Incidental Mutation 'R4492:Mroh8'
| ID |
330765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh8
|
| Ensembl Gene |
ENSMUSG00000074627 |
| Gene Name |
maestro heat-like repeat family member 8 |
| Synonyms |
4922505G16Rik |
| MMRRC Submission |
041581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R4492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
157050470-157121469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 157099960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 248
(I248N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
| AlphaFold |
E9PYI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143663
AA Change: I248N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: I248N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147602
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
T |
G |
10: 89,561,676 (GRCm39) |
I157L |
probably benign |
Het |
| Amph |
T |
C |
13: 19,333,928 (GRCm39) |
V663A |
possibly damaging |
Het |
| Anapc16 |
A |
G |
10: 59,826,724 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ank3 |
T |
A |
10: 69,644,755 (GRCm39) |
V60D |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,746,545 (GRCm39) |
Y94H |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,063,017 (GRCm39) |
I191T |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,436,929 (GRCm39) |
L668P |
probably damaging |
Het |
| Cyp2d22 |
G |
A |
15: 82,258,571 (GRCm39) |
H97Y |
probably benign |
Het |
| Dhrs7 |
A |
T |
12: 72,699,899 (GRCm39) |
N244K |
probably damaging |
Het |
| Dusp4 |
C |
T |
8: 35,274,890 (GRCm39) |
T3M |
possibly damaging |
Het |
| Edc4 |
GGATTTTAGCCA |
G |
8: 106,611,700 (GRCm39) |
|
probably null |
Het |
| Etl4 |
G |
A |
2: 20,811,676 (GRCm39) |
S1621N |
possibly damaging |
Het |
| Fam174a |
T |
C |
1: 95,241,701 (GRCm39) |
S54P |
probably benign |
Het |
| Fdxacb1 |
T |
C |
9: 50,681,547 (GRCm39) |
F7S |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,812,468 (GRCm39) |
L268H |
probably damaging |
Het |
| Gpr17 |
A |
T |
18: 32,080,304 (GRCm39) |
I253N |
possibly damaging |
Het |
| H2-T23 |
A |
T |
17: 36,343,058 (GRCm39) |
N106K |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,171,296 (GRCm39) |
R303G |
probably damaging |
Het |
| Irgm1 |
G |
A |
11: 48,756,955 (GRCm39) |
|
silent |
Het |
| Jph1 |
A |
C |
1: 17,067,770 (GRCm39) |
I114S |
probably damaging |
Het |
| Kcna1 |
C |
T |
6: 126,619,238 (GRCm39) |
D361N |
possibly damaging |
Het |
| Kcna4 |
G |
A |
2: 107,126,436 (GRCm39) |
R390Q |
probably damaging |
Het |
| Lum |
C |
A |
10: 97,404,300 (GRCm39) |
P65H |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,711 (GRCm39) |
L134P |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,840,921 (GRCm39) |
T677A |
probably benign |
Het |
| Nup37 |
T |
A |
10: 88,010,791 (GRCm39) |
F257I |
possibly damaging |
Het |
| Or13c3 |
T |
C |
4: 52,855,764 (GRCm39) |
I250V |
probably benign |
Het |
| Or6k6 |
C |
T |
1: 173,944,770 (GRCm39) |
V271I |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,419,567 (GRCm39) |
M501R |
possibly damaging |
Het |
| Pitx1 |
T |
C |
13: 55,976,465 (GRCm39) |
K65E |
probably benign |
Het |
| Pla1a |
C |
T |
16: 38,229,972 (GRCm39) |
A247T |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Prss8 |
A |
G |
7: 127,528,979 (GRCm39) |
S26P |
probably damaging |
Het |
| Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,027,684 (GRCm39) |
C1334S |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,613,146 (GRCm39) |
W385R |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,821,263 (GRCm39) |
M249T |
probably benign |
Het |
| Srsf9 |
T |
A |
5: 115,470,651 (GRCm39) |
I117N |
probably damaging |
Het |
| Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,770,346 (GRCm39) |
V139A |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,648,125 (GRCm39) |
V1012D |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,815,929 (GRCm39) |
Q379K |
probably damaging |
Het |
| Zfp930 |
C |
T |
8: 69,680,898 (GRCm39) |
Q198* |
probably null |
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 |
|
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'- TGACAGTGTTGGAGCAGAC -3'
(R):5'- TCTATGGAGCTGAGAGTAGGGC -3'
Sequencing Primer
(F):5'- CAGACTTGTCACAGTGCATG -3'
(R):5'- AGCTGAGAGTAGGGCTCCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation