Incidental Mutation 'R0831:Mroh7'
| ID |
77527 |
| 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 |
039010-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0831 (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 106537990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1229
(N1229D)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000106770
AA Change: N1229D
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: N1229D
| 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: ENSMUST00000142342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145374
|
| 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 |
|
| Meta Mutation Damage Score |
0.0837 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.0%
|
| Validation Efficiency |
95% (82/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
C |
T |
7: 12,284,523 (GRCm39) |
|
probably benign |
Het |
| 3425401B19Rik |
T |
C |
14: 32,384,228 (GRCm39) |
N579S |
probably benign |
Het |
| Adck1 |
G |
T |
12: 88,335,118 (GRCm39) |
M1I |
probably null |
Het |
| Adgra3 |
A |
T |
5: 50,128,144 (GRCm39) |
I779N |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
| Afg3l2 |
A |
C |
18: 67,554,297 (GRCm39) |
F468L |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,605,502 (GRCm39) |
I2384N |
probably benign |
Het |
| Ankrd13b |
A |
T |
11: 77,363,585 (GRCm39) |
S244R |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,378,842 (GRCm39) |
H1030Q |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,973,092 (GRCm39) |
|
probably benign |
Het |
| Atxn2l |
A |
G |
7: 126,098,332 (GRCm39) |
S187P |
probably damaging |
Het |
| B4galt4 |
G |
T |
16: 38,588,341 (GRCm39) |
E57D |
probably benign |
Het |
| Cad |
T |
C |
5: 31,224,944 (GRCm39) |
V949A |
probably damaging |
Het |
| Cadps2 |
C |
T |
6: 23,321,739 (GRCm39) |
S1051N |
possibly damaging |
Het |
| Ccdc66 |
C |
T |
14: 27,219,313 (GRCm39) |
V148I |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,400,045 (GRCm39) |
P55S |
probably damaging |
Het |
| Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
| Cep95 |
A |
G |
11: 106,705,530 (GRCm39) |
D548G |
probably benign |
Het |
| Chil3 |
A |
G |
3: 106,057,063 (GRCm39) |
Y294H |
probably benign |
Het |
| Chmp5 |
A |
G |
4: 40,949,500 (GRCm39) |
D39G |
probably damaging |
Het |
| Chrd |
T |
A |
16: 20,560,059 (GRCm39) |
F887I |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,034,520 (GRCm39) |
G580V |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,439,939 (GRCm39) |
N655K |
probably damaging |
Het |
| Ctsf |
A |
T |
19: 4,909,868 (GRCm39) |
Y416F |
possibly damaging |
Het |
| Dennd5a |
A |
C |
7: 109,533,961 (GRCm39) |
V77G |
probably damaging |
Het |
| Dna2 |
A |
T |
10: 62,795,108 (GRCm39) |
K460* |
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,951,097 (GRCm39) |
M2842K |
probably damaging |
Het |
| Dnajc13 |
C |
A |
9: 104,049,811 (GRCm39) |
G1765V |
probably damaging |
Het |
| Donson |
A |
C |
16: 91,480,651 (GRCm39) |
C243W |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,985,961 (GRCm39) |
N817I |
possibly damaging |
Het |
| Eef1d |
G |
A |
15: 75,768,655 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
T |
A |
2: 140,010,279 (GRCm39) |
D19V |
probably damaging |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Gm9867 |
C |
A |
4: 140,049,799 (GRCm39) |
A128S |
unknown |
Het |
| Igsf23 |
G |
T |
7: 19,675,662 (GRCm39) |
|
probably benign |
Het |
| Inhca |
T |
C |
9: 103,146,978 (GRCm39) |
H292R |
possibly damaging |
Het |
| Kdm7a |
C |
A |
6: 39,143,699 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,453,609 (GRCm39) |
|
probably benign |
Het |
| Mrps11 |
C |
A |
7: 78,441,611 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,707,409 (GRCm39) |
D248E |
probably damaging |
Het |
| Myrfl |
C |
A |
10: 116,619,114 (GRCm39) |
S748I |
probably benign |
Het |
| Nop14 |
T |
C |
5: 34,807,864 (GRCm39) |
E366G |
possibly damaging |
Het |
| Or13c3 |
T |
G |
4: 52,855,764 (GRCm39) |
I250L |
possibly damaging |
Het |
| Or2w25 |
C |
T |
11: 59,504,480 (GRCm39) |
T230I |
possibly damaging |
Het |
| Or52z13 |
A |
G |
7: 103,247,338 (GRCm39) |
I272V |
probably benign |
Het |
| Or7e177 |
T |
A |
9: 20,211,861 (GRCm39) |
C123S |
probably benign |
Het |
| Or8g2b |
C |
T |
9: 39,751,579 (GRCm39) |
P283L |
probably damaging |
Het |
| Phykpl |
G |
T |
11: 51,476,366 (GRCm39) |
E29* |
probably null |
Het |
| Plppr4 |
A |
G |
3: 117,125,295 (GRCm39) |
|
probably null |
Het |
| Prmt2 |
A |
C |
10: 76,043,641 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
T |
A |
7: 30,193,649 (GRCm39) |
Y114* |
probably null |
Het |
| Prr23a2 |
C |
A |
9: 98,738,917 (GRCm39) |
H92N |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rdx |
C |
A |
9: 51,977,117 (GRCm39) |
A122E |
probably damaging |
Het |
| Rspo3 |
T |
G |
10: 29,330,253 (GRCm39) |
D236A |
unknown |
Het |
| Sdk2 |
A |
T |
11: 113,723,084 (GRCm39) |
D1302E |
probably damaging |
Het |
| Sipa1 |
A |
T |
19: 5,710,382 (GRCm39) |
D209E |
probably damaging |
Het |
| Sirpa |
T |
G |
2: 129,469,856 (GRCm39) |
|
probably benign |
Het |
| Ska1 |
A |
C |
18: 74,330,570 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,668,331 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,631,172 (GRCm39) |
V602A |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,959,533 (GRCm39) |
V543A |
probably damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,682,433 (GRCm39) |
L489F |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,982,365 (GRCm39) |
|
probably benign |
Het |
| Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,352,100 (GRCm39) |
N82K |
probably benign |
Het |
| Stk17b |
C |
A |
1: 53,796,651 (GRCm39) |
C372F |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,428,052 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
C |
T |
18: 9,963,267 (GRCm39) |
T127I |
probably benign |
Het |
| Togaram2 |
G |
T |
17: 72,023,439 (GRCm39) |
R765L |
probably damaging |
Het |
| Tprg1 |
A |
G |
16: 25,136,219 (GRCm39) |
Y70C |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,215,325 (GRCm39) |
Y1050H |
probably damaging |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,586 (GRCm39) |
D172V |
probably benign |
Het |
| Vmn1r79 |
A |
T |
7: 11,910,990 (GRCm39) |
N291Y |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,833,980 (GRCm39) |
N549K |
probably damaging |
Het |
| Vrk3 |
T |
A |
7: 44,414,227 (GRCm39) |
L241Q |
probably damaging |
Het |
| Zc3h7a |
A |
G |
16: 10,969,744 (GRCm39) |
S386P |
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 |
|
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'- CACTGCTTCAGAGACATCTTCCAGG -3'
(R):5'- CACACTTTCACTTTGCAACCGAGAC -3'
Sequencing Primer
(F):5'- ATCTTCCAGGAGGCCAATGC -3'
(R):5'- cgaggtggaattttcatacagg -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation