Incidental Mutation 'R8251:Mroh5'
| ID |
652113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh5
|
| Ensembl Gene |
ENSMUSG00000072487 |
| Gene Name |
maestro heat-like repeat family member 5 |
| Synonyms |
Gm628, LOC268816 |
| MMRRC Submission |
067677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
73658785-73711520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73655002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 653
(E653G)
|
| 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 benign
Transcript: ENSMUST00000151999
AA Change: E653G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000118236
Gene: ENSMUSG00000072487
AA Change: E653G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
294 |
635 |
1e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
T |
9: 103,968,906 (GRCm39) |
D463V |
possibly damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,884 (GRCm39) |
R68Q |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,291,554 (GRCm39) |
M1293K |
possibly damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,854,221 (GRCm39) |
T1724A |
probably benign |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,916 (GRCm39) |
I295T |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 136,014,461 (GRCm39) |
G623W |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,784,765 (GRCm39) |
V416A |
possibly damaging |
Het |
| Cenpe |
T |
A |
3: 134,957,445 (GRCm39) |
|
probably null |
Het |
| Cep85l |
A |
T |
10: 53,157,450 (GRCm39) |
I751N |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,514,269 (GRCm39) |
D468V |
probably damaging |
Het |
| Ctsr |
A |
G |
13: 61,310,592 (GRCm39) |
V51A |
probably damaging |
Het |
| Dnah14 |
A |
C |
1: 181,492,430 (GRCm39) |
E1630A |
probably damaging |
Het |
| Dsg4 |
C |
A |
18: 20,604,221 (GRCm39) |
A896E |
probably damaging |
Het |
| Ear2 |
T |
C |
14: 44,340,477 (GRCm39) |
L45P |
probably benign |
Het |
| Fshr |
T |
G |
17: 89,507,913 (GRCm39) |
D43A |
probably benign |
Het |
| Gata6 |
G |
A |
18: 11,054,670 (GRCm39) |
G200S |
probably benign |
Het |
| Gnaq |
T |
A |
19: 16,312,419 (GRCm39) |
M227K |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,232 (GRCm39) |
Q75R |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ints7 |
C |
T |
1: 191,353,545 (GRCm39) |
P957L |
unknown |
Het |
| Jmjd1c |
T |
C |
10: 67,075,068 (GRCm39) |
V73A |
noncoding transcript |
Het |
| Kansl1 |
A |
G |
11: 104,315,186 (GRCm39) |
I284T |
probably benign |
Het |
| Kcnj9 |
A |
G |
1: 172,154,089 (GRCm39) |
S12P |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,139,196 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
T |
6: 34,093,374 (GRCm39) |
T632S |
probably benign |
Het |
| Man2b1 |
G |
A |
8: 85,821,758 (GRCm39) |
V687M |
probably damaging |
Het |
| Nabp1 |
A |
T |
1: 51,516,737 (GRCm39) |
S44T |
probably benign |
Het |
| Nt5dc3 |
C |
A |
10: 86,656,091 (GRCm39) |
H256Q |
probably damaging |
Het |
| Or1j15 |
A |
C |
2: 36,459,467 (GRCm39) |
N286H |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,567 (GRCm39) |
I43N |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,646,353 (GRCm39) |
V720A |
probably benign |
Het |
| Pnpla6 |
T |
A |
8: 3,582,399 (GRCm39) |
N706K |
probably benign |
Het |
| Polr1b |
C |
A |
2: 128,965,086 (GRCm39) |
P724Q |
probably damaging |
Het |
| Rbpjl |
A |
G |
2: 164,255,854 (GRCm39) |
E366G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,846,947 (GRCm39) |
T244A |
possibly damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,956,729 (GRCm39) |
R681H |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,330,128 (GRCm39) |
Y185C |
probably damaging |
Het |
| Snupn |
T |
A |
9: 56,888,137 (GRCm39) |
F231L |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,266 (GRCm39) |
P458S |
probably benign |
Het |
| St3gal5 |
T |
A |
6: 72,126,144 (GRCm39) |
F330I |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,922,962 (GRCm39) |
D878G |
possibly damaging |
Het |
| Tex44 |
A |
G |
1: 86,354,936 (GRCm39) |
N282D |
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,100,094 (GRCm39) |
I150V |
probably benign |
Het |
| Trbv21 |
A |
G |
6: 41,179,540 (GRCm39) |
|
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,215,186 (GRCm39) |
L116* |
probably null |
Het |
| Vps36 |
A |
G |
8: 22,682,932 (GRCm39) |
T16A |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,110,267 (GRCm39) |
G837W |
probably damaging |
Het |
| Zfp397 |
T |
C |
18: 24,093,361 (GRCm39) |
V282A |
probably benign |
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 |
|
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 |
|
R9070:Mroh5
|
UTSW |
15 |
73,656,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAAGAATGTGTTTATCACTGCCCAC -3'
(R):5'- GCCTTGACTCCAGCCATAAC -3'
Sequencing Primer
(F):5'- ACAGATGTGGCAGTCTGCTC -3'
(R):5'- TGACTCCAGCCATAACCTTCTAC -3'
|
| Posted On |
2020-10-15 |
Incidental Mutation