Incidental Mutation 'R8140:Mroh1'
ID |
632498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
067568-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R8140 (G1)
|
Quality Score |
171.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 76318073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 867
(H867N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000161305]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092595
AA Change: H858N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000090256 Gene: ENSMUSG00000022558 AA Change: H858N
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: H867N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: H867N
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: ENSMUST00000161305
AA Change: H858N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 93.9%
|
Validation Efficiency |
97% (64/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
A |
5: 64,055,954 (GRCm39) |
V230E |
possibly damaging |
Het |
Amotl1 |
G |
A |
9: 14,484,011 (GRCm39) |
|
probably null |
Het |
Atp7b |
C |
A |
8: 22,518,576 (GRCm39) |
E87D |
probably damaging |
Het |
Bcat2 |
C |
T |
7: 45,237,775 (GRCm39) |
P347L |
probably damaging |
Het |
Brox |
A |
T |
1: 183,075,437 (GRCm39) |
|
probably null |
Het |
Cd37 |
A |
G |
7: 44,887,959 (GRCm39) |
I58T |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,252,829 (GRCm39) |
M333K |
probably benign |
Het |
Chtop |
A |
G |
3: 90,412,700 (GRCm39) |
|
probably null |
Het |
Cpa2 |
A |
T |
6: 30,544,904 (GRCm39) |
K54N |
probably benign |
Het |
Cpa6 |
A |
G |
1: 10,395,519 (GRCm39) |
S383P |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,540,748 (GRCm39) |
I2542N |
probably benign |
Het |
Eif5b |
G |
A |
1: 38,090,357 (GRCm39) |
V1179I |
probably benign |
Het |
Erbin |
T |
C |
13: 104,056,802 (GRCm39) |
|
probably null |
Het |
Fastkd5 |
A |
T |
2: 130,457,170 (GRCm39) |
D473E |
possibly damaging |
Het |
Fchsd1 |
T |
C |
18: 38,097,395 (GRCm39) |
E372G |
probably damaging |
Het |
Fgl1 |
T |
C |
8: 41,653,646 (GRCm39) |
|
probably null |
Het |
Fzd8 |
T |
G |
18: 9,213,797 (GRCm39) |
V293G |
probably damaging |
Het |
Gm4787 |
T |
A |
12: 81,424,925 (GRCm39) |
H411L |
probably benign |
Het |
Gm49380 |
G |
T |
9: 44,023,269 (GRCm39) |
D326E |
probably benign |
Het |
Hcrtr1 |
G |
A |
4: 130,029,083 (GRCm39) |
R240C |
probably damaging |
Het |
Hdac5 |
A |
T |
11: 102,088,181 (GRCm39) |
Y948N |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,295,167 (GRCm39) |
S301G |
probably benign |
Het |
Htra4 |
A |
T |
8: 25,520,574 (GRCm39) |
D362E |
possibly damaging |
Het |
Ighv1-9 |
G |
A |
12: 114,547,361 (GRCm39) |
P60L |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,867,390 (GRCm39) |
I751T |
probably damaging |
Het |
Magi3 |
T |
C |
3: 103,941,402 (GRCm39) |
Y851C |
probably damaging |
Het |
Mefv |
A |
G |
16: 3,531,499 (GRCm39) |
S470P |
probably benign |
Het |
Mfsd2a |
C |
T |
4: 122,843,091 (GRCm39) |
V397I |
probably benign |
Het |
Mthfd1l |
C |
T |
10: 3,957,745 (GRCm39) |
R261* |
probably null |
Het |
Myo3a |
A |
G |
2: 22,412,157 (GRCm39) |
I725M |
probably damaging |
Het |
Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
Nek11 |
G |
T |
9: 105,270,156 (GRCm39) |
P22Q |
probably damaging |
Het |
Or4p18 |
T |
C |
2: 88,232,457 (GRCm39) |
T274A |
possibly damaging |
Het |
Or5k15 |
T |
C |
16: 58,709,948 (GRCm39) |
T212A |
probably benign |
Het |
Or9q2 |
A |
T |
19: 13,772,603 (GRCm39) |
V124E |
possibly damaging |
Het |
Peg10 |
C |
G |
6: 4,756,113 (GRCm39) |
Q230E |
unknown |
Het |
Pipox |
T |
C |
11: 77,774,735 (GRCm39) |
D116G |
probably benign |
Het |
Pkd1l2 |
C |
T |
8: 117,774,236 (GRCm39) |
R993H |
probably benign |
Het |
Pkdrej |
A |
C |
15: 85,702,611 (GRCm39) |
N1108K |
probably damaging |
Het |
Polr2a |
C |
T |
11: 69,637,202 (GRCm39) |
R291Q |
probably benign |
Het |
Pomt1 |
T |
A |
2: 32,134,309 (GRCm39) |
Y277N |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 157,126,805 (GRCm39) |
S78P |
probably damaging |
Het |
Rgl1 |
A |
T |
1: 152,433,252 (GRCm39) |
L171Q |
probably damaging |
Het |
Sfta2 |
A |
G |
17: 35,912,666 (GRCm39) |
E14G |
unknown |
Het |
Sh3rf3 |
T |
A |
10: 58,885,177 (GRCm39) |
S353R |
possibly damaging |
Het |
Slc37a1 |
A |
T |
17: 31,541,233 (GRCm39) |
I242F |
probably damaging |
Het |
Srfbp1 |
T |
A |
18: 52,621,762 (GRCm39) |
D274E |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,959,127 (GRCm39) |
S685R |
possibly damaging |
Het |
Tenm4 |
A |
C |
7: 96,544,383 (GRCm39) |
D2170A |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,691,265 (GRCm39) |
T472A |
probably damaging |
Het |
Tspan9 |
T |
C |
6: 127,942,241 (GRCm39) |
H203R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,601,995 (GRCm39) |
T18556A |
possibly damaging |
Het |
Usp25 |
T |
A |
16: 76,868,569 (GRCm39) |
Y323* |
probably null |
Het |
Usp31 |
G |
T |
7: 121,248,249 (GRCm39) |
R1065S |
possibly damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,032,058 (GRCm39) |
T611S |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,864,317 (GRCm39) |
V552A |
|
Het |
Zap70 |
G |
T |
1: 36,810,262 (GRCm39) |
R124L |
possibly damaging |
Het |
Zfand6 |
A |
T |
7: 84,281,957 (GRCm39) |
S91T |
possibly 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 |
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 |
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'- CGTCTGAACGTAATGGTAGCTGG -3'
(R):5'- AGTCTTCAAGGGCACACACC -3'
Sequencing Primer
(F):5'- TGGACCATCCATGTAGGCC -3'
(R):5'- TGTCCAGATACAGAGGCTGC -3'
|
Posted On |
2020-06-30 |