Incidental Mutation 'R5476:Mroh4'
| ID |
501100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh4
|
| Ensembl Gene |
ENSMUSG00000022603 |
| Gene Name |
maestro heat-like repeat family member 4 |
| Synonyms |
1700016M24Rik |
| MMRRC Submission |
043037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5476 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
74477878-74508202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74483510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 609
(I609N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023271]
[ENSMUST00000137963]
|
| AlphaFold |
G3X8W1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023271
AA Change: I609N
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000023271
Gene: ENSMUSG00000022603
AA Change: I609N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
591 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
709 |
852 |
3e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137963
AA Change: I540N
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117011
Gene: ENSMUSG00000022603
AA Change: I540N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
522 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
640 |
783 |
3e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177179
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
| Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,642,981 (GRCm39) |
D329G |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,180,392 (GRCm39) |
E917G |
probably damaging |
Het |
| Cpox |
G |
C |
16: 58,499,088 (GRCm39) |
V434L |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
| Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
| Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
| Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
| Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,671,466 (GRCm39) |
M476T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,105,666 (GRCm39) |
S623P |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
| Spata2 |
A |
T |
2: 167,326,079 (GRCm39) |
S247T |
probably damaging |
Het |
| Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
| Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
| Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zfp157 |
T |
G |
5: 138,455,443 (GRCm39) |
V547G |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,079 (GRCm39) |
C551S |
probably damaging |
Het |
|
| Other mutations in Mroh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01645:Mroh4
|
APN |
15 |
74,483,207 (GRCm39) |
splice site |
probably benign |
|
|
IGL02370:Mroh4
|
APN |
15 |
74,497,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02598:Mroh4
|
APN |
15 |
74,483,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02644:Mroh4
|
APN |
15 |
74,482,224 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02666:Mroh4
|
APN |
15 |
74,481,624 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02723:Mroh4
|
APN |
15 |
74,480,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL02724:Mroh4
|
APN |
15 |
74,478,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03000:Mroh4
|
APN |
15 |
74,487,963 (GRCm39) |
missense |
probably benign |
|
|
IGL03103:Mroh4
|
APN |
15 |
74,488,008 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03194:Mroh4
|
APN |
15 |
74,483,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Mroh4
|
UTSW |
15 |
74,480,086 (GRCm39) |
splice site |
probably benign |
|
|
R0042:Mroh4
|
UTSW |
15 |
74,482,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0042:Mroh4
|
UTSW |
15 |
74,482,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0294:Mroh4
|
UTSW |
15 |
74,477,998 (GRCm39) |
missense |
probably benign |
|
|
R0346:Mroh4
|
UTSW |
15 |
74,486,141 (GRCm39) |
splice site |
probably benign |
|
|
R0545:Mroh4
|
UTSW |
15 |
74,497,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0688:Mroh4
|
UTSW |
15 |
74,478,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1838:Mroh4
|
UTSW |
15 |
74,487,962 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2037:Mroh4
|
UTSW |
15 |
74,481,610 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4725:Mroh4
|
UTSW |
15 |
74,487,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4786:Mroh4
|
UTSW |
15 |
74,482,083 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4798:Mroh4
|
UTSW |
15 |
74,498,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Mroh4
|
UTSW |
15 |
74,483,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5065:Mroh4
|
UTSW |
15 |
74,500,119 (GRCm39) |
splice site |
probably null |
|
|
R5509:Mroh4
|
UTSW |
15 |
74,478,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5527:Mroh4
|
UTSW |
15 |
74,486,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5662:Mroh4
|
UTSW |
15 |
74,497,277 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5818:Mroh4
|
UTSW |
15 |
74,483,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5861:Mroh4
|
UTSW |
15 |
74,478,456 (GRCm39) |
intron |
probably benign |
|
|
R5886:Mroh4
|
UTSW |
15 |
74,478,296 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5935:Mroh4
|
UTSW |
15 |
74,493,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Mroh4
|
UTSW |
15 |
74,497,321 (GRCm39) |
nonsense |
probably null |
|
|
R6658:Mroh4
|
UTSW |
15 |
74,492,978 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6689:Mroh4
|
UTSW |
15 |
74,483,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6739:Mroh4
|
UTSW |
15 |
74,481,568 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6888:Mroh4
|
UTSW |
15 |
74,485,098 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7088:Mroh4
|
UTSW |
15 |
74,497,993 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7260:Mroh4
|
UTSW |
15 |
74,479,978 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7365:Mroh4
|
UTSW |
15 |
74,482,220 (GRCm39) |
nonsense |
probably null |
|
|
R7735:Mroh4
|
UTSW |
15 |
74,497,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7763:Mroh4
|
UTSW |
15 |
74,496,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7945:Mroh4
|
UTSW |
15 |
74,496,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8090:Mroh4
|
UTSW |
15 |
74,496,550 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8242:Mroh4
|
UTSW |
15 |
74,488,157 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8978:Mroh4
|
UTSW |
15 |
74,499,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9004:Mroh4
|
UTSW |
15 |
74,486,171 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9083:Mroh4
|
UTSW |
15 |
74,498,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Mroh4
|
UTSW |
15 |
74,477,961 (GRCm39) |
makesense |
probably null |
|
|
R9248:Mroh4
|
UTSW |
15 |
74,485,167 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9320:Mroh4
|
UTSW |
15 |
74,483,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Mroh4
|
UTSW |
15 |
74,482,760 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9512:Mroh4
|
UTSW |
15 |
74,485,095 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Mroh4
|
UTSW |
15 |
74,499,851 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1177:Mroh4
|
UTSW |
15 |
74,499,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCAGGATCCAGTGTATG -3'
(R):5'- TTGCACTCACTGAGCATGC -3'
Sequencing Primer
(F):5'- GCTGGGCTGCCATTCTAC -3'
(R):5'- ACTCACTGAGCATGCTGATG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation