Incidental Mutation 'R1406:Mertk'
| ID |
188728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mertk
|
| Ensembl Gene |
ENSMUSG00000014361 |
| Gene Name |
MER proto-oncogene tyrosine kinase |
| Synonyms |
nmf12, Tyro 12, Nyk, Eyk, Mer |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128540876-128644814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128613406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 474
(I474T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
| AlphaFold |
Q60805 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014505
AA Change: I474T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: I474T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
94 |
189 |
8.99e-6 |
SMART |
|
IG
|
198 |
276 |
1.54e-4 |
SMART |
|
FN3
|
279 |
363 |
7.23e-8 |
SMART |
|
FN3
|
379 |
465 |
6.16e-2 |
SMART |
|
transmembrane domain
|
498 |
520 |
N/A |
INTRINSIC |
|
TyrKc
|
582 |
849 |
2.88e-129 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140221
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations show increased sensitivity to LPS-induced shock, defective phagocytosis of apoptotic cells, lupus-like autoimmunity, degeneration of photoreceptors, decreased platelet aggregation and protection from induced pulmonary thromboembolism and thrombosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,611 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Sik3 |
G |
T |
9: 46,034,643 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,552,875 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
probably damaging |
Het |
|
| Other mutations in Mertk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Mertk
|
APN |
2 |
128,625,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01561:Mertk
|
APN |
2 |
128,578,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01873:Mertk
|
APN |
2 |
128,571,195 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02539:Mertk
|
APN |
2 |
128,643,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Mertk
|
APN |
2 |
128,643,190 (GRCm39) |
missense |
probably benign |
|
|
IGL02962:Mertk
|
APN |
2 |
128,619,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Mertk
|
APN |
2 |
128,632,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Mertk
|
UTSW |
2 |
128,624,537 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0118:Mertk
|
UTSW |
2 |
128,601,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0281:Mertk
|
UTSW |
2 |
128,624,541 (GRCm39) |
splice site |
probably benign |
|
|
R0491:Mertk
|
UTSW |
2 |
128,635,027 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0565:Mertk
|
UTSW |
2 |
128,613,403 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0628:Mertk
|
UTSW |
2 |
128,580,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1260:Mertk
|
UTSW |
2 |
128,604,072 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1406:Mertk
|
UTSW |
2 |
128,613,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1423:Mertk
|
UTSW |
2 |
128,620,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Mertk
|
UTSW |
2 |
128,632,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1539:Mertk
|
UTSW |
2 |
128,624,446 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1680:Mertk
|
UTSW |
2 |
128,643,556 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1770:Mertk
|
UTSW |
2 |
128,592,094 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1832:Mertk
|
UTSW |
2 |
128,604,132 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1870:Mertk
|
UTSW |
2 |
128,643,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1959:Mertk
|
UTSW |
2 |
128,601,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2078:Mertk
|
UTSW |
2 |
128,636,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Mertk
|
UTSW |
2 |
128,604,058 (GRCm39) |
missense |
probably benign |
|
|
R2178:Mertk
|
UTSW |
2 |
128,634,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Mertk
|
UTSW |
2 |
128,643,392 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4128:Mertk
|
UTSW |
2 |
128,619,358 (GRCm39) |
nonsense |
probably null |
|
|
R4664:Mertk
|
UTSW |
2 |
128,643,132 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4740:Mertk
|
UTSW |
2 |
128,593,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Mertk
|
UTSW |
2 |
128,643,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4839:Mertk
|
UTSW |
2 |
128,624,496 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4874:Mertk
|
UTSW |
2 |
128,592,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4899:Mertk
|
UTSW |
2 |
128,625,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Mertk
|
UTSW |
2 |
128,625,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5128:Mertk
|
UTSW |
2 |
128,580,167 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5251:Mertk
|
UTSW |
2 |
128,571,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Mertk
|
UTSW |
2 |
128,643,234 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5397:Mertk
|
UTSW |
2 |
128,613,384 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5575:Mertk
|
UTSW |
2 |
128,578,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Mertk
|
UTSW |
2 |
128,580,227 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5705:Mertk
|
UTSW |
2 |
128,613,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5987:Mertk
|
UTSW |
2 |
128,613,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6127:Mertk
|
UTSW |
2 |
128,580,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6556:Mertk
|
UTSW |
2 |
128,618,341 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6671:Mertk
|
UTSW |
2 |
128,593,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6674:Mertk
|
UTSW |
2 |
128,571,277 (GRCm39) |
missense |
probably benign |
|
|
R6841:Mertk
|
UTSW |
2 |
128,601,150 (GRCm39) |
splice site |
probably null |
|
|
R7153:Mertk
|
UTSW |
2 |
128,578,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7192:Mertk
|
UTSW |
2 |
128,635,028 (GRCm39) |
splice site |
probably null |
|
|
R7225:Mertk
|
UTSW |
2 |
128,643,482 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7344:Mertk
|
UTSW |
2 |
128,613,417 (GRCm39) |
missense |
probably benign |
|
|
R7414:Mertk
|
UTSW |
2 |
128,571,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7883:Mertk
|
UTSW |
2 |
128,618,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8000:Mertk
|
UTSW |
2 |
128,613,418 (GRCm39) |
missense |
probably benign |
|
|
R8953:Mertk
|
UTSW |
2 |
128,620,716 (GRCm39) |
intron |
probably benign |
|
|
R9135:Mertk
|
UTSW |
2 |
128,604,035 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9153:Mertk
|
UTSW |
2 |
128,624,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Mertk
|
UTSW |
2 |
128,620,892 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9443:Mertk
|
UTSW |
2 |
128,604,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9574:Mertk
|
UTSW |
2 |
128,593,880 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9582:Mertk
|
UTSW |
2 |
128,624,527 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9616:Mertk
|
UTSW |
2 |
128,643,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0067:Mertk
|
UTSW |
2 |
128,571,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGTGGGCAATGTGGGTAGC -3'
(R):5'- GCAAACCAACTGTGCCAGTGAGAG -3'
Sequencing Primer
(F):5'- TAGCTGTCTAGTGAGCCACC -3'
(R):5'- GGTGTCATGGGCCTTAAACC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation