Incidental Mutation 'R1406:Mertk'
| ID |
160377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mertk
|
| Ensembl Gene |
ENSMUSG00000014361 |
| Gene Name |
c-mer proto-oncogene tyrosine kinase |
| Synonyms |
Nyk, nmf12, Tyro 12, Eyk, Mer |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128698956-128802894 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128771486 bp (GRCm38)
|
| 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: 99.5%
- 3x: 98.2%
- 10x: 92.2%
- 20x: 76.0%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,512,749 (GRCm38) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 34,073,042 (GRCm38) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,523,248 (GRCm38) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,136,423 (GRCm38) |
G84C |
probably damaging |
Het |
| BC027072 |
T |
C |
17: 71,749,161 (GRCm38) |
N1174D |
probably benign |
Het |
| BC035044 |
A |
T |
6: 128,885,084 (GRCm38) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,775,987 (GRCm38) |
F303L |
probably benign |
Het |
| Cdh7 |
G |
A |
1: 110,061,132 (GRCm38) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 122,006,868 (GRCm38) |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,556,330 (GRCm38) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,797,745 (GRCm38) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,464,938 (GRCm38) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,508,091 (GRCm38) |
N213K |
possibly damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm38) |
Y224C |
probably null |
Het |
| Itch |
A |
G |
2: 155,206,354 (GRCm38) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,389,494 (GRCm38) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 35,853,532 (GRCm38) |
T1324I |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,883,634 (GRCm38) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 56,037,281 (GRCm38) |
V554A |
probably benign |
Het |
| Olfr1308 |
A |
G |
2: 111,960,581 (GRCm38) |
V164A |
probably benign |
Het |
| Olfr157 |
C |
T |
4: 43,835,582 (GRCm38) |
V303M |
possibly damaging |
Het |
| Olfr419 |
T |
A |
1: 174,250,861 (GRCm38) |
E22V |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,321,651 (GRCm38) |
Y676H |
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,550,893 (GRCm38) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,351,921 (GRCm38) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,708,236 (GRCm38) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,032,444 (GRCm38) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,902,544 (GRCm38) |
|
probably null |
Het |
| Slc7a2 |
G |
T |
8: 40,905,585 (GRCm38) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,399,793 (GRCm38) |
M153V |
probably benign |
Het |
| Sp110 |
T |
G |
1: 85,579,079 (GRCm38) |
E421A |
probably benign |
Het |
| Stk4 |
C |
T |
2: 164,100,528 (GRCm38) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 46,225,541 (GRCm38) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,802,368 (GRCm38) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,866,310 (GRCm38) |
T554M |
probably damaging |
Het |
|
| Other mutations in Mertk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Mertk
|
APN |
2 |
128,783,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01561:Mertk
|
APN |
2 |
128,736,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01873:Mertk
|
APN |
2 |
128,729,275 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02539:Mertk
|
APN |
2 |
128,801,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02652:Mertk
|
APN |
2 |
128,801,270 (GRCm38) |
missense |
probably benign |
|
|
IGL02962:Mertk
|
APN |
2 |
128,777,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03237:Mertk
|
APN |
2 |
128,790,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Mertk
|
UTSW |
2 |
128,782,617 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0118:Mertk
|
UTSW |
2 |
128,759,166 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0281:Mertk
|
UTSW |
2 |
128,782,621 (GRCm38) |
splice site |
probably benign |
|
|
R0491:Mertk
|
UTSW |
2 |
128,793,107 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0565:Mertk
|
UTSW |
2 |
128,771,483 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0628:Mertk
|
UTSW |
2 |
128,738,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1260:Mertk
|
UTSW |
2 |
128,762,152 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1406:Mertk
|
UTSW |
2 |
128,771,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1423:Mertk
|
UTSW |
2 |
128,778,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1523:Mertk
|
UTSW |
2 |
128,790,328 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1539:Mertk
|
UTSW |
2 |
128,782,526 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1680:Mertk
|
UTSW |
2 |
128,801,636 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1770:Mertk
|
UTSW |
2 |
128,750,174 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1832:Mertk
|
UTSW |
2 |
128,762,212 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1870:Mertk
|
UTSW |
2 |
128,801,196 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1959:Mertk
|
UTSW |
2 |
128,759,090 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2078:Mertk
|
UTSW |
2 |
128,794,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2125:Mertk
|
UTSW |
2 |
128,762,138 (GRCm38) |
missense |
probably benign |
|
|
R2178:Mertk
|
UTSW |
2 |
128,793,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2220:Mertk
|
UTSW |
2 |
128,801,472 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4128:Mertk
|
UTSW |
2 |
128,777,438 (GRCm38) |
nonsense |
probably null |
|
|
R4664:Mertk
|
UTSW |
2 |
128,801,212 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4740:Mertk
|
UTSW |
2 |
128,751,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4822:Mertk
|
UTSW |
2 |
128,801,305 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4839:Mertk
|
UTSW |
2 |
128,782,576 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4874:Mertk
|
UTSW |
2 |
128,750,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4899:Mertk
|
UTSW |
2 |
128,783,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5010:Mertk
|
UTSW |
2 |
128,784,000 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5128:Mertk
|
UTSW |
2 |
128,738,247 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5251:Mertk
|
UTSW |
2 |
128,729,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5276:Mertk
|
UTSW |
2 |
128,801,314 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5397:Mertk
|
UTSW |
2 |
128,771,464 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5575:Mertk
|
UTSW |
2 |
128,736,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5605:Mertk
|
UTSW |
2 |
128,738,307 (GRCm38) |
missense |
probably benign |
0.43 |
|
R5705:Mertk
|
UTSW |
2 |
128,771,401 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5987:Mertk
|
UTSW |
2 |
128,771,374 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6127:Mertk
|
UTSW |
2 |
128,738,291 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6556:Mertk
|
UTSW |
2 |
128,776,421 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6671:Mertk
|
UTSW |
2 |
128,752,023 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6674:Mertk
|
UTSW |
2 |
128,729,357 (GRCm38) |
missense |
probably benign |
|
|
R6841:Mertk
|
UTSW |
2 |
128,759,230 (GRCm38) |
splice site |
probably null |
|
|
R7153:Mertk
|
UTSW |
2 |
128,736,649 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7192:Mertk
|
UTSW |
2 |
128,793,108 (GRCm38) |
splice site |
probably null |
|
|
R7225:Mertk
|
UTSW |
2 |
128,801,562 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7344:Mertk
|
UTSW |
2 |
128,771,497 (GRCm38) |
missense |
probably benign |
|
|
R7414:Mertk
|
UTSW |
2 |
128,729,393 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7883:Mertk
|
UTSW |
2 |
128,776,345 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8000:Mertk
|
UTSW |
2 |
128,771,498 (GRCm38) |
missense |
probably benign |
|
|
R8953:Mertk
|
UTSW |
2 |
128,778,796 (GRCm38) |
intron |
probably benign |
|
|
R9135:Mertk
|
UTSW |
2 |
128,762,115 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9153:Mertk
|
UTSW |
2 |
128,782,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9176:Mertk
|
UTSW |
2 |
128,778,972 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9443:Mertk
|
UTSW |
2 |
128,762,109 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9574:Mertk
|
UTSW |
2 |
128,751,960 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9582:Mertk
|
UTSW |
2 |
128,782,607 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9616:Mertk
|
UTSW |
2 |
128,801,335 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0067:Mertk
|
UTSW |
2 |
128,729,567 (GRCm38) |
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 |
2014-03-14 |
Incidental Mutation