Incidental Mutation 'R8026:Mroh7'
| ID |
617693 |
| 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 |
067465-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8026 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106578634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 15
(P15S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
[ENSMUST00000145044]
[ENSMUST00000148281]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106770
AA Change: P15S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: P15S
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148281
AA Change: P15S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,611,723 (GRCm39) |
V513A |
probably damaging |
Het |
| Acsf2 |
C |
T |
11: 94,453,714 (GRCm39) |
V416M |
probably damaging |
Het |
| Adrm1 |
G |
A |
2: 179,817,002 (GRCm39) |
A225T |
unknown |
Het |
| Aldh9a1 |
T |
C |
1: 167,180,236 (GRCm39) |
|
probably null |
Het |
| Apbb2 |
T |
C |
5: 66,608,987 (GRCm39) |
D220G |
probably benign |
Het |
| Bace2 |
T |
C |
16: 97,238,052 (GRCm39) |
V501A |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,828,214 (GRCm39) |
N1170S |
probably benign |
Het |
| Casr |
A |
G |
16: 36,315,979 (GRCm39) |
V697A |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,595 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
C |
11: 12,203,459 (GRCm39) |
K1081R |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,633,099 (GRCm39) |
L116I |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,780,312 (GRCm39) |
F616S |
probably damaging |
Het |
| Dynlt1a |
C |
T |
17: 6,362,089 (GRCm39) |
G30S |
possibly damaging |
Het |
| Eif1 |
T |
C |
11: 100,211,274 (GRCm39) |
S23P |
possibly damaging |
Het |
| Eml6 |
A |
C |
11: 29,699,973 (GRCm39) |
L1721R |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,521,049 (GRCm39) |
I139T |
probably benign |
Het |
| Fstl4 |
A |
G |
11: 52,959,496 (GRCm39) |
E179G |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,680,067 (GRCm39) |
T95A |
|
Het |
| Gigyf1 |
C |
T |
5: 137,523,740 (GRCm39) |
H1001Y |
probably damaging |
Het |
| Gm21886 |
T |
A |
18: 80,132,961 (GRCm39) |
S66C |
probably damaging |
Het |
| Helz2 |
G |
A |
2: 180,881,998 (GRCm39) |
T265I |
probably benign |
Het |
| Hs6st3 |
G |
T |
14: 120,106,968 (GRCm39) |
V459F |
probably damaging |
Het |
| Ido2 |
A |
G |
8: 25,025,156 (GRCm39) |
|
probably null |
Het |
| Idua |
A |
G |
5: 108,818,115 (GRCm39) |
I96V |
probably benign |
Het |
| Iftap |
A |
T |
2: 101,400,989 (GRCm39) |
|
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,445,171 (GRCm39) |
S494P |
|
Het |
| Krt19 |
A |
G |
11: 100,032,209 (GRCm39) |
V285A |
probably damaging |
Het |
| Krt71 |
T |
G |
15: 101,646,817 (GRCm39) |
D297A |
possibly damaging |
Het |
| L3hypdh |
G |
A |
12: 72,131,723 (GRCm39) |
R70C |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,303,156 (GRCm39) |
Y324C |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,741,114 (GRCm39) |
D25G |
possibly damaging |
Het |
| Mmp17 |
G |
A |
5: 129,672,148 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,417,373 (GRCm39) |
C3440S |
probably benign |
Het |
| Naip5 |
C |
A |
13: 100,382,406 (GRCm39) |
S101I |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,113,060 (GRCm39) |
Y1066N |
|
Het |
| Nop56 |
T |
A |
2: 130,119,188 (GRCm39) |
C38S |
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,923,362 (GRCm39) |
L1297Q |
possibly damaging |
Het |
| Oasl2 |
C |
A |
5: 115,040,329 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
A |
G |
2: 89,324,132 (GRCm39) |
F175L |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,675,273 (GRCm39) |
N15D |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,530,904 (GRCm39) |
V182A |
possibly damaging |
Het |
| Or52a5 |
T |
A |
7: 103,427,547 (GRCm39) |
I2F |
probably benign |
Het |
| Or5h24 |
T |
C |
16: 58,918,731 (GRCm39) |
H208R |
unknown |
Het |
| Or8g4 |
T |
C |
9: 39,662,092 (GRCm39) |
S137P |
possibly damaging |
Het |
| Pacrg |
C |
T |
17: 10,795,496 (GRCm39) |
V155I |
probably benign |
Het |
| Patz1 |
A |
T |
11: 3,257,658 (GRCm39) |
M96L |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,075 (GRCm39) |
Y44C |
probably damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,911,675 (GRCm39) |
|
probably null |
Het |
| Raet1e |
A |
C |
10: 22,057,198 (GRCm39) |
D174A |
probably damaging |
Het |
| Rhobtb2 |
T |
G |
14: 70,034,214 (GRCm39) |
D337A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,934,594 (GRCm39) |
K1377E |
probably damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,361,567 (GRCm39) |
K260E |
probably damaging |
Het |
| Slc4a8 |
A |
T |
15: 100,685,170 (GRCm39) |
I234F |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
| Tbxas1 |
C |
T |
6: 39,004,830 (GRCm39) |
T359I |
probably benign |
Het |
| Trim9 |
T |
A |
12: 70,337,161 (GRCm39) |
S309C |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,659,483 (GRCm39) |
P12191S |
unknown |
Het |
| Unc80 |
A |
G |
1: 66,522,463 (GRCm39) |
R222G |
possibly damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,314 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,141 (GRCm39) |
N251K |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,924 (GRCm39) |
Y694N |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,205,782 (GRCm39) |
F255S |
probably benign |
Het |
| Zfp532 |
T |
G |
18: 65,758,227 (GRCm39) |
I720R |
possibly damaging |
Het |
| Zfp819 |
A |
G |
7: 43,267,319 (GRCm39) |
T601A |
probably benign |
Het |
| Zfp853 |
G |
T |
5: 143,274,280 (GRCm39) |
Q462K |
unknown |
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 |
|
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 |
|
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'- CCACAGTGTTGATCTGGGTG -3'
(R):5'- AAAGAGGCTCTCACCTATGCC -3'
Sequencing Primer
(F):5'- GTCATTAGACACTGGGCCAG -3'
(R):5'- TGCCGGGCATAGGATGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation