Incidental Mutation 'R9002:Mroh8'
| ID |
685007 |
| 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 # |
R9002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
157050470-157121469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 157058939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 909
(V909G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
| AlphaFold |
E9PYI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143663
AA Change: V909G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: V909G
| 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: 99.2%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,241,926 (GRCm39) |
M1263K |
possibly damaging |
Het |
| Abca8b |
C |
T |
11: 109,843,456 (GRCm39) |
D985N |
probably benign |
Het |
| Ak5 |
A |
T |
3: 152,359,091 (GRCm39) |
M207K |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,626,048 (GRCm39) |
I75V |
probably benign |
Het |
| Ank |
T |
A |
15: 27,544,413 (GRCm39) |
L58* |
probably null |
Het |
| Ap1g1 |
A |
C |
8: 110,581,738 (GRCm39) |
T666P |
probably benign |
Het |
| Ap3b2 |
A |
T |
7: 81,117,192 (GRCm39) |
S615T |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,888,715 (GRCm39) |
R198L |
probably benign |
Het |
| Axl |
A |
T |
7: 25,478,103 (GRCm39) |
C199S |
probably damaging |
Het |
| C1d |
T |
C |
11: 17,212,787 (GRCm39) |
L44S |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,449,032 (GRCm39) |
L1186P |
probably benign |
Het |
| Ctdsp2 |
T |
A |
10: 126,832,061 (GRCm39) |
I223N |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,920,822 (GRCm39) |
D4671V |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,504,438 (GRCm39) |
I799N |
probably damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,519,660 (GRCm39) |
T282I |
probably damaging |
Het |
| Fmo2 |
A |
T |
1: 162,705,647 (GRCm39) |
C397* |
probably null |
Het |
| Gbp10 |
C |
A |
5: 105,369,847 (GRCm39) |
V262L |
probably benign |
Het |
| Gm45871 |
A |
T |
18: 90,609,968 (GRCm39) |
H402L |
probably damaging |
Het |
| Has1 |
T |
C |
17: 18,063,912 (GRCm39) |
S576G |
unknown |
Het |
| Hat1 |
C |
T |
2: 71,271,647 (GRCm39) |
R407W |
probably damaging |
Het |
| Hivep2 |
G |
T |
10: 14,008,157 (GRCm39) |
R1585L |
probably benign |
Het |
| Ifi211 |
A |
G |
1: 173,733,894 (GRCm39) |
V89A |
possibly damaging |
Het |
| Igkv4-59 |
T |
C |
6: 69,415,475 (GRCm39) |
T27A |
possibly damaging |
Het |
| Irf9 |
T |
A |
14: 55,845,140 (GRCm39) |
N333K |
possibly damaging |
Het |
| Jakmip2 |
C |
T |
18: 43,715,323 (GRCm39) |
V68I |
probably benign |
Het |
| Kif1b |
T |
G |
4: 149,275,712 (GRCm39) |
I1400L |
probably damaging |
Het |
| Kif2b |
C |
T |
11: 91,467,053 (GRCm39) |
C410Y |
probably benign |
Het |
| Klk1b16 |
T |
C |
7: 43,790,189 (GRCm39) |
L153P |
possibly damaging |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,838,311 (GRCm39) |
C855R |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,904 (GRCm39) |
L947P |
probably damaging |
Het |
| Mblac2 |
C |
A |
13: 81,860,072 (GRCm39) |
A142E |
possibly damaging |
Het |
| Mppe1 |
A |
G |
18: 67,358,925 (GRCm39) |
S348P |
possibly damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Nek10 |
T |
C |
14: 14,980,590 (GRCm38) |
L982P |
probably damaging |
Het |
| Nlrp4b |
C |
T |
7: 10,448,886 (GRCm39) |
T363I |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,408,134 (GRCm39) |
E120G |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,423 (GRCm39) |
S163P |
probably damaging |
Het |
| Or2n1c |
A |
T |
17: 38,519,555 (GRCm39) |
N140Y |
probably benign |
Het |
| Or51a7 |
A |
T |
7: 102,614,618 (GRCm39) |
I104F |
probably damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,742,198 (GRCm39) |
I222V |
probably damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,171 (GRCm39) |
M1K |
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,241 (GRCm39) |
T216A |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,419,060 (GRCm39) |
L812Q |
probably damaging |
Het |
| Pdxp |
T |
A |
15: 78,802,459 (GRCm39) |
M231K |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,117,317 (GRCm39) |
L1368P |
|
Het |
| Ppie |
T |
C |
4: 123,024,344 (GRCm39) |
N171S |
possibly damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,865,356 (GRCm39) |
H657R |
probably benign |
Het |
| Sarnp |
T |
A |
10: 128,657,842 (GRCm39) |
|
probably null |
Het |
| Serpinb9c |
T |
C |
13: 33,334,329 (GRCm39) |
T266A |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,757,854 (GRCm39) |
I218F |
possibly damaging |
Het |
| Susd1 |
C |
A |
4: 59,324,882 (GRCm39) |
W717L |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,771,402 (GRCm39) |
Y88C |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,661,308 (GRCm39) |
F624Y |
probably damaging |
Het |
| Tnni2 |
A |
G |
7: 141,998,013 (GRCm39) |
E172G |
probably damaging |
Het |
| Traf3ip1 |
T |
C |
1: 91,433,178 (GRCm39) |
S316P |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,504,548 (GRCm39) |
N495K |
possibly damaging |
Het |
| Ulk3 |
C |
A |
9: 57,500,542 (GRCm39) |
A317E |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,275,412 (GRCm39) |
V2229A |
possibly damaging |
Het |
| Usp32 |
G |
A |
11: 84,944,777 (GRCm39) |
R304C |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,935,063 (GRCm39) |
G28D |
probably benign |
Het |
| Vmn1r41 |
A |
G |
6: 89,724,109 (GRCm39) |
K217E |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,284 (GRCm39) |
K676M |
probably benign |
Het |
| Vnn1 |
A |
G |
10: 23,775,349 (GRCm39) |
T200A |
possibly damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,302,176 (GRCm39) |
L698P |
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 |
|
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 |
|
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'- GTGCCATGTGTCTCAGCTAAAAG -3'
(R):5'- CATTGTGTTCACACCTTGCAGG -3'
Sequencing Primer
(F):5'- GCTAAAAGCTATCAGAAAAGCAAGC -3'
(R):5'- TCCTTCAGCGTCTTCAGGAGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation