Incidental Mutation 'R6658:Mroh4'
| ID |
526738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh4
|
| Ensembl Gene |
ENSMUSG00000022603 |
| Gene Name |
maestro heat-like repeat family member 4 |
| Synonyms |
1700016M24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6658 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
74477878-74508202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74492978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 310
(Q310R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023271]
[ENSMUST00000137963]
|
| AlphaFold |
G3X8W1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023271
AA Change: Q310R
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023271
Gene: ENSMUSG00000022603
AA Change: Q310R
| 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: Q241R
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117011
Gene: ENSMUSG00000022603
AA Change: Q241R
| 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: ENSMUST00000176767
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,077,353 (GRCm39) |
N1340S |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Antxr1 |
C |
A |
6: 87,261,291 (GRCm39) |
R167L |
probably damaging |
Het |
| BC107364 |
T |
C |
3: 96,348,026 (GRCm39) |
S88G |
unknown |
Het |
| Cfap100 |
T |
G |
6: 90,390,400 (GRCm39) |
E80A |
probably damaging |
Het |
| Dhx8 |
C |
A |
11: 101,655,748 (GRCm39) |
H1107Q |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,543,213 (GRCm39) |
|
probably null |
Het |
| Dpep2 |
A |
T |
8: 106,716,542 (GRCm39) |
D212E |
probably benign |
Het |
| Dpep3 |
T |
C |
8: 106,705,728 (GRCm39) |
T66A |
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,997,077 (GRCm39) |
M1765I |
probably benign |
Het |
| Gbgt1 |
G |
A |
2: 28,394,998 (GRCm39) |
R212H |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,668,338 (GRCm39) |
S215P |
possibly damaging |
Het |
| Gpr161 |
A |
T |
1: 165,134,136 (GRCm39) |
T133S |
possibly damaging |
Het |
| Grin2c |
G |
T |
11: 115,149,108 (GRCm39) |
S163R |
possibly damaging |
Het |
| Grip2 |
T |
A |
6: 91,763,472 (GRCm39) |
N109Y |
probably damaging |
Het |
| H60c |
G |
A |
10: 3,210,270 (GRCm39) |
T93I |
possibly damaging |
Het |
| Hmgcl |
A |
G |
4: 135,682,962 (GRCm39) |
N138S |
probably damaging |
Het |
| Hoxa3 |
G |
T |
6: 52,147,058 (GRCm39) |
Y398* |
probably null |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,091 (GRCm39) |
N19S |
probably benign |
Het |
| Ikbip |
A |
G |
10: 90,932,181 (GRCm39) |
N275S |
probably benign |
Het |
| Il7 |
T |
A |
3: 7,642,239 (GRCm39) |
T33S |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,796,840 (GRCm39) |
Y1105N |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,148,281 (GRCm39) |
D934G |
possibly damaging |
Het |
| Mtmr14 |
C |
A |
6: 113,242,437 (GRCm39) |
Y22* |
probably null |
Het |
| Muc5b |
G |
T |
7: 141,422,244 (GRCm39) |
|
probably null |
Het |
| Naga |
T |
G |
15: 82,214,975 (GRCm39) |
K328Q |
probably benign |
Het |
| Neo1 |
G |
A |
9: 58,829,132 (GRCm39) |
T589I |
probably benign |
Het |
| Nme5 |
A |
C |
18: 34,711,639 (GRCm39) |
I34S |
probably damaging |
Het |
| Nrip2 |
T |
C |
6: 128,385,199 (GRCm39) |
L210P |
possibly damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,807 (GRCm39) |
D424G |
probably benign |
Het |
| Or12e9 |
T |
C |
2: 87,202,497 (GRCm39) |
V207A |
probably benign |
Het |
| Or1e26 |
G |
A |
11: 73,479,874 (GRCm39) |
S230F |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,311,696 (GRCm39) |
V308E |
probably benign |
Het |
| Pilrb1 |
T |
A |
5: 137,855,789 (GRCm39) |
Y34F |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,845,300 (GRCm39) |
E319D |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,682,929 (GRCm39) |
T91M |
probably damaging |
Het |
| Prph2 |
A |
G |
17: 47,230,790 (GRCm39) |
T228A |
probably benign |
Het |
| Ranbp17 |
G |
T |
11: 33,169,214 (GRCm39) |
S1000* |
probably null |
Het |
| Rbm27 |
A |
C |
18: 42,457,178 (GRCm39) |
H651P |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,476,835 (GRCm39) |
D763E |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,488,644 (GRCm39) |
Y598C |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,451,322 (GRCm39) |
K322I |
probably benign |
Het |
| Tcf4 |
G |
A |
18: 69,790,873 (GRCm39) |
R271Q |
probably null |
Het |
| Tex36 |
C |
T |
7: 133,196,140 (GRCm39) |
D87N |
probably damaging |
Het |
| Tex44 |
A |
C |
1: 86,354,751 (GRCm39) |
H220P |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,950,825 (GRCm39) |
D1683G |
possibly damaging |
Het |
| Trav7-2 |
T |
C |
14: 53,628,573 (GRCm39) |
S104P |
probably damaging |
Het |
| Trim55 |
C |
T |
3: 19,745,719 (GRCm39) |
R532C |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,807,215 (GRCm39) |
L338Q |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,546,556 (GRCm39) |
H3444R |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,234,717 (GRCm39) |
D1182G |
probably benign |
Het |
| Vit |
T |
A |
17: 78,930,232 (GRCm39) |
I399N |
possibly damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,091 (GRCm39) |
L177* |
probably null |
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 |
|
|
R5476:Mroh4
|
UTSW |
15 |
74,483,510 (GRCm39) |
missense |
probably benign |
0.15 |
|
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 |
|
|
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'- TTGGGATTTCCTCAGGCCAC -3'
(R):5'- ATGGTCCAAAGCTGTGAGG -3'
Sequencing Primer
(F):5'- ACCCCACTGAGCTGTAGTC -3'
(R):5'- TGTGAGGCACCCCAGAACTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation