Incidental Mutation 'R3113:Mroh1'
ID |
263907 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
040586-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R3113 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 76292736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000161305]
[ENSMUST00000162319]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092595
|
SMART Domains |
Protein: ENSMUSP00000090256 Gene: ENSMUSG00000022558
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
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558
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 |
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558
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: ENSMUST00000160986
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162204
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162319
|
SMART Domains |
Protein: ENSMUSP00000124353 Gene: ENSMUSG00000022558
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
4 |
267 |
9e-6 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,100,372 (GRCm39) |
Y248* |
probably null |
Het |
Acta2 |
T |
C |
19: 34,220,752 (GRCm39) |
I319V |
probably benign |
Het |
Alox15 |
A |
T |
11: 70,235,703 (GRCm39) |
N585K |
probably benign |
Het |
Ank |
T |
A |
15: 27,571,700 (GRCm39) |
I324N |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,574,813 (GRCm39) |
N99D |
probably damaging |
Het |
As3mt |
T |
C |
19: 46,703,717 (GRCm39) |
|
probably benign |
Het |
Atg4b |
C |
T |
1: 93,703,426 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
T |
7: 126,047,541 (GRCm39) |
V705D |
probably damaging |
Het |
Bves |
T |
C |
10: 45,219,148 (GRCm39) |
V82A |
probably benign |
Het |
Cad |
C |
A |
5: 31,231,481 (GRCm39) |
H7Q |
possibly damaging |
Het |
Carmil1 |
A |
G |
13: 24,253,740 (GRCm39) |
V387A |
probably benign |
Het |
Csnk2a1 |
T |
A |
2: 152,105,134 (GRCm39) |
F181Y |
probably damaging |
Het |
Cwc22 |
A |
T |
2: 77,754,823 (GRCm39) |
|
probably benign |
Het |
Ddx18 |
A |
G |
1: 121,493,877 (GRCm39) |
S36P |
possibly damaging |
Het |
Dnai2 |
T |
A |
11: 114,642,756 (GRCm39) |
|
probably null |
Het |
Ehbp1l1 |
A |
T |
19: 5,769,008 (GRCm39) |
M765K |
probably benign |
Het |
Fitm2 |
T |
C |
2: 163,311,511 (GRCm39) |
Y234C |
probably damaging |
Het |
Flrt3 |
T |
C |
2: 140,503,454 (GRCm39) |
E58G |
probably benign |
Het |
Foxs1 |
A |
G |
2: 152,774,156 (GRCm39) |
V299A |
probably benign |
Het |
Galnt12 |
A |
G |
4: 47,108,415 (GRCm39) |
N184S |
probably benign |
Het |
Gata6 |
T |
C |
18: 11,063,124 (GRCm39) |
L464P |
probably damaging |
Het |
Gm17332 |
T |
C |
11: 31,132,384 (GRCm39) |
T27A |
possibly damaging |
Het |
Ifna11 |
A |
C |
4: 88,738,220 (GRCm39) |
M9L |
probably benign |
Het |
Ldb3 |
T |
A |
14: 34,251,418 (GRCm39) |
*623L |
probably null |
Het |
Lrrc27 |
A |
G |
7: 138,798,223 (GRCm39) |
D106G |
probably damaging |
Het |
Ly6f |
A |
G |
15: 75,143,577 (GRCm39) |
N95D |
probably benign |
Het |
Lyst |
A |
G |
13: 13,844,512 (GRCm39) |
I1901V |
probably benign |
Het |
Mboat2 |
A |
G |
12: 24,932,718 (GRCm39) |
Y70C |
probably damaging |
Het |
Mmut |
G |
A |
17: 41,269,247 (GRCm39) |
G610D |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,399,871 (GRCm39) |
H448R |
unknown |
Het |
Myh2 |
A |
G |
11: 67,076,012 (GRCm39) |
N733S |
probably damaging |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
Ocrl |
A |
G |
X: 47,022,304 (GRCm39) |
E258G |
probably benign |
Het |
Or2w1 |
T |
A |
13: 21,317,299 (GRCm39) |
M118K |
probably damaging |
Het |
Or6c2 |
A |
T |
10: 129,363,012 (GRCm39) |
R305S |
probably benign |
Het |
Pak1 |
C |
A |
7: 97,515,321 (GRCm39) |
S115* |
probably null |
Het |
Pilrb1 |
C |
T |
5: 137,853,195 (GRCm39) |
V203I |
possibly damaging |
Het |
Ppfia2 |
T |
A |
10: 106,742,256 (GRCm39) |
Y1016* |
probably null |
Het |
Prmt3 |
C |
A |
7: 49,431,760 (GRCm39) |
P121Q |
probably damaging |
Het |
Rhox6 |
T |
A |
X: 36,916,507 (GRCm39) |
I116N |
possibly damaging |
Het |
Saxo2 |
A |
C |
7: 82,292,949 (GRCm39) |
F49L |
probably benign |
Het |
Scn2a |
A |
C |
2: 65,579,129 (GRCm39) |
D1488A |
possibly damaging |
Het |
Scn5a |
T |
A |
9: 119,314,738 (GRCm39) |
D1989V |
probably damaging |
Het |
Sec31b |
C |
A |
19: 44,506,624 (GRCm39) |
E905* |
probably null |
Het |
Secisbp2l |
A |
T |
2: 125,592,206 (GRCm39) |
F672I |
probably damaging |
Het |
Slc22a23 |
C |
T |
13: 34,367,058 (GRCm39) |
G650E |
probably damaging |
Het |
Smu1 |
A |
G |
4: 40,748,658 (GRCm39) |
F211L |
probably benign |
Het |
Spef1l |
G |
T |
7: 139,555,878 (GRCm39) |
|
probably benign |
Het |
Tab1 |
C |
T |
15: 80,032,461 (GRCm39) |
L23F |
probably benign |
Het |
Thsd7b |
G |
A |
1: 129,977,599 (GRCm39) |
C1078Y |
probably benign |
Het |
Ttn |
A |
T |
2: 76,644,542 (GRCm39) |
Y13071N |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 102,899,870 (GRCm39) |
V354A |
probably benign |
Het |
Usp31 |
A |
G |
7: 121,278,736 (GRCm39) |
S210P |
probably damaging |
Het |
Wdr12 |
T |
C |
1: 60,126,221 (GRCm39) |
D198G |
probably benign |
Het |
Wrap53 |
A |
G |
11: 69,454,144 (GRCm39) |
V298A |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,340,491 (GRCm39) |
I911V |
probably benign |
Het |
Zcchc2 |
T |
C |
1: 105,918,752 (GRCm39) |
M78T |
unknown |
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 |
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 |
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'- CAACCGTAGACATAGGGCTCAG -3'
(R):5'- AAGCAATGTGTTTTCTGGGTCAC -3'
Sequencing Primer
(F):5'- TAGACATAGGGCTCAGGGCAG -3'
(R):5'- CTGGGTCACAGGTCACTATG -3'
|
Posted On |
2015-02-05 |