Incidental Mutation 'IGL00321:Myadm'
| ID |
13625 |
| 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 # |
IGL00321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3337563-3347871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3345739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 167
(P167Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096744]
[ENSMUST00000164553]
[ENSMUST00000203328]
[ENSMUST00000203566]
[ENSMUST00000204541]
|
| AlphaFold |
O35682 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096744
AA Change: P167Q
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000094505
Gene: ENSMUSG00000068566
AA Change: P167Q
| 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 |
possibly damaging
Transcript: ENSMUST00000164553
AA Change: P167Q
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131318
Gene: ENSMUSG00000068566
AA Change: P167Q
| 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 |
possibly damaging
Transcript: ENSMUST00000203328
AA Change: P167Q
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144984
Gene: ENSMUSG00000068566
AA Change: P167Q
| 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 |
possibly damaging
Transcript: ENSMUST00000203566
AA Change: P167Q
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145120
Gene: ENSMUSG00000068566
AA Change: P167Q
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,418 (GRCm39) |
I602T |
probably benign |
Het |
| Adam39 |
A |
G |
8: 41,279,783 (GRCm39) |
R725G |
possibly damaging |
Het |
| Arid2 |
A |
G |
15: 96,186,970 (GRCm39) |
E74G |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,164,001 (GRCm39) |
|
probably benign |
Het |
| Cit |
A |
T |
5: 115,984,524 (GRCm39) |
Q32L |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,514 (GRCm39) |
T526A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,327,202 (GRCm39) |
E717G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,290,029 (GRCm39) |
I968N |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,296,942 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,489 (GRCm39) |
L543P |
probably benign |
Het |
| Hid1 |
A |
T |
11: 115,249,895 (GRCm39) |
D84E |
probably benign |
Het |
| Ifit1bl2 |
C |
T |
19: 34,597,319 (GRCm39) |
S99N |
probably benign |
Het |
| Kpna3 |
A |
G |
14: 61,629,302 (GRCm39) |
|
probably benign |
Het |
| Ociad1 |
C |
T |
5: 73,461,886 (GRCm39) |
|
probably benign |
Het |
| Or2t43 |
A |
C |
11: 58,457,593 (GRCm39) |
Y193D |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,502,265 (GRCm39) |
K1029N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,026 (GRCm39) |
T119A |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,592,617 (GRCm39) |
R926G |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,353,651 (GRCm39) |
F369S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,100,472 (GRCm39) |
M201K |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,802,235 (GRCm39) |
I795N |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,368,261 (GRCm39) |
W510R |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,968,576 (GRCm39) |
L589P |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,717 (GRCm39) |
D176G |
probably null |
Het |
| Tom1 |
T |
A |
8: 75,778,802 (GRCm39) |
S24T |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,299 (GRCm39) |
Q239L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,040 (GRCm39) |
T149A |
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,651,162 (GRCm39) |
I686T |
probably damaging |
Het |
|
| Other mutations in Myadm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01075:Myadm
|
APN |
7 |
3,345,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-12-06 |
Incidental Mutation