Incidental Mutation 'R0688:Mroh4'
| ID |
61253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mroh4
|
| Ensembl Gene |
ENSMUSG00000022603 |
| Gene Name |
maestro heat-like repeat family member 4 |
| Synonyms |
1700016M24Rik |
| MMRRC Submission |
038873-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0688 (G1)
|
| Quality Score |
130 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
74477878-74508202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74478527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 923
(K923E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023271]
[ENSMUST00000137963]
|
| AlphaFold |
G3X8W1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023271
AA Change: K923E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023271
Gene: ENSMUSG00000022603
AA Change: K923E
| 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 damaging
Transcript: ENSMUST00000137963
AA Change: K854E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117011
Gene: ENSMUSG00000022603
AA Change: K854E
| 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: ENSMUST00000177179
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
G |
9: 104,001,299 (GRCm39) |
V615G |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,897,567 (GRCm39) |
E305D |
possibly damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,419 (GRCm39) |
S253P |
probably damaging |
Het |
| Bbs9 |
T |
A |
9: 22,479,015 (GRCm39) |
C153S |
probably damaging |
Het |
| Bicra |
C |
T |
7: 15,723,247 (GRCm39) |
G90D |
probably damaging |
Het |
| Clca4a |
A |
C |
3: 144,667,735 (GRCm39) |
L412R |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,249,281 (GRCm39) |
D597E |
possibly damaging |
Het |
| Cxcr5 |
A |
G |
9: 44,424,964 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Focad |
T |
A |
4: 88,192,450 (GRCm39) |
V593D |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,812,683 (GRCm39) |
S3001T |
probably benign |
Het |
| Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
| Gdf9 |
T |
A |
11: 53,327,467 (GRCm39) |
L141Q |
probably damaging |
Het |
| Gpr180 |
A |
G |
14: 118,385,596 (GRCm39) |
D136G |
probably benign |
Het |
| Hsd3b9 |
T |
C |
3: 98,363,710 (GRCm39) |
E45G |
probably benign |
Het |
| Itga2 |
G |
T |
13: 114,976,090 (GRCm39) |
A1094E |
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,146,565 (GRCm39) |
A1238T |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,738 (GRCm39) |
V502A |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,714,966 (GRCm39) |
D474G |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,522 (GRCm39) |
Y1077N |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,939 (GRCm39) |
S202R |
probably damaging |
Het |
| Or6c69 |
T |
G |
10: 129,747,752 (GRCm39) |
T132P |
probably damaging |
Het |
| Or6k14 |
A |
C |
1: 173,927,630 (GRCm39) |
H202P |
probably damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,949 (GRCm39) |
|
probably null |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Phyhipl |
C |
T |
10: 70,395,085 (GRCm39) |
G329R |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,013,086 (GRCm39) |
Y430H |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,927 (GRCm39) |
F409S |
probably benign |
Het |
| Prkd3 |
A |
T |
17: 79,264,662 (GRCm39) |
M651K |
probably damaging |
Het |
| Puf60 |
A |
T |
15: 75,942,623 (GRCm39) |
M440K |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,594,009 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
C |
10: 21,874,059 (GRCm39) |
M320L |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,351,706 (GRCm39) |
T235A |
probably damaging |
Het |
| Srrm3 |
A |
G |
5: 135,898,130 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,063,528 (GRCm39) |
T986I |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,955,517 (GRCm39) |
M301V |
possibly 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 |
|
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 |
|
|
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'- GGATGTCAAGGATGTGGTTAGCAGC -3'
(R):5'- TGGACTCCCCTCACTGGATTGAATG -3'
Sequencing Primer
(F):5'- AGCTGCAACCCTTGTCCAC -3'
(R):5'- TCTAGGGGACTCAGATGCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation