Incidental Mutation 'R5691:Mroh7'
| ID |
443675 |
| 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 |
043324-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106559815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 704
(G704V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106770
AA Change: G704V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: G704V
| 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
|
| Meta Mutation Damage Score |
0.1527 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410022M11Rik |
A |
G |
14: 57,049,830 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,890,970 (GRCm39) |
M509K |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,170,653 (GRCm39) |
Y34C |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,904 (GRCm39) |
T182I |
probably benign |
Het |
| Cdc123 |
T |
A |
2: 5,827,986 (GRCm39) |
N87I |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,186,616 (GRCm39) |
E2431G |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,708,154 (GRCm39) |
T521A |
probably damaging |
Het |
| Defb46 |
T |
A |
8: 19,292,149 (GRCm39) |
I55K |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,546,390 (GRCm39) |
T353A |
probably benign |
Het |
| Eqtn |
C |
A |
4: 94,811,965 (GRCm39) |
|
probably null |
Het |
| Ermn |
A |
T |
2: 57,937,776 (GRCm39) |
M279K |
probably damaging |
Het |
| Fan1 |
C |
A |
7: 64,004,118 (GRCm39) |
|
probably null |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,486,878 (GRCm39) |
D3291G |
possibly damaging |
Het |
| Hid1 |
A |
G |
11: 115,239,645 (GRCm39) |
W762R |
probably damaging |
Het |
| Idi2l |
A |
T |
13: 8,992,693 (GRCm39) |
Y91* |
probably null |
Het |
| Ifi207 |
A |
G |
1: 173,559,992 (GRCm39) |
I160T |
unknown |
Het |
| Inpp4b |
T |
A |
8: 82,617,323 (GRCm39) |
|
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Jph1 |
T |
G |
1: 17,074,587 (GRCm39) |
Q477P |
probably benign |
Het |
| Kdm4c |
A |
T |
4: 74,252,965 (GRCm39) |
I511L |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,332,897 (GRCm39) |
D1540G |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,769,648 (GRCm39) |
I168F |
probably damaging |
Het |
| Mgat4e |
A |
T |
1: 134,468,729 (GRCm39) |
|
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,366,316 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
A |
T |
1: 13,250,774 (GRCm39) |
C303S |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
| Nrcam |
T |
C |
12: 44,611,039 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nubpl |
G |
A |
12: 52,152,059 (GRCm39) |
|
probably benign |
Het |
| Oasl2 |
C |
A |
5: 115,037,828 (GRCm39) |
T75K |
possibly damaging |
Het |
| Or8h9 |
A |
T |
2: 86,789,616 (GRCm39) |
F62Y |
probably damaging |
Het |
| P3h3 |
C |
T |
6: 124,832,116 (GRCm39) |
G257R |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,683,909 (GRCm39) |
V139A |
probably benign |
Het |
| Pgam5 |
G |
A |
5: 110,414,959 (GRCm39) |
P85S |
probably damaging |
Het |
| Phpt1 |
T |
C |
2: 25,463,707 (GRCm39) |
Y96C |
probably damaging |
Het |
| Plekhm2 |
A |
C |
4: 141,355,600 (GRCm39) |
S867A |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,538,579 (GRCm39) |
W131R |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,087,759 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,563,254 (GRCm39) |
Y108N |
probably damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,466 (GRCm39) |
T334I |
possibly damaging |
Het |
| Rps3a2 |
G |
T |
14: 88,360,483 (GRCm39) |
|
noncoding transcript |
Het |
| Selenot |
C |
T |
3: 58,493,447 (GRCm39) |
A108V |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,126,544 (GRCm39) |
M98K |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,904,035 (GRCm39) |
H34R |
possibly damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,940,581 (GRCm39) |
Y93* |
probably null |
Het |
| Sp3 |
A |
G |
2: 72,801,803 (GRCm39) |
L70S |
probably damaging |
Het |
| Syne2 |
TCCAGGTAGGGCACACC |
TCC |
12: 76,074,630 (GRCm39) |
|
probably null |
Het |
| Tcl1b4 |
C |
A |
12: 105,168,806 (GRCm39) |
D23E |
possibly damaging |
Het |
| Tespa1 |
T |
A |
10: 130,190,638 (GRCm39) |
|
probably null |
Het |
| Tmc7 |
T |
C |
7: 118,141,116 (GRCm39) |
I672V |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,690,700 (GRCm39) |
Q14L |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,507,299 (GRCm39) |
V671A |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,354,952 (GRCm39) |
S1273F |
probably damaging |
Het |
| Zfp90 |
C |
A |
8: 107,151,710 (GRCm39) |
Y474* |
probably null |
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 |
|
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 |
|
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'- GGCTGTCATAAGTACTACAGACTG -3'
(R):5'- ACTTCCCTCCAGCATTGAGC -3'
Sequencing Primer
(F):5'- TAGGAAGAGTGTCAACCCTTTG -3'
(R):5'- GCATTGAGCCTCCTCTCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation