Incidental Mutation 'IGL01075:Myadm'
| ID |
51458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myadm
|
| Ensembl Gene |
ENSMUSG00000068566 |
| Gene Name |
myeloid-associated differentiation marker |
| Synonyms |
D7Wsu62e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
IGL01075
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3337563-3347871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3345762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 175
(T175P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096744]
[ENSMUST00000164553]
[ENSMUST00000203328]
[ENSMUST00000203566]
[ENSMUST00000204541]
|
| AlphaFold |
O35682 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096744
AA Change: T175P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094505
Gene: ENSMUSG00000068566
AA Change: T175P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
25 |
151 |
7.2e-16 |
PFAM |
|
Pfam:MARVEL
|
162 |
311 |
1.6e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164553
AA Change: T175P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131318
Gene: ENSMUSG00000068566
AA Change: T175P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
25 |
151 |
5.6e-16 |
PFAM |
|
Pfam:MARVEL
|
162 |
311 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203328
AA Change: T175P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144984
Gene: ENSMUSG00000068566
AA Change: T175P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
25 |
151 |
5.6e-16 |
PFAM |
|
Pfam:MARVEL
|
162 |
311 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203566
AA Change: T175P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145120
Gene: ENSMUSG00000068566
AA Change: T175P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
25 |
151 |
5.6e-16 |
PFAM |
|
Pfam:MARVEL
|
162 |
311 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203600
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204541
|
| SMART Domains |
Protein: ENSMUSP00000145426
Gene: ENSMUSG00000068566
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
25 |
81 |
4.3e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,862,924 (GRCm39) |
T700A |
possibly damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,250,791 (GRCm39) |
D646G |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 139,962,665 (GRCm39) |
V802A |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,802,691 (GRCm39) |
|
probably null |
Het |
| Il1rap |
A |
C |
16: 26,498,987 (GRCm39) |
N162T |
possibly damaging |
Het |
| Mpdu1 |
T |
C |
11: 69,548,151 (GRCm39) |
T208A |
probably damaging |
Het |
| Mrpl51 |
T |
C |
6: 125,169,566 (GRCm39) |
V56A |
probably benign |
Het |
| Nek1 |
C |
A |
8: 61,577,166 (GRCm39) |
T1077K |
possibly damaging |
Het |
| Or5w20 |
A |
G |
2: 87,727,265 (GRCm39) |
T249A |
probably benign |
Het |
| Pcnt |
G |
A |
10: 76,258,738 (GRCm39) |
Q576* |
probably null |
Het |
| Pramel26 |
T |
C |
4: 143,538,216 (GRCm39) |
T252A |
possibly damaging |
Het |
| Tchhl1 |
A |
T |
3: 93,377,623 (GRCm39) |
D109V |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,428,399 (GRCm39) |
P848S |
probably benign |
Het |
| Ttc4 |
T |
C |
4: 106,528,845 (GRCm39) |
I209M |
probably benign |
Het |
| Zfp536 |
A |
T |
7: 37,267,315 (GRCm39) |
S700R |
probably damaging |
Het |
|
| Other mutations in Myadm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Myadm
|
APN |
7 |
3,345,739 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03342:Myadm
|
APN |
7 |
3,345,403 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0005:Myadm
|
UTSW |
7 |
3,346,080 (GRCm39) |
nonsense |
probably null |
|
|
R0269:Myadm
|
UTSW |
7 |
3,345,273 (GRCm39) |
missense |
unknown |
|
|
R0413:Myadm
|
UTSW |
7 |
3,345,276 (GRCm39) |
frame shift |
probably null |
|
|
R0414:Myadm
|
UTSW |
7 |
3,345,276 (GRCm39) |
frame shift |
probably null |
|
|
R0666:Myadm
|
UTSW |
7 |
3,345,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3036:Myadm
|
UTSW |
7 |
3,346,059 (GRCm39) |
missense |
probably benign |
|
|
R4275:Myadm
|
UTSW |
7 |
3,345,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4606:Myadm
|
UTSW |
7 |
3,345,916 (GRCm39) |
nonsense |
probably null |
|
|
R5764:Myadm
|
UTSW |
7 |
3,345,768 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6558:Myadm
|
UTSW |
7 |
3,345,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Myadm
|
UTSW |
7 |
3,346,192 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8933:Myadm
|
UTSW |
7 |
3,345,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation