Incidental Mutation 'R5450:Mroh1'
| ID |
429302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh1
|
| Ensembl Gene |
ENSMUSG00000022558 |
| Gene Name |
maestro heat-like repeat family member 1 |
| Synonyms |
Heatr7a, D330001F17Rik |
| MMRRC Submission |
043015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5450 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76380261-76453038 bp(+) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 76432347 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092595]
[ENSMUST00000096385]
[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 |
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,426,349 (GRCm38) |
V173M |
probably damaging |
Het |
| AF067063 |
A |
T |
13: 119,828,363 (GRCm38) |
V99E |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,807,324 (GRCm38) |
|
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,551,464 (GRCm38) |
N144S |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,383,186 (GRCm38) |
M1454K |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,446,068 (GRCm38) |
H138L |
possibly damaging |
Het |
| Ccdc129 |
T |
A |
6: 55,968,811 (GRCm38) |
|
probably null |
Het |
| Cd200r2 |
T |
A |
16: 44,909,571 (GRCm38) |
D159E |
probably benign |
Het |
| Cd79a |
G |
T |
7: 24,899,262 (GRCm38) |
G79C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,978,208 (GRCm38) |
H38R |
possibly damaging |
Het |
| Cers1 |
T |
C |
8: 70,318,297 (GRCm38) |
L119P |
probably damaging |
Het |
| Ces1f |
C |
A |
8: 93,265,795 (GRCm38) |
V343L |
probably benign |
Het |
| Ces3a |
G |
A |
8: 105,057,918 (GRCm38) |
G511S |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,284,252 (GRCm38) |
C98R |
probably benign |
Het |
| Cyp2j11 |
C |
A |
4: 96,339,876 (GRCm38) |
V169L |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,528,886 (GRCm38) |
T523A |
probably benign |
Het |
| Ddx31 |
T |
C |
2: 28,886,969 (GRCm38) |
S567P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Dsg1b |
A |
C |
18: 20,409,064 (GRCm38) |
H876P |
probably damaging |
Het |
| Edrf1 |
G |
T |
7: 133,658,610 (GRCm38) |
M83I |
probably damaging |
Het |
| Eno4 |
T |
C |
19: 58,960,247 (GRCm38) |
F393S |
possibly damaging |
Het |
| Eral1 |
C |
T |
11: 78,078,357 (GRCm38) |
D106N |
probably benign |
Het |
| Esp18 |
G |
T |
17: 39,408,179 (GRCm38) |
R23M |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,539,801 (GRCm38) |
V674I |
probably benign |
Het |
| Fbxw13 |
A |
C |
9: 109,184,157 (GRCm38) |
N154K |
probably benign |
Het |
| Gtpbp6 |
A |
G |
5: 110,107,125 (GRCm38) |
V130A |
probably damaging |
Het |
| Hc |
T |
C |
2: 35,013,038 (GRCm38) |
D1067G |
possibly damaging |
Het |
| Ighg1 |
A |
T |
12: 113,330,506 (GRCm38) |
S6T |
unknown |
Het |
| Ikzf3 |
C |
T |
11: 98,467,086 (GRCm38) |
R475H |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,842,930 (GRCm38) |
L311* |
probably null |
Het |
| Kmt2d |
C |
A |
15: 98,855,086 (GRCm38) |
E184D |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,071,061 (GRCm38) |
I314F |
probably damaging |
Het |
| Maml2 |
A |
C |
9: 13,706,467 (GRCm38) |
S370R |
probably damaging |
Het |
| Mx1 |
A |
T |
16: 97,454,147 (GRCm38) |
Y235* |
probably null |
Het |
| Olfr1269 |
A |
G |
2: 90,118,669 (GRCm38) |
*310Q |
probably null |
Het |
| Pamr1 |
T |
G |
2: 102,639,317 (GRCm38) |
Y403D |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 89,068,959 (GRCm38) |
E551G |
possibly damaging |
Het |
| Patl2 |
A |
G |
2: 122,125,281 (GRCm38) |
V258A |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,196,842 (GRCm38) |
F255L |
probably benign |
Het |
| Prpf40a |
G |
T |
2: 53,156,926 (GRCm38) |
T266N |
possibly damaging |
Het |
| Psg18 |
T |
A |
7: 18,353,425 (GRCm38) |
I103F |
probably benign |
Het |
| Rpl39-ps |
A |
G |
15: 102,635,148 (GRCm38) |
|
noncoding transcript |
Het |
| Rps6kb1 |
A |
T |
11: 86,532,837 (GRCm38) |
F106I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Sardh |
G |
T |
2: 27,239,698 (GRCm38) |
T245K |
possibly damaging |
Het |
| Shprh |
T |
G |
10: 11,212,330 (GRCm38) |
I1619S |
possibly damaging |
Het |
| Skint1 |
G |
A |
4: 112,025,532 (GRCm38) |
V258I |
probably benign |
Het |
| Slc27a5 |
T |
C |
7: 12,994,942 (GRCm38) |
D331G |
probably benign |
Het |
| Slc29a2 |
A |
G |
19: 5,029,275 (GRCm38) |
I309V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,821,172 (GRCm38) |
V130I |
possibly damaging |
Het |
| Slc4a3 |
C |
A |
1: 75,552,656 (GRCm38) |
A531D |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 45,261,248 (GRCm38) |
T399I |
probably benign |
Het |
| Slitrk6 |
T |
A |
14: 110,750,097 (GRCm38) |
H726L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,210,712 (GRCm38) |
K309R |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,373,219 (GRCm38) |
C4S |
possibly damaging |
Het |
| Sulf1 |
T |
C |
1: 12,796,907 (GRCm38) |
V105A |
probably benign |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm38) |
V208I |
probably benign |
Het |
| Vmn1r47 |
T |
C |
6: 90,022,213 (GRCm38) |
L109P |
probably damaging |
Het |
| Vmn1r73 |
C |
A |
7: 11,756,449 (GRCm38) |
Q65K |
possibly damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,930,684 (GRCm38) |
Y166C |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,126,590 (GRCm38) |
T504A |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,812,164 (GRCm38) |
A300E |
probably benign |
Het |
| Yars |
A |
G |
4: 129,197,246 (GRCm38) |
E149G |
possibly damaging |
Het |
| Zbtb18 |
T |
C |
1: 177,447,205 (GRCm38) |
F35L |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,229,585 (GRCm38) |
Y418C |
probably damaging |
Het |
|
| Other mutations in Mroh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Mroh1
|
APN |
15 |
76,432,288 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02141:Mroh1
|
APN |
15 |
76,446,599 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02146:Mroh1
|
APN |
15 |
76,434,679 (GRCm38) |
splice site |
probably benign |
|
|
IGL02205:Mroh1
|
APN |
15 |
76,437,239 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02261:Mroh1
|
APN |
15 |
76,429,160 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02818:Mroh1
|
APN |
15 |
76,432,401 (GRCm38) |
splice site |
probably null |
|
|
IGL02949:Mroh1
|
APN |
15 |
76,408,968 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02951:Mroh1
|
APN |
15 |
76,427,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03154:Mroh1
|
APN |
15 |
76,452,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02799:Mroh1
|
UTSW |
15 |
76,392,461 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0068:Mroh1
|
UTSW |
15 |
76,446,692 (GRCm38) |
splice site |
probably benign |
|
|
R0068:Mroh1
|
UTSW |
15 |
76,446,692 (GRCm38) |
splice site |
probably benign |
|
|
R0076:Mroh1
|
UTSW |
15 |
76,451,140 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0180:Mroh1
|
UTSW |
15 |
76,428,250 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0315:Mroh1
|
UTSW |
15 |
76,427,600 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0350:Mroh1
|
UTSW |
15 |
76,432,249 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0399:Mroh1
|
UTSW |
15 |
76,452,099 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0835:Mroh1
|
UTSW |
15 |
76,451,883 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0893:Mroh1
|
UTSW |
15 |
76,408,938 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1109:Mroh1
|
UTSW |
15 |
76,446,509 (GRCm38) |
splice site |
probably benign |
|
|
R1527:Mroh1
|
UTSW |
15 |
76,452,263 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1595:Mroh1
|
UTSW |
15 |
76,433,530 (GRCm38) |
splice site |
probably benign |
|
|
R1900:Mroh1
|
UTSW |
15 |
76,433,385 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1901:Mroh1
|
UTSW |
15 |
76,436,049 (GRCm38) |
missense |
probably benign |
|
|
R2223:Mroh1
|
UTSW |
15 |
76,408,045 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2415:Mroh1
|
UTSW |
15 |
76,421,211 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3113:Mroh1
|
UTSW |
15 |
76,408,536 (GRCm38) |
splice site |
probably benign |
|
|
R3437:Mroh1
|
UTSW |
15 |
76,433,608 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3618:Mroh1
|
UTSW |
15 |
76,452,346 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R3833:Mroh1
|
UTSW |
15 |
76,401,619 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4073:Mroh1
|
UTSW |
15 |
76,407,985 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4156:Mroh1
|
UTSW |
15 |
76,402,126 (GRCm38) |
splice site |
probably null |
|
|
R4276:Mroh1
|
UTSW |
15 |
76,393,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4745:Mroh1
|
UTSW |
15 |
76,408,530 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5574:Mroh1
|
UTSW |
15 |
76,433,931 (GRCm38) |
missense |
probably benign |
|
|
R5673:Mroh1
|
UTSW |
15 |
76,430,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5970:Mroh1
|
UTSW |
15 |
76,451,491 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5993:Mroh1
|
UTSW |
15 |
76,446,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6008:Mroh1
|
UTSW |
15 |
76,451,357 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6082:Mroh1
|
UTSW |
15 |
76,430,223 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6302:Mroh1
|
UTSW |
15 |
76,436,119 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7030:Mroh1
|
UTSW |
15 |
76,437,317 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7098:Mroh1
|
UTSW |
15 |
76,408,457 (GRCm38) |
nonsense |
probably null |
|
|
R7334:Mroh1
|
UTSW |
15 |
76,427,638 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7337:Mroh1
|
UTSW |
15 |
76,451,476 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7352:Mroh1
|
UTSW |
15 |
76,451,474 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7446:Mroh1
|
UTSW |
15 |
76,452,272 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7453:Mroh1
|
UTSW |
15 |
76,433,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7669:Mroh1
|
UTSW |
15 |
76,451,848 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7753:Mroh1
|
UTSW |
15 |
76,433,275 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7860:Mroh1
|
UTSW |
15 |
76,447,332 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7990:Mroh1
|
UTSW |
15 |
76,452,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8140:Mroh1
|
UTSW |
15 |
76,433,873 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8325:Mroh1
|
UTSW |
15 |
76,432,215 (GRCm38) |
frame shift |
probably null |
|
|
R8334:Mroh1
|
UTSW |
15 |
76,446,556 (GRCm38) |
missense |
probably benign |
|
|
R8529:Mroh1
|
UTSW |
15 |
76,427,632 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8544:Mroh1
|
UTSW |
15 |
76,443,358 (GRCm38) |
nonsense |
probably null |
|
|
R8688:Mroh1
|
UTSW |
15 |
76,428,350 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8769:Mroh1
|
UTSW |
15 |
76,412,926 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8782:Mroh1
|
UTSW |
15 |
76,414,296 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8887:Mroh1
|
UTSW |
15 |
76,447,274 (GRCm38) |
missense |
probably benign |
0.43 |
|
R8934:Mroh1
|
UTSW |
15 |
76,450,186 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9254:Mroh1
|
UTSW |
15 |
76,408,015 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9400:Mroh1
|
UTSW |
15 |
76,451,893 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9443:Mroh1
|
UTSW |
15 |
76,434,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Mroh1
|
UTSW |
15 |
76,423,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTCTACCTCAGGATCGAAGC -3'
(R):5'- GAGCTGTACTCCACCACACTTC -3'
Sequencing Primer
(F):5'- CTCAGGATCGAAGCGAGCAC -3'
(R):5'- TTCCCCAGGACCACCATGG -3'
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| Posted On |
2016-09-06 |
Incidental Mutation