Incidental Mutation 'R1645:Mroh7'
| ID |
173801 |
| 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 |
039681-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1645 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106537614-106588122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106577865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 271
(T271I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106770]
[ENSMUST00000145044]
[ENSMUST00000148281]
|
| AlphaFold |
A2AVR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106770
AA Change: T271I
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: T271I
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,948,926 (GRCm39) |
M1732V |
probably benign |
Het |
| Acvr1 |
A |
T |
2: 58,352,911 (GRCm39) |
C350S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,571,244 (GRCm39) |
V130D |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,500,166 (GRCm39) |
|
probably null |
Het |
| Asap1 |
A |
T |
15: 63,961,324 (GRCm39) |
V1116E |
probably damaging |
Het |
| Bcas1 |
T |
A |
2: 170,229,087 (GRCm39) |
D308V |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,400,879 (GRCm39) |
H1468Y |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 142,995,852 (GRCm39) |
C421R |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,959,571 (GRCm39) |
S363P |
probably damaging |
Het |
| Camk2b |
A |
T |
11: 5,922,719 (GRCm39) |
C484S |
probably damaging |
Het |
| Cby2 |
C |
A |
14: 75,821,089 (GRCm39) |
R212L |
probably benign |
Het |
| Ccny |
T |
C |
18: 9,345,199 (GRCm39) |
T192A |
probably damaging |
Het |
| Chl1 |
G |
T |
6: 103,660,141 (GRCm39) |
A356S |
probably benign |
Het |
| Dst |
T |
A |
1: 34,264,803 (GRCm39) |
Y4850N |
probably damaging |
Het |
| Dyrk4 |
C |
A |
6: 126,871,756 (GRCm39) |
E171* |
probably null |
Het |
| Entrep3 |
C |
A |
3: 89,094,154 (GRCm39) |
D322E |
possibly damaging |
Het |
| Ephb1 |
A |
G |
9: 101,804,758 (GRCm39) |
Y928H |
probably damaging |
Het |
| Fam114a2 |
A |
T |
11: 57,390,621 (GRCm39) |
N304K |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,848,445 (GRCm39) |
D1820V |
possibly damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,664,963 (GRCm39) |
|
probably null |
Het |
| Gm6358 |
T |
C |
16: 88,937,967 (GRCm39) |
W69R |
unknown |
Het |
| Ikbkb |
C |
A |
8: 23,181,082 (GRCm39) |
S127I |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,393,501 (GRCm39) |
M48K |
possibly damaging |
Het |
| Klra2 |
A |
T |
6: 131,220,857 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,044,677 (GRCm39) |
Y192F |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,244,981 (GRCm39) |
T267S |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,775,622 (GRCm39) |
E348G |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,824,283 (GRCm39) |
P796L |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,229 (GRCm39) |
T114S |
probably benign |
Het |
| Or51i1 |
A |
G |
7: 103,671,210 (GRCm39) |
F105S |
probably damaging |
Het |
| Or9k7 |
T |
A |
10: 130,046,081 (GRCm39) |
D306V |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,815,982 (GRCm39) |
H177L |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,423 (GRCm39) |
I461T |
probably benign |
Het |
| Pdlim3 |
A |
G |
8: 46,349,785 (GRCm39) |
I32V |
probably benign |
Het |
| Pigu |
A |
C |
2: 155,170,598 (GRCm39) |
Y143* |
probably null |
Het |
| Prkd3 |
A |
C |
17: 79,263,949 (GRCm39) |
|
probably null |
Het |
| Psrc1 |
C |
T |
3: 108,292,554 (GRCm39) |
R116W |
probably damaging |
Het |
| Rab5b |
A |
G |
10: 128,522,695 (GRCm39) |
S29P |
possibly damaging |
Het |
| Rbm26 |
A |
G |
14: 105,388,253 (GRCm39) |
V403A |
probably damaging |
Het |
| Rbm47 |
G |
T |
5: 66,184,481 (GRCm39) |
R41S |
probably benign |
Het |
| Rngtt |
A |
G |
4: 33,362,939 (GRCm39) |
I364M |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,733,368 (GRCm39) |
C2271* |
probably null |
Het |
| Shcbp1 |
T |
A |
8: 4,799,645 (GRCm39) |
Q277L |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,874,155 (GRCm39) |
T5A |
probably benign |
Het |
| Snx24 |
T |
C |
18: 53,522,634 (GRCm39) |
F163S |
probably benign |
Het |
| Srp72 |
T |
C |
5: 77,146,125 (GRCm39) |
V581A |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,300,401 (GRCm39) |
K59* |
probably null |
Het |
| Tnrc6b |
A |
G |
15: 80,767,159 (GRCm39) |
T975A |
probably damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,777 (GRCm39) |
V148I |
possibly damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,565,192 (GRCm39) |
C360S |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,420,427 (GRCm39) |
Q1709H |
probably damaging |
Het |
| Wdr11 |
A |
G |
7: 129,215,613 (GRCm39) |
T526A |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,820,335 (GRCm39) |
N973K |
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 |
|
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 |
|
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'- GAATAATCTCGATGGCTGCTCAGGG -3'
(R):5'- ATAACATCTCCAGGCAGGGCTCAC -3'
Sequencing Primer
(F):5'- CTCAGGGTCAGGGTGGAG -3'
(R):5'- GTCTGCACTCTGGGAACATC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation