Incidental Mutation 'R9059:Mroh3'
| ID |
688853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh3
|
| Ensembl Gene |
ENSMUSG00000087230 |
| Gene Name |
maestro heat-like repeat family member 3 |
| Synonyms |
2310006M14Rik |
| MMRRC Submission |
068885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R9059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
136109390-136140566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136109533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 891
(R891S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075164]
[ENSMUST00000130864]
[ENSMUST00000168561]
[ENSMUST00000212798]
|
| AlphaFold |
A0A1D5RM54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075164
|
| SMART Domains |
Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
6 |
379 |
6.39e-159 |
SMART |
|
Blast:KISc
|
469 |
543 |
1e-14 |
BLAST |
|
low complexity region
|
578 |
628 |
N/A |
INTRINSIC |
|
coiled coil region
|
632 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
866 |
N/A |
INTRINSIC |
|
coiled coil region
|
931 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1109 |
1123 |
N/A |
INTRINSIC |
|
low complexity region
|
1239 |
1249 |
N/A |
INTRINSIC |
|
low complexity region
|
1266 |
1279 |
N/A |
INTRINSIC |
|
WD40
|
1299 |
1336 |
2.89e-5 |
SMART |
|
WD40
|
1339 |
1377 |
5.69e-4 |
SMART |
|
WD40
|
1404 |
1441 |
6.42e-1 |
SMART |
|
WD40
|
1444 |
1486 |
1.5e-3 |
SMART |
|
WD40
|
1494 |
1532 |
4.8e-2 |
SMART |
|
WD40
|
1535 |
1575 |
1.55e-5 |
SMART |
|
WD40
|
1578 |
1615 |
3.81e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130864
|
| SMART Domains |
Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
6 |
379 |
6.39e-159 |
SMART |
|
Blast:KISc
|
469 |
543 |
1e-14 |
BLAST |
|
low complexity region
|
578 |
628 |
N/A |
INTRINSIC |
|
coiled coil region
|
632 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
866 |
N/A |
INTRINSIC |
|
coiled coil region
|
931 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1109 |
1123 |
N/A |
INTRINSIC |
|
low complexity region
|
1239 |
1249 |
N/A |
INTRINSIC |
|
low complexity region
|
1266 |
1279 |
N/A |
INTRINSIC |
|
WD40
|
1299 |
1336 |
2.89e-5 |
SMART |
|
WD40
|
1339 |
1377 |
5.69e-4 |
SMART |
|
WD40
|
1404 |
1441 |
6.42e-1 |
SMART |
|
WD40
|
1444 |
1486 |
1.5e-3 |
SMART |
|
WD40
|
1494 |
1532 |
4.8e-2 |
SMART |
|
WD40
|
1535 |
1575 |
1.55e-5 |
SMART |
|
WD40
|
1578 |
1615 |
5.1e-6 |
SMART |
|
| 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 benign
Transcript: ENSMUST00000212798
AA Change: R891S
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
A |
T |
12: 24,124,732 (GRCm39) |
D48E |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,959,850 (GRCm39) |
T101A |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,634,829 (GRCm39) |
S316P |
probably benign |
Het |
| Acta2 |
G |
T |
19: 34,219,155 (GRCm39) |
A349D |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,562,692 (GRCm39) |
|
probably null |
Het |
| Ankrd55 |
A |
G |
13: 112,455,073 (GRCm39) |
D57G |
probably damaging |
Het |
| Azin2 |
A |
G |
4: 128,828,440 (GRCm39) |
Y351H |
probably benign |
Het |
| Ccdc142 |
T |
C |
6: 83,079,400 (GRCm39) |
C246R |
probably damaging |
Het |
| Col25a1 |
C |
A |
3: 130,268,499 (GRCm39) |
Q179K |
unknown |
Het |
| Ddx46 |
C |
T |
13: 55,799,921 (GRCm39) |
A277V |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,022,798 (GRCm39) |
N792I |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 118,094,578 (GRCm39) |
P830L |
probably benign |
Het |
| Dnah3 |
C |
G |
7: 119,684,368 (GRCm39) |
R252S |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,245,812 (GRCm39) |
D550G |
probably benign |
Het |
| Dph3 |
T |
C |
14: 31,807,384 (GRCm39) |
N31D |
probably benign |
Het |
| Dsg1c |
A |
T |
18: 20,408,306 (GRCm39) |
T452S |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,604,182 (GRCm39) |
M883K |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,642,689 (GRCm39) |
V1104A |
possibly damaging |
Het |
| Epn1 |
T |
G |
7: 5,098,067 (GRCm39) |
S293A |
probably benign |
Het |
| Fggy |
T |
A |
4: 95,688,841 (GRCm39) |
Y318* |
probably null |
Het |
| Hip1 |
A |
G |
5: 135,457,597 (GRCm39) |
L703P |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igf2r |
GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC |
GCAGCCCTCCATAGGCGC |
17: 12,970,180 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Larp4 |
A |
G |
15: 99,889,693 (GRCm39) |
E204G |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,645,119 (GRCm39) |
I511T |
|
Het |
| Lingo3 |
G |
T |
10: 80,670,523 (GRCm39) |
T469K |
probably benign |
Het |
| Lrrc30 |
A |
T |
17: 67,938,798 (GRCm39) |
W261R |
probably damaging |
Het |
| Man2b1 |
T |
C |
8: 85,818,155 (GRCm39) |
V442A |
probably damaging |
Het |
| Mtcl1 |
T |
A |
17: 66,650,606 (GRCm39) |
M1620L |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,668,899 (GRCm39) |
V253A |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,277 (GRCm39) |
C139S |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,722 (GRCm39) |
N140Y |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,883,254 (GRCm39) |
V294A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,877,117 (GRCm39) |
D980E |
probably damaging |
Het |
| Rdh11 |
T |
A |
12: 79,238,713 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,365,805 (GRCm39) |
L558R |
probably damaging |
Het |
| Slc22a26 |
C |
T |
19: 7,762,559 (GRCm39) |
M460I |
probably benign |
Het |
| Smc1b |
G |
A |
15: 85,004,875 (GRCm39) |
Q400* |
probably null |
Het |
| Spg11 |
T |
C |
2: 121,918,788 (GRCm39) |
E947G |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,876,805 (GRCm39) |
I840V |
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,617,277 (GRCm39) |
T68A |
possibly damaging |
Het |
| Traip |
A |
G |
9: 107,840,549 (GRCm39) |
I273V |
probably benign |
Het |
| Trim30c |
T |
G |
7: 104,031,272 (GRCm39) |
*514C |
probably null |
Het |
| U2surp |
A |
G |
9: 95,363,716 (GRCm39) |
Y615H |
probably damaging |
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 |
|
R0742:Mroh3
|
UTSW |
1 |
136,118,718 (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 |
|
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'- CTGGTGACCACGAATTGACATC -3'
(R):5'- CTCCTTTCTCCAAGCAGAGC -3'
Sequencing Primer
(F):5'- GTGACCACGAATTGACATCCATCTC -3'
(R):5'- TTTCTCCAAGCAGAGCCAGGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation