Incidental Mutation 'R3683:Myg1'
| ID |
269448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myg1
|
| Ensembl Gene |
ENSMUSG00000001285 |
| Gene Name |
melanocyte proliferating gene 1 |
| Synonyms |
Gamm1 |
| MMRRC Submission |
040681-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R3683 (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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
T |
C |
X: 80,463,841 (GRCm39) |
D622G |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 103,992,543 (GRCm39) |
I495T |
probably damaging |
Het |
| Acat1 |
C |
T |
9: 53,498,765 (GRCm39) |
A307T |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Bmp2 |
T |
A |
2: 133,396,392 (GRCm39) |
V16D |
probably benign |
Het |
| Cables2 |
G |
A |
2: 179,906,263 (GRCm39) |
R121* |
probably null |
Het |
| Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
| Csrnp2 |
A |
T |
15: 100,379,879 (GRCm39) |
S471T |
probably benign |
Het |
| Dnah7a |
C |
A |
1: 53,483,675 (GRCm39) |
M3367I |
probably benign |
Het |
| Elp4 |
A |
T |
2: 105,533,106 (GRCm39) |
M413K |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,470,975 (GRCm39) |
D1593G |
probably benign |
Het |
| Fbxw24 |
G |
A |
9: 109,437,110 (GRCm39) |
P259L |
possibly damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,260 (GRCm39) |
N2S |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,075,328 (GRCm39) |
D1015G |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,930,880 (GRCm39) |
D779G |
probably damaging |
Het |
| Or2d3c |
G |
A |
7: 106,526,301 (GRCm39) |
R122* |
probably null |
Het |
| Or4a73 |
C |
A |
2: 89,421,099 (GRCm39) |
R120L |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,364 (GRCm39) |
M1K |
probably null |
Het |
| Or5d37 |
T |
A |
2: 87,923,603 (GRCm39) |
I226F |
probably damaging |
Het |
| Osmr |
A |
C |
15: 6,866,534 (GRCm39) |
V380G |
possibly damaging |
Het |
| Phf21b |
A |
G |
15: 84,682,891 (GRCm39) |
I222T |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,544,489 (GRCm39) |
T347K |
probably benign |
Het |
| Sema6d |
G |
T |
2: 124,496,146 (GRCm39) |
L63F |
possibly damaging |
Het |
| Serpinb9b |
C |
T |
13: 33,213,581 (GRCm39) |
A46V |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,540,253 (GRCm39) |
|
probably null |
Het |
| Smpd1 |
T |
A |
7: 105,204,609 (GRCm39) |
C163S |
probably damaging |
Het |
| Stat4 |
C |
T |
1: 52,052,981 (GRCm39) |
T54I |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,226,800 (GRCm39) |
S1162G |
probably benign |
Het |
| Tbc1d20 |
C |
T |
2: 152,153,737 (GRCm39) |
T354I |
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,815,210 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,542,579 (GRCm39) |
M1802T |
probably benign |
Het |
| Vmn1r8 |
A |
C |
6: 57,013,260 (GRCm39) |
T104P |
probably damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,304,721 (GRCm39) |
R570I |
probably damaging |
Het |
| Zfand6 |
G |
A |
7: 84,283,570 (GRCm39) |
P11S |
probably damaging |
Het |
| Zfp1005 |
A |
G |
2: 150,109,976 (GRCm39) |
K222R |
probably benign |
Het |
| Zmpste24 |
A |
G |
4: 120,918,288 (GRCm39) |
F445L |
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 |
|
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 |
|
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'- ATGACTCTACCTACCTTGAAGTCTG -3'
(R):5'- TGAGATGGTTGTCAACTGAAAAGC -3'
Sequencing Primer
(F):5'- ACCTTGAAGTCTGTCTCAGCAC -3'
(R):5'- GTTGTCAACTGAAAAGCAAAGCAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation