Incidental Mutation 'R0828:Mroh7'
| ID |
78367 |
| 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 |
039008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106557073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 808
(S808G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106770
AA Change: S808G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: S808G
| 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 |
0.1304 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
C |
T |
11: 25,602,020 (GRCm39) |
C70Y |
unknown |
Het |
| Abi3bp |
C |
T |
16: 56,498,193 (GRCm39) |
T929I |
probably damaging |
Het |
| Adap2 |
C |
A |
11: 80,056,490 (GRCm39) |
|
probably benign |
Het |
| Adgrg5 |
A |
G |
8: 95,668,413 (GRCm39) |
|
probably null |
Het |
| Afdn |
C |
A |
17: 14,124,260 (GRCm39) |
N1803K |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,057,132 (GRCm39) |
L451P |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,510,434 (GRCm39) |
|
probably benign |
Het |
| Bcr |
A |
T |
10: 74,993,039 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,734,347 (GRCm39) |
N300D |
probably benign |
Het |
| Camsap1 |
G |
T |
2: 25,829,097 (GRCm39) |
Q876K |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,986,837 (GRCm39) |
D356G |
possibly damaging |
Het |
| Cdipt |
T |
A |
7: 126,576,092 (GRCm39) |
Y16N |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,233,411 (GRCm39) |
E772G |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,828,992 (GRCm39) |
I304T |
probably benign |
Het |
| Chpt1 |
C |
A |
10: 88,312,277 (GRCm39) |
G9V |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,739,263 (GRCm39) |
|
probably null |
Het |
| Dock7 |
G |
T |
4: 98,903,982 (GRCm39) |
P688T |
probably damaging |
Het |
| Ephb3 |
T |
A |
16: 21,037,784 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
T |
C |
1: 170,788,599 (GRCm39) |
Y336C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,639 (GRCm39) |
H889L |
unknown |
Het |
| Gucy2c |
C |
T |
6: 136,686,746 (GRCm39) |
V806M |
probably damaging |
Het |
| Hmgxb3 |
T |
A |
18: 61,304,426 (GRCm39) |
I55F |
probably damaging |
Het |
| Igsf9b |
T |
A |
9: 27,230,901 (GRCm39) |
Y301* |
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,333,691 (GRCm39) |
R196H |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,715,677 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,515,943 (GRCm39) |
V283A |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,135 (GRCm39) |
L423P |
probably damaging |
Het |
| Krt6a |
T |
C |
15: 101,602,271 (GRCm39) |
N138S |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,515,677 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,852,100 (GRCm39) |
T828A |
probably damaging |
Het |
| Marchf8 |
T |
A |
6: 116,382,639 (GRCm39) |
M434K |
probably benign |
Het |
| Mink1 |
C |
T |
11: 70,500,971 (GRCm39) |
Q743* |
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,884 (GRCm39) |
N14S |
probably benign |
Het |
| Msi1 |
T |
C |
5: 115,568,953 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
G |
19: 56,333,990 (GRCm39) |
Y874H |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,171,501 (GRCm39) |
F455L |
probably benign |
Het |
| Or2t1 |
G |
T |
14: 14,328,800 (GRCm38) |
V230L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,613,466 (GRCm39) |
V894A |
probably damaging |
Het |
| Polr1c |
A |
G |
17: 46,555,990 (GRCm39) |
S173P |
probably damaging |
Het |
| Pphln1-ps1 |
A |
G |
16: 13,495,669 (GRCm39) |
Y256C |
probably damaging |
Het |
| Prep |
C |
T |
10: 45,031,621 (GRCm39) |
A564V |
probably benign |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,922 (GRCm39) |
|
probably benign |
Het |
| Rcc1 |
G |
C |
4: 132,063,136 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,584,073 (GRCm39) |
D1514V |
probably benign |
Het |
| Setdb1 |
G |
A |
3: 95,246,171 (GRCm39) |
P584S |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,936,771 (GRCm39) |
I144V |
probably benign |
Het |
| Slc45a4 |
T |
C |
15: 73,458,665 (GRCm39) |
M295V |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,867,565 (GRCm39) |
D456V |
possibly damaging |
Het |
| Sspo |
G |
T |
6: 48,475,668 (GRCm39) |
C4928F |
probably damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,659,823 (GRCm39) |
K163N |
probably benign |
Het |
| Tcp11l1 |
A |
T |
2: 104,530,181 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,958,825 (GRCm39) |
I1715F |
probably damaging |
Het |
| Trpa1 |
C |
T |
1: 14,946,108 (GRCm39) |
V1008M |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,371,312 (GRCm39) |
E587G |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,177,864 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp8 |
G |
A |
2: 126,584,034 (GRCm39) |
|
probably benign |
Het |
| Zfc3h1 |
G |
T |
10: 115,237,612 (GRCm39) |
A464S |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,366,084 (GRCm39) |
I108V |
probably benign |
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 |
|
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 |
|
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'- ACACCATTTGAGCAGGGTGATGGG -3'
(R):5'- GTAGGAGCCATGCTTTTCTAGGCTG -3'
Sequencing Primer
(F):5'- tgggagatggagacaggag -3'
(R):5'- CTGGATTAGAGAATCAGCCTCAGTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation