Incidental Mutation 'R4661:Mroh7'
| ID |
352831 |
| 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 |
041600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4661 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 106548710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
[ENSMUST00000106770]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106770
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
| 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 null
Transcript: ENSMUST00000106770
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
| 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 |
noncoding transcript
Transcript: ENSMUST00000134160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145374
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
C |
9: 44,198,627 (GRCm39) |
N42D |
probably damaging |
Het |
| Adamdec1 |
G |
A |
14: 68,807,562 (GRCm39) |
T366I |
probably damaging |
Het |
| Adamts7 |
C |
A |
9: 90,075,383 (GRCm39) |
H1038Q |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
| Amhr2 |
A |
T |
15: 102,362,688 (GRCm39) |
D485V |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,298,663 (GRCm39) |
F134Y |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,649,534 (GRCm39) |
T508A |
probably benign |
Het |
| Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Atp9a |
A |
G |
2: 168,479,592 (GRCm39) |
F928L |
possibly damaging |
Het |
| BC034090 |
A |
T |
1: 155,108,221 (GRCm39) |
D13E |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,855,980 (GRCm39) |
E425G |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
| C1s1 |
T |
C |
6: 124,513,449 (GRCm39) |
I193V |
probably benign |
Het |
| Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
| Catsperz |
T |
G |
19: 6,902,171 (GRCm39) |
T108P |
probably benign |
Het |
| Cep57l1 |
T |
A |
10: 41,595,767 (GRCm39) |
D329V |
possibly damaging |
Het |
| Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
| Chrna2 |
G |
A |
14: 66,386,292 (GRCm39) |
G146D |
probably damaging |
Het |
| Col6a1 |
A |
C |
10: 76,550,506 (GRCm39) |
F520V |
unknown |
Het |
| Cyb5d2 |
C |
A |
11: 72,669,771 (GRCm39) |
V43L |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,775,290 (GRCm39) |
T321A |
probably benign |
Het |
| Dnajc16 |
A |
C |
4: 141,490,859 (GRCm39) |
Y764D |
probably damaging |
Het |
| Dsg1a |
G |
A |
18: 20,473,590 (GRCm39) |
V888M |
probably damaging |
Het |
| F5 |
A |
C |
1: 164,012,489 (GRCm39) |
T468P |
probably damaging |
Het |
| Faap24 |
A |
G |
7: 35,094,509 (GRCm39) |
M97T |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,849,230 (GRCm39) |
I334N |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,562,864 (GRCm39) |
P548T |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,340,731 (GRCm39) |
E94G |
probably damaging |
Het |
| Gm17606 |
A |
T |
14: 54,885,696 (GRCm39) |
|
probably benign |
Het |
| Gnb2 |
A |
T |
5: 137,528,515 (GRCm39) |
M1K |
probably null |
Het |
| Gys1 |
G |
A |
7: 45,104,258 (GRCm39) |
A544T |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,675 (GRCm39) |
Y230C |
probably damaging |
Het |
| Hunk |
A |
T |
16: 90,244,196 (GRCm39) |
|
probably null |
Het |
| Ifnl2 |
A |
G |
7: 28,209,635 (GRCm39) |
F51L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,387,892 (GRCm39) |
|
probably null |
Het |
| Kcnj1 |
A |
G |
9: 32,307,918 (GRCm39) |
Y114C |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,706,459 (GRCm39) |
S322T |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,471,730 (GRCm39) |
E786G |
probably damaging |
Het |
| Kif6 |
T |
C |
17: 50,060,909 (GRCm39) |
V414A |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,621,861 (GRCm39) |
K141R |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,490,581 (GRCm39) |
I1394V |
possibly damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,886,433 (GRCm39) |
M74L |
probably damaging |
Het |
| Lrp6 |
C |
T |
6: 134,488,230 (GRCm39) |
D289N |
probably benign |
Het |
| Muc4 |
A |
C |
16: 32,589,651 (GRCm39) |
E2885A |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 113,023,041 (GRCm39) |
|
probably benign |
Het |
| Ncln |
G |
A |
10: 81,328,902 (GRCm39) |
A172V |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,367,666 (GRCm39) |
T335M |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,042,829 (GRCm39) |
Y1398C |
probably damaging |
Het |
| Or10g6 |
A |
T |
9: 39,933,823 (GRCm39) |
I45F |
probably damaging |
Het |
| Or2d4 |
T |
A |
7: 106,544,074 (GRCm39) |
I45F |
probably damaging |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,376 (GRCm39) |
V40M |
probably damaging |
Het |
| Pde6c |
A |
G |
19: 38,157,887 (GRCm39) |
Y637C |
probably damaging |
Het |
| Plppr5 |
A |
G |
3: 117,414,618 (GRCm39) |
I80V |
probably damaging |
Het |
| Pold1 |
G |
T |
7: 44,182,233 (GRCm39) |
P1100T |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,977,387 (GRCm39) |
Y41H |
probably damaging |
Het |
| Rgl2 |
C |
T |
17: 34,152,200 (GRCm39) |
A329V |
possibly damaging |
Het |
| Rilp |
T |
A |
11: 75,402,250 (GRCm39) |
Y250N |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,652,751 (GRCm39) |
V19A |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,519 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
A |
G |
1: 74,172,266 (GRCm39) |
K246E |
probably damaging |
Het |
| Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
| Slc26a8 |
A |
T |
17: 28,857,658 (GRCm39) |
N828K |
probably benign |
Het |
| Src |
C |
T |
2: 157,311,852 (GRCm39) |
P527S |
probably damaging |
Het |
| Susd3 |
C |
T |
13: 49,384,778 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
T |
C |
17: 27,185,880 (GRCm39) |
L1270P |
probably damaging |
Het |
| Taf1c |
G |
A |
8: 120,325,589 (GRCm39) |
P758S |
probably damaging |
Het |
| Tenm2 |
A |
T |
11: 35,915,275 (GRCm39) |
N2087K |
probably damaging |
Het |
| Tfrc |
A |
T |
16: 32,448,969 (GRCm39) |
I703F |
probably damaging |
Het |
| Thap1 |
C |
G |
8: 26,650,874 (GRCm39) |
T48S |
probably benign |
Het |
| Tspear |
T |
C |
10: 77,702,163 (GRCm39) |
F199L |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,797 (GRCm39) |
H364L |
probably benign |
Het |
| Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
| Vmn1r1 |
T |
C |
1: 181,984,789 (GRCm39) |
E292G |
possibly damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,552 (GRCm39) |
V150G |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,117 (GRCm39) |
L300I |
probably damaging |
Het |
| Vmn2r106 |
A |
C |
17: 20,487,885 (GRCm39) |
I838S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,554,060 (GRCm39) |
S197C |
probably damaging |
Het |
| Zfp248 |
A |
T |
6: 118,410,268 (GRCm39) |
V47E |
possibly 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 |
|
|
R0019:Mroh7
|
UTSW |
4 |
106,578,623 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGGGAAAGCATCACCAAGG -3'
(R):5'- AGGCTAGCTCTCCTATCTGCTG -3'
Sequencing Primer
(F):5'- GGAAAGCATCACCAAGGAGCTC -3'
(R):5'- TGTCCCACAGATGGCCAAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation