Incidental Mutation 'R6005:Mroh9'
| ID |
479388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh9
|
| Ensembl Gene |
ENSMUSG00000071890 |
| Gene Name |
maestro heat-like repeat family member 9 |
| Synonyms |
4921528O07Rik, Armc11 |
| MMRRC Submission |
044425-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6005 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162851871-162913239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162903246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 52
(F52L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096608]
|
| AlphaFold |
G5E8L9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096608
AA Change: F52L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000094365
Gene: ENSMUSG00000071890
AA Change: F52L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5b_
|
231 |
716 |
2e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.2573 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
99% (79/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
A |
T |
15: 85,378,310 (GRCm39) |
I111N |
unknown |
Het |
| Adgb |
C |
T |
10: 10,271,096 (GRCm39) |
R849H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,992,525 (GRCm39) |
V4603A |
possibly damaging |
Het |
| Ank1 |
A |
G |
8: 23,622,218 (GRCm39) |
D1589G |
probably damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,554 (GRCm39) |
D70G |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,268,853 (GRCm39) |
S989P |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,953,823 (GRCm39) |
Y113* |
probably null |
Het |
| Bfsp2 |
T |
G |
9: 103,325,749 (GRCm39) |
K298T |
probably damaging |
Het |
| Bpi |
G |
A |
2: 158,104,400 (GRCm39) |
V168I |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,566,819 (GRCm39) |
S921P |
probably damaging |
Het |
| Clec4d |
A |
C |
6: 123,244,118 (GRCm39) |
T76P |
probably damaging |
Het |
| Coq8b |
C |
T |
7: 26,956,750 (GRCm39) |
Q468* |
probably null |
Het |
| Dennd6b |
T |
C |
15: 89,072,371 (GRCm39) |
E248G |
possibly damaging |
Het |
| Ednra |
A |
G |
8: 78,401,556 (GRCm39) |
S245P |
possibly damaging |
Het |
| Epb41l4a |
C |
T |
18: 33,961,196 (GRCm39) |
C446Y |
probably benign |
Het |
| Fam221a |
A |
G |
6: 49,344,756 (GRCm39) |
|
probably benign |
Het |
| Fam229a |
T |
C |
4: 129,385,296 (GRCm39) |
S76P |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,240,638 (GRCm39) |
D1321N |
probably damaging |
Het |
| Gata3os |
T |
C |
2: 9,887,638 (GRCm39) |
|
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,769,794 (GRCm39) |
R586H |
probably damaging |
Het |
| Gm94 |
C |
T |
18: 43,925,862 (GRCm39) |
A16T |
possibly damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,521,095 (GRCm39) |
V355A |
probably benign |
Het |
| Grid1 |
C |
A |
14: 35,045,369 (GRCm39) |
T404N |
probably damaging |
Het |
| Gtf2i |
C |
A |
5: 134,284,812 (GRCm39) |
E475* |
probably null |
Het |
| Gucy1a2 |
T |
C |
9: 3,865,518 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,708,924 (GRCm39) |
I153N |
probably damaging |
Het |
| Il11ra1 |
T |
C |
4: 41,763,887 (GRCm39) |
|
probably null |
Het |
| Ireb2 |
G |
A |
9: 54,816,089 (GRCm39) |
G887S |
probably damaging |
Het |
| Kdsr |
T |
C |
1: 106,662,311 (GRCm39) |
E248G |
probably benign |
Het |
| Lemd2 |
C |
G |
17: 27,409,759 (GRCm39) |
R464P |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,333 (GRCm39) |
V246A |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,368,068 (GRCm39) |
D2231V |
possibly damaging |
Het |
| Map2k5 |
C |
T |
9: 63,188,301 (GRCm39) |
D283N |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,189,927 (GRCm39) |
D433G |
possibly damaging |
Het |
| Mir700 |
C |
A |
4: 135,139,618 (GRCm39) |
|
probably null |
Het |
| Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
| Mycbp2 |
A |
C |
14: 103,394,159 (GRCm39) |
S2691A |
probably benign |
Het |
| Myorg |
T |
A |
4: 41,498,895 (GRCm39) |
H245L |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,577,460 (GRCm39) |
|
probably benign |
Het |
| Obsl1 |
C |
A |
1: 75,468,859 (GRCm39) |
|
probably null |
Het |
| Or10ag60 |
A |
T |
2: 87,438,424 (GRCm39) |
I231F |
probably damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,853 (GRCm39) |
I51F |
probably damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,407 (GRCm39) |
V108A |
probably benign |
Het |
| Or7g35 |
C |
T |
9: 19,496,181 (GRCm39) |
T116I |
probably benign |
Het |
| Or8c11 |
T |
C |
9: 38,289,605 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,652,789 (GRCm39) |
I162N |
possibly damaging |
Het |
| Pde1c |
A |
T |
6: 56,456,187 (GRCm39) |
|
probably null |
Het |
| Pds5b |
A |
G |
5: 150,693,241 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
C |
11: 8,807,113 (GRCm39) |
W1568G |
probably damaging |
Het |
| Polr3c |
A |
T |
3: 96,626,784 (GRCm39) |
M258K |
possibly damaging |
Het |
| Pramel23 |
T |
A |
4: 143,425,002 (GRCm39) |
H147L |
probably benign |
Het |
| Prss12 |
A |
T |
3: 123,276,417 (GRCm39) |
I349F |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,644,811 (GRCm39) |
*1177Q |
probably null |
Het |
| Rgs22 |
T |
A |
15: 36,010,713 (GRCm39) |
K1125M |
probably benign |
Het |
| Rnf182 |
A |
G |
13: 43,821,511 (GRCm39) |
K21E |
probably damaging |
Het |
| Rpl6 |
G |
A |
5: 121,343,577 (GRCm39) |
|
probably benign |
Het |
| Samsn1 |
C |
T |
16: 75,670,402 (GRCm39) |
V234I |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,929,600 (GRCm39) |
I1089T |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,511,737 (GRCm39) |
T1092A |
probably damaging |
Het |
| Sh3bp2 |
G |
T |
5: 34,719,809 (GRCm39) |
R606L |
possibly damaging |
Het |
| Sipa1 |
A |
G |
19: 5,706,229 (GRCm39) |
V367A |
probably damaging |
Het |
| Slc25a44 |
C |
T |
3: 88,320,153 (GRCm39) |
E269K |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,142,430 (GRCm39) |
M353K |
possibly damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,176,728 (GRCm39) |
S1142P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,118,024 (GRCm39) |
F352L |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,766,174 (GRCm39) |
N541K |
probably damaging |
Het |
| Tas2r113 |
G |
A |
6: 132,870,659 (GRCm39) |
R229K |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,566,905 (GRCm39) |
I728K |
probably benign |
Het |
| Tcea1 |
A |
G |
1: 4,960,996 (GRCm39) |
E167G |
probably benign |
Het |
| Timeless |
G |
A |
10: 128,080,069 (GRCm39) |
R406H |
probably damaging |
Het |
| Traf6 |
C |
T |
2: 101,527,029 (GRCm39) |
R260* |
probably null |
Het |
| Traj31 |
C |
T |
14: 54,425,388 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,907 (GRCm39) |
V19089D |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,666,416 (GRCm39) |
S1868L |
possibly damaging |
Het |
| Wdr38 |
A |
T |
2: 38,891,333 (GRCm39) |
I287F |
possibly damaging |
Het |
| Wnt2 |
G |
A |
6: 18,030,322 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
G |
A |
6: 119,410,615 (GRCm39) |
P288L |
probably benign |
Het |
| Xkr5 |
G |
T |
8: 18,984,521 (GRCm39) |
N174K |
probably benign |
Het |
| Zbtb6 |
C |
T |
2: 37,318,977 (GRCm39) |
R317Q |
probably damaging |
Het |
| Zcchc7 |
AGGGG |
AGGG |
4: 44,931,218 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Mroh9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:Mroh9
|
APN |
1 |
162,873,350 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00705:Mroh9
|
APN |
1 |
162,907,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00788:Mroh9
|
APN |
1 |
162,852,227 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00795:Mroh9
|
APN |
1 |
162,888,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00815:Mroh9
|
APN |
1 |
162,866,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Mroh9
|
APN |
1 |
162,875,435 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01303:Mroh9
|
APN |
1 |
162,908,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01526:Mroh9
|
APN |
1 |
162,883,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01680:Mroh9
|
APN |
1 |
162,875,551 (GRCm39) |
splice site |
probably null |
|
|
IGL01823:Mroh9
|
APN |
1 |
162,883,178 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02024:Mroh9
|
APN |
1 |
162,890,071 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02213:Mroh9
|
APN |
1 |
162,885,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02455:Mroh9
|
APN |
1 |
162,903,149 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02546:Mroh9
|
APN |
1 |
162,908,145 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03059:Mroh9
|
APN |
1 |
162,852,205 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03061:Mroh9
|
APN |
1 |
162,854,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03071:Mroh9
|
APN |
1 |
162,866,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Mroh9
|
UTSW |
1 |
162,890,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0048:Mroh9
|
UTSW |
1 |
162,890,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0441:Mroh9
|
UTSW |
1 |
162,888,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Mroh9
|
UTSW |
1 |
162,888,205 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0629:Mroh9
|
UTSW |
1 |
162,888,205 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0751:Mroh9
|
UTSW |
1 |
162,893,693 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1301:Mroh9
|
UTSW |
1 |
162,871,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1481:Mroh9
|
UTSW |
1 |
162,854,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Mroh9
|
UTSW |
1 |
162,852,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1647:Mroh9
|
UTSW |
1 |
162,873,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Mroh9
|
UTSW |
1 |
162,873,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Mroh9
|
UTSW |
1 |
162,852,161 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1795:Mroh9
|
UTSW |
1 |
162,884,347 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1796:Mroh9
|
UTSW |
1 |
162,873,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Mroh9
|
UTSW |
1 |
162,866,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1869:Mroh9
|
UTSW |
1 |
162,854,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1923:Mroh9
|
UTSW |
1 |
162,903,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2325:Mroh9
|
UTSW |
1 |
162,854,099 (GRCm39) |
splice site |
probably null |
|
|
R2511:Mroh9
|
UTSW |
1 |
162,866,514 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2912:Mroh9
|
UTSW |
1 |
162,871,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Mroh9
|
UTSW |
1 |
162,871,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Mroh9
|
UTSW |
1 |
162,884,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Mroh9
|
UTSW |
1 |
162,884,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3912:Mroh9
|
UTSW |
1 |
162,893,638 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4034:Mroh9
|
UTSW |
1 |
162,908,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4551:Mroh9
|
UTSW |
1 |
162,871,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4656:Mroh9
|
UTSW |
1 |
162,893,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4662:Mroh9
|
UTSW |
1 |
162,883,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4743:Mroh9
|
UTSW |
1 |
162,852,061 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4890:Mroh9
|
UTSW |
1 |
162,854,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5128:Mroh9
|
UTSW |
1 |
162,888,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Mroh9
|
UTSW |
1 |
162,888,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5147:Mroh9
|
UTSW |
1 |
162,888,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5157:Mroh9
|
UTSW |
1 |
162,871,690 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5324:Mroh9
|
UTSW |
1 |
162,888,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5325:Mroh9
|
UTSW |
1 |
162,888,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Mroh9
|
UTSW |
1 |
162,908,156 (GRCm39) |
start gained |
probably benign |
|
|
R6182:Mroh9
|
UTSW |
1 |
162,893,612 (GRCm39) |
nonsense |
probably null |
|
|
R6414:Mroh9
|
UTSW |
1 |
162,902,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Mroh9
|
UTSW |
1 |
162,903,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6540:Mroh9
|
UTSW |
1 |
162,866,541 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6541:Mroh9
|
UTSW |
1 |
162,885,607 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6643:Mroh9
|
UTSW |
1 |
162,903,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Mroh9
|
UTSW |
1 |
162,873,610 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6830:Mroh9
|
UTSW |
1 |
162,903,935 (GRCm39) |
missense |
probably benign |
|
|
R7026:Mroh9
|
UTSW |
1 |
162,888,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7052:Mroh9
|
UTSW |
1 |
162,866,525 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7068:Mroh9
|
UTSW |
1 |
162,866,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Mroh9
|
UTSW |
1 |
162,903,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7545:Mroh9
|
UTSW |
1 |
162,902,277 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7615:Mroh9
|
UTSW |
1 |
162,873,601 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7743:Mroh9
|
UTSW |
1 |
162,852,122 (GRCm39) |
missense |
probably benign |
|
|
R7808:Mroh9
|
UTSW |
1 |
162,866,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Mroh9
|
UTSW |
1 |
162,866,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8062:Mroh9
|
UTSW |
1 |
162,866,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8145:Mroh9
|
UTSW |
1 |
162,890,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8426:Mroh9
|
UTSW |
1 |
162,852,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8458:Mroh9
|
UTSW |
1 |
162,883,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8555:Mroh9
|
UTSW |
1 |
162,899,595 (GRCm39) |
splice site |
probably null |
|
|
R8960:Mroh9
|
UTSW |
1 |
162,883,196 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9040:Mroh9
|
UTSW |
1 |
162,890,069 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9125:Mroh9
|
UTSW |
1 |
162,875,412 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9154:Mroh9
|
UTSW |
1 |
162,890,030 (GRCm39) |
missense |
|
|
|
R9596:Mroh9
|
UTSW |
1 |
162,893,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9612:Mroh9
|
UTSW |
1 |
162,866,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Mroh9
|
UTSW |
1 |
162,885,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTATGCCAAGACCTTGCC -3'
(R):5'- CTCAGACTATAACTGCATTTCTAGGG -3'
Sequencing Primer
(F):5'- GTGTATGCCAAGACCTTGCCATTAG -3'
(R):5'- TGATTTCTAAACAACTGCATACCAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation