Incidental Mutation 'R6558:Myadm'
| ID |
522248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myadm
|
| Ensembl Gene |
ENSMUSG00000068566 |
| Gene Name |
myeloid-associated differentiation marker |
| Synonyms |
D7Wsu62e |
| MMRRC Submission |
044682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3337563-3347871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3345577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 113
(I113N)
|
| 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: I113N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094505
Gene: ENSMUSG00000068566
AA Change: I113N
| 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: I113N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131318
Gene: ENSMUSG00000068566
AA Change: I113N
| 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: I113N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144984
Gene: ENSMUSG00000068566
AA Change: I113N
| 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: I113N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145120
Gene: ENSMUSG00000068566
AA Change: I113N
| 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 |
|
| Meta Mutation Damage Score |
0.3986 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,839,572 (GRCm39) |
V161A |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,960,798 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
C |
6: 18,222,527 (GRCm39) |
I261T |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,748 (GRCm39) |
M391K |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,276,971 (GRCm39) |
L659P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cxcl2 |
T |
C |
5: 91,052,224 (GRCm39) |
L71P |
probably damaging |
Het |
| Cxcl5 |
A |
G |
5: 90,907,677 (GRCm39) |
E83G |
probably damaging |
Het |
| Dpt |
A |
G |
1: 164,624,380 (GRCm39) |
Y27C |
unknown |
Het |
| Drc3 |
A |
T |
11: 60,255,718 (GRCm39) |
I102F |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,876,302 (GRCm39) |
D345G |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,006,347 (GRCm39) |
T516K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,290,288 (GRCm39) |
N7D |
probably benign |
Het |
| Hoxc11 |
T |
C |
15: 102,863,301 (GRCm39) |
L114P |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,640 (GRCm39) |
N5S |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
| Map7d1 |
G |
A |
4: 126,126,702 (GRCm39) |
A798V |
unknown |
Het |
| Mfsd13a |
T |
A |
19: 46,354,917 (GRCm39) |
N31K |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,741,678 (GRCm39) |
E1509G |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,723,919 (GRCm39) |
R382P |
probably benign |
Het |
| Ogfr |
C |
T |
2: 180,237,197 (GRCm39) |
P594L |
possibly damaging |
Het |
| Or2r11 |
T |
A |
6: 42,437,711 (GRCm39) |
M81L |
probably benign |
Het |
| Or5p80 |
T |
A |
7: 108,229,395 (GRCm39) |
H65Q |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,839,052 (GRCm39) |
M877I |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,051,338 (GRCm39) |
S102T |
probably benign |
Het |
| Stoml1 |
T |
A |
9: 58,163,951 (GRCm39) |
V90E |
probably damaging |
Het |
| Stra8 |
G |
A |
6: 34,909,975 (GRCm39) |
W111* |
probably null |
Het |
| Timeless |
T |
A |
10: 128,085,432 (GRCm39) |
V850D |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,495,490 (GRCm39) |
D453V |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,200,708 (GRCm39) |
T1138P |
possibly damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCTAATATCCACCTGTGTG -3'
(R):5'- AAAACTTTGAGCAGCCCTGG -3'
Sequencing Primer
(F):5'- CAGTGTGGGTGCCTGGAC -3'
(R):5'- GCACGGTAGCCATATAGCCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation