Incidental Mutation 'R0441:Mroh9'
| ID |
39135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh9
|
| Ensembl Gene |
ENSMUSG00000071890 |
| Gene Name |
maestro heat-like repeat family member 9 |
| Synonyms |
4921528O07Rik, Armc11 |
| MMRRC Submission |
038642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
162851871-162913239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 162888331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 248
(V248E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096608]
|
| AlphaFold |
G5E8L9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096608
AA Change: V248E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094365
Gene: ENSMUSG00000071890
AA Change: V248E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5b_
|
231 |
716 |
2e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195132
|
| Meta Mutation Damage Score |
0.7009 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,689 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,545,345 (GRCm39) |
R5647* |
probably null |
Het |
| Agbl2 |
C |
T |
2: 90,627,827 (GRCm39) |
R211* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,011,714 (GRCm39) |
K806E |
probably benign |
Het |
| Ampd1 |
C |
G |
3: 102,995,794 (GRCm39) |
L235V |
probably benign |
Het |
| Atcay |
T |
C |
10: 81,060,294 (GRCm39) |
D14G |
possibly damaging |
Het |
| Atp8b4 |
C |
T |
2: 126,220,626 (GRCm39) |
|
probably benign |
Het |
| Bmp8b |
T |
C |
4: 123,018,308 (GRCm39) |
V393A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,322 (GRCm39) |
D1695E |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,587,705 (GRCm39) |
I210V |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,813,924 (GRCm39) |
L564P |
possibly damaging |
Het |
| Cmpk1 |
T |
C |
4: 114,822,220 (GRCm39) |
T110A |
probably benign |
Het |
| Cpsf3 |
T |
G |
12: 21,350,085 (GRCm39) |
I268S |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,414,023 (GRCm39) |
A2621V |
probably benign |
Het |
| Cyp2c40 |
T |
C |
19: 39,795,607 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 103,998,292 (GRCm39) |
Y1837F |
probably damaging |
Het |
| Degs2 |
A |
G |
12: 108,668,469 (GRCm39) |
F10S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,717,933 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
G |
C |
15: 78,557,795 (GRCm39) |
P251A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,066,486 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,574,811 (GRCm39) |
D1022G |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,856,304 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,151,675 (GRCm39) |
|
probably null |
Het |
| Gm15217 |
T |
C |
14: 46,620,676 (GRCm39) |
|
probably null |
Het |
| Gm17611 |
A |
T |
13: 50,130,435 (GRCm39) |
|
noncoding transcript |
Het |
| Gpld1 |
G |
A |
13: 25,146,303 (GRCm39) |
W182* |
probably null |
Het |
| Gsc |
T |
C |
12: 104,439,353 (GRCm39) |
I8V |
probably damaging |
Het |
| Hck |
A |
G |
2: 152,976,052 (GRCm39) |
K197R |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,720,301 (GRCm39) |
L1551P |
probably damaging |
Het |
| Lrch1 |
C |
T |
14: 75,184,985 (GRCm39) |
G39D |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,259,148 (GRCm39) |
|
probably null |
Het |
| Mrps15 |
C |
A |
4: 125,945,210 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ndufa5 |
T |
C |
6: 24,522,750 (GRCm39) |
T31A |
probably benign |
Het |
| Nfyb |
A |
G |
10: 82,586,594 (GRCm39) |
V190A |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,819,409 (GRCm39) |
I40M |
probably benign |
Het |
| Or2f2 |
T |
C |
6: 42,767,108 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,671,859 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,674 (GRCm39) |
I126K |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,955,301 (GRCm39) |
S564P |
probably damaging |
Het |
| Pak5 |
C |
T |
2: 135,958,549 (GRCm39) |
A180T |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,590,628 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,632,344 (GRCm39) |
N1431I |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,955,319 (GRCm39) |
I429L |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,368,664 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
T |
10: 80,064,859 (GRCm39) |
N30Y |
probably damaging |
Het |
| Rad54b |
A |
T |
4: 11,563,394 (GRCm39) |
T18S |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,321,590 (GRCm39) |
E2629G |
probably benign |
Het |
| Rec114 |
G |
A |
9: 58,565,053 (GRCm39) |
T201I |
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,423,917 (GRCm39) |
E522G |
probably damaging |
Het |
| Sgsm3 |
G |
A |
15: 80,893,971 (GRCm39) |
R502H |
possibly damaging |
Het |
| Sh3pxd2b |
C |
A |
11: 32,373,023 (GRCm39) |
A730D |
possibly damaging |
Het |
| Spag4 |
A |
G |
2: 155,909,899 (GRCm39) |
D187G |
probably damaging |
Het |
| Srgap2 |
G |
A |
1: 131,264,175 (GRCm39) |
T465I |
probably damaging |
Het |
| St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
| St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
| Tecpr1 |
C |
A |
5: 144,132,759 (GRCm39) |
R1159L |
probably benign |
Het |
| Tmem63b |
A |
T |
17: 45,977,241 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
T |
A |
6: 148,317,256 (GRCm39) |
D78V |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,029,722 (GRCm39) |
N68D |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,770,269 (GRCm39) |
A2641S |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,241,032 (GRCm39) |
K19E |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,564,038 (GRCm39) |
E1274V |
probably null |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,630 (GRCm39) |
I732F |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,758,778 (GRCm39) |
M792K |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,816,126 (GRCm39) |
I608T |
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 |
|
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 |
|
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'- AGGCACGTTACCCTGGTGATCTTC -3'
(R):5'- GTGCAATGTCAGGCAATAGAACCAAC -3'
Sequencing Primer
(F):5'- TTCTGGGCATGAAACTCCAAAG -3'
(R):5'- ctctctctgtctctgtccttg -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation