Incidental Mutation 'R8024:Mroh9'
| ID |
617553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh9
|
| Ensembl Gene |
ENSMUSG00000071890 |
| Gene Name |
maestro heat-like repeat family member 9 |
| Synonyms |
4921528O07Rik, Armc11 |
| MMRRC Submission |
067463-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8024 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162851871-162913239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 162866802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 645
(N645D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096608]
|
| AlphaFold |
G5E8L9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096608
AA Change: N645D
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000094365
Gene: ENSMUSG00000071890
AA Change: N645D
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5b_
|
231 |
716 |
2e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,760,713 (GRCm39) |
N1257Y |
probably benign |
Het |
| 2310057J18Rik |
A |
T |
10: 28,858,591 (GRCm39) |
Y133* |
probably null |
Het |
| 2310057J18Rik |
A |
C |
10: 28,862,213 (GRCm39) |
S26A |
possibly damaging |
Het |
| 9930012K11Rik |
G |
T |
14: 70,394,116 (GRCm39) |
P220T |
probably damaging |
Het |
| Adam1b |
A |
C |
5: 121,638,986 (GRCm39) |
S686R |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,567,489 (GRCm39) |
D418G |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,792,095 (GRCm39) |
L287P |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,634,080 (GRCm39) |
M373K |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,438,106 (GRCm39) |
S1096G |
probably benign |
Het |
| Ankmy1 |
A |
G |
1: 92,812,716 (GRCm39) |
V531A |
probably benign |
Het |
| Ano3 |
C |
T |
2: 110,498,128 (GRCm39) |
E738K |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,807,194 (GRCm39) |
I796F |
probably damaging |
Het |
| Apeh |
T |
C |
9: 107,969,790 (GRCm39) |
E190G |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,608,317 (GRCm39) |
Y123H |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,165,622 (GRCm39) |
L346P |
probably damaging |
Het |
| Ccdc9b |
A |
G |
2: 118,591,005 (GRCm39) |
|
probably null |
Het |
| Clec2e |
G |
A |
6: 129,071,388 (GRCm39) |
H150Y |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,056,042 (GRCm39) |
N318Y |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,196 (GRCm39) |
F91L |
probably damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,835 (GRCm39) |
E1147V |
probably damaging |
Het |
| Elmo2 |
T |
C |
2: 165,133,775 (GRCm39) |
T738A |
unknown |
Het |
| Exoc4 |
T |
A |
6: 33,324,866 (GRCm39) |
W387R |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,315,237 (GRCm39) |
V1379A |
unknown |
Het |
| Frmd4a |
T |
C |
2: 4,608,513 (GRCm39) |
S794P |
probably damaging |
Het |
| Ftl1-ps1 |
A |
G |
13: 74,555,170 (GRCm39) |
T150A |
probably benign |
Het |
| Gm43517 |
A |
T |
12: 49,436,409 (GRCm39) |
|
probably benign |
Het |
| Gm5773 |
C |
T |
3: 93,680,475 (GRCm39) |
A49V |
probably benign |
Het |
| Helz |
T |
A |
11: 107,577,247 (GRCm39) |
L1867Q |
unknown |
Het |
| Il22ra1 |
A |
G |
4: 135,461,589 (GRCm39) |
H118R |
probably benign |
Het |
| Inf2 |
C |
T |
12: 112,575,336 (GRCm39) |
P856S |
unknown |
Het |
| Ints5 |
T |
A |
19: 8,873,504 (GRCm39) |
L488I |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,755,634 (GRCm39) |
M296T |
possibly damaging |
Het |
| Kifc1 |
G |
A |
17: 34,102,177 (GRCm39) |
R479C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,202,708 (GRCm39) |
C289* |
probably null |
Het |
| Mael |
A |
G |
1: 166,054,196 (GRCm39) |
L196S |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,755,581 (GRCm39) |
S229R |
possibly damaging |
Het |
| Myom3 |
G |
A |
4: 135,529,059 (GRCm39) |
V1132I |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,308,769 (GRCm39) |
|
probably benign |
Het |
| Ndufa13 |
A |
T |
8: 70,347,187 (GRCm39) |
L71H |
probably damaging |
Het |
| Nepro |
A |
T |
16: 44,551,778 (GRCm39) |
H212L |
probably benign |
Het |
| Nmd3 |
T |
A |
3: 69,637,298 (GRCm39) |
|
probably benign |
Het |
| Nox4 |
T |
A |
7: 86,954,118 (GRCm39) |
L141Q |
probably damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,390 (GRCm39) |
E102G |
probably benign |
Het |
| Or5p53 |
T |
C |
7: 107,533,645 (GRCm39) |
V306A |
probably benign |
Het |
| Or5p58 |
T |
A |
7: 107,694,496 (GRCm39) |
T94S |
probably benign |
Het |
| Or6c215 |
T |
G |
10: 129,637,812 (GRCm39) |
E194A |
probably damaging |
Het |
| Or8s2 |
T |
A |
15: 98,276,878 (GRCm39) |
M38L |
probably benign |
Het |
| Pfpl |
A |
G |
19: 12,407,570 (GRCm39) |
D607G |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,802,921 (GRCm39) |
F233L |
possibly damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,502,678 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 23,042,750 (GRCm39) |
E2058V |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,472,852 (GRCm39) |
N763K |
probably damaging |
Het |
| Rhbg |
A |
C |
3: 88,155,760 (GRCm39) |
D63E |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,106,472 (GRCm39) |
F330L |
probably benign |
Het |
| Scaf8 |
A |
T |
17: 3,209,568 (GRCm39) |
Q97L |
unknown |
Het |
| Sdr9c7 |
G |
A |
10: 127,734,751 (GRCm39) |
V80I |
probably benign |
Het |
| Slc18a1 |
A |
G |
8: 69,527,799 (GRCm39) |
V4A |
probably benign |
Het |
| Slco3a1 |
T |
A |
7: 74,204,218 (GRCm39) |
I41F |
probably benign |
Het |
| Slirp |
T |
C |
12: 87,494,370 (GRCm39) |
V45A |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,070,618 (GRCm39) |
Q922L |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,927,802 (GRCm39) |
S661P |
possibly damaging |
Het |
| Stab2 |
G |
T |
10: 86,681,916 (GRCm39) |
T2495K |
probably benign |
Het |
| Supt16 |
A |
G |
14: 52,408,332 (GRCm39) |
I871T |
probably damaging |
Het |
| Sval2 |
A |
G |
6: 41,837,298 (GRCm39) |
Q9R |
probably damaging |
Het |
| Syngap1 |
A |
T |
17: 27,160,426 (GRCm39) |
M1L |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,284,266 (GRCm39) |
M62K |
possibly damaging |
Het |
| Tm4sf1 |
A |
T |
3: 57,195,186 (GRCm39) |
Y200* |
probably null |
Het |
| Tmc1 |
A |
T |
19: 20,878,181 (GRCm39) |
W105R |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,025,987 (GRCm39) |
E827G |
probably benign |
Het |
| Tollip |
T |
C |
7: 141,446,563 (GRCm39) |
I33V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,645,803 (GRCm39) |
V1493D |
possibly damaging |
Het |
| Vmn2r6 |
G |
A |
3: 64,467,245 (GRCm39) |
R85W |
probably benign |
Het |
| Vwa5a |
C |
A |
9: 38,647,316 (GRCm39) |
S565* |
probably null |
Het |
| Xbp1 |
T |
A |
11: 5,471,910 (GRCm39) |
V12D |
probably benign |
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 |
|
|
R6005:Mroh9
|
UTSW |
1 |
162,903,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TGCTGTTACATAAAGCACTGTGG -3'
(R):5'- GGCACTTATAACTTGGCTATAGTG -3'
Sequencing Primer
(F):5'- GAGGCTTCCTAGGACTATGT -3'
(R):5'- GAAGCACTAACAAGCCAAATCTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation