Incidental Mutation 'R0893:Mroh1'
ID |
83621 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
039056-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R0893 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76293138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 304
(V304D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000161305]
[ENSMUST00000162319]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092595
AA Change: V304D
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000090256 Gene: ENSMUSG00000022558 AA Change: V304D
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 |
possibly damaging
Transcript: ENSMUST00000096385
AA Change: V304D
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: V304D
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: V304D
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558 AA Change: V304D
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 |
possibly damaging
Transcript: ENSMUST00000161305
AA Change: V304D
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,266,082 (GRCm39) |
|
probably benign |
Het |
Adnp |
A |
T |
2: 168,025,647 (GRCm39) |
F549L |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
Aldh8a1 |
T |
A |
10: 21,267,593 (GRCm39) |
M326K |
probably benign |
Het |
Amdhd1 |
A |
T |
10: 93,363,513 (GRCm39) |
M295K |
probably damaging |
Het |
Arhgef4 |
T |
A |
1: 34,846,191 (GRCm39) |
C324S |
probably damaging |
Het |
Car8 |
A |
T |
4: 8,238,119 (GRCm39) |
|
probably null |
Het |
Cc2d1a |
T |
C |
8: 84,867,468 (GRCm39) |
|
probably benign |
Het |
Cd81 |
G |
A |
7: 142,616,242 (GRCm39) |
V27M |
possibly damaging |
Het |
Ces1b |
A |
T |
8: 93,806,056 (GRCm39) |
S62T |
probably benign |
Het |
Cfb |
A |
G |
17: 35,077,031 (GRCm39) |
S30P |
probably damaging |
Het |
Cmtm3 |
A |
G |
8: 105,070,543 (GRCm39) |
M101V |
possibly damaging |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,280 (GRCm39) |
S269L |
probably benign |
Het |
Ddx25 |
G |
A |
9: 35,465,686 (GRCm39) |
Q143* |
probably null |
Het |
Dis3l2 |
T |
A |
1: 86,971,928 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
G |
T |
2: 156,587,898 (GRCm39) |
E598* |
probably null |
Het |
Dus1l |
C |
T |
11: 120,680,262 (GRCm39) |
G471D |
possibly damaging |
Het |
Elp4 |
C |
A |
2: 105,727,290 (GRCm39) |
|
probably benign |
Het |
Eya3 |
A |
G |
4: 132,417,097 (GRCm39) |
N194S |
probably benign |
Het |
Golgb1 |
G |
T |
16: 36,732,639 (GRCm39) |
V629L |
possibly damaging |
Het |
Hars2 |
G |
A |
18: 36,920,648 (GRCm39) |
A164T |
possibly damaging |
Het |
Hexb |
T |
A |
13: 97,322,135 (GRCm39) |
I217L |
probably benign |
Het |
Hgh1 |
A |
G |
15: 76,253,848 (GRCm39) |
|
probably null |
Het |
Hsd3b3 |
A |
T |
3: 98,649,757 (GRCm39) |
|
probably null |
Het |
Ighg2c |
T |
A |
12: 113,251,053 (GRCm39) |
N321Y |
unknown |
Het |
Il5 |
A |
G |
11: 53,611,763 (GRCm39) |
T34A |
probably benign |
Het |
Jph1 |
C |
A |
1: 17,074,507 (GRCm39) |
E504* |
probably null |
Het |
Kif2b |
G |
T |
11: 91,466,420 (GRCm39) |
T621K |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,556,268 (GRCm39) |
|
probably benign |
Het |
Leprotl1 |
A |
G |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
Lpar3 |
C |
T |
3: 145,946,348 (GRCm39) |
R9C |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,131,014 (GRCm39) |
E372G |
probably damaging |
Het |
Map2 |
C |
A |
1: 66,419,927 (GRCm39) |
T86K |
probably damaging |
Het |
Map7 |
A |
G |
10: 20,149,629 (GRCm39) |
|
probably null |
Het |
Mdn1 |
T |
C |
4: 32,701,713 (GRCm39) |
V1482A |
probably benign |
Het |
Mks1 |
G |
A |
11: 87,747,777 (GRCm39) |
|
probably benign |
Het |
Morf4l1 |
T |
G |
9: 89,984,403 (GRCm39) |
K102N |
probably damaging |
Het |
Mtg1 |
G |
A |
7: 139,729,665 (GRCm39) |
V252M |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,225,427 (GRCm39) |
D264V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,077,334 (GRCm39) |
Y823C |
possibly damaging |
Het |
Myoz1 |
A |
T |
14: 20,701,252 (GRCm39) |
S112R |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,150,445 (GRCm39) |
V860A |
probably benign |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Npffr1 |
T |
C |
10: 61,450,010 (GRCm39) |
F95L |
possibly damaging |
Het |
Or51f1e |
G |
T |
7: 102,747,641 (GRCm39) |
R231L |
probably benign |
Het |
Or8b9 |
T |
C |
9: 37,766,492 (GRCm39) |
I126T |
probably damaging |
Het |
Orc4 |
A |
C |
2: 48,822,622 (GRCm39) |
|
probably benign |
Het |
P3h3 |
A |
C |
6: 124,822,476 (GRCm39) |
I565R |
probably damaging |
Het |
Pak4 |
T |
C |
7: 28,259,202 (GRCm39) |
D552G |
probably benign |
Het |
Pcdhb4 |
G |
T |
18: 37,442,423 (GRCm39) |
|
probably null |
Het |
Pdcd4 |
G |
T |
19: 53,917,525 (GRCm39) |
R454L |
probably damaging |
Het |
Phf8-ps |
T |
C |
17: 33,284,263 (GRCm39) |
I846M |
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,771,231 (GRCm39) |
I1116T |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,555,586 (GRCm39) |
|
probably benign |
Het |
Pmpca |
T |
C |
2: 26,283,230 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
T |
A |
2: 24,887,252 (GRCm39) |
I32N |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,384,775 (GRCm39) |
K718E |
probably damaging |
Het |
Racgap1 |
C |
T |
15: 99,524,411 (GRCm39) |
A359T |
probably benign |
Het |
Rgs3 |
G |
A |
4: 62,523,798 (GRCm39) |
|
probably null |
Het |
Rhpn1 |
A |
G |
15: 75,583,503 (GRCm39) |
E356G |
probably damaging |
Het |
Rps6ka5 |
T |
C |
12: 100,540,697 (GRCm39) |
H488R |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,632,396 (GRCm39) |
|
probably null |
Het |
Sema4f |
A |
T |
6: 82,912,948 (GRCm39) |
|
probably benign |
Het |
Serpina1f |
A |
G |
12: 103,660,094 (GRCm39) |
S63P |
probably damaging |
Het |
Slc9a3 |
T |
C |
13: 74,307,365 (GRCm39) |
W386R |
probably damaging |
Het |
Slc9b1 |
A |
C |
3: 135,100,651 (GRCm39) |
L465F |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,241,017 (GRCm39) |
V165A |
possibly damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tinagl1 |
G |
T |
4: 130,067,816 (GRCm39) |
D59E |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,443,302 (GRCm39) |
Y354H |
probably damaging |
Het |
Trappc9 |
C |
T |
15: 72,461,956 (GRCm39) |
G1103D |
probably damaging |
Het |
Unc79 |
A |
T |
12: 102,957,687 (GRCm39) |
D34V |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,560,645 (GRCm39) |
L791P |
probably damaging |
Het |
Unc93a2 |
A |
G |
17: 7,641,926 (GRCm39) |
L174P |
probably damaging |
Het |
Xpo7 |
G |
T |
14: 70,903,537 (GRCm39) |
|
probably benign |
Het |
Zbtb1 |
T |
A |
12: 76,432,113 (GRCm39) |
I33N |
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 |
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 |
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'- TCTCTCTACCATGCACTGGATGGG -3'
(R):5'- GCGACATTGCACAGATGAAGCC -3'
Sequencing Primer
(F):5'- TGCTCCCCAAATTCTGGAGG -3'
(R):5'- AGATGAAGCCTCATGCCTG -3'
|
Posted On |
2013-11-08 |