Incidental Mutation 'R6427:Mro'
| ID |
518382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mro
|
| Ensembl Gene |
ENSMUSG00000064036 |
| Gene Name |
maestro |
| Synonyms |
4930507C04Rik, 4933435E20Rik |
| MMRRC Submission |
044566-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6427 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
73992465-74014405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74005104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 69
(L69Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119239]
[ENSMUST00000120033]
[ENSMUST00000134847]
[ENSMUST00000179472]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119239
AA Change: L69Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113392
Gene: ENSMUSG00000064036
AA Change: L69Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
23 |
239 |
9e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120033
AA Change: L69Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113434
Gene: ENSMUSG00000064036
AA Change: L69Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
23 |
240 |
3e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139821
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179472
AA Change: L69Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136775
Gene: ENSMUSG00000064036
AA Change: L69Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
23 |
240 |
3e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Ankmy2 |
A |
G |
12: 36,237,710 (GRCm39) |
S270G |
possibly damaging |
Het |
| Anxa2 |
T |
A |
9: 69,383,431 (GRCm39) |
|
probably null |
Het |
| Arid1a |
G |
T |
4: 133,408,835 (GRCm39) |
P1891T |
unknown |
Het |
| Atn1 |
G |
T |
6: 124,723,139 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,356,157 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
C |
14: 59,743,719 (GRCm39) |
K94N |
possibly damaging |
Het |
| Cacna2d2 |
G |
T |
9: 107,392,641 (GRCm39) |
M528I |
possibly damaging |
Het |
| Ccnc |
T |
A |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,464,596 (GRCm39) |
L1268P |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,721,512 (GRCm39) |
T774I |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 96,024,387 (GRCm39) |
|
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,412,156 (GRCm39) |
F209L |
probably damaging |
Het |
| Cyp2j7 |
C |
A |
4: 96,115,904 (GRCm39) |
D181Y |
probably damaging |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Ddr1 |
C |
A |
17: 35,998,114 (GRCm39) |
R477L |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,310 (GRCm39) |
T22A |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,728,081 (GRCm39) |
D294G |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,241,439 (GRCm39) |
I569V |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,573,227 (GRCm39) |
R2141S |
possibly damaging |
Het |
| Kat6b |
T |
C |
14: 21,567,480 (GRCm39) |
S180P |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,631,454 (GRCm39) |
E655K |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,381,049 (GRCm39) |
L581H |
probably benign |
Het |
| Nkiras2 |
C |
T |
11: 100,515,861 (GRCm39) |
R63W |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,058 (GRCm39) |
S182T |
possibly damaging |
Het |
| Obi1 |
T |
C |
14: 104,717,662 (GRCm39) |
K237R |
possibly damaging |
Het |
| Or52b4i |
A |
T |
7: 102,191,895 (GRCm39) |
I251F |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,395,126 (GRCm39) |
S553P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,086,786 (GRCm39) |
I323T |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,965,181 (GRCm39) |
A756S |
probably damaging |
Het |
| Prex2 |
A |
T |
1: 11,252,255 (GRCm39) |
Y1100F |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,242 (GRCm39) |
S328T |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,774,998 (GRCm39) |
T52A |
probably damaging |
Het |
| Taf3 |
A |
T |
2: 9,956,164 (GRCm39) |
F515I |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,176,966 (GRCm39) |
|
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,120,947 (GRCm39) |
Y322C |
possibly damaging |
Het |
| Zfp735 |
G |
A |
11: 73,581,140 (GRCm39) |
C59Y |
possibly damaging |
Het |
| Zfp759 |
A |
G |
13: 67,287,162 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mro |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0471:Mro
|
UTSW |
18 |
74,009,860 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1671:Mro
|
UTSW |
18 |
74,003,126 (GRCm39) |
splice site |
probably benign |
|
|
R1720:Mro
|
UTSW |
18 |
74,009,806 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2267:Mro
|
UTSW |
18 |
74,006,368 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4691:Mro
|
UTSW |
18 |
74,006,397 (GRCm39) |
missense |
probably benign |
|
|
R5382:Mro
|
UTSW |
18 |
74,009,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6178:Mro
|
UTSW |
18 |
74,006,295 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6833:Mro
|
UTSW |
18 |
73,997,003 (GRCm39) |
start gained |
probably benign |
|
|
R7354:Mro
|
UTSW |
18 |
74,006,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7686:Mro
|
UTSW |
18 |
74,010,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8006:Mro
|
UTSW |
18 |
74,010,577 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8277:Mro
|
UTSW |
18 |
73,997,132 (GRCm39) |
splice site |
probably benign |
|
|
R9031:Mro
|
UTSW |
18 |
74,009,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF016:Mro
|
UTSW |
18 |
74,003,035 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCACACCATTCACTGCTCTG -3'
(R):5'- CGCAGTCGTACCATTCGAAG -3'
Sequencing Primer
(F):5'- CTATCTGGCCAGCGAACTTTGAAAG -3'
(R):5'- AGGTTCTGCACAGATACTGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation