Incidental Mutation 'R9070:Mroh5'
ID |
723540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh5
|
Ensembl Gene |
ENSMUSG00000072487 |
Gene Name |
maestro heat-like repeat family member 5 |
Synonyms |
Gm628, LOC268816 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R9070 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
73658785-73711520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73656688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 590
(F590L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118236
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071419]
[ENSMUST00000110021]
[ENSMUST00000151999]
|
AlphaFold |
A0A571BEG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071419
|
SMART Domains |
Protein: ENSMUSP00000071366 Gene: ENSMUSG00000072487
Domain | Start | End | E-Value | Type |
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110021
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151999
AA Change: F590L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118236 Gene: ENSMUSG00000072487 AA Change: F590L
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
294 |
635 |
1e-2 |
SMART |
|
Meta Mutation Damage Score |
0.1442 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
T |
C |
16: 35,100,770 (GRCm39) |
L774P |
probably damaging |
Het |
Aldh2 |
T |
C |
5: 121,707,032 (GRCm39) |
E495G |
probably damaging |
Het |
Als2cl |
T |
C |
9: 110,718,288 (GRCm39) |
V343A |
probably benign |
Het |
Antxrl |
T |
A |
14: 33,793,671 (GRCm39) |
C466* |
probably null |
Het |
Aoc1l3 |
A |
G |
6: 48,965,329 (GRCm39) |
N446D |
possibly damaging |
Het |
Arc |
A |
G |
15: 74,543,833 (GRCm39) |
L130P |
probably damaging |
Het |
Barhl1 |
C |
A |
2: 28,805,423 (GRCm39) |
R90L |
probably benign |
Het |
Baz2a |
A |
G |
10: 127,958,931 (GRCm39) |
M1149V |
probably benign |
Het |
Bsn |
G |
A |
9: 107,987,295 (GRCm39) |
S106L |
|
Het |
Calu |
A |
G |
6: 29,356,567 (GRCm39) |
E31G |
probably benign |
Het |
Cdh23 |
T |
G |
10: 60,173,539 (GRCm39) |
I1650L |
probably benign |
Het |
Ceacam9 |
T |
C |
7: 16,457,787 (GRCm39) |
V100A |
possibly damaging |
Het |
Dnaaf9 |
A |
T |
2: 130,654,793 (GRCm39) |
S159R |
possibly damaging |
Het |
Dpyd |
T |
G |
3: 118,792,892 (GRCm39) |
I533S |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,514,373 (GRCm39) |
D1016G |
possibly damaging |
Het |
Fv1 |
T |
A |
4: 147,954,414 (GRCm39) |
W327R |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,249,762 (GRCm39) |
D411G |
probably benign |
Het |
Gldc |
A |
T |
19: 30,080,404 (GRCm39) |
D885E |
probably damaging |
Het |
H4c3 |
A |
G |
13: 23,882,170 (GRCm39) |
V88A |
probably damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,389,371 (GRCm39) |
W82R |
possibly damaging |
Het |
Hif1an |
A |
G |
19: 44,551,458 (GRCm39) |
S48G |
probably benign |
Het |
Itgal |
C |
T |
7: 126,927,873 (GRCm39) |
R1023W |
probably null |
Het |
Kif13a |
C |
A |
13: 46,905,934 (GRCm39) |
A1618S |
probably benign |
Het |
Lrrc57 |
A |
G |
2: 120,436,565 (GRCm39) |
L181P |
probably damaging |
Het |
Mptx2 |
T |
A |
1: 173,102,119 (GRCm39) |
D190V |
probably benign |
Het |
Net1 |
A |
G |
13: 3,936,103 (GRCm39) |
I381T |
probably damaging |
Het |
Nipbl |
T |
A |
15: 8,368,215 (GRCm39) |
K1169I |
possibly damaging |
Het |
Nop9 |
G |
A |
14: 55,990,757 (GRCm39) |
R563H |
probably damaging |
Het |
Obscn |
A |
T |
11: 59,013,457 (GRCm39) |
L1130Q |
probably damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,268 (GRCm39) |
S291R |
probably damaging |
Het |
Or2b2b |
A |
T |
13: 21,858,985 (GRCm39) |
M43K |
probably benign |
Het |
Pcgf1 |
T |
A |
6: 83,057,076 (GRCm39) |
H202Q |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,715,601 (GRCm39) |
L1883P |
probably benign |
Het |
Pde4b |
T |
C |
4: 102,458,994 (GRCm39) |
S505P |
probably damaging |
Het |
Pitpnm2 |
C |
A |
5: 124,259,375 (GRCm39) |
R1320L |
probably damaging |
Het |
Plscr4 |
C |
A |
9: 92,372,281 (GRCm39) |
|
probably benign |
Het |
Pot1a |
C |
T |
6: 25,744,629 (GRCm39) |
R625Q |
|
Het |
Pou4f1 |
A |
G |
14: 104,704,067 (GRCm39) |
S122P |
probably damaging |
Het |
Ppl |
A |
G |
16: 4,907,208 (GRCm39) |
V1029A |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,427,707 (GRCm39) |
F982L |
probably damaging |
Het |
Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
Rbks |
A |
G |
5: 31,854,890 (GRCm39) |
V19A |
probably benign |
Het |
Rps18-ps5 |
A |
G |
13: 28,441,902 (GRCm39) |
Y95C |
probably benign |
Het |
Rps20 |
A |
T |
4: 3,835,280 (GRCm39) |
D5E |
probably benign |
Het |
Sacs |
C |
A |
14: 61,447,751 (GRCm39) |
P3266T |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,175,507 (GRCm39) |
|
probably benign |
Het |
Slc28a2b |
A |
G |
2: 122,352,154 (GRCm39) |
T331A |
probably damaging |
Het |
Tasor |
T |
C |
14: 27,194,484 (GRCm39) |
V1228A |
probably benign |
Het |
Trdv5 |
T |
C |
14: 54,386,258 (GRCm39) |
D69G |
probably damaging |
Het |
Treml4 |
G |
T |
17: 48,576,781 (GRCm39) |
G180C |
probably damaging |
Het |
|
Other mutations in Mroh5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Mroh5
|
APN |
15 |
73,664,638 (GRCm39) |
splice site |
probably benign |
|
IGL00466:Mroh5
|
APN |
15 |
73,664,638 (GRCm39) |
splice site |
probably benign |
|
IGL02937:Mroh5
|
APN |
15 |
73,661,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R0102:Mroh5
|
UTSW |
15 |
73,691,199 (GRCm39) |
missense |
probably benign |
0.07 |
R0321:Mroh5
|
UTSW |
15 |
73,661,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Mroh5
|
UTSW |
15 |
73,662,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Mroh5
|
UTSW |
15 |
73,661,877 (GRCm39) |
missense |
probably benign |
0.01 |
R0707:Mroh5
|
UTSW |
15 |
73,662,588 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1666:Mroh5
|
UTSW |
15 |
73,659,754 (GRCm39) |
missense |
probably benign |
0.43 |
R1668:Mroh5
|
UTSW |
15 |
73,659,754 (GRCm39) |
missense |
probably benign |
0.43 |
R2139:Mroh5
|
UTSW |
15 |
73,661,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R2269:Mroh5
|
UTSW |
15 |
73,664,997 (GRCm39) |
missense |
probably benign |
0.02 |
R4078:Mroh5
|
UTSW |
15 |
73,657,889 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4420:Mroh5
|
UTSW |
15 |
73,654,923 (GRCm39) |
small deletion |
probably benign |
|
R4460:Mroh5
|
UTSW |
15 |
73,663,645 (GRCm39) |
missense |
probably damaging |
0.97 |
R4585:Mroh5
|
UTSW |
15 |
73,661,120 (GRCm39) |
missense |
probably benign |
0.38 |
R5285:Mroh5
|
UTSW |
15 |
73,654,923 (GRCm39) |
small deletion |
probably benign |
|
R5287:Mroh5
|
UTSW |
15 |
73,654,923 (GRCm39) |
small deletion |
probably benign |
|
R5437:Mroh5
|
UTSW |
15 |
73,659,818 (GRCm39) |
missense |
probably benign |
0.02 |
R5760:Mroh5
|
UTSW |
15 |
73,693,356 (GRCm39) |
missense |
probably damaging |
0.98 |
R5972:Mroh5
|
UTSW |
15 |
73,662,568 (GRCm39) |
critical splice donor site |
probably null |
|
R6192:Mroh5
|
UTSW |
15 |
73,662,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Mroh5
|
UTSW |
15 |
73,662,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R6477:Mroh5
|
UTSW |
15 |
73,662,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R6776:Mroh5
|
UTSW |
15 |
73,661,817 (GRCm39) |
critical splice donor site |
probably null |
|
R6979:Mroh5
|
UTSW |
15 |
73,664,978 (GRCm39) |
missense |
probably benign |
0.16 |
R7238:Mroh5
|
UTSW |
15 |
73,663,278 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7406:Mroh5
|
UTSW |
15 |
73,659,583 (GRCm39) |
missense |
probably benign |
0.38 |
R7853:Mroh5
|
UTSW |
15 |
73,663,189 (GRCm39) |
missense |
probably benign |
0.00 |
R7973:Mroh5
|
UTSW |
15 |
73,664,614 (GRCm39) |
nonsense |
probably null |
|
R8215:Mroh5
|
UTSW |
15 |
73,691,139 (GRCm39) |
missense |
probably damaging |
0.96 |
R8251:Mroh5
|
UTSW |
15 |
73,655,002 (GRCm39) |
missense |
probably benign |
0.01 |
R8771:Mroh5
|
UTSW |
15 |
73,693,203 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9032:Mroh5
|
UTSW |
15 |
73,655,302 (GRCm39) |
missense |
probably benign |
0.00 |
R9238:Mroh5
|
UTSW |
15 |
73,663,586 (GRCm39) |
missense |
probably benign |
0.05 |
R9321:Mroh5
|
UTSW |
15 |
73,661,113 (GRCm39) |
missense |
probably benign |
0.00 |
X0024:Mroh5
|
UTSW |
15 |
73,659,570 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Mroh5
|
UTSW |
15 |
73,659,880 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAGTGAGGAGCTGGGGA -3'
(R):5'- CTGCTGCACAGGAAGAAGG -3'
Sequencing Primer
(F):5'- CTGGGGAGGTGAGAAGCTG -3'
(R):5'- CTGAACCTGCATTTGGGAAAC -3'
|
Posted On |
2022-08-18 |