Incidental Mutation 'R4030:Mroh8'
ID |
313154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh8
|
Ensembl Gene |
ENSMUSG00000074627 |
Gene Name |
maestro heat-like repeat family member 8 |
Synonyms |
4922505G16Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
R4030 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
157050470-157121469 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 157055640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 986
(D986V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
AlphaFold |
E9PYI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143663
AA Change: D986V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124362 Gene: ENSMUSG00000074627 AA Change: D986V
Domain | Start | End | E-Value | Type |
low complexity region
|
189 |
200 |
N/A |
INTRINSIC |
low complexity region
|
357 |
370 |
N/A |
INTRINSIC |
SCOP:d1qbkb_
|
724 |
1024 |
8e-10 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
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 belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
2700062C07Rik |
C |
T |
18: 24,608,715 (GRCm39) |
P145L |
probably benign |
Het |
Akap3 |
A |
T |
6: 126,841,984 (GRCm39) |
D201V |
probably damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Bpifb2 |
T |
C |
2: 153,733,237 (GRCm39) |
S400P |
probably benign |
Het |
Brd7 |
A |
T |
8: 89,059,559 (GRCm39) |
I617N |
probably damaging |
Het |
Cdhr2 |
C |
A |
13: 54,865,674 (GRCm39) |
P224Q |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,403,202 (GRCm39) |
N1104S |
probably damaging |
Het |
Ceacam3 |
T |
C |
7: 16,892,267 (GRCm39) |
Y337H |
probably benign |
Het |
Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
Cpsf1 |
G |
A |
15: 76,485,979 (GRCm39) |
T397M |
possibly damaging |
Het |
Crhr2 |
T |
C |
6: 55,094,662 (GRCm39) |
D32G |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,690,815 (GRCm39) |
D308G |
probably benign |
Het |
Dsp |
A |
G |
13: 38,375,404 (GRCm39) |
N1063S |
possibly damaging |
Het |
E030030I06Rik |
C |
A |
10: 22,024,899 (GRCm39) |
G5C |
unknown |
Het |
Ehbp1 |
T |
C |
11: 22,235,498 (GRCm39) |
T32A |
probably damaging |
Het |
Fbxo9 |
C |
A |
9: 78,005,623 (GRCm39) |
|
probably null |
Het |
Gpatch3 |
G |
A |
4: 133,305,458 (GRCm39) |
R231H |
possibly damaging |
Het |
Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
H2-Q6 |
C |
A |
17: 35,644,792 (GRCm39) |
Q194K |
probably benign |
Het |
Hmgb1 |
A |
G |
5: 148,987,510 (GRCm39) |
M13T |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,382,074 (GRCm39) |
L706* |
probably null |
Het |
Krt12 |
A |
T |
11: 99,312,854 (GRCm39) |
F63L |
unknown |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,820,096 (GRCm39) |
S102P |
probably benign |
Het |
Loxl4 |
A |
T |
19: 42,596,798 (GRCm39) |
V71E |
probably damaging |
Het |
Lrrc36 |
A |
C |
8: 106,153,439 (GRCm39) |
N83T |
probably damaging |
Het |
Med26 |
G |
A |
8: 73,250,413 (GRCm39) |
R229C |
probably damaging |
Het |
Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
Mrpl49 |
T |
C |
19: 6,105,230 (GRCm39) |
D77G |
probably benign |
Het |
Mrps30 |
T |
C |
13: 118,517,077 (GRCm39) |
N381D |
probably damaging |
Het |
Mrtfa |
G |
A |
15: 80,899,985 (GRCm39) |
T729I |
probably benign |
Het |
Omd |
T |
A |
13: 49,743,125 (GRCm39) |
N58K |
probably benign |
Het |
Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
Or4a75 |
C |
A |
2: 89,448,207 (GRCm39) |
V110F |
probably damaging |
Het |
Plpp5 |
T |
A |
8: 26,210,631 (GRCm39) |
L74Q |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,278,792 (GRCm39) |
Y1374N |
probably benign |
Het |
Rbak |
A |
T |
5: 143,159,724 (GRCm39) |
I443K |
probably damaging |
Het |
Rhpn1 |
A |
T |
15: 75,582,406 (GRCm39) |
S195C |
probably damaging |
Het |
Rnf115 |
T |
A |
3: 96,693,299 (GRCm39) |
I210N |
probably damaging |
Het |
Rock2 |
G |
A |
12: 17,025,480 (GRCm39) |
V1234I |
probably damaging |
Het |
Scube2 |
A |
G |
7: 109,430,978 (GRCm39) |
V407A |
probably benign |
Het |
Serpina3n |
G |
T |
12: 104,377,660 (GRCm39) |
|
probably null |
Het |
Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
Slco2b1 |
A |
G |
7: 99,332,032 (GRCm39) |
L283P |
probably damaging |
Het |
Spag1 |
G |
A |
15: 36,234,447 (GRCm39) |
V736M |
probably damaging |
Het |
Srebf2 |
T |
A |
15: 82,062,984 (GRCm39) |
C434S |
probably damaging |
Het |
Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
Trhr2 |
T |
C |
8: 123,087,438 (GRCm39) |
M1V |
probably null |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,429,016 (GRCm39) |
R687G |
probably damaging |
Het |
Vmn2r73 |
T |
C |
7: 85,521,044 (GRCm39) |
Y308C |
possibly damaging |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,576,898 (GRCm39) |
V61A |
possibly damaging |
Het |
|
Other mutations in Mroh8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Mroh8
|
APN |
2 |
157,058,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00691:Mroh8
|
APN |
2 |
157,080,227 (GRCm39) |
splice site |
probably benign |
|
IGL00708:Mroh8
|
APN |
2 |
157,062,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01526:Mroh8
|
APN |
2 |
157,080,232 (GRCm39) |
splice site |
probably benign |
|
IGL01992:Mroh8
|
APN |
2 |
157,055,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02076:Mroh8
|
APN |
2 |
157,113,882 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02308:Mroh8
|
APN |
2 |
157,096,893 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02592:Mroh8
|
APN |
2 |
157,058,889 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4378001:Mroh8
|
UTSW |
2 |
157,070,620 (GRCm39) |
missense |
possibly damaging |
0.73 |
PIT4449001:Mroh8
|
UTSW |
2 |
157,067,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0039:Mroh8
|
UTSW |
2 |
157,071,849 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0039:Mroh8
|
UTSW |
2 |
157,071,849 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0107:Mroh8
|
UTSW |
2 |
157,067,388 (GRCm39) |
missense |
probably benign |
0.01 |
R0511:Mroh8
|
UTSW |
2 |
157,071,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Mroh8
|
UTSW |
2 |
157,065,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Mroh8
|
UTSW |
2 |
157,107,001 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1222:Mroh8
|
UTSW |
2 |
157,083,774 (GRCm39) |
splice site |
probably benign |
|
R1418:Mroh8
|
UTSW |
2 |
157,083,774 (GRCm39) |
splice site |
probably benign |
|
R1430:Mroh8
|
UTSW |
2 |
157,111,445 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1458:Mroh8
|
UTSW |
2 |
157,063,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R1509:Mroh8
|
UTSW |
2 |
157,075,125 (GRCm39) |
missense |
probably benign |
0.14 |
R1528:Mroh8
|
UTSW |
2 |
157,071,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R1703:Mroh8
|
UTSW |
2 |
157,113,896 (GRCm39) |
missense |
probably benign |
0.01 |
R1795:Mroh8
|
UTSW |
2 |
157,111,471 (GRCm39) |
missense |
probably benign |
0.16 |
R1982:Mroh8
|
UTSW |
2 |
157,113,895 (GRCm39) |
missense |
possibly damaging |
0.52 |
R3922:Mroh8
|
UTSW |
2 |
157,064,731 (GRCm39) |
missense |
probably benign |
0.03 |
R4024:Mroh8
|
UTSW |
2 |
157,098,272 (GRCm39) |
missense |
probably benign |
0.32 |
R4200:Mroh8
|
UTSW |
2 |
157,083,730 (GRCm39) |
missense |
probably benign |
0.10 |
R4492:Mroh8
|
UTSW |
2 |
157,099,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R4900:Mroh8
|
UTSW |
2 |
157,070,647 (GRCm39) |
missense |
probably benign |
0.05 |
R5396:Mroh8
|
UTSW |
2 |
157,070,576 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5464:Mroh8
|
UTSW |
2 |
157,063,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Mroh8
|
UTSW |
2 |
157,094,984 (GRCm39) |
missense |
probably benign |
0.40 |
R6220:Mroh8
|
UTSW |
2 |
157,075,083 (GRCm39) |
missense |
probably benign |
|
R6661:Mroh8
|
UTSW |
2 |
157,067,547 (GRCm39) |
missense |
probably benign |
|
R7000:Mroh8
|
UTSW |
2 |
157,058,897 (GRCm39) |
missense |
probably benign |
0.03 |
R7024:Mroh8
|
UTSW |
2 |
157,063,183 (GRCm39) |
missense |
probably benign |
|
R7221:Mroh8
|
UTSW |
2 |
157,071,837 (GRCm39) |
missense |
probably benign |
0.06 |
R7549:Mroh8
|
UTSW |
2 |
157,111,492 (GRCm39) |
missense |
probably benign |
0.01 |
R7593:Mroh8
|
UTSW |
2 |
157,071,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R7604:Mroh8
|
UTSW |
2 |
157,111,484 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8316:Mroh8
|
UTSW |
2 |
157,071,879 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8371:Mroh8
|
UTSW |
2 |
157,094,896 (GRCm39) |
nonsense |
probably null |
|
R8795:Mroh8
|
UTSW |
2 |
157,067,493 (GRCm39) |
missense |
probably damaging |
0.96 |
R8797:Mroh8
|
UTSW |
2 |
157,071,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R8801:Mroh8
|
UTSW |
2 |
157,075,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R8850:Mroh8
|
UTSW |
2 |
157,083,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R9002:Mroh8
|
UTSW |
2 |
157,058,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R9021:Mroh8
|
UTSW |
2 |
157,064,787 (GRCm39) |
missense |
probably benign |
0.06 |
R9110:Mroh8
|
UTSW |
2 |
157,055,605 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9189:Mroh8
|
UTSW |
2 |
157,111,545 (GRCm39) |
missense |
probably damaging |
0.97 |
R9224:Mroh8
|
UTSW |
2 |
157,063,069 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9225:Mroh8
|
UTSW |
2 |
157,107,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R9387:Mroh8
|
UTSW |
2 |
157,098,386 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9453:Mroh8
|
UTSW |
2 |
157,071,948 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9485:Mroh8
|
UTSW |
2 |
157,071,913 (GRCm39) |
missense |
probably benign |
0.34 |
R9652:Mroh8
|
UTSW |
2 |
157,094,970 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAATCACAGTCACTTGTGTTT -3'
(R):5'- CCAGTCTTGTGCAGGAACCATA -3'
Sequencing Primer
(F):5'- CACAGTCACTTGTGTTTTTATTGCTG -3'
(R):5'- GTAGACCAGACTTGCCTTGAACTG -3'
|
Posted On |
2015-04-30 |