Incidental Mutation 'R5363:Myg1'
| ID |
422953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myg1
|
| Ensembl Gene |
ENSMUSG00000001285 |
| Gene Name |
melanocyte proliferating gene 1 |
| Synonyms |
Gamm1 |
| MMRRC Submission |
042941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R5363 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102240144-102246574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102246259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 378
(V378A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001331]
[ENSMUST00000041208]
[ENSMUST00000113682]
[ENSMUST00000230481]
[ENSMUST00000231061]
[ENSMUST00000229900]
[ENSMUST00000228959]
|
| AlphaFold |
Q9JK81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001331
AA Change: V324A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000001331
Gene: ENSMUSG00000001285
AA Change: V324A
| 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 benign
Transcript: ENSMUST00000113682
AA Change: V378A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109312
Gene: ENSMUSG00000001285
AA Change: V378A
| 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 |
noncoding transcript
Transcript: ENSMUST00000170713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231061
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230812
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231099
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230239
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229589
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171244
|
| SMART Domains |
Protein: ENSMUSP00000129494
Gene: ENSMUSG00000001285
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0160
|
41 |
209 |
1.7e-76 |
PFAM |
|
Pfam:UPF0160
|
204 |
306 |
3.3e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,132,963 (GRCm39) |
I40T |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,227,035 (GRCm39) |
V597A |
possibly damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,492,114 (GRCm39) |
|
probably null |
Het |
| Ap4e1 |
G |
A |
2: 126,879,784 (GRCm39) |
|
probably null |
Het |
| Apod |
T |
C |
16: 31,129,909 (GRCm39) |
T16A |
probably benign |
Het |
| Arrdc5 |
C |
T |
17: 56,607,138 (GRCm39) |
V36M |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,902,794 (GRCm39) |
V328A |
probably damaging |
Het |
| Bche |
A |
G |
3: 73,607,972 (GRCm39) |
Y485H |
probably damaging |
Het |
| Btbd6 |
A |
G |
12: 112,941,756 (GRCm39) |
Y356C |
probably damaging |
Het |
| Cdh4 |
A |
G |
2: 179,528,556 (GRCm39) |
T555A |
probably benign |
Het |
| Ciita |
C |
T |
16: 10,330,031 (GRCm39) |
H769Y |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,455,579 (GRCm39) |
D35G |
possibly damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,358,986 (GRCm39) |
M562K |
probably benign |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,858 (GRCm39) |
Q235L |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,669,410 (GRCm39) |
S1091P |
probably damaging |
Het |
| Dync1li1 |
T |
A |
9: 114,544,297 (GRCm39) |
I323N |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,154 (GRCm39) |
N349S |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,448,666 (GRCm39) |
M338T |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Lactb2 |
A |
T |
1: 13,700,356 (GRCm39) |
I225N |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mrps30 |
A |
G |
13: 118,523,698 (GRCm39) |
S25P |
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,806,097 (GRCm39) |
T1731I |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,710,660 (GRCm39) |
D121G |
probably damaging |
Het |
| Or10p21 |
C |
A |
10: 128,847,783 (GRCm39) |
P210T |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,980,146 (GRCm39) |
D72E |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,424 (GRCm39) |
D1187G |
unknown |
Het |
| Pkd1 |
T |
A |
17: 24,784,047 (GRCm39) |
Y198N |
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,756,419 (GRCm39) |
N83K |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,095,630 (GRCm39) |
Q378L |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rasa1 |
G |
T |
13: 85,436,674 (GRCm39) |
T118K |
possibly damaging |
Het |
| Rin3 |
G |
A |
12: 102,292,093 (GRCm39) |
V97M |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,015,655 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
A |
G |
13: 55,551,081 (GRCm39) |
I289V |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,560,103 (GRCm39) |
L443P |
probably damaging |
Het |
| Slco2a1 |
A |
T |
9: 102,947,462 (GRCm39) |
I254F |
probably damaging |
Het |
| Spink11 |
T |
C |
18: 44,328,753 (GRCm39) |
I32V |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,639,625 (GRCm39) |
E296G |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,220,498 (GRCm39) |
N410D |
probably damaging |
Het |
| Syt14 |
T |
A |
1: 192,612,971 (GRCm39) |
T610S |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 48,740,866 (GRCm39) |
I1206V |
possibly damaging |
Het |
| Tet3 |
A |
T |
6: 83,353,746 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
A |
T |
2: 117,953,147 (GRCm39) |
Q919L |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,024,674 (GRCm39) |
F1152L |
possibly damaging |
Het |
| Trp63 |
C |
A |
16: 25,682,468 (GRCm39) |
N176K |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,194,072 (GRCm39) |
E700G |
probably benign |
Het |
| Zfp446 |
G |
A |
7: 12,711,984 (GRCm39) |
R69H |
probably benign |
Het |
| Zfy2 |
C |
T |
Y: 2,106,555 (GRCm39) |
C693Y |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,128 (GRCm39) |
T587A |
probably damaging |
Het |
| Zyg11a |
A |
G |
4: 108,046,819 (GRCm39) |
C552R |
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 |
|
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 |
|
|
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'- TCTGTGTAGGCTACCCTTGC -3'
(R):5'- ATCAAGTTATGTACTCCTAGGGTGG -3'
Sequencing Primer
(F):5'- TTGCCCGAGCCATGGAGAG -3'
(R):5'- CAAATGTGTGTCTAGTGCCCACAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation