Incidental Mutation 'R7516:Mroh7'
| ID |
582444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh7
|
| Ensembl Gene |
ENSMUSG00000047502 |
| Gene Name |
maestro heat-like repeat family member 7 |
| Synonyms |
Heatr8, LOC381538, Gm1027 |
| MMRRC Submission |
045589-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106680417-106730925 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106691119 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1054
(M1054K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106770
AA Change: M1054K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: M1054K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
A |
14: 68,630,676 (GRCm38) |
I407F |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,425,921 (GRCm38) |
Y437C |
probably damaging |
Het |
| Alkbh5 |
T |
C |
11: 60,539,153 (GRCm38) |
V244A |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,409,331 (GRCm38) |
F1390L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,630,940 (GRCm38) |
D136G |
possibly damaging |
Het |
| Atp8a2 |
A |
T |
14: 59,857,067 (GRCm38) |
Y841N |
probably damaging |
Het |
| Cald1 |
A |
T |
6: 34,709,557 (GRCm38) |
|
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,638,840 (GRCm38) |
I400T |
possibly damaging |
Het |
| Cdh18 |
T |
A |
15: 23,259,598 (GRCm38) |
|
probably null |
Het |
| Ces2h |
T |
A |
8: 105,016,826 (GRCm38) |
L204Q |
probably damaging |
Het |
| Chrna3 |
G |
A |
9: 55,015,369 (GRCm38) |
A385V |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,966,248 (GRCm38) |
L311Q |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,583,385 (GRCm38) |
V1149A |
probably benign |
Het |
| Clip3 |
T |
A |
7: 30,298,843 (GRCm38) |
V238D |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,612,910 (GRCm38) |
|
probably null |
Het |
| Coro2a |
A |
G |
4: 46,562,992 (GRCm38) |
V54A |
probably benign |
Het |
| Crem |
T |
C |
18: 3,299,141 (GRCm38) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 149,068,380 (GRCm38) |
I192V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,170,479 (GRCm38) |
N1209S |
probably benign |
Het |
| Ero1a |
T |
A |
14: 45,288,023 (GRCm38) |
M385L |
probably benign |
Het |
| Fam13a |
A |
T |
6: 58,955,263 (GRCm38) |
V375D |
probably damaging |
Het |
| Fgfbp3 |
T |
A |
19: 36,918,924 (GRCm38) |
Y98F |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 80,612,083 (GRCm38) |
V335A |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 35,796,279 (GRCm38) |
D951E |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,308,200 (GRCm38) |
D145G |
probably benign |
Het |
| H60c |
G |
T |
10: 3,259,746 (GRCm38) |
C180* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,622,967 (GRCm38) |
T4054A |
probably benign |
Het |
| Hrg |
A |
G |
16: 22,961,298 (GRCm38) |
Y442C |
unknown |
Het |
| Hspg2 |
C |
T |
4: 137,542,620 (GRCm38) |
R2327C |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,651,147 (GRCm38) |
A382S |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 119,070,698 (GRCm38) |
V960A |
probably damaging |
Het |
| Lztr1 |
C |
T |
16: 17,509,661 (GRCm38) |
A76V |
possibly damaging |
Het |
| Me3 |
G |
T |
7: 89,847,975 (GRCm38) |
E395* |
probably null |
Het |
| Morc2b |
G |
A |
17: 33,137,461 (GRCm38) |
H446Y |
probably benign |
Het |
| Ms4a6b |
T |
C |
19: 11,529,543 (GRCm38) |
V232A |
probably benign |
Het |
| Nmt2 |
C |
A |
2: 3,312,730 (GRCm38) |
D224E |
probably damaging |
Het |
| Nox4 |
C |
A |
7: 87,321,697 (GRCm38) |
R261S |
probably benign |
Het |
| Obscn |
T |
A |
11: 59,124,590 (GRCm38) |
K1019* |
probably null |
Het |
| Or4a15 |
T |
A |
2: 89,363,375 (GRCm38) |
N18I |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,478,937 (GRCm38) |
V51D |
probably benign |
Het |
| Or5p67 |
G |
A |
7: 108,323,016 (GRCm38) |
S220F |
probably damaging |
Het |
| Or8k24 |
C |
T |
2: 86,385,984 (GRCm38) |
V145I |
probably benign |
Het |
| Pcdha11 |
A |
T |
18: 37,011,618 (GRCm38) |
N254I |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,542,456 (GRCm38) |
I54N |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 109,635,229 (GRCm38) |
W978R |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,237,768 (GRCm38) |
T593A |
probably benign |
Het |
| Podn |
G |
A |
4: 108,022,124 (GRCm38) |
R266W |
probably damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,885,538 (GRCm38) |
D335G |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,506,863 (GRCm38) |
D3G |
unknown |
Het |
| Rapgefl1 |
T |
G |
11: 98,846,134 (GRCm38) |
V320G |
probably benign |
Het |
| Rel |
A |
G |
11: 23,742,785 (GRCm38) |
I416T |
probably benign |
Het |
| Sema5b |
A |
G |
16: 35,651,170 (GRCm38) |
N378D |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,145,646 (GRCm38) |
L739M |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,625,971 (GRCm38) |
D191V |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,063,762 (GRCm38) |
Y581H |
probably damaging |
Het |
| Smcr8 |
G |
T |
11: 60,779,988 (GRCm38) |
C654F |
probably benign |
Het |
| Spta1 |
A |
C |
1: 174,197,783 (GRCm38) |
Q738P |
probably damaging |
Het |
| Sptlc3 |
C |
A |
2: 139,589,518 (GRCm38) |
A320D |
probably benign |
Het |
| Thnsl2 |
T |
A |
6: 71,132,006 (GRCm38) |
K274* |
probably null |
Het |
| Tmed2 |
T |
A |
5: 124,546,992 (GRCm38) |
I68K |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 122,943,323 (GRCm38) |
A326V |
possibly damaging |
Het |
| Tnks2 |
T |
A |
19: 36,871,664 (GRCm38) |
S179T |
possibly damaging |
Het |
| Trim34b |
G |
T |
7: 104,329,711 (GRCm38) |
C55F |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 45,305,020 (GRCm38) |
E1129V |
probably damaging |
Het |
| Tvp23b |
T |
C |
11: 62,892,041 (GRCm38) |
S188P |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,934,119 (GRCm38) |
T557A |
probably damaging |
Het |
| Vmn2r66 |
C |
T |
7: 85,011,968 (GRCm38) |
C18Y |
possibly damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,418,983 (GRCm38) |
T611S |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,955,007 (GRCm38) |
S2969P |
possibly damaging |
Het |
| Wdr74 |
T |
A |
19: 8,736,190 (GRCm38) |
C62* |
probably null |
Het |
| Wfikkn1 |
A |
T |
17: 25,878,046 (GRCm38) |
C435S |
probably damaging |
Het |
| Zbtb45 |
A |
T |
7: 13,006,342 (GRCm38) |
F449I |
probably damaging |
Het |
|
| Other mutations in Mroh7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01722:Mroh7
|
APN |
4 |
106,703,161 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01729:Mroh7
|
APN |
4 |
106,704,205 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01834:Mroh7
|
APN |
4 |
106,680,874 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02003:Mroh7
|
APN |
4 |
106,702,529 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02135:Mroh7
|
APN |
4 |
106,702,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02335:Mroh7
|
APN |
4 |
106,707,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02532:Mroh7
|
APN |
4 |
106,720,591 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02896:Mroh7
|
APN |
4 |
106,699,816 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03066:Mroh7
|
APN |
4 |
106,692,398 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL03298:Mroh7
|
APN |
4 |
106,714,091 (GRCm38) |
nonsense |
probably null |
|
|
holy
|
UTSW |
4 |
106,709,955 (GRCm38) |
splice site |
probably null |
|
|
moley
|
UTSW |
4 |
106,694,312 (GRCm38) |
splice site |
probably null |
|
|
P0016:Mroh7
|
UTSW |
4 |
106,707,857 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0019:Mroh7
|
UTSW |
4 |
106,721,426 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0094:Mroh7
|
UTSW |
4 |
106,703,184 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0105:Mroh7
|
UTSW |
4 |
106,711,270 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0105:Mroh7
|
UTSW |
4 |
106,711,270 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0515:Mroh7
|
UTSW |
4 |
106,691,664 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0828:Mroh7
|
UTSW |
4 |
106,699,876 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0831:Mroh7
|
UTSW |
4 |
106,680,793 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1107:Mroh7
|
UTSW |
4 |
106,707,594 (GRCm38) |
splice site |
probably null |
|
|
R1301:Mroh7
|
UTSW |
4 |
106,720,495 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1456:Mroh7
|
UTSW |
4 |
106,695,141 (GRCm38) |
splice site |
probably benign |
|
|
R1491:Mroh7
|
UTSW |
4 |
106,703,058 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1540:Mroh7
|
UTSW |
4 |
106,703,076 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1560:Mroh7
|
UTSW |
4 |
106,711,254 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1645:Mroh7
|
UTSW |
4 |
106,720,668 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1804:Mroh7
|
UTSW |
4 |
106,694,392 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R2162:Mroh7
|
UTSW |
4 |
106,700,181 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2265:Mroh7
|
UTSW |
4 |
106,720,927 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2866:Mroh7
|
UTSW |
4 |
106,691,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3716:Mroh7
|
UTSW |
4 |
106,704,210 (GRCm38) |
missense |
probably benign |
0.25 |
|
R3718:Mroh7
|
UTSW |
4 |
106,704,210 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4530:Mroh7
|
UTSW |
4 |
106,720,437 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4661:Mroh7
|
UTSW |
4 |
106,691,513 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4706:Mroh7
|
UTSW |
4 |
106,691,624 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4910:Mroh7
|
UTSW |
4 |
106,709,955 (GRCm38) |
splice site |
probably null |
|
|
R4965:Mroh7
|
UTSW |
4 |
106,690,987 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4969:Mroh7
|
UTSW |
4 |
106,680,873 (GRCm38) |
missense |
probably benign |
|
|
R4971:Mroh7
|
UTSW |
4 |
106,691,552 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5083:Mroh7
|
UTSW |
4 |
106,690,318 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5207:Mroh7
|
UTSW |
4 |
106,721,386 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5364:Mroh7
|
UTSW |
4 |
106,691,643 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5392:Mroh7
|
UTSW |
4 |
106,711,251 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5630:Mroh7
|
UTSW |
4 |
106,720,567 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5691:Mroh7
|
UTSW |
4 |
106,702,618 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5703:Mroh7
|
UTSW |
4 |
106,708,560 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5707:Mroh7
|
UTSW |
4 |
106,681,885 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5919:Mroh7
|
UTSW |
4 |
106,694,312 (GRCm38) |
splice site |
probably null |
|
|
R5979:Mroh7
|
UTSW |
4 |
106,720,926 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6479:Mroh7
|
UTSW |
4 |
106,703,188 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6520:Mroh7
|
UTSW |
4 |
106,721,263 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6657:Mroh7
|
UTSW |
4 |
106,702,500 (GRCm38) |
nonsense |
probably null |
|
|
R6732:Mroh7
|
UTSW |
4 |
106,680,713 (GRCm38) |
frame shift |
probably null |
|
|
R6817:Mroh7
|
UTSW |
4 |
106,714,115 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6980:Mroh7
|
UTSW |
4 |
106,700,237 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7062:Mroh7
|
UTSW |
4 |
106,683,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7116:Mroh7
|
UTSW |
4 |
106,711,320 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7134:Mroh7
|
UTSW |
4 |
106,720,594 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7169:Mroh7
|
UTSW |
4 |
106,691,639 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7419:Mroh7
|
UTSW |
4 |
106,683,918 (GRCm38) |
missense |
probably benign |
|
|
R7525:Mroh7
|
UTSW |
4 |
106,709,702 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7540:Mroh7
|
UTSW |
4 |
106,720,398 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7849:Mroh7
|
UTSW |
4 |
106,721,090 (GRCm38) |
missense |
probably benign |
|
|
R7920:Mroh7
|
UTSW |
4 |
106,707,576 (GRCm38) |
missense |
probably benign |
|
|
R7998:Mroh7
|
UTSW |
4 |
106,711,281 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8026:Mroh7
|
UTSW |
4 |
106,721,437 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8122:Mroh7
|
UTSW |
4 |
106,702,529 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8249:Mroh7
|
UTSW |
4 |
106,721,212 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9188:Mroh7
|
UTSW |
4 |
106,709,592 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATAAAGGAGGTGCCCTTCAG -3'
(R):5'- CACTGGGTAGCCTAATGGTG -3'
Sequencing Primer
(F):5'- TTCAGGGCCTGACAGCAG -3'
(R):5'- GTGAGCACCTAACTTAGACTCAGTG -3'
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| Posted On |
2019-10-17 |
Incidental Mutation