Incidental Mutation 'R6366:Tyro3'
ID |
512673 |
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 |
044516-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6366 (G1)
|
Quality Score |
164.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
119628221-119648585 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119647156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 758
(D758N)
|
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: D762N
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000028763 Gene: ENSMUSG00000027298 AA Change: D762N
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: D758N
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106410 Gene: ENSMUSG00000027298 AA Change: D758N
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
|
Meta Mutation Damage Score |
0.1387 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.0%
- 20x: 93.4%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,584,766 (GRCm39) |
F185L |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,835,188 (GRCm39) |
D131G |
probably damaging |
Het |
Boc |
T |
C |
16: 44,308,015 (GRCm39) |
K947E |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,396,425 (GRCm39) |
E772G |
probably damaging |
Het |
Ccdc7a |
A |
G |
8: 129,582,473 (GRCm39) |
V1055A |
unknown |
Het |
Chd1l |
A |
G |
3: 97,501,476 (GRCm39) |
V190A |
probably benign |
Het |
Chl1 |
C |
A |
6: 103,706,197 (GRCm39) |
N396K |
possibly damaging |
Het |
CN725425 |
T |
G |
15: 91,131,124 (GRCm39) |
Y420D |
possibly damaging |
Het |
Col6a1 |
A |
T |
10: 76,546,804 (GRCm39) |
I806N |
unknown |
Het |
Csmd2 |
A |
G |
4: 128,377,245 (GRCm39) |
K2042E |
probably benign |
Het |
Eif4a1 |
G |
T |
11: 69,561,781 (GRCm39) |
D15E |
probably benign |
Het |
Etfb |
T |
C |
7: 43,102,365 (GRCm39) |
L119S |
probably damaging |
Het |
Fbxo42 |
T |
A |
4: 140,927,260 (GRCm39) |
S513R |
probably benign |
Het |
Gys2 |
C |
A |
6: 142,409,120 (GRCm39) |
C45F |
probably benign |
Het |
Hspa1a |
G |
A |
17: 35,189,500 (GRCm39) |
P468S |
probably damaging |
Het |
Kdm2a |
G |
T |
19: 4,374,960 (GRCm39) |
Q724K |
probably benign |
Het |
Lama3 |
G |
T |
18: 12,615,194 (GRCm39) |
G1373W |
probably damaging |
Het |
Lhx1 |
A |
T |
11: 84,413,034 (GRCm39) |
F84Y |
probably damaging |
Het |
Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
Lrrc7 |
T |
C |
3: 157,841,012 (GRCm39) |
Q1389R |
probably benign |
Het |
Lrtm2 |
T |
C |
6: 119,294,238 (GRCm39) |
R298G |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,056,739 (GRCm39) |
V268A |
probably benign |
Het |
Mgat4d |
T |
A |
8: 84,095,580 (GRCm39) |
|
probably null |
Het |
Mknk2 |
C |
A |
10: 80,507,767 (GRCm39) |
R33L |
probably damaging |
Het |
Ms4a1 |
A |
G |
19: 11,236,062 (GRCm39) |
S42P |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,557,340 (GRCm39) |
I2984M |
unknown |
Het |
Mup12 |
A |
C |
4: 60,696,657 (GRCm39) |
F74V |
probably damaging |
Het |
Nacad |
A |
C |
11: 6,551,196 (GRCm39) |
L665R |
probably benign |
Het |
Pde6a |
T |
A |
18: 61,398,142 (GRCm39) |
|
probably null |
Het |
Plb1 |
A |
G |
5: 32,471,429 (GRCm39) |
N579D |
possibly damaging |
Het |
Podn |
T |
A |
4: 107,876,001 (GRCm39) |
I552F |
possibly damaging |
Het |
Potefam1 |
A |
G |
2: 110,999,937 (GRCm39) |
|
probably null |
Het |
Pramel32 |
T |
A |
4: 88,547,102 (GRCm39) |
I106F |
probably damaging |
Het |
Prl3b1 |
A |
T |
13: 27,427,875 (GRCm39) |
M62L |
probably benign |
Het |
Ptpn13 |
G |
T |
5: 103,698,919 (GRCm39) |
R1134L |
probably damaging |
Het |
Rpl37 |
T |
A |
15: 5,147,990 (GRCm39) |
|
probably null |
Het |
Samd4 |
T |
A |
14: 47,311,607 (GRCm39) |
|
probably null |
Het |
Sh3rf2 |
T |
C |
18: 42,286,130 (GRCm39) |
V541A |
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,799,380 (GRCm39) |
V335A |
probably damaging |
Het |
Slc7a7 |
T |
C |
14: 54,612,057 (GRCm39) |
Y282C |
probably damaging |
Het |
Spag7 |
T |
C |
11: 70,555,418 (GRCm39) |
K125E |
possibly damaging |
Het |
Spata31e4 |
T |
C |
13: 50,855,972 (GRCm39) |
Y537H |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
Stab1 |
T |
C |
14: 30,863,395 (GRCm39) |
K2097R |
probably benign |
Het |
Stk38 |
A |
G |
17: 29,193,338 (GRCm39) |
W364R |
probably benign |
Het |
Tectb |
G |
A |
19: 55,170,350 (GRCm39) |
G67D |
probably damaging |
Het |
Ttll9 |
G |
T |
2: 152,833,525 (GRCm39) |
D208Y |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,310,792 (GRCm39) |
|
probably benign |
Het |
Unc5b |
C |
T |
10: 60,614,091 (GRCm39) |
A253T |
probably benign |
Het |
Wtap |
A |
T |
17: 13,186,945 (GRCm39) |
|
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 |
|
R6293:Tyro3
|
UTSW |
2 |
119,638,481 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- ATGAGGTCATGAGCATGTATGCATTC -3'
(R):5'- CTGAAGATGTACCGAGAGTCAC -3'
Sequencing Primer
(F):5'- TTCACACACACATATATACATACACG -3'
(R):5'- TCACTGGGGATGCCACCTAC -3'
|
Posted On |
2018-04-27 |