Incidental Mutation 'R4969:Mroh7'
| ID |
384256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh7
|
| Ensembl Gene |
ENSMUSG00000047502 |
| Gene Name |
maestro heat-like repeat family member 7 |
| Synonyms |
Heatr8, Gm1027, LOC381538 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106538070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1202
(I1202N)
|
| 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 benign
Transcript: ENSMUST00000106770
AA Change: I1202N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: I1202N
| 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: ENSMUST00000145374
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,754,943 (GRCm39) |
I1525T |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,392 (GRCm39) |
V476A |
probably benign |
Het |
| Aipl1 |
A |
G |
11: 71,922,256 (GRCm39) |
I151T |
probably benign |
Het |
| Apc |
C |
T |
18: 34,445,971 (GRCm39) |
R938* |
probably null |
Het |
| Atp2a2 |
A |
G |
5: 122,596,554 (GRCm39) |
F855S |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,223,075 (GRCm39) |
T261A |
possibly damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,365,900 (GRCm39) |
D370G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,736,025 (GRCm39) |
I2964V |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,386,375 (GRCm39) |
V158A |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,741,806 (GRCm39) |
T2371I |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,503,929 (GRCm39) |
T79A |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,780,413 (GRCm39) |
R145G |
probably damaging |
Het |
| Disc1 |
G |
A |
8: 125,851,289 (GRCm39) |
W391* |
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,941,988 (GRCm39) |
V1745I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,886 (GRCm39) |
V1557A |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,637,145 (GRCm39) |
Y194N |
probably damaging |
Het |
| Eif4a3 |
A |
G |
11: 119,179,705 (GRCm39) |
Y361H |
probably damaging |
Het |
| Esd |
T |
A |
14: 74,982,153 (GRCm39) |
S189R |
possibly damaging |
Het |
| Fancf |
A |
T |
7: 51,511,196 (GRCm39) |
Y269* |
probably null |
Het |
| Fbln2 |
A |
T |
6: 91,248,569 (GRCm39) |
H1078L |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,010,592 (GRCm39) |
|
probably null |
Het |
| Fcgr2b |
A |
T |
1: 170,790,941 (GRCm39) |
V284D |
probably benign |
Het |
| Fuz |
G |
A |
7: 44,549,718 (GRCm39) |
G363R |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,574,234 (GRCm39) |
E403G |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,291,581 (GRCm39) |
D49G |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,214,445 (GRCm39) |
V561A |
probably benign |
Het |
| H1f7 |
A |
T |
15: 98,154,216 (GRCm39) |
V311E |
unknown |
Het |
| Hebp2 |
T |
C |
10: 18,420,122 (GRCm39) |
T104A |
probably benign |
Het |
| Ighv1-19 |
T |
A |
12: 114,672,377 (GRCm39) |
Q80L |
probably benign |
Het |
| Kctd19 |
T |
A |
8: 106,122,959 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,955,428 (GRCm39) |
L905P |
probably damaging |
Het |
| Klkb1 |
T |
C |
8: 45,735,814 (GRCm39) |
D183G |
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,588,460 (GRCm39) |
R67G |
possibly damaging |
Het |
| Krt75 |
T |
C |
15: 101,482,248 (GRCm39) |
I7V |
probably benign |
Het |
| Lpo |
A |
T |
11: 87,697,751 (GRCm39) |
N685K |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,754,572 (GRCm38) |
M1482K |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,791,810 (GRCm39) |
V1494E |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,801,913 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-3 |
A |
G |
8: 23,647,725 (GRCm39) |
Y228C |
probably damaging |
Het |
| Nprl2 |
G |
A |
9: 107,420,273 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
A |
G |
19: 8,739,669 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
| Or52u1 |
A |
T |
7: 104,237,730 (GRCm39) |
N240Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,118,847 (GRCm39) |
E662G |
possibly damaging |
Het |
| Plekhm3 |
G |
A |
1: 64,977,078 (GRCm39) |
R131C |
probably damaging |
Het |
| Plpp7 |
T |
C |
2: 31,985,950 (GRCm39) |
S43P |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,187 (GRCm39) |
L352P |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,395,902 (GRCm39) |
S27G |
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,051,542 (GRCm39) |
I227T |
probably damaging |
Het |
| Pttg1ip |
C |
T |
10: 77,419,854 (GRCm39) |
Q6* |
probably null |
Het |
| Rgl1 |
C |
T |
1: 152,424,813 (GRCm39) |
|
probably null |
Het |
| Riiad1 |
C |
A |
3: 94,380,173 (GRCm39) |
G41* |
probably null |
Het |
| Rnf214 |
C |
T |
9: 45,807,486 (GRCm39) |
R239H |
probably damaging |
Het |
| Rpap3 |
C |
T |
15: 97,584,407 (GRCm39) |
V346I |
probably benign |
Het |
| Scaf4 |
G |
A |
16: 90,048,831 (GRCm39) |
Q328* |
probably null |
Het |
| Sec23a |
A |
G |
12: 59,051,274 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
T |
A |
10: 88,740,774 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
A |
G |
2: 167,288,449 (GRCm39) |
T183A |
probably benign |
Het |
| Sod3 |
A |
T |
5: 52,525,736 (GRCm39) |
H145L |
probably damaging |
Het |
| Sp4 |
A |
G |
12: 118,263,341 (GRCm39) |
V235A |
probably damaging |
Het |
| Spp1 |
A |
C |
5: 104,588,153 (GRCm39) |
E185A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,351,679 (GRCm39) |
W461R |
probably benign |
Het |
| Svil |
A |
C |
18: 5,095,516 (GRCm39) |
K1124Q |
probably damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,186,720 (GRCm39) |
|
probably null |
Het |
| Terb1 |
A |
T |
8: 105,221,795 (GRCm39) |
N168K |
probably benign |
Het |
| Tnnt1 |
A |
G |
7: 4,510,573 (GRCm39) |
L216P |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,424,121 (GRCm39) |
K1463E |
probably damaging |
Het |
| Twf2 |
T |
G |
9: 106,089,098 (GRCm39) |
|
probably null |
Het |
| Urb1 |
C |
T |
16: 90,602,299 (GRCm39) |
R90Q |
probably damaging |
Het |
| Wdr45b |
A |
T |
11: 121,219,650 (GRCm39) |
C299* |
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,237,138 (GRCm39) |
S54G |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,888,931 (GRCm39) |
K323R |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,378,582 (GRCm39) |
I302T |
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 |
|
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 |
|
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'- CCAATGCCTGCATGATCCAG -3'
(R):5'- TGCAACCGAGACAGCTGATG -3'
Sequencing Primer
(F):5'- ATGATCCAGGAGCGCCGTTG -3'
(R):5'- CTGGGGAAATCTAGGAAGGCTTC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation