Incidental Mutation 'R9021:Mroh8'
| ID |
686187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh8
|
| Ensembl Gene |
ENSMUSG00000074627 |
| Gene Name |
maestro heat-like repeat family member 8 |
| Synonyms |
4922505G16Rik |
| MMRRC Submission |
068851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R9021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
157050470-157121469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 157064787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 763
(V763E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
| AlphaFold |
E9PYI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143663
AA Change: V763E
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: V763E
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (64/65) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 104,003,864 (GRCm39) |
D770G |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,284,071 (GRCm39) |
G200D |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,253,999 (GRCm39) |
L170H |
possibly damaging |
Het |
| Asap3 |
T |
C |
4: 135,966,299 (GRCm39) |
|
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,094,712 (GRCm39) |
M595K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,052,493 (GRCm39) |
D3064E |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,445,679 (GRCm39) |
Y522* |
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,448,877 (GRCm39) |
Y81F |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,091,393 (GRCm39) |
M1616K |
probably benign |
Het |
| Clint1 |
T |
A |
11: 45,797,042 (GRCm39) |
S374R |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,586,745 (GRCm39) |
F1759I |
possibly damaging |
Het |
| Crocc |
T |
A |
4: 140,749,674 (GRCm39) |
I1487F |
probably benign |
Het |
| Dll4 |
TC |
T |
2: 119,163,054 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,402,490 (GRCm39) |
I1230T |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,808 (GRCm39) |
I2518L |
possibly damaging |
Het |
| Eps8l2 |
G |
T |
7: 140,936,117 (GRCm39) |
V224L |
possibly damaging |
Het |
| Etv1 |
T |
C |
12: 38,830,971 (GRCm39) |
V13A |
probably benign |
Het |
| Fam78a |
T |
C |
2: 31,959,313 (GRCm39) |
M266V |
probably benign |
Het |
| Fam81a |
A |
G |
9: 70,017,538 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,709,620 (GRCm39) |
I245V |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,949,805 (GRCm39) |
V378A |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,888,609 (GRCm39) |
S2718R |
probably damaging |
Het |
| Gata3os |
T |
A |
2: 9,887,345 (GRCm39) |
|
probably benign |
Het |
| Gm14305 |
A |
G |
2: 176,413,167 (GRCm39) |
K353R |
possibly damaging |
Het |
| Inppl1 |
A |
C |
7: 101,480,915 (GRCm39) |
V315G |
probably damaging |
Het |
| Kbtbd6 |
A |
T |
14: 79,690,822 (GRCm39) |
I506F |
probably damaging |
Het |
| Klf6 |
G |
C |
13: 5,915,160 (GRCm39) |
G200R |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,518,930 (GRCm39) |
I45T |
probably benign |
Het |
| Lrriq4 |
T |
G |
3: 30,704,401 (GRCm39) |
V143G |
probably benign |
Het |
| Map2k2 |
G |
T |
10: 80,955,159 (GRCm39) |
G217C |
probably damaging |
Het |
| Mcm10 |
T |
C |
2: 4,997,782 (GRCm39) |
N813S |
probably benign |
Het |
| Mfng |
T |
A |
15: 78,657,348 (GRCm39) |
N42I |
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,361,141 (GRCm39) |
D808G |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,673,632 (GRCm39) |
F99L |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,551,752 (GRCm39) |
P193T |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,821,142 (GRCm39) |
D447G |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,807,284 (GRCm39) |
|
probably benign |
Het |
| Narf |
C |
A |
11: 121,136,209 (GRCm39) |
P195Q |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,818,745 (GRCm39) |
F496I |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,360,772 (GRCm39) |
Y225C |
probably damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,428 (GRCm39) |
Y118* |
probably null |
Het |
| Or11h4 |
T |
G |
14: 50,974,554 (GRCm39) |
I22L |
probably benign |
Het |
| Or2i1 |
G |
T |
17: 37,508,380 (GRCm39) |
R85S |
possibly damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,807,939 (GRCm39) |
A65V |
unknown |
Het |
| Pdcd2l |
A |
G |
7: 33,885,760 (GRCm39) |
L308P |
probably damaging |
Het |
| Pitx2 |
T |
A |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
| Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,980,183 (GRCm39) |
N180S |
possibly damaging |
Het |
| Poln |
T |
A |
5: 34,286,485 (GRCm39) |
M228L |
probably benign |
Het |
| Prex1 |
C |
A |
2: 166,432,429 (GRCm39) |
V707F |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 157,058,514 (GRCm39) |
V12D |
unknown |
Het |
| Ripk1 |
A |
G |
13: 34,205,373 (GRCm39) |
E284G |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,499,251 (GRCm39) |
W107R |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,954,177 (GRCm39) |
Y159C |
probably damaging |
Het |
| Serpina1a |
A |
T |
12: 103,824,293 (GRCm39) |
W30R |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,065,579 (GRCm39) |
V325A |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,371,396 (GRCm39) |
R294G |
probably benign |
Het |
| Supt5 |
A |
T |
7: 28,016,671 (GRCm39) |
I737N |
probably damaging |
Het |
| Thap11 |
T |
C |
8: 106,582,660 (GRCm39) |
V223A |
probably damaging |
Het |
| Trabd |
T |
A |
15: 88,968,913 (GRCm39) |
S144T |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,933,949 (GRCm39) |
S701T |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,986 (GRCm39) |
P215S |
possibly damaging |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,749 (GRCm39) |
L211F |
probably damaging |
Het |
| Vmn2r86 |
A |
C |
10: 130,282,934 (GRCm39) |
Y561D |
probably damaging |
Het |
| Zfp384 |
C |
A |
6: 125,013,336 (GRCm39) |
A468E |
|
Het |
| Zfp658 |
A |
G |
7: 43,223,381 (GRCm39) |
H552R |
possibly damaging |
Het |
| Zranb2 |
T |
C |
3: 157,250,720 (GRCm39) |
V297A |
unknown |
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 |
|
R9002:Mroh8
|
UTSW |
2 |
157,058,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAGCTTCCAGGGTATGTTCG -3'
(R):5'- GGACCACTCTAGGCTTACAGTAG -3'
Sequencing Primer
(F):5'- CGGGGTTGTTCTTTCATTAGCTAG -3'
(R):5'- AGGCTTACAGTAGATATTTCATCTCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation