Incidental Mutation 'R5970:Mroh1'
| ID |
470823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| MMRRC Submission |
044153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76380261-76453038 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76451491 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1436
(V1436M)
|
| 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: V1445M
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: V1445M
| 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: V1436M
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: V1436M
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
G |
A |
6: 90,597,046 (GRCm38) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,467,951 (GRCm38) |
V413A |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,596,528 (GRCm38) |
D41V |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,340,047 (GRCm38) |
V184A |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,618,502 (GRCm38) |
G936V |
possibly damaging |
Het |
| Ccser1 |
T |
A |
6: 61,311,242 (GRCm38) |
S130T |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,720,907 (GRCm38) |
I56V |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,930,744 (GRCm38) |
I486T |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,716,329 (GRCm38) |
I1557V |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,945,847 (GRCm38) |
I104F |
unknown |
Het |
| Cry2 |
A |
G |
2: 92,412,967 (GRCm38) |
S510P |
probably benign |
Het |
| Csmd2 |
G |
C |
4: 128,546,151 (GRCm38) |
A3133P |
probably benign |
Het |
| Cyld |
G |
T |
8: 88,732,993 (GRCm38) |
A611S |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,825,512 (GRCm38) |
G1197E |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,808,729 (GRCm38) |
F2969L |
probably benign |
Het |
| Dnaic1 |
A |
G |
4: 41,625,281 (GRCm38) |
K415R |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,854,171 (GRCm38) |
T1253S |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,195,702 (GRCm38) |
L1542P |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,340,201 (GRCm38) |
L1234Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 3,968,590 (GRCm38) |
R585S |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,699,352 (GRCm38) |
|
probably null |
Het |
| Heatr6 |
G |
A |
11: 83,753,718 (GRCm38) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,784 (GRCm38) |
D431G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,829,289 (GRCm38) |
N1543D |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,625,380 (GRCm38) |
K154R |
probably benign |
Het |
| Mical3 |
G |
A |
6: 120,958,271 (GRCm38) |
Q893* |
probably null |
Het |
| Morc3 |
C |
T |
16: 93,866,453 (GRCm38) |
H515Y |
possibly damaging |
Het |
| Mprip |
A |
T |
11: 59,757,721 (GRCm38) |
R750S |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,790,669 (GRCm38) |
R69* |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,856,712 (GRCm38) |
Y1274F |
unknown |
Het |
| Mybpc1 |
A |
G |
10: 88,542,456 (GRCm38) |
L674P |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,131,023 (GRCm38) |
V958A |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,296,818 (GRCm38) |
T2436A |
probably benign |
Het |
| Olfr835 |
A |
G |
9: 19,035,147 (GRCm38) |
D8G |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,321,773 (GRCm38) |
L402Q |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,370,194 (GRCm38) |
|
probably null |
Het |
| Rp1 |
A |
G |
1: 4,348,462 (GRCm38) |
L809P |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,494,781 (GRCm38) |
|
probably benign |
Het |
| Sdf2 |
A |
T |
11: 78,246,080 (GRCm38) |
M29L |
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,134,091 (GRCm38) |
L311V |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,523,488 (GRCm38) |
Y349* |
probably null |
Het |
| Spidr |
A |
C |
16: 16,114,869 (GRCm38) |
C182W |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,377,798 (GRCm38) |
S146R |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,653,582 (GRCm38) |
V145A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 58,980,016 (GRCm38) |
|
probably null |
Het |
| Tcp11l2 |
T |
A |
10: 84,594,797 (GRCm38) |
|
probably benign |
Het |
| Tfdp2 |
C |
T |
9: 96,317,574 (GRCm38) |
P74S |
unknown |
Het |
| Tmprss15 |
C |
T |
16: 79,057,659 (GRCm38) |
R287H |
probably benign |
Het |
| Trav10d |
T |
C |
14: 52,811,322 (GRCm38) |
Y57H |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,029,471 (GRCm38) |
I846T |
probably benign |
Het |
| Ywhah |
T |
A |
5: 33,026,948 (GRCm38) |
M165K |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,969,366 (GRCm38) |
P72T |
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 |
|
|
R0076:Mroh1
|
UTSW |
15 |
76,451,140 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTACCACGACATAGGGAAAG -3'
(R):5'- CAGGAGGTTGTAGGCTAACAC -3'
Sequencing Primer
(F):5'- GGTTCACCTGGAGGGGG -3'
(R):5'- CACAGAAGATTCGATCATTGGTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation