Incidental Mutation 'R7116:Mroh7'
| ID |
551757 |
| 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 |
045207-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7116 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106568517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 396
(T396I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
[ENSMUST00000145044]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106770
AA Change: T396I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: T396I
| 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
AA Change: T31I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,251,751 (GRCm39) |
S109P |
probably damaging |
Het |
| Afg3l1 |
T |
G |
8: 124,216,601 (GRCm39) |
L280R |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,369,943 (GRCm39) |
S129T |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,622,869 (GRCm39) |
S328P |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,192,689 (GRCm39) |
E554D |
probably benign |
Het |
| Bcl11a |
T |
C |
11: 24,113,839 (GRCm39) |
V394A |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,889 (GRCm39) |
Y657C |
unknown |
Het |
| Ccdc88a |
C |
T |
11: 29,454,051 (GRCm39) |
A1738V |
probably benign |
Het |
| Cfap74 |
T |
C |
4: 155,539,518 (GRCm39) |
F948L |
unknown |
Het |
| Chgb |
A |
T |
2: 132,623,237 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
C |
T |
5: 113,990,267 (GRCm39) |
W138* |
probably null |
Het |
| Dgkb |
A |
G |
12: 38,031,989 (GRCm39) |
Q17R |
probably benign |
Het |
| Esco2 |
A |
G |
14: 66,064,006 (GRCm39) |
Y393H |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,422,110 (GRCm39) |
D228E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,162 (GRCm39) |
D2517G |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,319,334 (GRCm39) |
|
probably null |
Het |
| Gal3st2b |
A |
T |
1: 93,868,498 (GRCm39) |
Q243L |
possibly damaging |
Het |
| Gimap9 |
C |
T |
6: 48,654,989 (GRCm39) |
A192V |
probably benign |
Het |
| Glg1 |
T |
A |
8: 111,905,589 (GRCm39) |
Q564L |
probably benign |
Het |
| H2-Aa |
A |
T |
17: 34,502,601 (GRCm39) |
Y188* |
probably null |
Het |
| Hira |
T |
C |
16: 18,730,864 (GRCm39) |
Y188H |
probably damaging |
Het |
| Ighv8-8 |
C |
T |
12: 115,257,814 (GRCm39) |
D76N |
probably benign |
Het |
| Irf6 |
T |
C |
1: 192,849,905 (GRCm39) |
F276L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,458,229 (GRCm39) |
C2000R |
probably damaging |
Het |
| Jakmip3 |
T |
C |
7: 138,621,979 (GRCm39) |
V293A |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,707,614 (GRCm39) |
V132A |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,308,277 (GRCm39) |
T234A |
possibly damaging |
Het |
| Kpna3 |
T |
A |
14: 61,605,635 (GRCm39) |
N470I |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,364,522 (GRCm39) |
F1121L |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,911 (GRCm39) |
D232G |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,788,622 (GRCm39) |
N70K |
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,004,852 (GRCm39) |
H1657L |
probably damaging |
Het |
| Luzp2 |
C |
A |
7: 54,915,078 (GRCm39) |
F334L |
possibly damaging |
Het |
| Mgat5b |
A |
T |
11: 116,835,785 (GRCm39) |
S142C |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,417,487 (GRCm39) |
S3478P |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,349,269 (GRCm39) |
M626K |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,782,255 (GRCm39) |
D484G |
possibly damaging |
Het |
| Npc1 |
T |
C |
18: 12,344,601 (GRCm39) |
Y423C |
probably damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,388 (GRCm39) |
I180T |
probably damaging |
Het |
| Or11g25 |
A |
T |
14: 50,723,025 (GRCm39) |
I37F |
probably benign |
Het |
| Or51a8 |
T |
A |
7: 102,549,842 (GRCm39) |
N89K |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,426,225 (GRCm39) |
I935F |
probably benign |
Het |
| Otog |
T |
C |
7: 45,947,689 (GRCm39) |
F96L |
probably damaging |
Het |
| Pde1b |
T |
C |
15: 103,436,745 (GRCm39) |
L534P |
possibly damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,288,125 (GRCm39) |
E1092K |
probably damaging |
Het |
| Pfkl |
T |
C |
10: 77,837,249 (GRCm39) |
H108R |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,421,372 (GRCm39) |
V3047I |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,904,812 (GRCm39) |
C126* |
probably null |
Het |
| Pphln1 |
T |
A |
15: 93,353,406 (GRCm39) |
S229T |
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,451 (GRCm39) |
D42N |
possibly damaging |
Het |
| Psd3 |
A |
G |
8: 68,166,390 (GRCm39) |
V915A |
probably benign |
Het |
| Ptdss1 |
T |
A |
13: 67,093,391 (GRCm39) |
I77N |
probably benign |
Het |
| Rsbn1 |
T |
A |
3: 103,821,892 (GRCm39) |
C3* |
probably null |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Sv2c |
A |
T |
13: 96,113,152 (GRCm39) |
V599E |
probably damaging |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,898 (GRCm39) |
T322A |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,487 (GRCm39) |
M430K |
probably benign |
Het |
| Wipf3 |
T |
A |
6: 54,458,904 (GRCm39) |
|
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 |
|
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 |
|
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'- ATACTCCCTCTTGTCGGGTG -3'
(R):5'- AACCTAGACATGGGCCAATGC -3'
Sequencing Primer
(F):5'- ACTGAGCCTCAAATCTGAAGTG -3'
(R):5'- CCAATGCCAGGGTTGGGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation