Incidental Mutation 'R5993:Mroh1'
ID |
480962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
044172-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5993 (G1)
|
Quality Score |
205.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 76330880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 1197
(A1197E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096385]
[ENSMUST00000159218]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096385
AA Change: A1197E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: A1197E
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 |
possibly damaging
Transcript: ENSMUST00000159218
AA Change: A1188E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558 AA Change: A1188E
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: ENSMUST00000161683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161962
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
T |
15: 94,236,604 (GRCm39) |
N805K |
probably damaging |
Het |
Add1 |
A |
C |
5: 34,758,877 (GRCm39) |
S64R |
probably damaging |
Het |
Alas1 |
A |
G |
9: 106,111,328 (GRCm39) |
F613L |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,487,531 (GRCm39) |
|
probably benign |
Het |
Anks3 |
C |
T |
16: 4,776,001 (GRCm39) |
G67D |
probably damaging |
Het |
Aspm |
C |
T |
1: 139,407,269 (GRCm39) |
T2052I |
probably benign |
Het |
Atp8b4 |
C |
T |
2: 126,245,154 (GRCm39) |
V332I |
probably benign |
Het |
Bin2 |
CGGAGCTGA |
C |
15: 100,542,901 (GRCm39) |
|
probably null |
Het |
Bpifb3 |
T |
A |
2: 153,771,234 (GRCm39) |
M382K |
probably benign |
Het |
Ccdc149 |
C |
T |
5: 52,560,117 (GRCm39) |
R246Q |
probably damaging |
Het |
Ccdc57 |
T |
C |
11: 120,785,550 (GRCm39) |
K462E |
possibly damaging |
Het |
Cux1 |
T |
C |
5: 136,392,125 (GRCm39) |
T9A |
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 44,000,799 (GRCm39) |
Y362H |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 103,998,412 (GRCm39) |
I998T |
probably damaging |
Het |
Dclre1a |
A |
C |
19: 56,531,169 (GRCm39) |
Y726D |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,299,372 (GRCm39) |
V1578A |
probably benign |
Het |
Dppa4 |
C |
T |
16: 48,109,709 (GRCm39) |
R110* |
probably null |
Het |
Drc7 |
T |
A |
8: 95,800,820 (GRCm39) |
V614E |
probably benign |
Het |
Garin2 |
C |
A |
12: 78,762,210 (GRCm39) |
N12K |
probably damaging |
Het |
Gcc1 |
G |
A |
6: 28,424,851 (GRCm39) |
|
probably null |
Het |
Greb1l |
G |
A |
18: 10,544,455 (GRCm39) |
D1350N |
probably benign |
Het |
Kcnc1 |
G |
A |
7: 46,076,956 (GRCm39) |
V253M |
probably damaging |
Het |
Krt78 |
T |
A |
15: 101,858,884 (GRCm39) |
I323F |
probably damaging |
Het |
Man2b2 |
A |
G |
5: 36,978,324 (GRCm39) |
V320A |
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,454,161 (GRCm39) |
F112Y |
probably benign |
Het |
Mrc1 |
A |
G |
2: 14,310,138 (GRCm39) |
T800A |
probably damaging |
Het |
Nlrp10 |
A |
T |
7: 108,526,220 (GRCm39) |
H39Q |
probably benign |
Het |
Nop2 |
C |
T |
6: 125,120,982 (GRCm39) |
T588I |
probably benign |
Het |
Oxld1 |
A |
G |
11: 120,347,835 (GRCm39) |
S121P |
probably benign |
Het |
Pakap |
A |
G |
4: 57,855,273 (GRCm39) |
K444E |
possibly damaging |
Het |
Prox1 |
T |
A |
1: 189,894,436 (GRCm39) |
D3V |
probably damaging |
Het |
Ptk7 |
T |
C |
17: 46,876,296 (GRCm39) |
T1052A |
probably benign |
Het |
Rhot2 |
T |
A |
17: 26,060,085 (GRCm39) |
T299S |
probably benign |
Het |
Rhov |
A |
G |
2: 119,100,533 (GRCm39) |
F235L |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,841,863 (GRCm39) |
R158S |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,875,490 (GRCm39) |
E431D |
probably benign |
Het |
Sema3e |
A |
G |
5: 14,274,307 (GRCm39) |
E186G |
probably damaging |
Het |
Sema5b |
T |
A |
16: 35,466,572 (GRCm39) |
L158H |
probably damaging |
Het |
Serpina3j |
A |
G |
12: 104,280,946 (GRCm39) |
T40A |
probably benign |
Het |
Shroom3 |
A |
T |
5: 93,088,047 (GRCm39) |
S185C |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,666,276 (GRCm39) |
V1183D |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,739,732 (GRCm39) |
V3405A |
probably benign |
Het |
Supt16 |
C |
A |
14: 52,415,791 (GRCm39) |
R357L |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,069,253 (GRCm39) |
|
probably null |
Het |
Topaz1 |
T |
C |
9: 122,578,104 (GRCm39) |
L338S |
probably benign |
Het |
Ttll3 |
T |
A |
6: 113,374,992 (GRCm39) |
Y139* |
probably null |
Het |
Ttn |
T |
G |
2: 76,626,251 (GRCm39) |
D6641A |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,743,163 (GRCm39) |
D886G |
probably benign |
Het |
Zc3h7a |
T |
A |
16: 10,968,526 (GRCm39) |
K484N |
probably damaging |
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 |
R0399:Mroh1
|
UTSW |
15 |
76,336,299 (GRCm39) |
missense |
probably benign |
0.44 |
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 |
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'- TGGCTCACGATGCATTTTCTTG -3'
(R):5'- GGAGAGGAAATTCTCACAGCTG -3'
Sequencing Primer
(F):5'- CACGATGCATTTTCTTGCTGTTG -3'
(R):5'- GGAAATTCTCACAGCTGCTTTATTGC -3'
|
Posted On |
2017-06-26 |