Incidental Mutation 'R6110:Tyro3'
| ID |
484767 |
| 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 |
044428-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6110 (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 119643304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 655
(V655A)
|
| 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: V659A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: V659A
| 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: V655A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: V655A
| 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: ENSMUST00000137135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147761
|
| Meta Mutation Damage Score |
0.5930 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7b |
T |
C |
4: 56,740,224 (GRCm39) |
E378G |
probably damaging |
Het |
| Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
| Alkal2 |
G |
A |
12: 30,937,057 (GRCm39) |
R90Q |
probably damaging |
Het |
| Amy1 |
C |
T |
3: 113,355,549 (GRCm39) |
V309M |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,883 (GRCm39) |
L3455P |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,436 (GRCm39) |
H1438Q |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,003,996 (GRCm39) |
S757P |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,090,283 (GRCm39) |
F462Y |
probably damaging |
Het |
| C4bp |
T |
A |
1: 130,566,809 (GRCm39) |
K177* |
probably null |
Het |
| Cacna1h |
G |
T |
17: 25,610,250 (GRCm39) |
P752Q |
probably benign |
Het |
| Cd34 |
G |
A |
1: 194,631,877 (GRCm39) |
|
probably null |
Het |
| Cimap1a |
G |
T |
7: 140,428,554 (GRCm39) |
R73L |
possibly damaging |
Het |
| Clptm1 |
G |
A |
7: 19,367,731 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,673,802 (GRCm39) |
S1081P |
probably damaging |
Het |
| Dnm3 |
CAGCCTTCGTTGGGTG |
C |
1: 161,838,637 (GRCm39) |
|
probably benign |
Het |
| Efcab6 |
T |
G |
15: 83,763,835 (GRCm39) |
M1166L |
possibly damaging |
Het |
| Fam151a |
G |
A |
4: 106,605,395 (GRCm39) |
V586M |
probably damaging |
Het |
| Fap |
T |
G |
2: 62,385,114 (GRCm39) |
Y54S |
possibly damaging |
Het |
| Grhl1 |
A |
G |
12: 24,630,746 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,167,064 (GRCm39) |
Y91C |
probably damaging |
Het |
| Ift70b |
T |
C |
2: 75,768,144 (GRCm39) |
Y203C |
probably damaging |
Het |
| Kat6b |
C |
T |
14: 21,720,555 (GRCm39) |
R1745C |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,389,267 (GRCm39) |
L898P |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,317 (GRCm39) |
Q84R |
unknown |
Het |
| Mfn1 |
G |
A |
3: 32,617,173 (GRCm39) |
M18I |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,354,586 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
C |
G |
13: 69,775,767 (GRCm39) |
Q404E |
probably benign |
Het |
| Or1j17 |
T |
C |
2: 36,578,559 (GRCm39) |
S182P |
probably benign |
Het |
| Or2at4 |
C |
T |
7: 99,384,377 (GRCm39) |
S9L |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,779 (GRCm39) |
M98V |
probably damaging |
Het |
| Or5b123 |
C |
T |
19: 13,597,249 (GRCm39) |
A241V |
probably benign |
Het |
| Or5j3 |
T |
A |
2: 86,129,019 (GRCm39) |
N286K |
probably damaging |
Het |
| Or5p70 |
G |
T |
7: 107,995,035 (GRCm39) |
S236I |
possibly damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,773,996 (GRCm39) |
I90V |
possibly damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,442 (GRCm39) |
S48T |
possibly damaging |
Het |
| Pax2 |
T |
A |
19: 44,779,175 (GRCm39) |
S183T |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,144,509 (GRCm39) |
L200P |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,482 (GRCm39) |
V264A |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,606,279 (GRCm39) |
N1199K |
possibly damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,819,331 (GRCm39) |
N795S |
probably damaging |
Het |
| Qars1 |
T |
C |
9: 108,385,297 (GRCm39) |
S6P |
probably benign |
Het |
| Sema3a |
T |
C |
5: 13,630,969 (GRCm39) |
Y502H |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,914,085 (GRCm39) |
I91T |
probably damaging |
Het |
| Setx |
T |
G |
2: 29,030,302 (GRCm39) |
I247S |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,395,731 (GRCm39) |
L594P |
probably damaging |
Het |
| Tnfrsf19 |
A |
T |
14: 61,208,588 (GRCm39) |
M311K |
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,024,589 (GRCm39) |
I588T |
probably benign |
Het |
| Uba7 |
T |
A |
9: 107,856,138 (GRCm39) |
D504E |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,215,477 (GRCm39) |
E117G |
possibly damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,005 (GRCm39) |
I296K |
probably damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,017,837 (GRCm39) |
C521S |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,949,958 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,237,434 (GRCm39) |
S766P |
probably damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,953,486 (GRCm39) |
N165S |
possibly 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 |
|
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 |
|
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'- AGCAGCTCGGAATTGCATGTAG -3'
(R):5'- TTTGGGTCCTGCACATCCAC -3'
Sequencing Primer
(F):5'- CTCGGAATTGCATGTAGGAATG -3'
(R):5'- TAATTCACCCTATTCACATTACCAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation