Incidental Mutation 'R3833:Mroh1'
ID |
275504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
040888-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R3833 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76264638-76337239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76285819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 71
(T71I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000160728]
[ENSMUST00000161305]
[ENSMUST00000162319]
|
AlphaFold |
E0CZ22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092595
AA Change: T71I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000090256 Gene: ENSMUSG00000022558 AA Change: T71I
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: T71I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000094115 Gene: ENSMUSG00000022558 AA Change: T71I
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: T71I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000124811 Gene: ENSMUSG00000022558 AA Change: T71I
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 |
probably benign
Transcript: ENSMUST00000160728
AA Change: T71I
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000124321 Gene: ENSMUSG00000022558 AA Change: T71I
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
4 |
79 |
3e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160986
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161305
AA Change: T71I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
Validation Efficiency |
97% (70/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
G |
A |
9: 101,820,062 (GRCm39) |
G161S |
probably damaging |
Het |
Acp7 |
T |
C |
7: 28,314,519 (GRCm39) |
D282G |
probably benign |
Het |
Atp10d |
T |
A |
5: 72,396,568 (GRCm39) |
C258S |
possibly damaging |
Het |
Atp6ap1 |
T |
C |
X: 73,340,813 (GRCm39) |
I10T |
possibly damaging |
Het |
Atp6v0d2 |
T |
G |
4: 19,922,395 (GRCm39) |
N35H |
probably damaging |
Het |
Bcat1 |
T |
A |
6: 144,955,834 (GRCm39) |
D349V |
probably damaging |
Het |
Cacnb2 |
A |
T |
2: 14,986,236 (GRCm39) |
I338F |
probably damaging |
Het |
Ccn6 |
T |
C |
10: 39,030,945 (GRCm39) |
K193E |
probably benign |
Het |
Ccr1 |
T |
C |
9: 123,764,324 (GRCm39) |
T69A |
possibly damaging |
Het |
Cenpe |
T |
G |
3: 134,928,083 (GRCm39) |
|
probably benign |
Het |
Cps1 |
G |
A |
1: 67,178,946 (GRCm39) |
G53R |
probably damaging |
Het |
Cstb |
T |
C |
10: 78,263,184 (GRCm39) |
F70L |
probably benign |
Het |
Cyb5d2 |
G |
T |
11: 72,686,349 (GRCm39) |
S80R |
possibly damaging |
Het |
Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
Cyp8b1 |
C |
A |
9: 121,745,109 (GRCm39) |
Q74H |
probably benign |
Het |
Dennd2a |
G |
A |
6: 39,483,651 (GRCm39) |
P403L |
probably damaging |
Het |
Dennd2a |
G |
T |
6: 39,483,657 (GRCm39) |
S401Y |
probably damaging |
Het |
Dnaaf5 |
T |
C |
5: 139,167,320 (GRCm39) |
V447A |
possibly damaging |
Het |
Dpp9 |
A |
T |
17: 56,506,113 (GRCm39) |
F429I |
possibly damaging |
Het |
Gcn1 |
A |
T |
5: 115,730,191 (GRCm39) |
Q835L |
probably benign |
Het |
Gtf2b |
T |
A |
3: 142,477,153 (GRCm39) |
D8E |
probably benign |
Het |
Hao1 |
A |
T |
2: 134,364,925 (GRCm39) |
V234D |
probably damaging |
Het |
Hephl1 |
T |
C |
9: 14,981,044 (GRCm39) |
E796G |
probably damaging |
Het |
Herc4 |
A |
G |
10: 63,081,739 (GRCm39) |
I21V |
probably benign |
Het |
Htt |
T |
A |
5: 34,979,062 (GRCm39) |
V815D |
probably benign |
Het |
Iglv2 |
A |
T |
16: 19,079,593 (GRCm39) |
M1K |
probably null |
Het |
Igsf8 |
G |
T |
1: 172,145,837 (GRCm39) |
A315S |
probably benign |
Het |
Il1a |
T |
C |
2: 129,148,599 (GRCm39) |
D37G |
possibly damaging |
Het |
Iqcb1 |
T |
A |
16: 36,652,276 (GRCm39) |
C62* |
probably null |
Het |
Itgad |
A |
T |
7: 127,785,405 (GRCm39) |
T381S |
probably damaging |
Het |
Itpkb |
T |
C |
1: 180,161,260 (GRCm39) |
V462A |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,860,259 (GRCm39) |
R199* |
probably null |
Het |
Kif24 |
G |
T |
4: 41,395,064 (GRCm39) |
A603D |
probably damaging |
Het |
Kif26b |
GAAA |
GAA |
1: 178,744,181 (GRCm39) |
|
probably null |
Het |
Klrc3 |
A |
G |
6: 129,620,181 (GRCm39) |
L24P |
probably damaging |
Het |
Lmnb1 |
A |
C |
18: 56,861,598 (GRCm39) |
D163A |
probably benign |
Het |
Lrrc9 |
T |
C |
12: 72,529,765 (GRCm39) |
L912P |
probably damaging |
Het |
Mageh1 |
A |
T |
X: 151,820,004 (GRCm39) |
W111R |
probably damaging |
Het |
Mapk7 |
A |
G |
11: 61,380,680 (GRCm39) |
S641P |
possibly damaging |
Het |
Mapt |
A |
T |
11: 104,177,961 (GRCm39) |
Q38L |
possibly damaging |
Het |
Med12 |
C |
A |
X: 100,339,498 (GRCm39) |
P2037Q |
possibly damaging |
Het |
Med22 |
A |
G |
2: 26,800,379 (GRCm39) |
S17P |
probably damaging |
Het |
Mep1b |
C |
T |
18: 21,219,296 (GRCm39) |
T150I |
possibly damaging |
Het |
Nap1l3 |
A |
G |
X: 121,305,995 (GRCm39) |
V241A |
possibly damaging |
Het |
Pcdhga6 |
A |
T |
18: 37,841,479 (GRCm39) |
N400Y |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,359,762 (GRCm39) |
S278P |
probably damaging |
Het |
Pgap1 |
A |
G |
1: 54,596,624 (GRCm39) |
M39T |
probably damaging |
Het |
Pgc |
C |
A |
17: 48,040,236 (GRCm39) |
F93L |
probably null |
Het |
Phf14 |
A |
G |
6: 11,933,873 (GRCm39) |
|
probably null |
Het |
Piezo2 |
A |
G |
18: 63,214,733 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,616,397 (GRCm39) |
D166G |
probably benign |
Het |
Ppp1r12c |
T |
A |
7: 4,485,785 (GRCm39) |
|
probably benign |
Het |
Pus3 |
G |
C |
9: 35,477,874 (GRCm39) |
G369R |
probably benign |
Het |
Rhbdf2 |
T |
A |
11: 116,495,250 (GRCm39) |
D251V |
probably damaging |
Het |
Rsad1 |
A |
G |
11: 94,434,130 (GRCm39) |
V366A |
probably benign |
Het |
S100a10 |
T |
C |
3: 93,471,680 (GRCm39) |
V88A |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,406,078 (GRCm39) |
C121R |
probably damaging |
Het |
Scn7a |
A |
G |
2: 66,528,028 (GRCm39) |
S821P |
probably damaging |
Het |
Sco1 |
T |
C |
11: 66,944,605 (GRCm39) |
V76A |
probably damaging |
Het |
Sdsl |
C |
A |
5: 120,601,183 (GRCm39) |
A30S |
probably benign |
Het |
Slc26a6 |
C |
T |
9: 108,733,117 (GRCm39) |
T32I |
possibly damaging |
Het |
Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
Snd1 |
G |
T |
6: 28,531,403 (GRCm39) |
|
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,718,221 (GRCm39) |
T201A |
probably damaging |
Het |
Tekt1 |
T |
C |
11: 72,245,645 (GRCm39) |
N170S |
probably benign |
Het |
Thsd1 |
T |
G |
8: 22,733,132 (GRCm39) |
S60A |
possibly damaging |
Het |
Tmem121b |
C |
T |
6: 120,469,841 (GRCm39) |
G292E |
probably damaging |
Het |
Trim63 |
A |
G |
4: 134,048,507 (GRCm39) |
N172S |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,219,209 (GRCm39) |
|
probably null |
Het |
Zdhhc16 |
T |
A |
19: 41,926,553 (GRCm39) |
|
probably null |
Het |
Zfp1010 |
T |
C |
2: 176,956,998 (GRCm39) |
S167G |
possibly damaging |
Het |
Zfp709 |
G |
A |
8: 72,642,906 (GRCm39) |
V112M |
probably benign |
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 |
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'- CCCTTCTAAAGACACACGGG -3'
(R):5'- AAGTGGTCAACAGGTCCGAC -3'
Sequencing Primer
(F):5'- TAAAGACACACGGGCGCTTC -3'
(R):5'- GTCAACAGGTCCGACTCCAG -3'
|
Posted On |
2015-04-06 |