Incidental Mutation 'R3826:Myg1'
ID |
275431 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myg1
|
Ensembl Gene |
ENSMUSG00000001285 |
Gene Name |
melanocyte proliferating gene 1 |
Synonyms |
Gamm1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
R3826 (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: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
100% (56/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
T |
A |
3: 59,843,896 (GRCm39) |
S197T |
possibly damaging |
Het |
Actl6b |
T |
C |
5: 137,565,535 (GRCm39) |
L377P |
probably damaging |
Het |
Apc |
C |
A |
18: 34,412,388 (GRCm39) |
Q236K |
possibly damaging |
Het |
Atn1 |
G |
A |
6: 124,723,182 (GRCm39) |
|
probably benign |
Het |
Ccr3 |
A |
G |
9: 123,829,714 (GRCm39) |
T350A |
possibly damaging |
Het |
Cdc42bpg |
T |
C |
19: 6,367,675 (GRCm39) |
V1015A |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
Col1a2 |
A |
G |
6: 4,516,960 (GRCm39) |
|
probably benign |
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 |
Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
Dlec1 |
T |
C |
9: 118,972,129 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
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 |
Gas2 |
T |
C |
7: 51,586,367 (GRCm39) |
|
probably null |
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 |
Hgfac |
C |
A |
5: 35,205,506 (GRCm39) |
D595E |
probably damaging |
Het |
Kcnj10 |
A |
T |
1: 172,197,616 (GRCm39) |
S377C |
probably damaging |
Het |
Kcnq2 |
C |
T |
2: 180,746,693 (GRCm39) |
V369I |
possibly damaging |
Het |
Kcnt1 |
T |
C |
2: 25,805,880 (GRCm39) |
|
probably null |
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 |
Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
Muc21 |
A |
G |
17: 35,932,504 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
Or5t17 |
T |
A |
2: 86,832,388 (GRCm39) |
I25K |
probably damaging |
Het |
Or9g4b |
C |
T |
2: 85,616,559 (GRCm39) |
R235* |
probably null |
Het |
Panx2 |
A |
G |
15: 88,952,664 (GRCm39) |
D377G |
probably damaging |
Het |
Pcdhb10 |
C |
A |
18: 37,545,470 (GRCm39) |
T182N |
probably damaging |
Het |
Pdha2 |
G |
T |
3: 140,916,889 (GRCm39) |
F206L |
possibly damaging |
Het |
Pgd |
T |
C |
4: 149,250,461 (GRCm39) |
|
probably benign |
Het |
Pgs1 |
C |
T |
11: 117,910,584 (GRCm39) |
|
probably null |
Het |
Rere |
T |
C |
4: 150,554,785 (GRCm39) |
V161A |
probably benign |
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 |
Rubcnl |
C |
T |
14: 75,269,665 (GRCm39) |
L108F |
possibly damaging |
Het |
Sap18b |
T |
C |
8: 96,552,185 (GRCm39) |
F65S |
probably damaging |
Het |
Scap |
A |
G |
9: 110,210,365 (GRCm39) |
M925V |
probably benign |
Het |
Slc7a8 |
A |
G |
14: 54,975,029 (GRCm39) |
I200T |
probably damaging |
Het |
Srrm3 |
A |
G |
5: 135,886,068 (GRCm39) |
D336G |
probably damaging |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Tiam2 |
C |
G |
17: 3,557,976 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Trio |
T |
A |
15: 27,833,156 (GRCm39) |
K75N |
probably damaging |
Het |
Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
Zfp37 |
T |
C |
4: 62,110,800 (GRCm39) |
N88S |
probably benign |
Het |
Zswim8 |
C |
T |
14: 20,761,157 (GRCm39) |
R142* |
probably null |
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 |
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'- ACAGAATGACTCTACCTACCTTG -3'
(R):5'- GTTGTCAACTGAAAAGCAAAGCAC -3'
Sequencing Primer
(F):5'- GAATGACTCTACCTACCTTGAAGTC -3'
(R):5'- AGCAAAGCACTTACAAGTCTAAG -3'
|
Posted On |
2015-04-02 |