Incidental Mutation 'R8316:Mroh8'
ID |
641673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh8
|
Ensembl Gene |
ENSMUSG00000074627 |
Gene Name |
maestro heat-like repeat family member 8 |
Synonyms |
4922505G16Rik |
MMRRC Submission |
067854-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
R8316 (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 T
at 157071879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 542
(T542K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
AlphaFold |
E9PYI4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143663
AA Change: T542K
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124362 Gene: ENSMUSG00000074627 AA Change: T542K
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (56/57) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
C |
10: 78,903,573 (GRCm39) |
C248G |
probably damaging |
Het |
4933427D14Rik |
A |
T |
11: 72,059,612 (GRCm39) |
V693E |
possibly damaging |
Het |
Abcc10 |
G |
T |
17: 46,638,735 (GRCm39) |
L42I |
probably damaging |
Het |
Alb |
A |
G |
5: 90,616,449 (GRCm39) |
E318G |
probably benign |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Aox4 |
T |
A |
1: 58,293,470 (GRCm39) |
C941S |
possibly damaging |
Het |
Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,812,349 (GRCm39) |
T401A |
probably damaging |
Het |
Ccdc57 |
C |
T |
11: 120,776,742 (GRCm39) |
A553T |
probably damaging |
Het |
Celf2 |
C |
T |
2: 6,551,914 (GRCm39) |
D522N |
probably benign |
Het |
Cfap210 |
A |
G |
2: 69,612,287 (GRCm39) |
|
probably null |
Het |
Cmpk2 |
A |
G |
12: 26,524,136 (GRCm39) |
N311S |
probably damaging |
Het |
Dcn |
T |
C |
10: 97,330,939 (GRCm39) |
I91T |
probably damaging |
Het |
Defa30 |
G |
A |
8: 21,624,709 (GRCm39) |
V11I |
probably benign |
Het |
Dnmt3a |
T |
A |
12: 3,946,965 (GRCm39) |
V397E |
probably benign |
Het |
Ehhadh |
G |
A |
16: 21,585,053 (GRCm39) |
A276V |
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,723,791 (GRCm39) |
|
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,818,336 (GRCm39) |
D344G |
probably null |
Het |
H2-T5 |
A |
G |
17: 36,479,154 (GRCm39) |
S32P |
unknown |
Het |
Invs |
G |
T |
4: 48,426,199 (GRCm39) |
R995S |
possibly damaging |
Het |
Itpr3 |
T |
C |
17: 27,325,199 (GRCm39) |
M1264T |
possibly damaging |
Het |
Lzic |
C |
T |
4: 149,572,527 (GRCm39) |
A39V |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,482,650 (GRCm39) |
L516P |
possibly damaging |
Het |
Mecom |
C |
T |
3: 30,011,529 (GRCm39) |
E591K |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,911,944 (GRCm39) |
D1916G |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,578,855 (GRCm39) |
I738T |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,980,746 (GRCm39) |
W1438* |
probably null |
Het |
Msl1 |
A |
T |
11: 98,691,074 (GRCm39) |
K416I |
probably damaging |
Het |
Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
Or51a10 |
A |
T |
7: 103,698,829 (GRCm39) |
V244E |
probably damaging |
Het |
Or5p5 |
G |
T |
7: 107,414,030 (GRCm39) |
V82F |
possibly damaging |
Het |
Or5p58 |
A |
G |
7: 107,694,450 (GRCm39) |
F109S |
probably benign |
Het |
Or6c70 |
A |
G |
10: 129,709,891 (GRCm39) |
V245A |
probably damaging |
Het |
Pdzk1ip1 |
T |
A |
4: 114,946,323 (GRCm39) |
V61D |
probably benign |
Het |
Plcxd1 |
A |
T |
5: 110,250,180 (GRCm39) |
M212L |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,078,361 (GRCm39) |
T7A |
probably benign |
Het |
Ppm1n |
T |
C |
7: 19,012,302 (GRCm39) |
D310G |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,390,641 (GRCm39) |
N1264S |
possibly damaging |
Het |
Pum2 |
T |
A |
12: 8,763,456 (GRCm39) |
N204K |
possibly damaging |
Het |
Recql5 |
G |
A |
11: 115,784,861 (GRCm39) |
T822I |
possibly damaging |
Het |
Rfc1 |
T |
C |
5: 65,436,077 (GRCm39) |
T656A |
probably benign |
Het |
Sacs |
T |
C |
14: 61,427,068 (GRCm39) |
Y159H |
possibly damaging |
Het |
Septin14 |
A |
G |
5: 129,773,194 (GRCm39) |
S148P |
probably damaging |
Het |
Slco1c1 |
T |
A |
6: 141,492,640 (GRCm39) |
M341K |
probably benign |
Het |
Smok2a |
T |
C |
17: 13,445,160 (GRCm39) |
S246P |
probably damaging |
Het |
Spata9 |
C |
A |
13: 76,125,890 (GRCm39) |
S124R |
possibly damaging |
Het |
Sri |
A |
G |
5: 8,113,317 (GRCm39) |
N103D |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,459,622 (GRCm39) |
C3327Y |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,178,370 (GRCm39) |
M353V |
probably benign |
Het |
Trim80 |
A |
T |
11: 115,332,006 (GRCm39) |
E66V |
probably damaging |
Het |
Txndc16 |
A |
G |
14: 45,448,641 (GRCm39) |
L73P |
probably damaging |
Het |
Ugt2b34 |
T |
A |
5: 87,039,249 (GRCm39) |
M471L |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,178,899 (GRCm39) |
V1357L |
probably benign |
Het |
Usp15 |
G |
T |
10: 122,959,848 (GRCm39) |
P855T |
|
Het |
Uspl1 |
C |
T |
5: 149,135,491 (GRCm39) |
T290I |
possibly damaging |
Het |
Zbtb2 |
A |
C |
10: 4,319,084 (GRCm39) |
M314R |
probably benign |
Het |
Zcchc2 |
A |
G |
1: 105,959,844 (GRCm39) |
Y1151C |
probably damaging |
Het |
Zmat3 |
T |
C |
3: 32,395,670 (GRCm39) |
Y279C |
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 |
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 |
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'- TGAAGAATCCAGTCCAGTGTCC -3'
(R):5'- CAGAAATATTGTGTCTTCTATCCCC -3'
Sequencing Primer
(F):5'- GAAGAATCCAGTCCAGTGTCCTTTAG -3'
(R):5'- TCACCCCTCAGAAGATGCTAC -3'
|
Posted On |
2020-07-28 |