Incidental Mutation 'R3118:Mkrn3'
ID |
263126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mkrn3
|
Ensembl Gene |
ENSMUSG00000070527 |
Gene Name |
makorin, ring finger protein, 3 |
Synonyms |
D7H15S9-1, Zfp127 |
MMRRC Submission |
040591-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3118 (G1)
|
Quality Score |
205 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
62067341-62069887 bp(-) (GRCm39) |
Type of Mutation |
small deletion (4 aa in frame mutation) |
DNA Base Change (assembly) |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA to CGGCATTGGCACTGGCATTGGCA
at 62068962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094340]
|
AlphaFold |
Q60764 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094340
|
SMART Domains |
Protein: ENSMUSP00000091898 Gene: ENSMUSG00000070527
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
25 |
N/A |
INTRINSIC |
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
ZnF_C3H1
|
92 |
118 |
7.31e-8 |
SMART |
low complexity region
|
156 |
172 |
N/A |
INTRINSIC |
low complexity region
|
205 |
220 |
N/A |
INTRINSIC |
ZnF_C3H1
|
275 |
300 |
3.95e-4 |
SMART |
RING
|
347 |
400 |
5.14e-7 |
SMART |
low complexity region
|
415 |
422 |
N/A |
INTRINSIC |
ZnF_C3H1
|
432 |
458 |
1.16e-1 |
SMART |
Pfam:MKRN1_C
|
467 |
542 |
1.3e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207232
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
G |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
Ccdc125 |
T |
C |
13: 100,826,827 (GRCm39) |
V228A |
possibly damaging |
Het |
Chrna2 |
A |
G |
14: 66,388,442 (GRCm39) |
I486V |
probably damaging |
Het |
Cpxm1 |
T |
C |
2: 130,235,493 (GRCm39) |
T500A |
possibly damaging |
Het |
Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
Cxcl1 |
T |
A |
5: 91,039,454 (GRCm39) |
|
probably null |
Het |
Dab1 |
G |
A |
4: 104,537,266 (GRCm39) |
|
probably null |
Het |
Ddx11 |
T |
A |
17: 66,456,272 (GRCm39) |
M751K |
probably damaging |
Het |
Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
Eml5 |
C |
T |
12: 98,831,753 (GRCm39) |
V402I |
probably damaging |
Het |
Fam241b |
A |
T |
10: 61,944,635 (GRCm39) |
*121R |
probably null |
Het |
Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
Gpr149 |
A |
G |
3: 62,502,443 (GRCm39) |
V471A |
probably benign |
Het |
Lemd3 |
A |
G |
10: 120,783,156 (GRCm39) |
S557P |
probably benign |
Het |
Mmp7 |
T |
C |
9: 7,697,693 (GRCm39) |
Y243H |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pak6 |
T |
C |
2: 118,520,222 (GRCm39) |
V71A |
probably damaging |
Het |
Pira2 |
T |
A |
7: 3,844,676 (GRCm39) |
R452* |
probably null |
Het |
Plxna1 |
A |
G |
6: 89,333,958 (GRCm39) |
S224P |
possibly damaging |
Het |
Prpf39 |
T |
C |
12: 65,104,651 (GRCm39) |
V572A |
possibly damaging |
Het |
Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
Rnf19a |
T |
A |
15: 36,242,045 (GRCm39) |
K665* |
probably null |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Tbx15 |
T |
C |
3: 99,259,470 (GRCm39) |
I447T |
probably damaging |
Het |
Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
Ugt1a9 |
T |
C |
1: 87,998,562 (GRCm39) |
V4A |
probably benign |
Het |
Zfp595 |
T |
C |
13: 67,468,963 (GRCm39) |
I95M |
probably benign |
Het |
|
Other mutations in Mkrn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0558:Mkrn3
|
UTSW |
7 |
62,068,612 (GRCm39) |
missense |
probably benign |
0.29 |
R1885:Mkrn3
|
UTSW |
7 |
62,068,486 (GRCm39) |
missense |
probably benign |
0.09 |
R1886:Mkrn3
|
UTSW |
7 |
62,068,486 (GRCm39) |
missense |
probably benign |
0.09 |
R2904:Mkrn3
|
UTSW |
7 |
62,068,207 (GRCm39) |
missense |
probably benign |
0.38 |
R3117:Mkrn3
|
UTSW |
7 |
62,068,962 (GRCm39) |
small deletion |
probably benign |
|
R4593:Mkrn3
|
UTSW |
7 |
62,068,552 (GRCm39) |
nonsense |
probably null |
|
R4654:Mkrn3
|
UTSW |
7 |
62,069,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R4735:Mkrn3
|
UTSW |
7 |
62,069,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R5528:Mkrn3
|
UTSW |
7 |
62,068,735 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5932:Mkrn3
|
UTSW |
7 |
62,068,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R5950:Mkrn3
|
UTSW |
7 |
62,069,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R6120:Mkrn3
|
UTSW |
7 |
62,069,282 (GRCm39) |
missense |
probably benign |
0.00 |
R6618:Mkrn3
|
UTSW |
7 |
62,068,781 (GRCm39) |
missense |
probably benign |
0.25 |
R6951:Mkrn3
|
UTSW |
7 |
62,068,881 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7009:Mkrn3
|
UTSW |
7 |
62,069,366 (GRCm39) |
missense |
probably benign |
0.05 |
R7227:Mkrn3
|
UTSW |
7 |
62,069,415 (GRCm39) |
missense |
probably benign |
0.03 |
R7228:Mkrn3
|
UTSW |
7 |
62,069,415 (GRCm39) |
missense |
probably benign |
0.03 |
R7286:Mkrn3
|
UTSW |
7 |
62,068,675 (GRCm39) |
missense |
probably benign |
0.15 |
R7339:Mkrn3
|
UTSW |
7 |
62,069,530 (GRCm39) |
missense |
probably benign |
0.22 |
R8268:Mkrn3
|
UTSW |
7 |
62,068,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R8366:Mkrn3
|
UTSW |
7 |
62,069,543 (GRCm39) |
missense |
probably benign |
0.21 |
R9390:Mkrn3
|
UTSW |
7 |
62,069,288 (GRCm39) |
missense |
probably benign |
0.17 |
X0025:Mkrn3
|
UTSW |
7 |
62,069,521 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Mkrn3
|
UTSW |
7 |
62,069,558 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACAGCAAAAGAGAGTTCC -3'
(R):5'- GCCGAGATTGACAATGCAAGC -3'
Sequencing Primer
(F):5'- AAGAGAGTTCCATATCTCTCTCGTG -3'
(R):5'- AAGCCTTGCAGCAGGTG -3'
|
Posted On |
2015-02-05 |