Incidental Mutation 'R6082:Mroh1'
ID |
482257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
044241-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R6082 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76314423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 700
(D700G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000160631]
[ENSMUST00000161305]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092595
AA Change: D700G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000090256 Gene: ENSMUSG00000022558 AA Change: D700G
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
4 |
435 |
4e-10 |
SMART |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096385
AA Change: D700G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: D700G
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: D700G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558 AA Change: D700G
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: ENSMUST00000160631
|
SMART Domains |
Protein: ENSMUSP00000123806 Gene: ENSMUSG00000022558
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160986
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161305
AA Change: D700G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183412
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
C |
1: 11,868,752 (GRCm39) |
I344T |
probably benign |
Het |
Adamts19 |
G |
A |
18: 59,101,846 (GRCm39) |
A639T |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,866,930 (GRCm39) |
D122G |
probably damaging |
Het |
Bin2 |
A |
G |
15: 100,543,029 (GRCm39) |
S358P |
possibly damaging |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Btaf1 |
C |
T |
19: 36,960,942 (GRCm39) |
R772C |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,390,301 (GRCm39) |
E1177G |
probably benign |
Het |
Clec4b2 |
A |
T |
6: 123,181,100 (GRCm39) |
|
probably null |
Het |
Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,970,193 (GRCm39) |
S87P |
probably damaging |
Het |
Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
Eif3a |
T |
C |
19: 60,760,568 (GRCm39) |
K682R |
possibly damaging |
Het |
Eif4e2 |
G |
T |
1: 87,153,956 (GRCm39) |
|
probably null |
Het |
Ephb1 |
T |
C |
9: 101,848,303 (GRCm39) |
D665G |
probably damaging |
Het |
Gbp7 |
G |
A |
3: 142,251,697 (GRCm39) |
V515M |
probably benign |
Het |
Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
Hook3 |
C |
A |
8: 26,600,813 (GRCm39) |
A32S |
probably benign |
Het |
Hoxb4 |
T |
C |
11: 96,209,359 (GRCm39) |
|
probably benign |
Het |
Idi1 |
T |
A |
13: 8,940,506 (GRCm39) |
Y229* |
probably null |
Het |
Lpl |
A |
T |
8: 69,349,301 (GRCm39) |
I276F |
probably damaging |
Het |
Ltbp4 |
T |
C |
7: 27,035,105 (GRCm39) |
|
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,905,998 (GRCm39) |
I64V |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Myt1l |
T |
C |
12: 29,892,518 (GRCm39) |
Y52H |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,267,402 (GRCm39) |
D777E |
probably benign |
Het |
Nudt4 |
A |
G |
10: 95,387,318 (GRCm39) |
I82T |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,962,374 (GRCm39) |
C653R |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,890,393 (GRCm39) |
Y7380H |
unknown |
Het |
Or13a18 |
A |
G |
7: 140,190,594 (GRCm39) |
T172A |
probably benign |
Het |
Or8b3b |
C |
A |
9: 38,583,866 (GRCm39) |
R291S |
probably damaging |
Het |
Or8j3 |
A |
C |
2: 86,028,661 (GRCm39) |
V145G |
probably damaging |
Het |
Or8s8 |
C |
T |
15: 98,354,647 (GRCm39) |
A152V |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,148,714 (GRCm39) |
M409K |
probably damaging |
Het |
Ptpn11 |
T |
C |
5: 121,292,589 (GRCm39) |
T253A |
probably benign |
Het |
Rabl6 |
C |
T |
2: 25,473,837 (GRCm39) |
|
probably benign |
Het |
Rnf14 |
T |
C |
18: 38,434,723 (GRCm39) |
S57P |
possibly damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Slco1b2 |
A |
C |
6: 141,609,396 (GRCm39) |
I269L |
probably benign |
Het |
Smchd1 |
A |
G |
17: 71,656,714 (GRCm39) |
Y1918H |
probably benign |
Het |
Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,972,511 (GRCm39) |
M615V |
probably benign |
Het |
Tnnt2 |
A |
G |
1: 135,777,172 (GRCm39) |
M199V |
probably benign |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Vmn2r73 |
T |
A |
7: 85,507,429 (GRCm39) |
I628L |
probably benign |
Het |
Zc2hc1b |
C |
A |
10: 13,047,055 (GRCm39) |
E19* |
probably null |
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 |
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 |
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'- TGCTTGCTTCCTCACGGATG -3'
(R):5'- GCCCTAGCCTTCATCTTGAGAG -3'
Sequencing Primer
(F):5'- CCGCGTGTATTTGTGTGCCTTC -3'
(R):5'- CTAGCCTTCATCTTGAGAGAGAGC -3'
|
Posted On |
2017-07-14 |