Incidental Mutation 'IGL02996:Mkrn2'
ID |
407137 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mkrn2
|
Ensembl Gene |
ENSMUSG00000000439 |
Gene Name |
makorin, ring finger protein, 2 |
Synonyms |
2610002L04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02996
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
115578844-115598647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115588868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 204
(F204L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000449]
|
AlphaFold |
Q9ERV1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000449
AA Change: F204L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000000449 Gene: ENSMUSG00000000439 AA Change: F204L
Domain | Start | End | E-Value | Type |
ZnF_C3H1
|
2 |
28 |
5.02e-6 |
SMART |
ZnF_C3H1
|
32 |
57 |
1.75e-5 |
SMART |
low complexity region
|
58 |
85 |
N/A |
INTRINSIC |
ZnF_C3H1
|
165 |
191 |
2.79e-4 |
SMART |
RING
|
238 |
291 |
5.82e-6 |
SMART |
ZnF_C3H1
|
322 |
349 |
5.5e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204720
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205248
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B4galnt1 |
C |
T |
10: 127,002,872 (GRCm39) |
R130W |
probably damaging |
Het |
Cd200r3 |
T |
C |
16: 44,774,680 (GRCm39) |
L231P |
probably damaging |
Het |
Cd200r4 |
C |
A |
16: 44,653,396 (GRCm39) |
N55K |
probably benign |
Het |
Cyb561d1 |
C |
T |
3: 108,106,961 (GRCm39) |
R86Q |
probably damaging |
Het |
Dst |
T |
C |
1: 34,227,479 (GRCm39) |
S1869P |
possibly damaging |
Het |
Dusp6 |
T |
C |
10: 99,100,628 (GRCm39) |
V208A |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 6,935,279 (GRCm39) |
V4248E |
probably damaging |
Het |
Exoc6b |
T |
A |
6: 84,885,195 (GRCm39) |
D248V |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,012,674 (GRCm39) |
D2323A |
probably damaging |
Het |
Fbxo6 |
T |
C |
4: 148,231,348 (GRCm39) |
Y144C |
probably damaging |
Het |
Gm7334 |
C |
A |
17: 51,006,084 (GRCm39) |
N123K |
possibly damaging |
Het |
Large2 |
T |
C |
2: 92,196,273 (GRCm39) |
H518R |
possibly damaging |
Het |
Marchf4 |
G |
A |
1: 72,468,058 (GRCm39) |
Q325* |
probably null |
Het |
Mccc2 |
C |
A |
13: 100,097,487 (GRCm39) |
|
probably benign |
Het |
Mical3 |
T |
C |
6: 120,935,519 (GRCm39) |
D1669G |
probably damaging |
Het |
Or1p1 |
T |
C |
11: 74,179,991 (GRCm39) |
V173A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
Pkn3 |
A |
G |
2: 29,970,627 (GRCm39) |
D148G |
probably benign |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Rwdd1 |
G |
T |
10: 33,878,512 (GRCm39) |
Q108K |
probably damaging |
Het |
Senp3 |
T |
C |
11: 69,565,086 (GRCm39) |
E496G |
probably damaging |
Het |
St6gal1 |
T |
A |
16: 23,139,904 (GRCm39) |
V25E |
probably damaging |
Het |
Syt4 |
T |
C |
18: 31,577,199 (GRCm39) |
K52E |
probably damaging |
Het |
Tap1 |
C |
A |
17: 34,410,370 (GRCm39) |
A349E |
probably damaging |
Het |
Tfr2 |
T |
A |
5: 137,581,728 (GRCm39) |
M605K |
probably benign |
Het |
Tmem192 |
A |
G |
8: 65,421,442 (GRCm39) |
|
probably null |
Het |
Trf |
T |
C |
9: 103,098,102 (GRCm39) |
E52G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,556,531 (GRCm39) |
V30158A |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,143,991 (GRCm39) |
E152G |
probably damaging |
Het |
Vmn2r57 |
T |
A |
7: 41,049,165 (GRCm39) |
K861N |
probably benign |
Het |
|
Other mutations in Mkrn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01301:Mkrn2
|
APN |
6 |
115,588,750 (GRCm39) |
nonsense |
probably null |
|
ANU18:Mkrn2
|
UTSW |
6 |
115,588,750 (GRCm39) |
nonsense |
probably null |
|
IGL03134:Mkrn2
|
UTSW |
6 |
115,590,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R0086:Mkrn2
|
UTSW |
6 |
115,590,296 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0731:Mkrn2
|
UTSW |
6 |
115,591,612 (GRCm39) |
missense |
probably damaging |
0.96 |
R1740:Mkrn2
|
UTSW |
6 |
115,590,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Mkrn2
|
UTSW |
6 |
115,586,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R2036:Mkrn2
|
UTSW |
6 |
115,588,875 (GRCm39) |
missense |
probably benign |
0.28 |
R4291:Mkrn2
|
UTSW |
6 |
115,594,395 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4723:Mkrn2
|
UTSW |
6 |
115,588,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R6292:Mkrn2
|
UTSW |
6 |
115,590,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R6816:Mkrn2
|
UTSW |
6 |
115,588,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7970:Mkrn2
|
UTSW |
6 |
115,594,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R9010:Mkrn2
|
UTSW |
6 |
115,591,583 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9035:Mkrn2
|
UTSW |
6 |
115,594,681 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9282:Mkrn2
|
UTSW |
6 |
115,591,534 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9525:Mkrn2
|
UTSW |
6 |
115,587,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2016-08-02 |