Incidental Mutation 'R0399:Mroh1'
ID |
38080 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
038604-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R0399 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76336299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1530
(A1530V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023217]
[ENSMUST00000096385]
[ENSMUST00000159218]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023217
|
SMART Domains |
Protein: ENSMUSP00000023217 Gene: ENSMUSG00000022557
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
48 |
N/A |
INTRINSIC |
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
BOP1NT
|
130 |
388 |
1.38e-177 |
SMART |
WD40
|
388 |
427 |
1.16e-9 |
SMART |
WD40
|
430 |
469 |
6.16e0 |
SMART |
WD40
|
508 |
551 |
7.1e1 |
SMART |
WD40
|
554 |
592 |
4.46e-1 |
SMART |
WD40
|
595 |
634 |
2.76e-2 |
SMART |
WD40
|
638 |
677 |
4.14e-6 |
SMART |
WD40
|
689 |
732 |
3.14e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096385
AA Change: A1530V
PolyPhen 2
Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: A1530V
Domain | Start | End | E-Value | Type |
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
low complexity region
|
799 |
810 |
N/A |
INTRINSIC |
low complexity region
|
935 |
946 |
N/A |
INTRINSIC |
low complexity region
|
1191 |
1202 |
N/A |
INTRINSIC |
low complexity region
|
1355 |
1367 |
N/A |
INTRINSIC |
low complexity region
|
1488 |
1502 |
N/A |
INTRINSIC |
Pfam:HEAT
|
1610 |
1640 |
2.2e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159218
AA Change: A1521V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558 AA Change: A1521V
Domain | Start | End | E-Value | Type |
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
low complexity region
|
790 |
801 |
N/A |
INTRINSIC |
low complexity region
|
926 |
937 |
N/A |
INTRINSIC |
low complexity region
|
1182 |
1193 |
N/A |
INTRINSIC |
low complexity region
|
1346 |
1358 |
N/A |
INTRINSIC |
low complexity region
|
1479 |
1493 |
N/A |
INTRINSIC |
Pfam:HEAT
|
1601 |
1631 |
1.3e-5 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160525
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160806
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229897
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229132
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
99% (71/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030452D12Rik |
T |
C |
8: 107,231,174 (GRCm39) |
M120T |
unknown |
Het |
Actr1a |
A |
T |
19: 46,373,450 (GRCm39) |
|
probably null |
Het |
Anapc5 |
A |
T |
5: 122,929,816 (GRCm39) |
V555D |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,108,008 (GRCm39) |
|
probably null |
Het |
Arhgap30 |
A |
G |
1: 171,232,384 (GRCm39) |
E343G |
probably damaging |
Het |
Asap2 |
C |
T |
12: 21,267,998 (GRCm39) |
T291I |
possibly damaging |
Het |
Atp5f1a |
T |
A |
18: 77,869,536 (GRCm39) |
Y439* |
probably null |
Het |
Auts2 |
A |
T |
5: 131,469,362 (GRCm39) |
S428T |
probably benign |
Het |
B3gnt7 |
T |
A |
1: 86,233,433 (GRCm39) |
C109* |
probably null |
Het |
C4b |
C |
A |
17: 34,947,843 (GRCm39) |
Q1657H |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,544,225 (GRCm39) |
L268* |
probably null |
Het |
Cep290 |
G |
A |
10: 100,390,262 (GRCm39) |
|
probably benign |
Het |
Cep68 |
T |
G |
11: 20,180,571 (GRCm39) |
I687L |
probably benign |
Het |
Chd6 |
T |
A |
2: 160,894,608 (GRCm39) |
D84V |
probably damaging |
Het |
Clpx |
A |
G |
9: 65,230,051 (GRCm39) |
T514A |
probably benign |
Het |
Cox18 |
A |
T |
5: 90,362,887 (GRCm39) |
C324S |
probably benign |
Het |
Cryzl2 |
T |
C |
1: 157,289,586 (GRCm39) |
Y75H |
probably damaging |
Het |
Cxcr6 |
C |
T |
9: 123,640,016 (GRCm39) |
A339V |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,765,171 (GRCm39) |
L1721P |
probably benign |
Het |
Dstyk |
T |
C |
1: 132,380,818 (GRCm39) |
|
probably benign |
Het |
Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
Ehf |
A |
G |
2: 103,097,215 (GRCm39) |
Y246H |
probably damaging |
Het |
Epas1 |
T |
C |
17: 87,112,621 (GRCm39) |
V73A |
probably benign |
Het |
Filip1 |
A |
G |
9: 79,725,592 (GRCm39) |
I1009T |
possibly damaging |
Het |
Glis3 |
A |
T |
19: 28,276,168 (GRCm39) |
|
probably benign |
Het |
Gm17333 |
A |
T |
16: 77,649,678 (GRCm39) |
|
noncoding transcript |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Gpr155 |
A |
T |
2: 73,200,346 (GRCm39) |
I387N |
possibly damaging |
Het |
Gria1 |
A |
G |
11: 57,076,853 (GRCm39) |
D83G |
probably damaging |
Het |
Grid2 |
A |
G |
6: 64,643,036 (GRCm39) |
I933V |
probably benign |
Het |
Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
Hook2 |
A |
G |
8: 85,720,196 (GRCm39) |
|
probably benign |
Het |
Ift140 |
T |
A |
17: 25,269,314 (GRCm39) |
S656R |
possibly damaging |
Het |
Il11ra1 |
A |
T |
4: 41,766,185 (GRCm39) |
T241S |
probably benign |
Het |
Kank1 |
A |
G |
19: 25,388,606 (GRCm39) |
I760V |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,314,958 (GRCm39) |
E360G |
possibly damaging |
Het |
Klf9 |
A |
T |
19: 23,119,446 (GRCm39) |
S110C |
probably damaging |
Het |
Klhl31 |
A |
G |
9: 77,557,935 (GRCm39) |
N217S |
probably benign |
Het |
Lct |
T |
C |
1: 128,228,262 (GRCm39) |
Y1077C |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,517,529 (GRCm39) |
|
probably benign |
Het |
Lrrn1 |
T |
A |
6: 107,546,081 (GRCm39) |
H626Q |
probably benign |
Het |
Mmp28 |
A |
T |
11: 83,342,558 (GRCm39) |
L40Q |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,209,075 (GRCm39) |
|
probably benign |
Het |
Naa25 |
A |
T |
5: 121,573,553 (GRCm39) |
M761L |
probably benign |
Het |
Ncln |
G |
A |
10: 81,324,131 (GRCm39) |
A465V |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,560,550 (GRCm39) |
N98S |
probably damaging |
Het |
Or52h9 |
T |
A |
7: 104,202,576 (GRCm39) |
V150E |
probably benign |
Het |
Or5a1 |
G |
C |
19: 12,097,734 (GRCm39) |
A114G |
possibly damaging |
Het |
Or6d15 |
C |
A |
6: 116,559,742 (GRCm39) |
S55I |
probably benign |
Het |
Or8b4 |
G |
T |
9: 37,830,849 (GRCm39) |
A304S |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,248 (GRCm39) |
I157M |
possibly damaging |
Het |
Pacsin2 |
T |
C |
15: 83,270,983 (GRCm39) |
Y222C |
probably damaging |
Het |
Pcdhb15 |
C |
T |
18: 37,607,221 (GRCm39) |
T151M |
possibly damaging |
Het |
Plcz1 |
C |
A |
6: 139,968,956 (GRCm39) |
V161L |
possibly damaging |
Het |
Ppp6c |
G |
A |
2: 39,090,136 (GRCm39) |
|
probably benign |
Het |
Relch |
A |
G |
1: 105,678,684 (GRCm39) |
|
probably benign |
Het |
Rhbdf2 |
T |
A |
11: 116,494,818 (GRCm39) |
Y286F |
probably benign |
Het |
Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
Slc35c2 |
A |
C |
2: 165,122,815 (GRCm39) |
Y156* |
probably null |
Het |
Spata46 |
A |
G |
1: 170,139,106 (GRCm39) |
D35G |
probably damaging |
Het |
Tmed3 |
A |
G |
9: 89,584,926 (GRCm39) |
F110L |
possibly damaging |
Het |
Tmem104 |
T |
G |
11: 115,092,134 (GRCm39) |
|
probably benign |
Het |
Tpbg |
T |
A |
9: 85,726,991 (GRCm39) |
V320E |
possibly damaging |
Het |
Trib2 |
T |
C |
12: 15,843,664 (GRCm39) |
D190G |
probably damaging |
Het |
Tspan2 |
A |
G |
3: 102,666,701 (GRCm39) |
T26A |
probably damaging |
Het |
Usp17lb |
A |
C |
7: 104,490,358 (GRCm39) |
Y190D |
possibly damaging |
Het |
Utp18 |
C |
T |
11: 93,770,973 (GRCm39) |
|
probably benign |
Het |
Utp20 |
A |
T |
10: 88,656,841 (GRCm39) |
D121E |
probably damaging |
Het |
Vmn1r80 |
T |
A |
7: 11,927,244 (GRCm39) |
M118K |
possibly damaging |
Het |
Vmn1r84 |
T |
C |
7: 12,095,794 (GRCm39) |
S300G |
probably benign |
Het |
|
Other mutations in Mroh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01574:Mroh1
|
APN |
15 |
76,316,488 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02141:Mroh1
|
APN |
15 |
76,330,799 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02146:Mroh1
|
APN |
15 |
76,318,879 (GRCm39) |
splice site |
probably benign |
|
IGL02205:Mroh1
|
APN |
15 |
76,321,439 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02261:Mroh1
|
APN |
15 |
76,313,360 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02818:Mroh1
|
APN |
15 |
76,316,601 (GRCm39) |
splice site |
probably null |
|
IGL02949:Mroh1
|
APN |
15 |
76,293,168 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02951:Mroh1
|
APN |
15 |
76,311,836 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03154:Mroh1
|
APN |
15 |
76,337,038 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02799:Mroh1
|
UTSW |
15 |
76,276,661 (GRCm39) |
critical splice donor site |
probably null |
|
R0068:Mroh1
|
UTSW |
15 |
76,330,892 (GRCm39) |
splice site |
probably benign |
|
R0068:Mroh1
|
UTSW |
15 |
76,330,892 (GRCm39) |
splice site |
probably benign |
|
R0076:Mroh1
|
UTSW |
15 |
76,335,340 (GRCm39) |
missense |
probably benign |
0.00 |
R0180:Mroh1
|
UTSW |
15 |
76,312,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R0315:Mroh1
|
UTSW |
15 |
76,311,800 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0350:Mroh1
|
UTSW |
15 |
76,316,449 (GRCm39) |
missense |
probably damaging |
0.98 |
R0835:Mroh1
|
UTSW |
15 |
76,336,083 (GRCm39) |
missense |
probably damaging |
0.96 |
R0893:Mroh1
|
UTSW |
15 |
76,293,138 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1109:Mroh1
|
UTSW |
15 |
76,330,709 (GRCm39) |
splice site |
probably benign |
|
R1527:Mroh1
|
UTSW |
15 |
76,336,463 (GRCm39) |
missense |
probably benign |
0.03 |
R1595:Mroh1
|
UTSW |
15 |
76,317,730 (GRCm39) |
splice site |
probably benign |
|
R1900:Mroh1
|
UTSW |
15 |
76,317,585 (GRCm39) |
missense |
probably benign |
0.00 |
R1901:Mroh1
|
UTSW |
15 |
76,320,249 (GRCm39) |
missense |
probably benign |
|
R2223:Mroh1
|
UTSW |
15 |
76,292,245 (GRCm39) |
critical splice donor site |
probably null |
|
R2415:Mroh1
|
UTSW |
15 |
76,305,411 (GRCm39) |
missense |
probably damaging |
0.99 |
R3113:Mroh1
|
UTSW |
15 |
76,292,736 (GRCm39) |
splice site |
probably benign |
|
R3437:Mroh1
|
UTSW |
15 |
76,317,808 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3618:Mroh1
|
UTSW |
15 |
76,336,546 (GRCm39) |
missense |
possibly damaging |
0.55 |
R3833:Mroh1
|
UTSW |
15 |
76,285,819 (GRCm39) |
missense |
probably benign |
0.08 |
R4073:Mroh1
|
UTSW |
15 |
76,292,185 (GRCm39) |
missense |
probably benign |
0.13 |
R4156:Mroh1
|
UTSW |
15 |
76,286,326 (GRCm39) |
splice site |
probably null |
|
R4276:Mroh1
|
UTSW |
15 |
76,278,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4745:Mroh1
|
UTSW |
15 |
76,292,730 (GRCm39) |
critical splice donor site |
probably null |
|
R5450:Mroh1
|
UTSW |
15 |
76,316,547 (GRCm39) |
intron |
probably benign |
|
R5574:Mroh1
|
UTSW |
15 |
76,318,131 (GRCm39) |
missense |
probably benign |
|
R5673:Mroh1
|
UTSW |
15 |
76,314,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R5970:Mroh1
|
UTSW |
15 |
76,335,691 (GRCm39) |
missense |
probably benign |
0.24 |
R5993:Mroh1
|
UTSW |
15 |
76,330,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R6008:Mroh1
|
UTSW |
15 |
76,335,557 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6082:Mroh1
|
UTSW |
15 |
76,314,423 (GRCm39) |
missense |
probably benign |
0.06 |
R6302:Mroh1
|
UTSW |
15 |
76,320,319 (GRCm39) |
critical splice donor site |
probably null |
|
R7030:Mroh1
|
UTSW |
15 |
76,321,517 (GRCm39) |
missense |
probably benign |
0.01 |
R7098:Mroh1
|
UTSW |
15 |
76,292,657 (GRCm39) |
nonsense |
probably null |
|
R7334:Mroh1
|
UTSW |
15 |
76,311,838 (GRCm39) |
missense |
probably benign |
0.00 |
R7337:Mroh1
|
UTSW |
15 |
76,335,676 (GRCm39) |
missense |
probably benign |
0.00 |
R7352:Mroh1
|
UTSW |
15 |
76,335,674 (GRCm39) |
missense |
probably benign |
0.06 |
R7446:Mroh1
|
UTSW |
15 |
76,336,472 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7453:Mroh1
|
UTSW |
15 |
76,317,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R7669:Mroh1
|
UTSW |
15 |
76,336,048 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7753:Mroh1
|
UTSW |
15 |
76,317,475 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7860:Mroh1
|
UTSW |
15 |
76,331,532 (GRCm39) |
missense |
probably benign |
0.00 |
R7990:Mroh1
|
UTSW |
15 |
76,336,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R8140:Mroh1
|
UTSW |
15 |
76,318,073 (GRCm39) |
missense |
probably benign |
0.00 |
R8325:Mroh1
|
UTSW |
15 |
76,316,415 (GRCm39) |
frame shift |
probably null |
|
R8334:Mroh1
|
UTSW |
15 |
76,330,756 (GRCm39) |
missense |
probably benign |
|
R8529:Mroh1
|
UTSW |
15 |
76,311,832 (GRCm39) |
missense |
probably benign |
0.00 |
R8544:Mroh1
|
UTSW |
15 |
76,327,558 (GRCm39) |
nonsense |
probably null |
|
R8688:Mroh1
|
UTSW |
15 |
76,312,550 (GRCm39) |
missense |
probably benign |
0.00 |
R8769:Mroh1
|
UTSW |
15 |
76,297,126 (GRCm39) |
missense |
probably benign |
0.00 |
R8782:Mroh1
|
UTSW |
15 |
76,298,496 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8887:Mroh1
|
UTSW |
15 |
76,331,474 (GRCm39) |
missense |
probably benign |
0.43 |
R8934:Mroh1
|
UTSW |
15 |
76,334,386 (GRCm39) |
missense |
probably benign |
0.03 |
R9254:Mroh1
|
UTSW |
15 |
76,292,215 (GRCm39) |
missense |
probably benign |
0.16 |
R9400:Mroh1
|
UTSW |
15 |
76,336,093 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9443:Mroh1
|
UTSW |
15 |
76,318,964 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Mroh1
|
UTSW |
15 |
76,307,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCTTTGGACACCTGAACAAGGC -3'
(R):5'- AGAACAGGTTGGTGCTCACTAGGC -3'
Sequencing Primer
(F):5'- ATGTCTTCCTGGAGCAGGTC -3'
(R):5'- CTCACTAGGCGGCCCAG -3'
|
Posted On |
2013-05-23 |