Incidental Mutation 'R0019:Mroh7'
ID |
15670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh7
|
Ensembl Gene |
ENSMUSG00000047502 |
Gene Name |
maestro heat-like repeat family member 7 |
Synonyms |
Heatr8, Gm1027, LOC381538 |
MMRRC Submission |
038314-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0019 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106578623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 18
(I18M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119211
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
[ENSMUST00000145044]
[ENSMUST00000148281]
|
AlphaFold |
A2AVR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106770
AA Change: I18M
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000102382 Gene: ENSMUSG00000047502 AA Change: I18M
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
61 |
N/A |
INTRINSIC |
low complexity region
|
318 |
332 |
N/A |
INTRINSIC |
low complexity region
|
563 |
573 |
N/A |
INTRINSIC |
SCOP:d1b3ua_
|
634 |
1218 |
6e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145044
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148281
AA Change: I18M
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 83.5%
- 3x: 78.2%
- 10x: 64.4%
- 20x: 48.4%
|
Validation Efficiency |
91% (93/102) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
Arhgef12 |
A |
T |
9: 42,889,529 (GRCm39) |
W1029R |
probably damaging |
Het |
Aunip |
T |
A |
4: 134,250,823 (GRCm39) |
L256* |
probably null |
Het |
Bahcc1 |
T |
A |
11: 120,180,597 (GRCm39) |
M2607K |
probably damaging |
Het |
Bltp3b |
A |
G |
10: 89,611,831 (GRCm39) |
T5A |
probably damaging |
Het |
Cacng6 |
G |
T |
7: 3,480,384 (GRCm39) |
M152I |
possibly damaging |
Het |
Cep120 |
A |
G |
18: 53,842,119 (GRCm39) |
|
probably benign |
Het |
D130043K22Rik |
T |
A |
13: 25,064,795 (GRCm39) |
V737D |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,583,642 (GRCm39) |
S187P |
probably damaging |
Het |
Eogt |
C |
T |
6: 97,111,234 (GRCm39) |
|
probably benign |
Het |
Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
Frem2 |
C |
T |
3: 53,431,099 (GRCm39) |
V2745M |
probably damaging |
Het |
Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
Gpi1 |
A |
G |
7: 33,920,324 (GRCm39) |
Y144H |
probably damaging |
Het |
Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
Il6st |
T |
C |
13: 112,637,682 (GRCm39) |
C563R |
possibly damaging |
Het |
Irs1 |
T |
A |
1: 82,264,977 (GRCm39) |
K1080* |
probably null |
Het |
Itpr1 |
T |
C |
6: 108,331,587 (GRCm39) |
V182A |
probably damaging |
Het |
Kalrn |
C |
T |
16: 34,018,884 (GRCm39) |
|
probably benign |
Het |
Kcnj11 |
G |
A |
7: 45,748,363 (GRCm39) |
A320V |
probably benign |
Het |
Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
Lrrc43 |
T |
C |
5: 123,639,378 (GRCm39) |
L469P |
probably damaging |
Het |
Med29 |
A |
T |
7: 28,090,501 (GRCm39) |
|
probably benign |
Het |
Nalcn |
A |
C |
14: 123,744,901 (GRCm39) |
C376G |
probably benign |
Het |
Ncor2 |
C |
T |
5: 125,196,545 (GRCm39) |
|
probably null |
Het |
Nek1 |
T |
A |
8: 61,542,768 (GRCm39) |
M786K |
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,559,987 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,231,080 (GRCm39) |
I430V |
probably benign |
Het |
Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
Pdcl |
A |
T |
2: 37,241,932 (GRCm39) |
L273M |
probably damaging |
Het |
Pml |
A |
T |
9: 58,127,776 (GRCm39) |
S610R |
probably damaging |
Het |
Polk |
C |
A |
13: 96,641,124 (GRCm39) |
R144S |
probably damaging |
Het |
Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
Rubcnl |
T |
A |
14: 75,285,703 (GRCm39) |
|
probably benign |
Het |
Scn3a |
A |
T |
2: 65,292,045 (GRCm39) |
V1567E |
probably damaging |
Het |
Scyl2 |
A |
G |
10: 89,495,183 (GRCm39) |
I296T |
probably benign |
Het |
Slc15a3 |
A |
G |
19: 10,833,404 (GRCm39) |
I474V |
probably damaging |
Het |
Sstr1 |
T |
C |
12: 58,259,935 (GRCm39) |
L186S |
probably damaging |
Het |
Tmem108 |
A |
T |
9: 103,366,539 (GRCm39) |
V484D |
possibly damaging |
Het |
Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
Trim80 |
T |
G |
11: 115,338,768 (GRCm39) |
Y533D |
probably damaging |
Het |
Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
Usp40 |
T |
C |
1: 87,906,133 (GRCm39) |
T701A |
probably benign |
Het |
Xpr1 |
A |
G |
1: 155,208,145 (GRCm39) |
|
probably benign |
Het |
Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
Zfp219 |
G |
T |
14: 52,246,485 (GRCm39) |
T169K |
probably damaging |
Het |
|
Other mutations in Mroh7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01722:Mroh7
|
APN |
4 |
106,560,358 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01729:Mroh7
|
APN |
4 |
106,561,402 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01834:Mroh7
|
APN |
4 |
106,538,071 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02003:Mroh7
|
APN |
4 |
106,559,726 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02135:Mroh7
|
APN |
4 |
106,559,707 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02335:Mroh7
|
APN |
4 |
106,564,979 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02532:Mroh7
|
APN |
4 |
106,577,788 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02896:Mroh7
|
APN |
4 |
106,557,013 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03066:Mroh7
|
APN |
4 |
106,549,595 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03298:Mroh7
|
APN |
4 |
106,571,288 (GRCm39) |
nonsense |
probably null |
|
holy
|
UTSW |
4 |
106,567,152 (GRCm39) |
splice site |
probably null |
|
moley
|
UTSW |
4 |
106,551,509 (GRCm39) |
splice site |
probably null |
|
P0016:Mroh7
|
UTSW |
4 |
106,565,054 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0094:Mroh7
|
UTSW |
4 |
106,560,381 (GRCm39) |
missense |
probably damaging |
0.98 |
R0105:Mroh7
|
UTSW |
4 |
106,568,467 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0105:Mroh7
|
UTSW |
4 |
106,568,467 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0515:Mroh7
|
UTSW |
4 |
106,548,861 (GRCm39) |
missense |
probably benign |
0.01 |
R0828:Mroh7
|
UTSW |
4 |
106,557,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R0831:Mroh7
|
UTSW |
4 |
106,537,990 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1107:Mroh7
|
UTSW |
4 |
106,564,791 (GRCm39) |
splice site |
probably null |
|
R1301:Mroh7
|
UTSW |
4 |
106,577,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R1456:Mroh7
|
UTSW |
4 |
106,552,338 (GRCm39) |
splice site |
probably benign |
|
R1491:Mroh7
|
UTSW |
4 |
106,560,255 (GRCm39) |
missense |
probably benign |
0.11 |
R1540:Mroh7
|
UTSW |
4 |
106,560,273 (GRCm39) |
missense |
probably benign |
0.11 |
R1560:Mroh7
|
UTSW |
4 |
106,568,451 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1645:Mroh7
|
UTSW |
4 |
106,577,865 (GRCm39) |
missense |
probably benign |
0.19 |
R1804:Mroh7
|
UTSW |
4 |
106,551,589 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2162:Mroh7
|
UTSW |
4 |
106,557,378 (GRCm39) |
missense |
probably damaging |
0.96 |
R2265:Mroh7
|
UTSW |
4 |
106,578,124 (GRCm39) |
missense |
probably benign |
0.01 |
R2866:Mroh7
|
UTSW |
4 |
106,548,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R3716:Mroh7
|
UTSW |
4 |
106,561,407 (GRCm39) |
missense |
probably benign |
0.25 |
R3718:Mroh7
|
UTSW |
4 |
106,561,407 (GRCm39) |
missense |
probably benign |
0.25 |
R4530:Mroh7
|
UTSW |
4 |
106,577,634 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4661:Mroh7
|
UTSW |
4 |
106,548,710 (GRCm39) |
critical splice donor site |
probably null |
|
R4706:Mroh7
|
UTSW |
4 |
106,548,821 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4910:Mroh7
|
UTSW |
4 |
106,567,152 (GRCm39) |
splice site |
probably null |
|
R4965:Mroh7
|
UTSW |
4 |
106,548,184 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4969:Mroh7
|
UTSW |
4 |
106,538,070 (GRCm39) |
missense |
probably benign |
|
R4971:Mroh7
|
UTSW |
4 |
106,548,749 (GRCm39) |
missense |
probably benign |
0.04 |
R5083:Mroh7
|
UTSW |
4 |
106,547,515 (GRCm39) |
missense |
probably benign |
0.03 |
R5207:Mroh7
|
UTSW |
4 |
106,578,583 (GRCm39) |
missense |
probably damaging |
0.97 |
R5364:Mroh7
|
UTSW |
4 |
106,548,840 (GRCm39) |
missense |
probably benign |
0.10 |
R5392:Mroh7
|
UTSW |
4 |
106,568,448 (GRCm39) |
critical splice donor site |
probably null |
|
R5630:Mroh7
|
UTSW |
4 |
106,577,764 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5691:Mroh7
|
UTSW |
4 |
106,559,815 (GRCm39) |
missense |
probably damaging |
0.96 |
R5703:Mroh7
|
UTSW |
4 |
106,565,757 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5707:Mroh7
|
UTSW |
4 |
106,539,082 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5919:Mroh7
|
UTSW |
4 |
106,551,509 (GRCm39) |
splice site |
probably null |
|
R5979:Mroh7
|
UTSW |
4 |
106,578,123 (GRCm39) |
missense |
probably benign |
0.00 |
R6479:Mroh7
|
UTSW |
4 |
106,560,385 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6520:Mroh7
|
UTSW |
4 |
106,578,460 (GRCm39) |
missense |
probably benign |
0.00 |
R6657:Mroh7
|
UTSW |
4 |
106,559,697 (GRCm39) |
nonsense |
probably null |
|
R6732:Mroh7
|
UTSW |
4 |
106,537,910 (GRCm39) |
frame shift |
probably null |
|
R6817:Mroh7
|
UTSW |
4 |
106,571,312 (GRCm39) |
missense |
probably benign |
0.00 |
R6980:Mroh7
|
UTSW |
4 |
106,557,434 (GRCm39) |
missense |
probably benign |
0.05 |
R7062:Mroh7
|
UTSW |
4 |
106,541,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R7116:Mroh7
|
UTSW |
4 |
106,568,517 (GRCm39) |
missense |
probably benign |
0.07 |
R7134:Mroh7
|
UTSW |
4 |
106,577,791 (GRCm39) |
missense |
probably damaging |
0.99 |
R7169:Mroh7
|
UTSW |
4 |
106,548,836 (GRCm39) |
missense |
probably damaging |
0.99 |
R7419:Mroh7
|
UTSW |
4 |
106,541,115 (GRCm39) |
missense |
probably benign |
|
R7516:Mroh7
|
UTSW |
4 |
106,548,316 (GRCm39) |
missense |
probably benign |
0.00 |
R7525:Mroh7
|
UTSW |
4 |
106,566,899 (GRCm39) |
missense |
probably benign |
0.22 |
R7540:Mroh7
|
UTSW |
4 |
106,577,595 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7849:Mroh7
|
UTSW |
4 |
106,578,287 (GRCm39) |
missense |
probably benign |
|
R7920:Mroh7
|
UTSW |
4 |
106,564,773 (GRCm39) |
missense |
probably benign |
|
R7998:Mroh7
|
UTSW |
4 |
106,568,478 (GRCm39) |
missense |
probably benign |
0.02 |
R8026:Mroh7
|
UTSW |
4 |
106,578,634 (GRCm39) |
missense |
probably benign |
0.01 |
R8122:Mroh7
|
UTSW |
4 |
106,559,726 (GRCm39) |
missense |
probably damaging |
0.96 |
R8249:Mroh7
|
UTSW |
4 |
106,578,409 (GRCm39) |
missense |
probably benign |
0.00 |
R9188:Mroh7
|
UTSW |
4 |
106,566,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-12-21 |