Incidental Mutation 'R0076:Mroh1'
| ID |
16364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| MMRRC Submission |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76380261-76453038 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76451140 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1365
(S1365P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124811
(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: S1374P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: S1374P
| 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: S1365P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: S1365P
| 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 |
probably benign
Transcript: ENSMUST00000161265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229897
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 89.9%
- 3x: 87.5%
- 10x: 81.6%
- 20x: 72.8%
|
| Validation Efficiency |
92% (83/90) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 120,373,685 (GRCm38) |
|
probably benign |
Het |
| Acp3 |
A |
G |
9: 104,324,218 (GRCm38) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,727,603 (GRCm38) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,244,406 (GRCm38) |
K1693* |
probably null |
Het |
| Arhgef38 |
T |
A |
3: 133,160,746 (GRCm38) |
H210L |
possibly damaging |
Het |
| Car10 |
G |
A |
11: 93,490,597 (GRCm38) |
E129K |
possibly damaging |
Het |
| Cask |
A |
G |
X: 13,678,274 (GRCm38) |
|
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,410,862 (GRCm38) |
D406G |
probably damaging |
Het |
| Cd93 |
T |
C |
2: 148,442,136 (GRCm38) |
D430G |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,817,840 (GRCm38) |
|
probably benign |
Het |
| Cerkl |
A |
T |
2: 79,343,289 (GRCm38) |
S259T |
possibly damaging |
Het |
| Cfap91 |
G |
A |
16: 38,302,684 (GRCm38) |
Q661* |
probably null |
Het |
| Cog8 |
T |
C |
8: 107,054,133 (GRCm38) |
I164M |
possibly damaging |
Het |
| Col4a1 |
G |
A |
8: 11,218,713 (GRCm38) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,237,497 (GRCm38) |
|
probably null |
Het |
| Dcc |
G |
A |
18: 71,321,046 (GRCm38) |
Q1241* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,911,486 (GRCm38) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,792,808 (GRCm38) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 70,008,100 (GRCm38) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,897,753 (GRCm38) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,227,226 (GRCm38) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,857,655 (GRCm38) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,945,464 (GRCm38) |
T188A |
possibly damaging |
Het |
| Gm11437 |
T |
C |
11: 84,148,636 (GRCm38) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,353,132 (GRCm38) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 46,817,455 (GRCm38) |
A11S |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,190,705 (GRCm38) |
|
probably benign |
Het |
| Ifitm6 |
T |
A |
7: 141,016,007 (GRCm38) |
R124S |
possibly damaging |
Het |
| Il17rd |
T |
A |
14: 27,094,854 (GRCm38) |
L172Q |
probably damaging |
Het |
| Il4 |
A |
T |
11: 53,613,914 (GRCm38) |
L13Q |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,575,909 (GRCm38) |
M516T |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,830,059 (GRCm38) |
|
probably benign |
Het |
| Mark1-ps1 |
T |
A |
17: 53,947,877 (GRCm38) |
|
noncoding transcript |
Het |
| Mndal |
G |
T |
1: 173,874,447 (GRCm38) |
C96* |
probably null |
Het |
| Mrpl12 |
A |
G |
11: 120,485,442 (GRCm38) |
|
probably benign |
Het |
| Mthfsd |
C |
A |
8: 121,098,739 (GRCm38) |
V270F |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,324,336 (GRCm38) |
V555D |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,478,359 (GRCm38) |
V124A |
probably damaging |
Het |
| Pla2g10 |
T |
A |
16: 13,715,518 (GRCm38) |
Y131F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,191,414 (GRCm38) |
|
probably benign |
Het |
| Polr2b |
T |
A |
5: 77,326,561 (GRCm38) |
V415E |
possibly damaging |
Het |
| Pou6f1 |
G |
A |
15: 100,587,836 (GRCm38) |
Q106* |
probably null |
Het |
| Ptprd |
T |
C |
4: 75,947,039 (GRCm38) |
|
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,609,480 (GRCm38) |
|
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,991,397 (GRCm38) |
R22Q |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,714,037 (GRCm38) |
V370A |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,678,891 (GRCm38) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,064,937 (GRCm38) |
|
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,685,501 (GRCm38) |
Y254* |
probably null |
Het |
| Steap3 |
G |
A |
1: 120,227,730 (GRCm38) |
R500C |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,603,722 (GRCm38) |
T580A |
probably benign |
Het |
| Tpo |
C |
T |
12: 30,104,023 (GRCm38) |
G228R |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,893,683 (GRCm38) |
F744L |
probably damaging |
Het |
| Ube3b |
G |
T |
5: 114,408,217 (GRCm38) |
|
probably null |
Het |
| Vmn2r84 |
A |
G |
10: 130,394,193 (GRCm38) |
S17P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 145,164,694 (GRCm38) |
|
probably benign |
Het |
| Zfp532 |
T |
A |
18: 65,685,627 (GRCm38) |
S851R |
probably benign |
Het |
| Zfp623 |
G |
A |
15: 75,947,209 (GRCm38) |
E5K |
probably benign |
Het |
|
| Other mutations in Mroh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Mroh1
|
APN |
15 |
76,432,288 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02141:Mroh1
|
APN |
15 |
76,446,599 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02146:Mroh1
|
APN |
15 |
76,434,679 (GRCm38) |
splice site |
probably benign |
|
|
IGL02205:Mroh1
|
APN |
15 |
76,437,239 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02261:Mroh1
|
APN |
15 |
76,429,160 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02818:Mroh1
|
APN |
15 |
76,432,401 (GRCm38) |
splice site |
probably null |
|
|
IGL02949:Mroh1
|
APN |
15 |
76,408,968 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02951:Mroh1
|
APN |
15 |
76,427,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03154:Mroh1
|
APN |
15 |
76,452,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02799:Mroh1
|
UTSW |
15 |
76,392,461 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0068:Mroh1
|
UTSW |
15 |
76,446,692 (GRCm38) |
splice site |
probably benign |
|
|
R0068:Mroh1
|
UTSW |
15 |
76,446,692 (GRCm38) |
splice site |
probably benign |
|
|
R0180:Mroh1
|
UTSW |
15 |
76,428,250 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0315:Mroh1
|
UTSW |
15 |
76,427,600 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0350:Mroh1
|
UTSW |
15 |
76,432,249 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0399:Mroh1
|
UTSW |
15 |
76,452,099 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0835:Mroh1
|
UTSW |
15 |
76,451,883 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0893:Mroh1
|
UTSW |
15 |
76,408,938 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1109:Mroh1
|
UTSW |
15 |
76,446,509 (GRCm38) |
splice site |
probably benign |
|
|
R1527:Mroh1
|
UTSW |
15 |
76,452,263 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1595:Mroh1
|
UTSW |
15 |
76,433,530 (GRCm38) |
splice site |
probably benign |
|
|
R1900:Mroh1
|
UTSW |
15 |
76,433,385 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1901:Mroh1
|
UTSW |
15 |
76,436,049 (GRCm38) |
missense |
probably benign |
|
|
R2223:Mroh1
|
UTSW |
15 |
76,408,045 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2415:Mroh1
|
UTSW |
15 |
76,421,211 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3113:Mroh1
|
UTSW |
15 |
76,408,536 (GRCm38) |
splice site |
probably benign |
|
|
R3437:Mroh1
|
UTSW |
15 |
76,433,608 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3618:Mroh1
|
UTSW |
15 |
76,452,346 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R3833:Mroh1
|
UTSW |
15 |
76,401,619 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4073:Mroh1
|
UTSW |
15 |
76,407,985 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4156:Mroh1
|
UTSW |
15 |
76,402,126 (GRCm38) |
splice site |
probably null |
|
|
R4276:Mroh1
|
UTSW |
15 |
76,393,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4745:Mroh1
|
UTSW |
15 |
76,408,530 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5450:Mroh1
|
UTSW |
15 |
76,432,347 (GRCm38) |
intron |
probably benign |
|
|
R5574:Mroh1
|
UTSW |
15 |
76,433,931 (GRCm38) |
missense |
probably benign |
|
|
R5673:Mroh1
|
UTSW |
15 |
76,430,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5970:Mroh1
|
UTSW |
15 |
76,451,491 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5993:Mroh1
|
UTSW |
15 |
76,446,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6008:Mroh1
|
UTSW |
15 |
76,451,357 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6082:Mroh1
|
UTSW |
15 |
76,430,223 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6302:Mroh1
|
UTSW |
15 |
76,436,119 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7030:Mroh1
|
UTSW |
15 |
76,437,317 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7098:Mroh1
|
UTSW |
15 |
76,408,457 (GRCm38) |
nonsense |
probably null |
|
|
R7334:Mroh1
|
UTSW |
15 |
76,427,638 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7337:Mroh1
|
UTSW |
15 |
76,451,476 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7352:Mroh1
|
UTSW |
15 |
76,451,474 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7446:Mroh1
|
UTSW |
15 |
76,452,272 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7453:Mroh1
|
UTSW |
15 |
76,433,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7669:Mroh1
|
UTSW |
15 |
76,451,848 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7753:Mroh1
|
UTSW |
15 |
76,433,275 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7860:Mroh1
|
UTSW |
15 |
76,447,332 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7990:Mroh1
|
UTSW |
15 |
76,452,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8140:Mroh1
|
UTSW |
15 |
76,433,873 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8325:Mroh1
|
UTSW |
15 |
76,432,215 (GRCm38) |
frame shift |
probably null |
|
|
R8334:Mroh1
|
UTSW |
15 |
76,446,556 (GRCm38) |
missense |
probably benign |
|
|
R8529:Mroh1
|
UTSW |
15 |
76,427,632 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8544:Mroh1
|
UTSW |
15 |
76,443,358 (GRCm38) |
nonsense |
probably null |
|
|
R8688:Mroh1
|
UTSW |
15 |
76,428,350 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8769:Mroh1
|
UTSW |
15 |
76,412,926 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8782:Mroh1
|
UTSW |
15 |
76,414,296 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8887:Mroh1
|
UTSW |
15 |
76,447,274 (GRCm38) |
missense |
probably benign |
0.43 |
|
R8934:Mroh1
|
UTSW |
15 |
76,450,186 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9254:Mroh1
|
UTSW |
15 |
76,408,015 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9400:Mroh1
|
UTSW |
15 |
76,451,893 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9443:Mroh1
|
UTSW |
15 |
76,434,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Mroh1
|
UTSW |
15 |
76,423,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation