Incidental Mutation 'R3827:Myg1'
ID |
273819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myg1
|
Ensembl Gene |
ENSMUSG00000001285 |
Gene Name |
melanocyte proliferating gene 1 |
Synonyms |
Gamm1 |
MMRRC Submission |
040775-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R3827 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
102240144-102246574 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 102246171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 349
(G349R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001331]
[ENSMUST00000041208]
[ENSMUST00000113682]
[ENSMUST00000229900]
[ENSMUST00000230481]
[ENSMUST00000231061]
[ENSMUST00000228959]
|
AlphaFold |
Q9JK81 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001331
AA Change: G295R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001331 Gene: ENSMUSG00000001285 AA Change: G295R
Domain | Start | End | E-Value | Type |
Pfam:UPF0160
|
41 |
161 |
4.8e-54 |
PFAM |
Pfam:UPF0160
|
158 |
312 |
1.3e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041208
|
SMART Domains |
Protein: ENSMUSP00000044604 Gene: ENSMUSG00000036678
Domain | Start | End | E-Value | Type |
WD40
|
136 |
179 |
3.7e0 |
SMART |
WD40
|
181 |
221 |
4.75e1 |
SMART |
WD40
|
232 |
273 |
1.17e-5 |
SMART |
WD40
|
278 |
315 |
2.66e0 |
SMART |
Blast:WD40
|
319 |
357 |
2e-15 |
BLAST |
low complexity region
|
534 |
545 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113682
AA Change: G349R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109312 Gene: ENSMUSG00000001285 AA Change: G349R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:UPF0160
|
45 |
365 |
1.5e-143 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164961
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170078
|
Predicted Effect |
unknown
Transcript: ENSMUST00000171244
AA Change: G303R
|
SMART Domains |
Protein: ENSMUSP00000129494 Gene: ENSMUSG00000001285 AA Change: G303R
Domain | Start | End | E-Value | Type |
Pfam:UPF0160
|
41 |
209 |
1.7e-76 |
PFAM |
Pfam:UPF0160
|
204 |
306 |
3.3e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170713
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229589
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230710
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230481
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230406
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230812
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231061
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231099
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228959
|
Meta Mutation Damage Score |
0.9645 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display no gross abnormalities but altered sex-dependent anxiety-like behaviors in different tests. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,110,467 (GRCm39) |
N878S |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,045,409 (GRCm39) |
D342N |
probably benign |
Het |
Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
Dpp10 |
G |
A |
1: 123,339,519 (GRCm39) |
T336I |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,125,741 (GRCm39) |
S625P |
possibly damaging |
Het |
Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
Gab2 |
T |
A |
7: 96,872,948 (GRCm39) |
I117N |
probably damaging |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gper1 |
T |
C |
5: 139,412,755 (GRCm39) |
S367P |
probably benign |
Het |
Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
H2-Q6 |
A |
T |
17: 35,644,655 (GRCm39) |
N148I |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,090,732 (GRCm39) |
|
probably null |
Het |
Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
Or52e19 |
T |
A |
7: 102,959,009 (GRCm39) |
I27N |
probably benign |
Het |
Paip1 |
T |
A |
13: 119,566,768 (GRCm39) |
M1K |
probably null |
Het |
Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
Skint6 |
G |
T |
4: 112,794,634 (GRCm39) |
L712I |
probably benign |
Het |
Slc35a4 |
C |
A |
18: 36,816,041 (GRCm39) |
N290K |
probably damaging |
Het |
Slco1a5 |
T |
A |
6: 142,198,975 (GRCm39) |
D230V |
probably damaging |
Het |
Sox21 |
C |
T |
14: 118,472,870 (GRCm39) |
E60K |
possibly damaging |
Het |
Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Sulf1 |
G |
A |
1: 12,887,656 (GRCm39) |
V277I |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,033,805 (GRCm39) |
R3685G |
probably benign |
Het |
Tmem203 |
T |
A |
2: 25,146,018 (GRCm39) |
W113R |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,914,787 (GRCm39) |
V784E |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,548 (GRCm39) |
T56A |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
|
Other mutations in Myg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01369:Myg1
|
APN |
15 |
102,242,773 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02188:Myg1
|
APN |
15 |
102,245,876 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02373:Myg1
|
APN |
15 |
102,245,268 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02885:Myg1
|
APN |
15 |
102,240,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03066:Myg1
|
APN |
15 |
102,242,801 (GRCm39) |
unclassified |
probably benign |
|
R0583:Myg1
|
UTSW |
15 |
102,246,225 (GRCm39) |
nonsense |
probably null |
|
R0631:Myg1
|
UTSW |
15 |
102,240,284 (GRCm39) |
missense |
probably benign |
0.00 |
R0835:Myg1
|
UTSW |
15 |
102,240,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R1016:Myg1
|
UTSW |
15 |
102,242,786 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1466:Myg1
|
UTSW |
15 |
102,245,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Myg1
|
UTSW |
15 |
102,245,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Myg1
|
UTSW |
15 |
102,240,264 (GRCm39) |
missense |
probably benign |
|
R2400:Myg1
|
UTSW |
15 |
102,246,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R2428:Myg1
|
UTSW |
15 |
102,246,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R2429:Myg1
|
UTSW |
15 |
102,246,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R2431:Myg1
|
UTSW |
15 |
102,246,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R2997:Myg1
|
UTSW |
15 |
102,245,945 (GRCm39) |
missense |
probably null |
1.00 |
R3683:Myg1
|
UTSW |
15 |
102,246,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R3826:Myg1
|
UTSW |
15 |
102,246,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R3829:Myg1
|
UTSW |
15 |
102,246,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R4923:Myg1
|
UTSW |
15 |
102,240,288 (GRCm39) |
missense |
probably benign |
|
R5363:Myg1
|
UTSW |
15 |
102,246,259 (GRCm39) |
missense |
probably benign |
0.00 |
R5419:Myg1
|
UTSW |
15 |
102,245,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R9389:Myg1
|
UTSW |
15 |
102,245,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTCTACCTACCTTGAAGTCTGTC -3'
(R):5'- AGATGGTTGTCAACTGAAAAGC -3'
Sequencing Primer
(F):5'- ACCTTGAAGTCTGTCTCAGCAC -3'
(R):5'- GTTGTCAACTGAAAAGCAAAGCAC -3'
|
Posted On |
2015-04-02 |