Incidental Mutation 'PIT4449001:Mroh8'
| ID |
555723 |
| 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 # |
PIT4449001 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
157050470-157121469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 157067454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 635
(Q635L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
| AlphaFold |
E9PYI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143663
AA Change: Q635L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: Q635L
| 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: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
| BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,148,720 (GRCm39) |
E236G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
| Cyp2j7 |
G |
T |
4: 96,103,575 (GRCm39) |
T320K |
probably damaging |
Het |
| Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
| Dhx15 |
A |
G |
5: 52,318,300 (GRCm39) |
V510A |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,186,988 (GRCm39) |
K507N |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
| Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
| Gipr |
C |
T |
7: 18,894,543 (GRCm39) |
R253H |
probably benign |
Het |
| Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
| Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
| Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,239 (GRCm39) |
V59A |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
| Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
| Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
| Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
| Tbrg4 |
T |
C |
11: 6,569,689 (GRCm39) |
Q309R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
| Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
| Tufm |
T |
C |
7: 126,086,621 (GRCm39) |
M1T |
probably null |
Het |
| Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
| Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
probably benign |
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 |
|
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 |
|
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'- GGACCACGACTATCCTTCAG -3'
(R):5'- TTATTGCCGGCCACCTAAGG -3'
Sequencing Primer
(F):5'- GACTATCCTTCAGACTACTACAGTG -3'
(R):5'- AAGGACCACTTTACTATTCCCTGTAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation