
|
| 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: Y839H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: Y839H
| 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: Y835H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: Y835H
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (46/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,789 (GRCm39) |
C375S |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,761,392 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,589,689 (GRCm39) |
Y1854C |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,387 (GRCm39) |
N290K |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,879,318 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
T |
C |
9: 114,442,705 (GRCm39) |
S501G |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,644,397 (GRCm39) |
|
probably null |
Het |
| Coq2 |
A |
C |
5: 100,808,116 (GRCm39) |
C228W |
probably damaging |
Het |
| Cpt2 |
A |
T |
4: 107,764,171 (GRCm39) |
M531K |
possibly damaging |
Het |
| Dennd1a |
A |
G |
2: 37,911,375 (GRCm39) |
L204P |
probably damaging |
Het |
| Dock9 |
C |
T |
14: 121,835,075 (GRCm39) |
V1305M |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,702,888 (GRCm39) |
I201T |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,064,630 (GRCm39) |
D370G |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,377,037 (GRCm39) |
S158P |
probably damaging |
Het |
| Fut10 |
A |
G |
8: 31,726,232 (GRCm39) |
H329R |
possibly damaging |
Het |
| Gpr3 |
A |
G |
4: 132,938,640 (GRCm39) |
W11R |
probably damaging |
Het |
| H2-M3 |
T |
A |
17: 37,581,620 (GRCm39) |
I94N |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,310,524 (GRCm39) |
I57T |
probably damaging |
Het |
| Ltc4s |
T |
C |
11: 50,129,373 (GRCm39) |
|
probably benign |
Het |
| Ms4a6b |
A |
T |
19: 11,501,304 (GRCm39) |
T105S |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,234,923 (GRCm39) |
H592R |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,476,303 (GRCm39) |
E262G |
probably benign |
Het |
| Or4x11 |
T |
A |
2: 89,868,091 (GRCm39) |
I276K |
possibly damaging |
Het |
| Or5b108 |
T |
C |
19: 13,168,937 (GRCm39) |
V302A |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,943,480 (GRCm39) |
S1908T |
probably damaging |
Het |
| Polg2 |
A |
T |
11: 106,666,419 (GRCm39) |
M242K |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,842,563 (GRCm39) |
T151A |
unknown |
Het |
| Pramel51 |
T |
C |
12: 88,143,028 (GRCm39) |
T392A |
probably damaging |
Het |
| Psmb8 |
T |
C |
17: 34,419,186 (GRCm39) |
L160P |
possibly damaging |
Het |
| Rab5b |
G |
A |
10: 128,517,260 (GRCm39) |
A176V |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
| Rufy3 |
A |
G |
5: 88,788,476 (GRCm39) |
T506A |
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,340,243 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,029,450 (GRCm39) |
F279L |
possibly damaging |
Het |
| Slc49a4 |
T |
A |
16: 35,554,438 (GRCm39) |
|
probably null |
Het |
| Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
| Srgn |
C |
T |
10: 62,330,757 (GRCm39) |
W116* |
probably null |
Het |
| Svil |
A |
G |
18: 5,099,663 (GRCm39) |
E1733G |
probably damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,119,742 (GRCm39) |
P49S |
probably benign |
Het |
| Tbc1d9 |
A |
T |
8: 83,969,182 (GRCm39) |
K490M |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,845,915 (GRCm39) |
N173S |
probably benign |
Het |
| Tmco6 |
C |
T |
18: 36,868,446 (GRCm39) |
R31W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,730,025 (GRCm39) |
A5155S |
unknown |
Het |
| Zc3h12d |
A |
G |
10: 7,743,340 (GRCm39) |
D370G |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,664,803 (GRCm39) |
L554P |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,014 (GRCm39) |
P385S |
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 |
|
R5693:Tyro3
|
UTSW |
2 |
119,641,349 (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 |
|
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'- ATGGAACTGGAGAACATTCTGG -3'
(R):5'- TGTGATCAGACTGGGCCTAGTC -3'
Sequencing Primer
(F):5'- AGAACATTCTGGGCCACCTGTC -3'
(R):5'- TAGTCAGGCAGCACAGCG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation