Incidental Mutation 'IGL01772:Mtdh'
| ID |
153686 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtdh
|
| Ensembl Gene |
ENSMUSG00000022255 |
| Gene Name |
metadherin |
| Synonyms |
D8Bwg1112e, 2610103J23Rik, AEG-1, 3D3/Lyric, Lyric |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
34082613-34143683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34140027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 345
(S345R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022865]
[ENSMUST00000169905]
|
| AlphaFold |
Q80WJ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022865
AA Change: S551R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: S551R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LYRIC
|
6 |
420 |
1e-143 |
PFAM |
|
low complexity region
|
438 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163333
|
| SMART Domains |
Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LYRIC
|
4 |
256 |
2.3e-70 |
PFAM |
|
Pfam:LYRIC
|
250 |
297 |
4.4e-13 |
PFAM |
|
low complexity region
|
315 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169905
AA Change: S345R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131814
Gene: ENSMUSG00000022255
AA Change: S345R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170050
|
| SMART Domains |
Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LYRIC
|
3 |
304 |
4.2e-90 |
PFAM |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226992
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with decreased incidence of tumors by chemical induction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
T |
11: 58,313,710 (GRCm39) |
P113S |
probably benign |
Het |
| Ano2 |
T |
C |
6: 126,013,821 (GRCm39) |
Y881H |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,333,090 (GRCm39) |
P131T |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,542,090 (GRCm39) |
I278V |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,507,890 (GRCm39) |
D392G |
probably benign |
Het |
| Ifrd2 |
A |
G |
9: 107,469,331 (GRCm39) |
S360G |
probably benign |
Het |
| Kdelr3 |
A |
T |
15: 79,407,121 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
G |
13: 113,027,859 (GRCm39) |
F667S |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,240,173 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,281,075 (GRCm39) |
V110D |
probably damaging |
Het |
| Nlk |
T |
A |
11: 78,480,201 (GRCm39) |
H256L |
probably damaging |
Het |
| Or52w1 |
A |
T |
7: 105,017,641 (GRCm39) |
D36V |
probably benign |
Het |
| Or52z13 |
T |
A |
7: 103,247,120 (GRCm39) |
I199N |
probably benign |
Het |
| Or8c16 |
A |
T |
9: 38,130,905 (GRCm39) |
Y262F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,946,637 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,228,914 (GRCm39) |
Y834H |
probably damaging |
Het |
| Rbfox3 |
G |
T |
11: 118,387,797 (GRCm39) |
A241E |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,173,970 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,055 (GRCm39) |
D19619E |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,967,358 (GRCm39) |
E45D |
possibly damaging |
Het |
| Vil1 |
A |
G |
1: 74,454,278 (GRCm39) |
I14V |
probably benign |
Het |
|
| Other mutations in Mtdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01727:Mtdh
|
APN |
15 |
34,083,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Mtdh
|
APN |
15 |
34,131,396 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02392:Mtdh
|
APN |
15 |
34,099,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03052:Mtdh
|
UTSW |
15 |
34,140,876 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0062:Mtdh
|
UTSW |
15 |
34,134,426 (GRCm39) |
splice site |
probably benign |
|
|
R0333:Mtdh
|
UTSW |
15 |
34,118,247 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0791:Mtdh
|
UTSW |
15 |
34,116,528 (GRCm39) |
splice site |
probably benign |
|
|
R1472:Mtdh
|
UTSW |
15 |
34,114,191 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1713:Mtdh
|
UTSW |
15 |
34,114,985 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3605:Mtdh
|
UTSW |
15 |
34,114,258 (GRCm39) |
splice site |
probably benign |
|
|
R4626:Mtdh
|
UTSW |
15 |
34,114,980 (GRCm39) |
nonsense |
probably null |
|
|
R4957:Mtdh
|
UTSW |
15 |
34,083,281 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5196:Mtdh
|
UTSW |
15 |
34,118,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5977:Mtdh
|
UTSW |
15 |
34,099,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6491:Mtdh
|
UTSW |
15 |
34,116,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Mtdh
|
UTSW |
15 |
34,136,867 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7049:Mtdh
|
UTSW |
15 |
34,131,311 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7899:Mtdh
|
UTSW |
15 |
34,123,865 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9787:Mtdh
|
UTSW |
15 |
34,123,844 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2014-02-04 |
Incidental Mutation