Incidental Mutation 'IGL02104:Tyro3'
ID |
279882 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tyro3
|
Ensembl Gene |
ENSMUSG00000027298 |
Gene Name |
TYRO3 protein tyrosine kinase 3 |
Synonyms |
Sky, Etk-2, Tif, Rse, Brt, Sky, Dtk |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02104
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
119628221-119648585 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119643681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 718
(R718H)
|
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: R718H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028763 Gene: ENSMUSG00000027298 AA Change: R718H
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: R714H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106410 Gene: ENSMUSG00000027298 AA Change: R714H
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: ENSMUST00000137135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147761
|
Coding Region Coverage |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
Abcb5 |
T |
A |
12: 118,904,415 (GRCm39) |
Q125L |
probably damaging |
Het |
Acap3 |
G |
A |
4: 155,989,542 (GRCm39) |
R662H |
probably damaging |
Het |
Aox4 |
T |
A |
1: 58,275,816 (GRCm39) |
|
probably benign |
Het |
Aqp6 |
T |
C |
15: 99,502,159 (GRCm39) |
S285P |
probably benign |
Het |
Arhgef5 |
A |
T |
6: 43,249,345 (GRCm39) |
Q32L |
probably damaging |
Het |
B3gnt6 |
G |
T |
7: 97,843,308 (GRCm39) |
D217E |
probably damaging |
Het |
Cfap251 |
T |
A |
5: 123,440,761 (GRCm39) |
L1106* |
probably null |
Het |
Chd6 |
T |
C |
2: 160,819,432 (GRCm39) |
I1338V |
probably benign |
Het |
Clic6 |
A |
G |
16: 92,295,367 (GRCm39) |
E9G |
possibly damaging |
Het |
Col11a1 |
T |
A |
3: 113,975,046 (GRCm39) |
|
probably null |
Het |
Dcdc2b |
T |
A |
4: 129,504,867 (GRCm39) |
D88V |
probably benign |
Het |
Dis3l |
T |
A |
9: 64,217,611 (GRCm39) |
K791N |
possibly damaging |
Het |
Dmxl2 |
A |
T |
9: 54,311,299 (GRCm39) |
Y1008* |
probably null |
Het |
Dnah11 |
A |
G |
12: 118,156,125 (GRCm39) |
V175A |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,307,263 (GRCm39) |
|
probably null |
Het |
Fam117b |
C |
T |
1: 59,988,278 (GRCm39) |
T219I |
probably benign |
Het |
Fgf21 |
T |
A |
7: 45,264,648 (GRCm39) |
Q28L |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,393,638 (GRCm39) |
Q391R |
possibly damaging |
Het |
Gars1 |
A |
G |
6: 55,054,682 (GRCm39) |
D663G |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,971,469 (GRCm39) |
F69L |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
Map3k1 |
A |
T |
13: 111,892,777 (GRCm39) |
V826E |
probably damaging |
Het |
Mapkap1 |
T |
A |
2: 34,513,482 (GRCm39) |
Y497* |
probably null |
Het |
Mast3 |
T |
C |
8: 71,240,550 (GRCm39) |
I296V |
possibly damaging |
Het |
Mon1a |
T |
G |
9: 107,778,814 (GRCm39) |
L346R |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,912,036 (GRCm39) |
L353S |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,364,815 (GRCm39) |
Y2634H |
probably damaging |
Het |
Mylk |
A |
G |
16: 34,635,805 (GRCm39) |
T9A |
probably benign |
Het |
Or10j2 |
T |
C |
1: 173,098,603 (GRCm39) |
V287A |
probably damaging |
Het |
Or14j8 |
A |
C |
17: 38,263,182 (GRCm39) |
H244Q |
probably damaging |
Het |
Or55b3 |
C |
A |
7: 102,126,544 (GRCm39) |
V178F |
probably damaging |
Het |
Or5an6 |
T |
A |
19: 12,372,263 (GRCm39) |
V212D |
probably damaging |
Het |
Or5b122 |
T |
A |
19: 13,562,968 (GRCm39) |
M57K |
probably damaging |
Het |
Or5m8 |
G |
T |
2: 85,822,730 (GRCm39) |
D190Y |
probably damaging |
Het |
Or7g25 |
A |
T |
9: 19,160,166 (GRCm39) |
H176Q |
probably benign |
Het |
Pabpc2 |
A |
C |
18: 39,907,936 (GRCm39) |
Q400H |
possibly damaging |
Het |
Pigg |
A |
G |
5: 108,489,963 (GRCm39) |
Y856C |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,306,865 (GRCm39) |
V508E |
probably benign |
Het |
Pom121l2 |
C |
A |
13: 22,166,445 (GRCm39) |
H239N |
possibly damaging |
Het |
Prdm2 |
A |
G |
4: 142,859,997 (GRCm39) |
S1098P |
probably benign |
Het |
Rnf212 |
A |
G |
5: 108,895,306 (GRCm39) |
I41T |
possibly damaging |
Het |
Rngtt |
A |
G |
4: 33,320,517 (GRCm39) |
|
probably null |
Het |
Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
Scd4 |
G |
T |
19: 44,333,186 (GRCm39) |
V304F |
possibly damaging |
Het |
Sez6l |
A |
G |
5: 112,574,630 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,088,248 (GRCm39) |
R158G |
probably benign |
Het |
Stil |
T |
C |
4: 114,898,679 (GRCm39) |
L1103P |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,670,959 (GRCm39) |
|
probably benign |
Het |
Tmc1 |
C |
T |
19: 20,809,818 (GRCm39) |
D255N |
probably benign |
Het |
Trank1 |
C |
A |
9: 111,219,780 (GRCm39) |
D2172E |
possibly damaging |
Het |
Vamp2 |
C |
A |
11: 68,981,483 (GRCm39) |
F114L |
probably benign |
Het |
|
Other mutations in Tyro3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |