Incidental Mutation 'R5464:Mroh8'
| ID |
433140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh8
|
| Ensembl Gene |
ENSMUSG00000074627 |
| Gene Name |
maestro heat-like repeat family member 8 |
| Synonyms |
4922505G16Rik |
| MMRRC Submission |
042850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R5464 (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 157063150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 824
(I824F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
| AlphaFold |
E9PYI4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141081
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143663
AA Change: I824F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: I824F
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| Acsl1 |
T |
A |
8: 46,958,775 (GRCm39) |
D95E |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamts16 |
T |
A |
13: 70,909,868 (GRCm39) |
H895L |
probably benign |
Het |
| Alox12e |
T |
C |
11: 70,208,505 (GRCm39) |
Y483C |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,733,381 (GRCm39) |
F952I |
probably damaging |
Het |
| Crot |
T |
G |
5: 9,033,690 (GRCm39) |
|
probably null |
Het |
| Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
| Eps8 |
C |
T |
6: 137,504,473 (GRCm39) |
G87R |
probably damaging |
Het |
| Flg2 |
C |
A |
3: 93,109,277 (GRCm39) |
T435K |
possibly damaging |
Het |
| Gpatch4 |
T |
C |
3: 87,962,062 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,448,524 (GRCm39) |
M1795K |
probably benign |
Het |
| Ift52 |
T |
C |
2: 162,871,735 (GRCm39) |
V189A |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,878,058 (GRCm39) |
D250V |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,622 (GRCm39) |
T474A |
probably benign |
Het |
| Mcub |
T |
C |
3: 129,709,365 (GRCm39) |
E316G |
probably benign |
Het |
| Mettl15 |
C |
T |
2: 109,021,967 (GRCm39) |
V113I |
probably benign |
Het |
| Mrpl19 |
A |
G |
6: 81,938,992 (GRCm39) |
M270T |
probably damaging |
Het |
| Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
| Or10d4 |
A |
T |
9: 39,581,066 (GRCm39) |
T238S |
probably damaging |
Het |
| Or4ac1-ps1 |
T |
C |
2: 88,370,599 (GRCm39) |
Y58C |
probably null |
Het |
| Or51a25 |
A |
G |
7: 102,373,124 (GRCm39) |
V191A |
possibly damaging |
Het |
| Or51a39 |
T |
C |
7: 102,362,889 (GRCm39) |
T244A |
probably benign |
Het |
| Or51a43 |
C |
A |
7: 103,717,674 (GRCm39) |
R188L |
possibly damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or52a24 |
T |
A |
7: 103,381,396 (GRCm39) |
W88R |
probably damaging |
Het |
| Or5ak23 |
AAGTCTGGAGTC |
AAGTC |
2: 85,245,057 (GRCm39) |
|
probably null |
Het |
| Or6x1 |
T |
C |
9: 40,099,080 (GRCm39) |
I223T |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,197,235 (GRCm39) |
M430V |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,278,176 (GRCm39) |
S243P |
probably damaging |
Het |
| Ppp1r36 |
A |
T |
12: 76,474,852 (GRCm39) |
|
probably null |
Het |
| Prdm16 |
T |
A |
4: 154,430,601 (GRCm39) |
|
probably null |
Het |
| Prss36 |
A |
T |
7: 127,533,405 (GRCm39) |
W97R |
probably damaging |
Het |
| Psmg4 |
A |
T |
13: 34,362,047 (GRCm39) |
I112F |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,499,868 (GRCm39) |
G1259R |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,337 (GRCm39) |
I416T |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,532,100 (GRCm39) |
R571C |
probably damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,851,727 (GRCm39) |
M423V |
probably benign |
Het |
| Serpina3i |
G |
A |
12: 104,234,751 (GRCm39) |
A361T |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,199,434 (GRCm39) |
D362E |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,622,033 (GRCm39) |
|
probably null |
Het |
| Sgcg |
A |
G |
14: 61,474,304 (GRCm39) |
V113A |
possibly damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,691,008 (GRCm39) |
K74R |
probably damaging |
Het |
| Smco1 |
T |
A |
16: 32,092,694 (GRCm39) |
W122R |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,339,269 (GRCm39) |
K136E |
possibly damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,625 (GRCm39) |
N394S |
probably damaging |
Het |
| Uqcrb |
T |
C |
13: 67,048,889 (GRCm39) |
D87G |
probably damaging |
Het |
| Wipf3 |
T |
C |
6: 54,462,308 (GRCm39) |
S173P |
possibly damaging |
Het |
| Zfp473 |
T |
C |
7: 44,382,062 (GRCm39) |
E756G |
probably 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 |
|
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'- TGTGAAGATCTCAATGGCCTC -3'
(R):5'- TAGTAGCGAGAGGGCTAGTC -3'
Sequencing Primer
(F):5'- TGAAGATCTCAATGGCCTCTAAAAAC -3'
(R):5'- AGAGGGCTAGTCCACCTCTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation