Incidental Mutation 'R0742:Mroh3'
| ID |
70716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh3
|
| Ensembl Gene |
ENSMUSG00000087230 |
| Gene Name |
maestro heat-like repeat family member 3 |
| Synonyms |
2310006M14Rik |
| MMRRC Submission |
038923-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R0742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
136109390-136140566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136118718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 533
(I533N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168561]
[ENSMUST00000212798]
|
| AlphaFold |
A0A1D5RM54 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168561
|
| SMART Domains |
Protein: ENSMUSP00000130772
Gene: ENSMUSG00000087230
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
126 |
669 |
2e-7 |
SMART |
|
low complexity region
|
677 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168561
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212798
AA Change: I533N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,655,311 (GRCm39) |
D415E |
probably benign |
Het |
| Aff3 |
A |
G |
1: 38,666,189 (GRCm39) |
W12R |
probably damaging |
Het |
| Aldh3b2 |
G |
A |
19: 4,031,034 (GRCm39) |
G428S |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,264,156 (GRCm39) |
L736P |
probably damaging |
Het |
| Baz2a |
G |
T |
10: 127,949,535 (GRCm39) |
E374* |
probably null |
Het |
| Casd1 |
T |
C |
6: 4,635,888 (GRCm39) |
|
probably null |
Het |
| Cct2 |
A |
T |
10: 116,891,151 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,605 (GRCm39) |
|
probably null |
Het |
| Copg2 |
T |
C |
6: 30,840,548 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
C |
T |
9: 109,384,624 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lyz1 |
A |
T |
10: 117,125,022 (GRCm39) |
|
probably null |
Het |
| Otogl |
A |
G |
10: 107,702,601 (GRCm39) |
V684A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,457,129 (GRCm39) |
D1302G |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,056,983 (GRCm39) |
I4183N |
probably damaging |
Het |
| Rpe |
C |
T |
1: 66,754,300 (GRCm39) |
T124I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,185,875 (GRCm39) |
I514T |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,327 (GRCm39) |
L912Q |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,881,359 (GRCm39) |
D264G |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,532,725 (GRCm39) |
I995K |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,769,011 (GRCm39) |
I48T |
possibly damaging |
Het |
| Steap3 |
C |
T |
1: 120,169,313 (GRCm39) |
R328H |
possibly damaging |
Het |
| Thoc2l |
G |
A |
5: 104,670,020 (GRCm39) |
S1514N |
probably benign |
Het |
| Tmprss13 |
T |
C |
9: 45,243,765 (GRCm39) |
F167S |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,260,739 (GRCm39) |
C1408Y |
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,483,411 (GRCm39) |
M99T |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,052 (GRCm39) |
N886S |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,281 (GRCm39) |
T644S |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,507 (GRCm39) |
S2306G |
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,244,682 (GRCm39) |
V1020A |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,075,886 (GRCm39) |
N870K |
probably benign |
Het |
|
| Other mutations in Mroh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0087:Mroh3
|
UTSW |
1 |
136,118,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0507:Mroh3
|
UTSW |
1 |
136,118,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Mroh3
|
UTSW |
1 |
136,118,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1729:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1730:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1739:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1762:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1783:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1784:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1785:Mroh3
|
UTSW |
1 |
136,119,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1862:Mroh3
|
UTSW |
1 |
136,113,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1883:Mroh3
|
UTSW |
1 |
136,134,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2166:Mroh3
|
UTSW |
1 |
136,113,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2566:Mroh3
|
UTSW |
1 |
136,125,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Mroh3
|
UTSW |
1 |
136,113,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3788:Mroh3
|
UTSW |
1 |
136,113,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Mroh3
|
UTSW |
1 |
136,118,713 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4747:Mroh3
|
UTSW |
1 |
136,113,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4855:Mroh3
|
UTSW |
1 |
136,128,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5171:Mroh3
|
UTSW |
1 |
136,119,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5296:Mroh3
|
UTSW |
1 |
136,124,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5869:Mroh3
|
UTSW |
1 |
136,113,861 (GRCm39) |
missense |
probably benign |
|
|
R6347:Mroh3
|
UTSW |
1 |
136,128,675 (GRCm39) |
splice site |
probably null |
|
|
R6531:Mroh3
|
UTSW |
1 |
136,112,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6675:Mroh3
|
UTSW |
1 |
136,118,550 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7015:Mroh3
|
UTSW |
1 |
136,111,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Mroh3
|
UTSW |
1 |
136,118,736 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7657:Mroh3
|
UTSW |
1 |
136,109,532 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9007:Mroh3
|
UTSW |
1 |
136,128,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9059:Mroh3
|
UTSW |
1 |
136,109,533 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9219:Mroh3
|
UTSW |
1 |
136,119,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9612:Mroh3
|
UTSW |
1 |
136,118,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9698:Mroh3
|
UTSW |
1 |
136,114,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Mroh3
|
UTSW |
1 |
136,119,874 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCAGCAGTTCTTGATGACC -3'
(R):5'- AGAGACCCTCATAACCCTTGTCCG -3'
Sequencing Primer
(F):5'- CAGTTCTTGATGACCAGAGATCTGAG -3'
(R):5'- CCTTGTCCGATTCAACTGTGAAATG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation