Incidental Mutation 'R6008:Mroh8'
| ID |
479576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh8
|
| Ensembl Gene |
ENSMUSG00000074627 |
| Gene Name |
maestro heat-like repeat family member 8 |
| Synonyms |
4922505G16Rik |
| MMRRC Submission |
044185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R6008 (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 G
at 157094984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 334
(I334T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143663]
|
| AlphaFold |
E9PYI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143663
AA Change: I334T
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: I334T
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
98% (55/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,727,978 (GRCm39) |
L1268P |
possibly damaging |
Het |
| Acot3 |
T |
A |
12: 84,103,860 (GRCm39) |
V223E |
probably damaging |
Het |
| Afap1 |
T |
G |
5: 36,154,895 (GRCm39) |
S680A |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,116,672 (GRCm39) |
A801V |
probably damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,710,687 (GRCm39) |
T155K |
probably damaging |
Het |
| Bard1 |
C |
A |
1: 71,069,909 (GRCm39) |
V690F |
possibly damaging |
Het |
| Btnl9 |
C |
A |
11: 49,073,792 (GRCm39) |
|
probably null |
Het |
| C1rl |
A |
G |
6: 124,470,147 (GRCm39) |
N13S |
probably benign |
Het |
| Cad |
C |
A |
5: 31,226,456 (GRCm39) |
T1166K |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,393,334 (GRCm39) |
M405K |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,825,944 (GRCm39) |
|
probably null |
Het |
| Ctnna2 |
A |
G |
6: 76,892,811 (GRCm39) |
L792P |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,438,929 (GRCm39) |
V1099D |
possibly damaging |
Het |
| Dnai2 |
A |
G |
11: 114,643,816 (GRCm39) |
N482S |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,583,890 (GRCm39) |
T184A |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,546 (GRCm39) |
L68H |
probably damaging |
Het |
| Edn3 |
A |
G |
2: 174,621,525 (GRCm39) |
T149A |
probably benign |
Het |
| Erf |
C |
T |
7: 24,945,041 (GRCm39) |
V131M |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,865,118 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,937,099 (GRCm39) |
V161A |
probably benign |
Het |
| Gpr17 |
T |
A |
18: 32,080,530 (GRCm39) |
T178S |
probably benign |
Het |
| Gsg1l2 |
T |
A |
11: 67,665,537 (GRCm39) |
I35N |
possibly damaging |
Het |
| Hmgn3 |
T |
A |
9: 82,994,284 (GRCm39) |
T46S |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,325,717 (GRCm39) |
I4709L |
probably benign |
Het |
| Ifna9 |
A |
T |
4: 88,510,600 (GRCm39) |
L8Q |
probably null |
Het |
| Iftap |
A |
T |
2: 101,413,898 (GRCm39) |
M133K |
possibly damaging |
Het |
| Kpna4 |
T |
C |
3: 69,034,066 (GRCm39) |
E125G |
probably null |
Het |
| Lrriq1 |
A |
G |
10: 103,006,325 (GRCm39) |
S1267P |
probably damaging |
Het |
| Mab21l1 |
G |
T |
3: 55,690,518 (GRCm39) |
C35F |
possibly damaging |
Het |
| Map3k2 |
A |
G |
18: 32,336,104 (GRCm39) |
D97G |
probably damaging |
Het |
| Matcap2 |
G |
A |
9: 22,335,422 (GRCm39) |
W13* |
probably null |
Het |
| Mdn1 |
T |
A |
4: 32,741,073 (GRCm39) |
I3799N |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,299,158 (GRCm39) |
R1959C |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,335,557 (GRCm39) |
H1400L |
possibly damaging |
Het |
| Mroh4 |
T |
A |
15: 74,497,321 (GRCm39) |
K167* |
probably null |
Het |
| Or51a25 |
T |
A |
7: 102,373,574 (GRCm39) |
Y41F |
probably damaging |
Het |
| Phf11d |
T |
A |
14: 59,602,898 (GRCm39) |
|
probably benign |
Het |
| Phf21a |
C |
T |
2: 92,182,097 (GRCm39) |
T342I |
possibly damaging |
Het |
| Pira12 |
G |
T |
7: 3,897,599 (GRCm39) |
H499N |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,055,591 (GRCm39) |
E483G |
possibly damaging |
Het |
| Ppp1r3b |
G |
A |
8: 35,851,355 (GRCm39) |
A65T |
probably damaging |
Het |
| Pramel30 |
C |
T |
4: 144,057,777 (GRCm39) |
T128I |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,496,158 (GRCm39) |
V961A |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,711,561 (GRCm39) |
E96G |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,086,025 (GRCm39) |
E522V |
probably damaging |
Het |
| Socs4 |
T |
G |
14: 47,527,618 (GRCm39) |
C184W |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,553 (GRCm39) |
I304F |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,789,306 (GRCm39) |
I1249V |
possibly damaging |
Het |
| Sys1 |
T |
C |
2: 164,306,507 (GRCm39) |
S154P |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,755,530 (GRCm39) |
Q275R |
possibly damaging |
Het |
| Tas2r107 |
A |
G |
6: 131,636,875 (GRCm39) |
V58A |
possibly damaging |
Het |
| Thada |
T |
A |
17: 84,744,062 (GRCm39) |
I749F |
probably damaging |
Het |
| Tubb1 |
T |
A |
2: 174,299,567 (GRCm39) |
H416Q |
probably benign |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,981 (GRCm39) |
T792I |
probably damaging |
Het |
| Zfp988 |
A |
G |
4: 147,416,259 (GRCm39) |
Q231R |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,684,707 (GRCm39) |
I182V |
possibly damaging |
Het |
| Zzz3 |
T |
C |
3: 152,133,788 (GRCm39) |
V282A |
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 |
|
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 |
|
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'- GCACAGTCCCTGAAGAGTTAC -3'
(R):5'- GATGTAAACCGCTTCATCAGTG -3'
Sequencing Primer
(F):5'- CACAGTCCCTGAAGAGTTACAGAAAG -3'
(R):5'- TTAGAACTCACTCTGTGGACCAGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation