Incidental Mutation 'R3829:Myg1'
| ID |
273914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myg1
|
| Ensembl Gene |
ENSMUSG00000001285 |
| Gene Name |
melanocyte proliferating gene 1 |
| Synonyms |
Gamm1 |
| MMRRC Submission |
040776-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R3829 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
T |
14: 54,821,966 (GRCm39) |
H466Q |
probably damaging |
Het |
| 4933411K16Rik |
A |
T |
19: 42,041,322 (GRCm39) |
H151L |
probably damaging |
Het |
| A330008L17Rik |
A |
G |
8: 100,148,389 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
C |
A |
16: 20,184,615 (GRCm39) |
V1015L |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,962,173 (GRCm39) |
K3929R |
probably damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,382,148 (GRCm39) |
D320G |
probably benign |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,836,355 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,675 (GRCm39) |
V1015A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,313,274 (GRCm39) |
M25K |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,310,795 (GRCm39) |
D154G |
probably damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cyct |
T |
C |
2: 76,184,512 (GRCm39) |
K80E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,232 (GRCm39) |
V628A |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,379,830 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,917,167 (GRCm39) |
F592Y |
probably damaging |
Het |
| Gm10259 |
T |
G |
3: 25,266,693 (GRCm39) |
|
noncoding transcript |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hap1 |
G |
T |
11: 100,246,847 (GRCm39) |
D19E |
probably damaging |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Mrpl50 |
T |
C |
4: 49,514,539 (GRCm39) |
E44G |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,096,423 (GRCm39) |
I301V |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,820,452 (GRCm39) |
Y824H |
possibly damaging |
Het |
| Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,462,828 (GRCm39) |
M635K |
probably damaging |
Het |
| Phip |
A |
G |
9: 82,753,698 (GRCm39) |
I1682T |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,794 (GRCm39) |
N223S |
probably benign |
Het |
| Ralb |
A |
T |
1: 119,399,447 (GRCm39) |
C204S |
probably benign |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
A |
G |
5: 135,886,068 (GRCm39) |
D336G |
probably damaging |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Tiam2 |
C |
G |
17: 3,557,976 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmprss11b |
T |
C |
5: 86,809,449 (GRCm39) |
T348A |
probably damaging |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Veph1 |
T |
A |
3: 66,066,748 (GRCm39) |
E413D |
possibly damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,325,759 (GRCm39) |
W126G |
probably damaging |
Het |
| Yrdc |
T |
A |
4: 124,745,554 (GRCm39) |
M1K |
probably null |
Het |
| Zfp445 |
T |
C |
9: 122,682,142 (GRCm39) |
M600V |
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 |
|
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 |
Incidental Mutation