Incidental Mutation 'R5419:Myg1'
ID |
427951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myg1
|
Ensembl Gene |
ENSMUSG00000001285 |
Gene Name |
melanocyte proliferating gene 1 |
Synonyms |
Gamm1 |
MMRRC Submission |
042987-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
R5419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
102240144-102246574 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102245397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 206
(N206I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001331]
[ENSMUST00000041208]
[ENSMUST00000113682]
[ENSMUST00000229900]
[ENSMUST00000230481]
[ENSMUST00000228959]
[ENSMUST00000231061]
|
AlphaFold |
Q9JK81 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001331
|
SMART Domains |
Protein: ENSMUSP00000001331 Gene: ENSMUSG00000001285
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: N206I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109312 Gene: ENSMUSG00000001285 AA Change: N206I
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 |
noncoding transcript
Transcript: ENSMUST00000171733
|
Predicted Effect |
unknown
Transcript: ENSMUST00000171244
AA Change: N201I
|
SMART Domains |
Protein: ENSMUSP00000129494 Gene: ENSMUSG00000001285 AA Change: N201I
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: ENSMUST00000170281
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229900
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230481
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230239
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230406
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230710
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230812
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231061
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231099
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
C |
T |
9: 46,220,624 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,143,533 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
T |
7: 75,259,991 (GRCm39) |
T69S |
probably benign |
Het |
Arl1 |
T |
A |
10: 88,572,966 (GRCm39) |
C80S |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,162,916 (GRCm39) |
L926* |
probably null |
Het |
Brsk1 |
A |
G |
7: 4,712,003 (GRCm39) |
T618A |
possibly damaging |
Het |
Cep295 |
T |
C |
9: 15,235,533 (GRCm39) |
H1982R |
probably damaging |
Het |
Ces5a |
A |
T |
8: 94,226,059 (GRCm39) |
S559T |
unknown |
Het |
Clcf1 |
A |
G |
19: 4,272,213 (GRCm39) |
N90S |
possibly damaging |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Cobll1 |
A |
T |
2: 64,933,701 (GRCm39) |
D430E |
possibly damaging |
Het |
Cyp1a2 |
T |
A |
9: 57,589,794 (GRCm39) |
I7F |
probably benign |
Het |
Cyp2b23 |
G |
A |
7: 26,380,848 (GRCm39) |
R126* |
probably null |
Het |
Daam2 |
A |
G |
17: 49,787,782 (GRCm39) |
W444R |
possibly damaging |
Het |
Dcbld2 |
T |
A |
16: 58,275,621 (GRCm39) |
C446S |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Eif2d |
T |
C |
1: 131,086,035 (GRCm39) |
*177R |
probably null |
Het |
Fkbp15 |
G |
A |
4: 62,246,114 (GRCm39) |
A438V |
probably damaging |
Het |
Gjb5 |
G |
A |
4: 127,249,652 (GRCm39) |
A164V |
probably benign |
Het |
Grin1 |
A |
T |
2: 25,188,285 (GRCm39) |
|
probably null |
Het |
Grm3 |
A |
G |
5: 9,620,233 (GRCm39) |
F337S |
probably damaging |
Het |
Hey2 |
T |
A |
10: 30,710,019 (GRCm39) |
T245S |
probably benign |
Het |
Ifi206 |
T |
C |
1: 173,308,797 (GRCm39) |
T400A |
probably benign |
Het |
Itga7 |
G |
A |
10: 128,779,902 (GRCm39) |
E480K |
probably null |
Het |
Itpr1 |
T |
C |
6: 108,470,755 (GRCm39) |
Y2227H |
possibly damaging |
Het |
Krt8 |
T |
C |
15: 101,912,337 (GRCm39) |
D113G |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lins1 |
A |
G |
7: 66,357,843 (GRCm39) |
|
probably benign |
Het |
Lmf1 |
A |
T |
17: 25,881,610 (GRCm39) |
D553V |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,786,992 (GRCm39) |
S536P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,620,716 (GRCm39) |
C3587* |
probably null |
Het |
Macf1 |
A |
T |
4: 123,290,917 (GRCm39) |
D3435E |
possibly damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Myl12a |
T |
G |
17: 71,301,694 (GRCm39) |
R144S |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,055,179 (GRCm39) |
I454K |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,965,051 (GRCm39) |
D1545G |
probably benign |
Het |
Ogdhl |
T |
G |
14: 32,061,181 (GRCm39) |
D457E |
probably damaging |
Het |
Or5ac20 |
T |
A |
16: 59,104,704 (GRCm39) |
D52V |
probably damaging |
Het |
Or9s18 |
A |
C |
13: 65,300,588 (GRCm39) |
L183F |
probably damaging |
Het |
Paf1 |
A |
G |
7: 28,095,095 (GRCm39) |
I112V |
possibly damaging |
Het |
Pate7 |
T |
A |
9: 35,689,407 (GRCm39) |
|
probably null |
Het |
Pcdhga4 |
C |
T |
18: 37,819,798 (GRCm39) |
P449L |
probably damaging |
Het |
Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
Ptgs1 |
A |
G |
2: 36,127,234 (GRCm39) |
Y40C |
probably damaging |
Het |
Ptprn2 |
A |
T |
12: 117,148,267 (GRCm39) |
I676F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,700,927 (GRCm39) |
L1808P |
possibly damaging |
Het |
Sall2 |
A |
G |
14: 52,550,586 (GRCm39) |
S868P |
probably damaging |
Het |
Shoc1 |
A |
T |
4: 59,049,017 (GRCm39) |
M1116K |
probably benign |
Het |
Slc47a2 |
A |
G |
11: 61,198,412 (GRCm39) |
F428L |
probably benign |
Het |
Slco1a7 |
C |
T |
6: 141,681,826 (GRCm39) |
|
probably null |
Het |
Slco3a1 |
A |
T |
7: 73,934,363 (GRCm39) |
F603Y |
possibly damaging |
Het |
Smyd2 |
A |
T |
1: 189,642,090 (GRCm39) |
C65* |
probably null |
Het |
Ssu72 |
T |
C |
4: 155,800,007 (GRCm39) |
F57L |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,813,709 (GRCm39) |
T1718A |
probably benign |
Het |
Tnks |
G |
C |
8: 35,432,720 (GRCm39) |
P34A |
unknown |
Het |
Top3a |
G |
A |
11: 60,653,348 (GRCm39) |
T42I |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,369 (GRCm39) |
S2369P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubqln1 |
T |
C |
13: 58,330,997 (GRCm39) |
Q410R |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,207,224 (GRCm39) |
I32T |
possibly damaging |
Het |
Xcr1 |
A |
G |
9: 123,685,375 (GRCm39) |
F129S |
probably benign |
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 |
R3827: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 |
R9389:Myg1
|
UTSW |
15 |
102,245,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATTTGTCAAACACCGAGG -3'
(R):5'- GAAACTCCTCTTGTACCAGGTCC -3'
Sequencing Primer
(F):5'- TGTGTTACGTGCCGTCAAGC -3'
(R):5'- AGGTCCATTGCTCGCCTGAAC -3'
|
Posted On |
2016-09-01 |