Incidental Mutation 'R6732:Mroh7'
| ID |
530100 |
| 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 |
044850-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6732 (G1)
|
| Quality Score |
130.467 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GTT to GTTT
at 106537910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026480]
[ENSMUST00000106770]
[ENSMUST00000106772]
[ENSMUST00000135676]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026480
|
| SMART Domains |
Protein: ENSMUSP00000026480
Gene: ENSMUSG00000025413
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
79 |
112 |
1.26e1 |
SMART |
|
TPR
|
117 |
150 |
7.27e0 |
SMART |
|
TPR
|
151 |
184 |
3.07e1 |
SMART |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
| 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 benign
Transcript: ENSMUST00000106772
|
| SMART Domains |
Protein: ENSMUSP00000102384
Gene: ENSMUSG00000025413
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
79 |
112 |
1.26e1 |
SMART |
|
TPR
|
117 |
150 |
7.27e0 |
SMART |
|
TPR
|
151 |
184 |
3.07e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135676
|
| SMART Domains |
Protein: ENSMUSP00000116620
Gene: ENSMUSG00000025413
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
77 |
148 |
1.1e-14 |
PFAM |
|
Pfam:TPR_1
|
79 |
109 |
8.2e-5 |
PFAM |
|
Pfam:TPR_2
|
79 |
110 |
1.2e-3 |
PFAM |
|
Blast:TPR
|
173 |
203 |
1e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145374
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,117,190 (GRCm39) |
I486T |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,223,434 (GRCm39) |
N158S |
probably benign |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ap1ar |
G |
A |
3: 127,609,334 (GRCm39) |
Q96* |
probably null |
Het |
| Cd101 |
C |
T |
3: 100,915,515 (GRCm39) |
S684N |
probably benign |
Het |
| Cdh16 |
T |
G |
8: 105,345,165 (GRCm39) |
I375L |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,551,436 (GRCm39) |
V75A |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,551,374 (GRCm39) |
N110K |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,869,943 (GRCm39) |
V93A |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,652,740 (GRCm39) |
|
probably null |
Het |
| Egln3 |
C |
T |
12: 54,227,427 (GRCm39) |
A235T |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,212,124 (GRCm39) |
T2335A |
probably damaging |
Het |
| Fzd3 |
T |
C |
14: 65,473,252 (GRCm39) |
D172G |
probably benign |
Het |
| Galnt2 |
T |
A |
8: 125,067,561 (GRCm39) |
W447R |
probably damaging |
Het |
| Iqce |
A |
G |
5: 140,660,990 (GRCm39) |
L450P |
probably benign |
Het |
| Ly9 |
T |
C |
1: 171,421,653 (GRCm39) |
T533A |
possibly damaging |
Het |
| Map3k19 |
A |
C |
1: 127,751,969 (GRCm39) |
F257V |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,314 (GRCm39) |
V182E |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,197 (GRCm39) |
I176F |
probably benign |
Het |
| Pigp |
A |
C |
16: 94,166,300 (GRCm39) |
L96R |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,788,387 (GRCm39) |
D715G |
probably damaging |
Het |
| Plxnd1 |
A |
C |
6: 115,946,890 (GRCm39) |
L828R |
possibly damaging |
Het |
| Pramel15 |
C |
T |
4: 144,099,743 (GRCm39) |
V341I |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,481,386 (GRCm39) |
S814T |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,573 (GRCm39) |
S87P |
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,521,180 (GRCm39) |
D34E |
probably benign |
Het |
| Rhof |
A |
G |
5: 123,269,999 (GRCm39) |
F53L |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,123,851 (GRCm39) |
P1217T |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,235,389 (GRCm39) |
Y263H |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,576,599 (GRCm39) |
|
probably null |
Het |
| Smyd3 |
T |
G |
1: 179,223,395 (GRCm39) |
H178P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,761,842 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
C |
15: 75,541,337 (GRCm39) |
|
probably null |
Het |
| Trim17 |
A |
T |
11: 58,861,851 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,770,395 (GRCm39) |
F2599I |
possibly damaging |
Het |
| Tuba3a |
A |
T |
6: 125,258,608 (GRCm39) |
D127E |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,018,106 (GRCm39) |
T68A |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,351 (GRCm39) |
V411A |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,758 (GRCm39) |
V196E |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,227,684 (GRCm39) |
Y131C |
probably damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,752,282 (GRCm39) |
S667Y |
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 |
|
|
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 |
|
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 |
|
|
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'- ACTTGTCAGAGTGAGGGCTC -3'
(R):5'- TCTGGAGATCTTGAGACACGAC -3'
Sequencing Primer
(F):5'- AGAGTGAGGGCTCCGCAG -3'
(R):5'- CCCAGAAGCCTCCGTGTGTATC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation