Incidental Mutation 'R4698:Tyro3'
| ID |
355813 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119628221-119648585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119633751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 133
(D133V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028763]
[ENSMUST00000110783]
|
| AlphaFold |
P55144 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028763
AA Change: D137V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: D137V
| 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: D133V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: D133V
| 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: ENSMUST00000135726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148343
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,349,049 (GRCm39) |
V11A |
possibly damaging |
Het |
| 6030452D12Rik |
T |
C |
8: 107,230,979 (GRCm39) |
I55T |
unknown |
Het |
| Aadacl2 |
A |
G |
3: 59,932,460 (GRCm39) |
D325G |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,988,274 (GRCm39) |
S113G |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,392,130 (GRCm39) |
|
probably null |
Het |
| Aicda |
C |
T |
6: 122,530,847 (GRCm39) |
|
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,563,535 (GRCm39) |
M135T |
probably benign |
Het |
| Asah2 |
T |
C |
19: 32,031,871 (GRCm39) |
|
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,543 (GRCm39) |
R390G |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,705,654 (GRCm38) |
E247G |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,146,873 (GRCm39) |
I383T |
probably damaging |
Het |
| Celf3 |
T |
A |
3: 94,392,174 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
T |
C |
6: 55,079,852 (GRCm39) |
S162G |
possibly damaging |
Het |
| Dapl1 |
A |
T |
2: 59,335,118 (GRCm39) |
K91* |
probably null |
Het |
| Ddx60 |
A |
C |
8: 62,465,458 (GRCm39) |
M1372L |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,389,358 (GRCm39) |
F845I |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,531,478 (GRCm39) |
V310A |
probably benign |
Het |
| Eef1g |
A |
G |
19: 8,955,330 (GRCm39) |
D393G |
possibly damaging |
Het |
| Eif3k |
T |
C |
7: 28,671,969 (GRCm39) |
I172V |
possibly damaging |
Het |
| Foxd4 |
A |
G |
19: 24,877,625 (GRCm39) |
F192L |
probably damaging |
Het |
| Gpr153 |
T |
A |
4: 152,366,240 (GRCm39) |
S268R |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,394 (GRCm39) |
R129S |
probably damaging |
Het |
| Ivl |
T |
C |
3: 92,478,698 (GRCm39) |
K456E |
unknown |
Het |
| Kif20b |
A |
T |
19: 34,928,944 (GRCm39) |
D1190V |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,840,508 (GRCm39) |
I1223L |
possibly damaging |
Het |
| Lmf1 |
T |
C |
17: 25,798,324 (GRCm39) |
V55A |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,459,987 (GRCm39) |
E659G |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,930 (GRCm39) |
E165G |
possibly damaging |
Het |
| Mios |
T |
C |
6: 8,228,113 (GRCm39) |
Y677H |
possibly damaging |
Het |
| Mnx1 |
T |
A |
5: 29,679,057 (GRCm39) |
K342M |
unknown |
Het |
| Mtpap |
A |
T |
18: 4,375,724 (GRCm39) |
T35S |
possibly damaging |
Het |
| Ndc1 |
C |
G |
4: 107,268,334 (GRCm39) |
D623E |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,336,951 (GRCm39) |
Y666C |
probably damaging |
Het |
| Or52s6 |
T |
A |
7: 103,091,842 (GRCm39) |
I163F |
possibly damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,135,720 (GRCm39) |
T17A |
probably damaging |
Het |
| Or5b12b |
T |
G |
19: 12,861,985 (GRCm39) |
F247V |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,596 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Papss1 |
G |
T |
3: 131,313,092 (GRCm39) |
V369F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,822 (GRCm39) |
Y601N |
probably damaging |
Het |
| Pde7a |
C |
T |
3: 19,365,095 (GRCm39) |
R24Q |
probably damaging |
Het |
| Phf21a |
A |
G |
2: 92,187,297 (GRCm39) |
D445G |
probably damaging |
Het |
| Plekho1 |
T |
A |
3: 95,902,964 (GRCm39) |
N15I |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,057,634 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,724,061 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
T |
C |
19: 41,861,481 (GRCm39) |
E942G |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,051,830 (GRCm39) |
D685G |
probably benign |
Het |
| Smim23 |
A |
T |
11: 32,774,510 (GRCm39) |
I3N |
possibly damaging |
Het |
| Spata7 |
A |
T |
12: 98,630,536 (GRCm39) |
I333F |
probably damaging |
Het |
| Sppl2c |
T |
C |
11: 104,079,141 (GRCm39) |
I647T |
probably benign |
Het |
| Srgap1 |
C |
A |
10: 121,628,392 (GRCm39) |
R837L |
probably benign |
Het |
| Stpg2 |
C |
A |
3: 139,014,990 (GRCm39) |
P385H |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,016 (GRCm39) |
E19* |
probably null |
Het |
| Top2b |
A |
T |
14: 16,387,331 (GRCm38) |
K140* |
probably null |
Het |
| Trp53 |
T |
A |
11: 69,479,248 (GRCm39) |
L142* |
probably null |
Het |
| Virma |
T |
A |
4: 11,528,636 (GRCm39) |
I1291N |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,507 (GRCm39) |
|
probably benign |
Het |
| Zbtb10 |
T |
C |
3: 9,329,610 (GRCm39) |
S323P |
possibly damaging |
Het |
| Zfp521 |
A |
T |
18: 13,978,660 (GRCm39) |
N584K |
probably damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,180 (GRCm39) |
C356R |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCTCCCATACTCTGAGTAG -3'
(R):5'- AGCTCACTCTTGGCTCAAAGC -3'
Sequencing Primer
(F):5'- GCTGGTCTGGGAAGGGAC -3'
(R):5'- AAGCCCCCTCCTGAGACTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation