Incidental Mutation 'R6712:Tyro3'
| ID |
529165 |
| 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 |
044830-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119628221-119648585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119635335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 209
(A209T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028763]
[ENSMUST00000110783]
|
| AlphaFold |
P55144 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028763
AA Change: A213T
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028763
Gene: ENSMUSG00000027298
AA Change: A213T
| 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 null
Transcript: ENSMUST00000110783
AA Change: A209T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106410
Gene: ENSMUSG00000027298
AA Change: A209T
| 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: ENSMUST00000147761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148343
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
G |
A |
17: 32,551,862 (GRCm39) |
T443M |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,798,644 (GRCm39) |
V950D |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,733,852 (GRCm39) |
K3014E |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,318,908 (GRCm39) |
Y1586H |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,014,457 (GRCm39) |
I2010N |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,514,583 (GRCm39) |
M1446L |
probably benign |
Het |
| Fcmr |
T |
C |
1: 130,805,588 (GRCm39) |
L274P |
probably damaging |
Het |
| Foxn1 |
T |
G |
11: 78,252,085 (GRCm39) |
D382A |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,226,993 (GRCm39) |
R1721G |
possibly damaging |
Het |
| H2aj |
A |
G |
6: 136,785,524 (GRCm39) |
I63V |
probably benign |
Het |
| Mfsd9 |
T |
C |
1: 40,825,601 (GRCm39) |
|
probably null |
Het |
| Mis18a |
T |
C |
16: 90,524,045 (GRCm39) |
E39G |
possibly damaging |
Het |
| Mmp27 |
A |
T |
9: 7,572,177 (GRCm39) |
T126S |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myo5a |
A |
C |
9: 75,120,182 (GRCm39) |
D1635A |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,253,645 (GRCm39) |
V11A |
probably benign |
Het |
| Nlrc4 |
A |
T |
17: 74,753,831 (GRCm39) |
M184K |
probably damaging |
Het |
| Or10h28 |
T |
G |
17: 33,488,242 (GRCm39) |
H181Q |
possibly damaging |
Het |
| Or52e15 |
A |
T |
7: 104,645,625 (GRCm39) |
I162K |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,488,051 (GRCm39) |
Q81K |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,185,419 (GRCm39) |
I97K |
probably damaging |
Het |
| Pknox1 |
C |
A |
17: 31,814,290 (GRCm39) |
T205K |
probably benign |
Het |
| Polh |
T |
C |
17: 46,501,655 (GRCm39) |
S179G |
probably benign |
Het |
| Ppp4r4 |
G |
A |
12: 103,562,702 (GRCm39) |
R557Q |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,710,847 (GRCm39) |
D54E |
possibly damaging |
Het |
| Tmc8 |
C |
A |
11: 117,675,639 (GRCm39) |
N185K |
probably benign |
Het |
| Tns1 |
C |
A |
1: 74,118,460 (GRCm39) |
E57* |
probably null |
Het |
| Ube2f |
T |
A |
1: 91,204,171 (GRCm39) |
C116S |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,109,992 (GRCm39) |
T308A |
possibly damaging |
Het |
| Wwc2 |
T |
A |
8: 48,353,838 (GRCm39) |
M99L |
probably benign |
Het |
| Zfp516 |
C |
T |
18: 82,975,433 (GRCm39) |
R544C |
probably damaging |
Het |
| Zfp764l1 |
A |
T |
7: 126,991,482 (GRCm39) |
H168Q |
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 |
|
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 |
|
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'- CTGAATTGAAGTCCCTCCTTCG -3'
(R):5'- GATGGGAAATCTGCTGTGACG -3'
Sequencing Primer
(F):5'- CTTCGTAAACTCAGACTCAGTGGG -3'
(R):5'- AAATCTGCTGTGACGTCAGGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation