Incidental Mutation 'R7024:Mroh8'
ID |
545826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh8
|
Ensembl Gene |
ENSMUSG00000074627 |
Gene Name |
maestro heat-like repeat family member 8 |
Synonyms |
4922505G16Rik |
MMRRC Submission |
045125-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
R7024 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
157050470-157121469 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 157063183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 813
(H813Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
AlphaFold |
E9PYI4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000143663
AA Change: H813Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124362 Gene: ENSMUSG00000074627 AA Change: H813Y
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (61/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
A |
G |
16: 88,424,108 (GRCm39) |
S128P |
probably damaging |
Het |
Abcc1 |
G |
C |
16: 14,231,247 (GRCm39) |
|
probably null |
Het |
Atg2a |
G |
A |
19: 6,300,249 (GRCm39) |
G686S |
possibly damaging |
Het |
Atrnl1 |
A |
T |
19: 57,626,882 (GRCm39) |
|
probably null |
Het |
Brd4 |
T |
C |
17: 32,440,884 (GRCm39) |
|
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,658,242 (GRCm39) |
E688G |
probably damaging |
Het |
Cc2d2a |
T |
A |
5: 43,891,271 (GRCm39) |
S1402R |
probably benign |
Het |
Ccnb1 |
A |
G |
13: 100,922,888 (GRCm39) |
|
probably null |
Het |
Cdc42bpb |
G |
A |
12: 111,292,519 (GRCm39) |
H339Y |
probably damaging |
Het |
Ciart |
T |
A |
3: 95,786,392 (GRCm39) |
T94S |
probably benign |
Het |
Col6a5 |
T |
A |
9: 105,789,674 (GRCm39) |
K1540* |
probably null |
Het |
Csmd3 |
A |
T |
15: 47,574,387 (GRCm39) |
V1969E |
probably damaging |
Het |
Dgka |
T |
G |
10: 128,556,356 (GRCm39) |
N710T |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,731,666 (GRCm39) |
V1212A |
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,928,278 (GRCm39) |
V116A |
possibly damaging |
Het |
En1 |
C |
T |
1: 120,531,051 (GRCm39) |
P97L |
unknown |
Het |
Esd |
T |
A |
14: 74,982,102 (GRCm39) |
F172L |
probably damaging |
Het |
Gfer |
C |
A |
17: 24,914,942 (GRCm39) |
D34Y |
probably damaging |
Het |
Gm2832 |
G |
A |
14: 41,001,696 (GRCm39) |
M68I |
|
Het |
Hmgcr |
A |
G |
13: 96,795,418 (GRCm39) |
S384P |
probably benign |
Het |
Hsp90aa1 |
T |
C |
12: 110,660,546 (GRCm39) |
T299A |
possibly damaging |
Het |
Igsf10 |
A |
G |
3: 59,239,122 (GRCm39) |
M353T |
probably benign |
Het |
Ino80b |
T |
C |
6: 83,099,306 (GRCm39) |
T211A |
probably benign |
Het |
Lamb2 |
C |
A |
9: 108,366,687 (GRCm39) |
T1607K |
probably benign |
Het |
Lhfpl5 |
A |
G |
17: 28,801,957 (GRCm39) |
E218G |
probably benign |
Het |
Lpo |
C |
A |
11: 87,707,269 (GRCm39) |
C248F |
probably damaging |
Het |
Lrrc3 |
C |
T |
10: 77,736,825 (GRCm39) |
D204N |
probably damaging |
Het |
Mavs |
C |
A |
2: 131,085,051 (GRCm39) |
L160I |
probably benign |
Het |
Morn4 |
C |
T |
19: 42,066,483 (GRCm39) |
D35N |
possibly damaging |
Het |
Myf6 |
T |
C |
10: 107,330,390 (GRCm39) |
E59G |
probably damaging |
Het |
Nhsl3 |
T |
A |
4: 129,119,201 (GRCm39) |
E173V |
probably null |
Het |
Nlrp10 |
T |
A |
7: 108,524,405 (GRCm39) |
E358D |
possibly damaging |
Het |
Odad2 |
A |
C |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
Optn |
T |
C |
2: 5,057,648 (GRCm39) |
|
probably null |
Het |
Or12e8 |
A |
G |
2: 87,188,066 (GRCm39) |
T93A |
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,902,759 (GRCm39) |
I49T |
possibly damaging |
Het |
Or1e1d-ps1 |
T |
A |
11: 73,819,332 (GRCm39) |
L94* |
probably null |
Het |
Or1o1 |
T |
C |
17: 37,717,095 (GRCm39) |
F219L |
probably benign |
Het |
Or5g9 |
T |
A |
2: 85,551,952 (GRCm39) |
F68I |
probably damaging |
Het |
Or7g28 |
T |
C |
9: 19,272,579 (GRCm39) |
E24G |
possibly damaging |
Het |
Plxna4 |
T |
A |
6: 32,169,204 (GRCm39) |
H1331L |
probably damaging |
Het |
Poli |
A |
T |
18: 70,649,920 (GRCm39) |
M357K |
possibly damaging |
Het |
Psd4 |
T |
G |
2: 24,284,555 (GRCm39) |
C140G |
possibly damaging |
Het |
Rab3gap1 |
T |
A |
1: 127,818,835 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,681,826 (GRCm39) |
N41S |
probably benign |
Het |
Rps6kc1 |
A |
G |
1: 190,532,407 (GRCm39) |
S532P |
probably benign |
Het |
S100a3 |
T |
A |
3: 90,509,747 (GRCm39) |
|
probably null |
Het |
Sfrp5 |
T |
C |
19: 42,190,204 (GRCm39) |
K83E |
possibly damaging |
Het |
Slco1a4 |
T |
C |
6: 141,780,434 (GRCm39) |
I119V |
probably benign |
Het |
Snx15 |
T |
A |
19: 6,170,626 (GRCm39) |
Q271L |
probably damaging |
Het |
Sorcs2 |
C |
A |
5: 36,178,605 (GRCm39) |
S1128I |
probably damaging |
Het |
Tbc1d7 |
A |
T |
13: 43,308,211 (GRCm39) |
F85I |
probably damaging |
Het |
Thoc7 |
A |
G |
14: 13,953,528 (GRCm38) |
Y46H |
probably damaging |
Het |
Top1mt |
T |
A |
15: 75,539,297 (GRCm39) |
Y366F |
probably damaging |
Het |
Trpv2 |
C |
A |
11: 62,475,287 (GRCm39) |
S233R |
probably benign |
Het |
Vav1 |
C |
A |
17: 57,586,268 (GRCm39) |
T24N |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdfy4 |
G |
T |
14: 32,686,583 (GRCm39) |
|
probably null |
Het |
Wdr3 |
A |
G |
3: 100,062,313 (GRCm39) |
S201P |
probably benign |
Het |
Wfs1 |
C |
T |
5: 37,124,294 (GRCm39) |
D866N |
probably damaging |
Het |
Wnk1 |
A |
T |
6: 119,942,687 (GRCm39) |
|
probably benign |
Het |
Xpot |
G |
T |
10: 121,438,304 (GRCm39) |
Q762K |
probably benign |
Het |
Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
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 |
R4030:Mroh8
|
UTSW |
2 |
157,055,640 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ACTGTCTCAATATCTACTTGCTGGC -3'
(R):5'- CCTCTACATATCAGGTGTGACCC -3'
Sequencing Primer
(F):5'- AATATCTACTTGCTGGCAGGCAC -3'
(R):5'- CATATCAGGTGTGACCCTAGTAGC -3'
|
Posted On |
2019-05-13 |