Incidental Mutation 'R6293:Tyro3'
| ID |
508534 |
| 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 |
044462-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6293 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119628221-119648585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119638481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 303
(T303A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028763]
[ENSMUST00000110783]
|
| AlphaFold |
P55144 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028763
AA Change: T307A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: T307A
| 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 |
possibly damaging
Transcript: ENSMUST00000110783
AA Change: T303A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: T303A
| 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: ENSMUST00000137135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148343
|
| Meta Mutation Damage Score |
0.1361 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,903,493 (GRCm39) |
I1048T |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Alkbh8 |
G |
T |
9: 3,347,841 (GRCm39) |
L211F |
possibly damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,307,885 (GRCm39) |
S375P |
possibly damaging |
Het |
| Apoc1 |
T |
A |
7: 19,425,817 (GRCm39) |
T68S |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,508 (GRCm39) |
Y1318N |
possibly damaging |
Het |
| Camsap2 |
C |
A |
1: 136,215,658 (GRCm39) |
R345L |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,398,659 (GRCm39) |
Q46* |
probably null |
Het |
| Cdk12 |
T |
A |
11: 98,115,379 (GRCm39) |
M840K |
unknown |
Het |
| Cfap251 |
A |
C |
5: 123,460,511 (GRCm39) |
N1158H |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,521,640 (GRCm39) |
N2772K |
probably benign |
Het |
| Dthd1 |
A |
G |
5: 63,000,193 (GRCm39) |
D505G |
probably damaging |
Het |
| Elf1 |
C |
T |
14: 79,798,226 (GRCm39) |
H38Y |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,072,173 (GRCm39) |
V272D |
probably damaging |
Het |
| Gm9964 |
T |
A |
11: 79,187,420 (GRCm39) |
K9M |
unknown |
Het |
| Gpr155 |
A |
G |
2: 73,204,341 (GRCm39) |
S158P |
possibly damaging |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,324,543 (GRCm39) |
S4635G |
possibly damaging |
Het |
| Lrch2 |
C |
T |
X: 146,263,553 (GRCm39) |
A369T |
probably damaging |
Homo |
| Lrrc8c |
A |
G |
5: 105,754,612 (GRCm39) |
Y129C |
probably damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mcm3ap |
C |
G |
10: 76,307,312 (GRCm39) |
Y418* |
probably null |
Het |
| Mpdz |
A |
G |
4: 81,278,293 (GRCm39) |
L764P |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,877,627 (GRCm39) |
D426G |
unknown |
Het |
| Ndel1 |
C |
T |
11: 68,727,101 (GRCm39) |
R192H |
probably damaging |
Het |
| Nudt21 |
T |
C |
8: 94,755,506 (GRCm39) |
D134G |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,022,371 (GRCm39) |
H113L |
probably damaging |
Het |
| Nxf1 |
A |
G |
19: 8,746,546 (GRCm39) |
K586E |
probably damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,613 (GRCm39) |
H176R |
probably damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,624 (GRCm39) |
E171G |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,108,099 (GRCm39) |
Y365C |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,560,497 (GRCm39) |
Y368C |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,515,465 (GRCm39) |
F649L |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,755,798 (GRCm39) |
Y205C |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,232,522 (GRCm39) |
N863S |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,605,019 (GRCm39) |
K2979R |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,840,253 (GRCm39) |
Y251C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,525,607 (GRCm39) |
W334R |
probably damaging |
Het |
| Rbm11 |
A |
T |
16: 75,393,655 (GRCm39) |
|
probably null |
Het |
| Rhbdl1 |
A |
G |
17: 26,053,943 (GRCm39) |
L309P |
probably damaging |
Het |
| Rhbg |
G |
A |
3: 88,153,133 (GRCm39) |
R274* |
probably null |
Het |
| Rpp30 |
A |
G |
19: 36,081,845 (GRCm39) |
*269W |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Slc44a1 |
A |
G |
4: 53,561,099 (GRCm39) |
K605R |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,927,346 (GRCm39) |
S80G |
probably benign |
Het |
| Tmem50b |
A |
T |
16: 91,380,164 (GRCm39) |
M71K |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Uba3 |
A |
T |
6: 97,173,869 (GRCm39) |
D105E |
probably damaging |
Het |
| Vmn1r21 |
T |
C |
6: 57,821,255 (GRCm39) |
D63G |
probably benign |
Het |
| Vstm2b |
T |
A |
7: 40,549,533 (GRCm39) |
I63N |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zscan22 |
T |
A |
7: 12,640,834 (GRCm39) |
C359* |
probably null |
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 |
|
|
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'- CTGAGCTCACTGGGTTTGTC -3'
(R):5'- CCACTTTAGGGCATTTTGCTTG -3'
Sequencing Primer
(F):5'- GAGCTCACTGGGTTTGTCCTTTTC -3'
(R):5'- GGGCACCCTGAAGTATTCTTATACTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation