Incidental Mutation 'R6479:Mroh7'
| ID |
516966 |
| 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 |
044611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106560385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 640
(F640L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106770
AA Change: F640L
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: F640L
| 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 |
0.0877 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.0%
|
| Validation Efficiency |
95% (55/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
C |
8: 25,119,681 (GRCm39) |
S533A |
probably benign |
Het |
| Akap6 |
T |
G |
12: 53,187,952 (GRCm39) |
S1789A |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,236,011 (GRCm39) |
S519P |
probably damaging |
Het |
| Anapc2 |
A |
G |
2: 25,175,407 (GRCm39) |
K816E |
probably benign |
Het |
| Atp6v1a |
T |
C |
16: 43,919,121 (GRCm39) |
D488G |
probably benign |
Het |
| Banp |
A |
G |
8: 122,718,176 (GRCm39) |
|
probably null |
Het |
| Camsap1 |
A |
G |
2: 25,825,874 (GRCm39) |
C1367R |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,021,535 (GRCm39) |
H539Q |
probably damaging |
Het |
| Ccl5 |
A |
G |
11: 83,421,212 (GRCm39) |
Y26H |
probably benign |
Het |
| Cops3 |
A |
T |
11: 59,723,898 (GRCm39) |
S86R |
probably benign |
Het |
| Cts7 |
A |
G |
13: 61,503,455 (GRCm39) |
S170P |
probably benign |
Het |
| Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
| Dennd1b |
C |
T |
1: 138,969,698 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
T |
C |
12: 104,662,982 (GRCm39) |
D1533G |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,878,954 (GRCm39) |
E1531G |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,811,612 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gm10309 |
A |
T |
17: 86,812,007 (GRCm39) |
M1K |
probably null |
Het |
| Gm4884 |
A |
T |
7: 40,690,211 (GRCm39) |
N36Y |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,553,053 (GRCm39) |
R2546* |
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,315,480 (GRCm39) |
D3743G |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,354,157 (GRCm39) |
E114V |
possibly damaging |
Het |
| Irak2 |
A |
T |
6: 113,663,902 (GRCm39) |
N423Y |
probably damaging |
Het |
| Jarid2 |
G |
A |
13: 45,001,765 (GRCm39) |
G26D |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,988,974 (GRCm39) |
K785R |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,413 (GRCm39) |
I20F |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,690,373 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,317,429 (GRCm39) |
T851I |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,248,353 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
T |
C |
18: 57,379,642 (GRCm39) |
F273L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,700,700 (GRCm39) |
D73E |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,635,457 (GRCm39) |
S2448P |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,467,877 (GRCm39) |
V377A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,750,086 (GRCm39) |
V183A |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,752 (GRCm39) |
R755H |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,207 (GRCm39) |
T275A |
probably benign |
Het |
| Or52n4 |
A |
G |
7: 104,294,333 (GRCm39) |
I80T |
probably benign |
Het |
| Osgepl1 |
T |
C |
1: 53,360,702 (GRCm39) |
V381A |
probably benign |
Het |
| Pcdha1 |
C |
T |
18: 37,064,509 (GRCm39) |
T391I |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,327 (GRCm39) |
N328S |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,740,147 (GRCm39) |
E340G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,651,931 (GRCm39) |
T387A |
probably benign |
Het |
| Plxnb1 |
C |
A |
9: 108,940,733 (GRCm39) |
T1536K |
possibly damaging |
Het |
| Rbp7 |
T |
C |
4: 149,534,347 (GRCm39) |
T130A |
probably benign |
Het |
| Rhot2 |
A |
T |
17: 26,060,054 (GRCm39) |
V309E |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,557,964 (GRCm39) |
I421M |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,389,331 (GRCm39) |
L585H |
probably damaging |
Het |
| Spint4 |
C |
A |
2: 164,542,764 (GRCm39) |
A119D |
probably benign |
Het |
| Strip2 |
G |
T |
6: 29,944,496 (GRCm39) |
|
probably null |
Het |
| Stxbp4 |
T |
C |
11: 90,510,013 (GRCm39) |
Y59C |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,181,679 (GRCm39) |
Q4219* |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,406,826 (GRCm39) |
I37N |
probably damaging |
Het |
| Syne4 |
G |
T |
7: 30,016,340 (GRCm39) |
G179* |
probably null |
Het |
| Tead1 |
T |
C |
7: 112,460,672 (GRCm39) |
V192A |
probably benign |
Het |
| Trim37 |
G |
T |
11: 87,107,313 (GRCm39) |
E317* |
probably null |
Het |
| Wdfy3 |
A |
C |
5: 102,061,045 (GRCm39) |
Y1390D |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,342,931 (GRCm39) |
F779L |
possibly damaging |
Het |
| Zfp1002 |
C |
T |
2: 150,096,511 (GRCm39) |
G306D |
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 |
|
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'- CCCAGGATAAGTAGGCTTCTGG -3'
(R):5'- CATAATCTTCAGCCTCCCAGG -3'
Sequencing Primer
(F):5'- TGGTGACATCCCAGCCTCTG -3'
(R):5'- TACAGGAGCTCCTTGGTGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation