Incidental Mutation 'R1595:Mroh1'
ID |
175757 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mroh1
|
Ensembl Gene |
ENSMUSG00000022558 |
Gene Name |
maestro heat-like repeat family member 1 |
Synonyms |
Heatr7a, D330001F17Rik |
MMRRC Submission |
039632-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R1595 (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 C
at 76317730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[ENSMUST00000159218]
[ENSMUST00000160631]
[ENSMUST00000161305]
|
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: 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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183412
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
Validation Efficiency |
97% (77/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
C |
T |
1: 75,153,944 (GRCm39) |
|
probably null |
Het |
Abcc10 |
G |
T |
17: 46,633,164 (GRCm39) |
P556H |
probably damaging |
Het |
Abcc9 |
A |
T |
6: 142,578,821 (GRCm39) |
D914E |
probably benign |
Het |
Adgrf4 |
A |
G |
17: 42,978,764 (GRCm39) |
V193A |
probably benign |
Het |
Adm |
A |
T |
7: 110,228,298 (GRCm39) |
T160S |
probably damaging |
Het |
Ammecr1l |
T |
C |
18: 31,905,173 (GRCm39) |
|
probably null |
Het |
Angpt2 |
T |
C |
8: 18,748,129 (GRCm39) |
D377G |
probably damaging |
Het |
Ankfn1 |
A |
G |
11: 89,313,593 (GRCm39) |
|
probably null |
Het |
Arhgap30 |
T |
G |
1: 171,235,909 (GRCm39) |
M761R |
probably benign |
Het |
Asb4 |
T |
G |
6: 5,390,692 (GRCm39) |
N28K |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,444,389 (GRCm39) |
D696E |
probably benign |
Het |
Cd200 |
G |
A |
16: 45,215,214 (GRCm39) |
T123I |
probably benign |
Het |
Cfap70 |
A |
G |
14: 20,497,604 (GRCm39) |
V50A |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,701,987 (GRCm39) |
|
probably null |
Het |
Chgb |
A |
C |
2: 132,635,657 (GRCm39) |
D533A |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,509,536 (GRCm39) |
Y3041H |
probably damaging |
Het |
Crot |
T |
C |
5: 9,024,186 (GRCm39) |
N337D |
probably benign |
Het |
Csad |
G |
A |
15: 102,086,217 (GRCm39) |
A51V |
probably damaging |
Het |
Cstdc7 |
T |
C |
18: 42,306,454 (GRCm39) |
M7T |
probably benign |
Het |
Cyp2b9 |
A |
G |
7: 25,900,332 (GRCm39) |
Y380C |
possibly damaging |
Het |
Dpysl2 |
G |
T |
14: 67,052,952 (GRCm39) |
A299E |
probably damaging |
Het |
Efcc1 |
A |
G |
6: 87,708,440 (GRCm39) |
E189G |
probably damaging |
Het |
Egfr |
T |
C |
11: 16,856,847 (GRCm39) |
I940T |
probably damaging |
Het |
Etnk2 |
T |
G |
1: 133,300,917 (GRCm39) |
L228R |
possibly damaging |
Het |
Fitm2 |
A |
G |
2: 163,311,610 (GRCm39) |
I201T |
probably benign |
Het |
Foxo1 |
A |
T |
3: 52,253,375 (GRCm39) |
M513L |
probably benign |
Het |
Galnt16 |
A |
T |
12: 80,637,410 (GRCm39) |
K379I |
probably damaging |
Het |
Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
Gtf2a1 |
T |
A |
12: 91,556,323 (GRCm39) |
N6Y |
probably damaging |
Het |
Kcnc1 |
G |
A |
7: 46,077,010 (GRCm39) |
V271M |
probably benign |
Het |
Klhdc8b |
T |
A |
9: 108,328,362 (GRCm39) |
D30V |
probably damaging |
Het |
Lrrc7 |
G |
A |
3: 157,882,914 (GRCm39) |
Q448* |
probably null |
Het |
Med29 |
T |
C |
7: 28,091,928 (GRCm39) |
D54G |
probably damaging |
Het |
Mfn2 |
T |
C |
4: 147,979,153 (GRCm39) |
T60A |
probably benign |
Het |
Mxd1 |
A |
T |
6: 86,628,453 (GRCm39) |
V149E |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,435,602 (GRCm39) |
Y974N |
probably damaging |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Nhsl1 |
G |
T |
10: 18,402,096 (GRCm39) |
K1107N |
probably damaging |
Het |
Nlrc3 |
T |
C |
16: 3,783,166 (GRCm39) |
E81G |
probably benign |
Het |
Or10al3 |
G |
T |
17: 38,012,004 (GRCm39) |
A148S |
probably benign |
Het |
Or9e1 |
G |
T |
11: 58,732,478 (GRCm39) |
M179I |
probably benign |
Het |
Osbpl5 |
C |
T |
7: 143,256,955 (GRCm39) |
V392M |
possibly damaging |
Het |
Pcdhb22 |
T |
A |
18: 37,653,506 (GRCm39) |
V401E |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,762,672 (GRCm39) |
H1444Q |
probably damaging |
Het |
Pdlim2 |
A |
G |
14: 70,402,193 (GRCm39) |
Y308H |
probably damaging |
Het |
Phf14 |
T |
G |
6: 11,988,752 (GRCm39) |
L664R |
possibly damaging |
Het |
Phkb |
T |
C |
8: 86,753,182 (GRCm39) |
|
probably benign |
Het |
Ptchd3 |
T |
A |
11: 121,721,420 (GRCm39) |
F98I |
probably damaging |
Het |
Ptprt |
C |
T |
2: 161,652,469 (GRCm39) |
|
probably null |
Het |
Rbp3 |
A |
T |
14: 33,678,155 (GRCm39) |
H701L |
possibly damaging |
Het |
Rgl1 |
T |
C |
1: 152,550,774 (GRCm39) |
|
probably benign |
Het |
Satb1 |
A |
T |
17: 52,089,729 (GRCm39) |
S373T |
possibly damaging |
Het |
Scn3a |
T |
A |
2: 65,329,323 (GRCm39) |
Y769F |
probably damaging |
Het |
Senp7 |
A |
G |
16: 56,005,131 (GRCm39) |
I922V |
probably damaging |
Het |
Serpina3g |
A |
G |
12: 104,205,531 (GRCm39) |
E90G |
probably benign |
Het |
Sh3rf2 |
C |
T |
18: 42,244,353 (GRCm39) |
T273I |
probably damaging |
Het |
Slc15a3 |
A |
G |
19: 10,831,675 (GRCm39) |
T350A |
probably benign |
Het |
Socs5 |
T |
C |
17: 87,441,623 (GRCm39) |
C188R |
probably damaging |
Het |
Tacr1 |
A |
G |
6: 82,380,723 (GRCm39) |
T45A |
probably benign |
Het |
Th |
A |
G |
7: 142,450,745 (GRCm39) |
V117A |
probably benign |
Het |
Thpo |
C |
A |
16: 20,547,206 (GRCm39) |
D81Y |
probably damaging |
Het |
Tmem229b-ps |
A |
G |
10: 53,351,385 (GRCm39) |
|
noncoding transcript |
Het |
Trpc4 |
A |
G |
3: 54,223,236 (GRCm39) |
E724G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,576,977 (GRCm39) |
T24639A |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 120,873,904 (GRCm39) |
S1176P |
probably damaging |
Het |
Urgcp |
T |
C |
11: 5,667,447 (GRCm39) |
D297G |
probably damaging |
Het |
Vmn1r168 |
G |
A |
7: 23,240,620 (GRCm39) |
G159D |
probably damaging |
Het |
Vmn1r67 |
A |
T |
7: 10,181,597 (GRCm39) |
N226I |
probably benign |
Het |
Vmn2r27 |
T |
C |
6: 124,208,574 (GRCm39) |
E57G |
probably benign |
Het |
Zdhhc14 |
G |
T |
17: 5,543,831 (GRCm39) |
R37L |
probably benign |
Het |
Zfp512b |
G |
A |
2: 181,230,229 (GRCm39) |
T499I |
probably damaging |
Het |
Zmym2 |
A |
T |
14: 57,158,187 (GRCm39) |
K575N |
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 |
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'- TTCAAGAAAGGGCGTGAACTCCAG -3'
(R):5'- AGGGCACCAATAAGTGTCTCCCTG -3'
Sequencing Primer
(F):5'- CGTGAACTCCAGTTTCTGAGG -3'
(R):5'- ATGGATGGTCCAGCTACCATTAC -3'
|
Posted On |
2014-04-24 |