Incidental Mutation 'IGL00487:Mak16'
| ID |
5048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mak16
|
| Ensembl Gene |
ENSMUSG00000031578 |
| Gene Name |
MAK16 homolog |
| Synonyms |
Rbm13, 2600016B03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
IGL00487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
31649496-31658752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31656778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 9
(N9D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033983]
[ENSMUST00000098842]
[ENSMUST00000209986]
[ENSMUST00000210129]
|
| AlphaFold |
Q8BGS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033983
AA Change: N9D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: N9D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L28e
|
6 |
119 |
5e-40 |
PFAM |
|
Pfam:Mak16
|
138 |
235 |
4.7e-36 |
PFAM |
|
low complexity region
|
242 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098842
|
| SMART Domains |
Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2454
|
208 |
397 |
7.1e-17 |
PFAM |
|
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210450
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,200,276 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
G |
5: 123,412,240 (GRCm39) |
I84S |
probably damaging |
Het |
| Dusp23 |
T |
C |
1: 172,459,199 (GRCm39) |
|
probably benign |
Het |
| Invs |
C |
T |
4: 48,407,689 (GRCm39) |
Q555* |
probably null |
Het |
| Mrps7 |
T |
C |
11: 115,495,684 (GRCm39) |
I74T |
possibly damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,149,410 (GRCm39) |
V339G |
possibly damaging |
Het |
| Nucb1 |
A |
G |
7: 45,151,075 (GRCm39) |
L102P |
probably damaging |
Het |
| Pdp2 |
T |
C |
8: 105,320,829 (GRCm39) |
M226T |
probably benign |
Het |
| Pik3r2 |
T |
C |
8: 71,223,073 (GRCm39) |
D449G |
probably damaging |
Het |
| Rnf157 |
G |
A |
11: 116,253,181 (GRCm39) |
P76S |
probably benign |
Het |
| Senp6 |
C |
A |
9: 80,021,120 (GRCm39) |
Q267K |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,781,818 (GRCm39) |
E349G |
probably damaging |
Het |
| Snx14 |
G |
T |
9: 88,284,243 (GRCm39) |
S475Y |
probably damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,651,948 (GRCm39) |
H37L |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,921,002 (GRCm39) |
H1371L |
probably benign |
Het |
|
| Other mutations in Mak16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02071:Mak16
|
APN |
8 |
31,650,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02457:Mak16
|
APN |
8 |
31,654,753 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02486:Mak16
|
APN |
8 |
31,650,614 (GRCm39) |
intron |
probably benign |
|
|
FR4342:Mak16
|
UTSW |
8 |
31,651,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4527:Mak16
|
UTSW |
8 |
31,656,205 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Mak16
|
UTSW |
8 |
31,656,161 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7178:Mak16
|
UTSW |
8 |
31,656,602 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7315:Mak16
|
UTSW |
8 |
31,654,766 (GRCm39) |
nonsense |
probably null |
|
|
R7366:Mak16
|
UTSW |
8 |
31,656,127 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8311:Mak16
|
UTSW |
8 |
31,658,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Mak16
|
UTSW |
8 |
31,650,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9690:Mak16
|
UTSW |
8 |
31,650,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mak16
|
UTSW |
8 |
31,656,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation