Incidental Mutation 'IGL02392:Mtdh'
| ID |
294288 |
| 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 # |
IGL02392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
34082613-34143683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34099723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 158
(N158Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022865]
[ENSMUST00000168991]
|
| AlphaFold |
Q80WJ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022865
AA Change: N158Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: N158Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LYRIC
|
6 |
420 |
1e-143 |
PFAM |
|
low complexity region
|
438 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163333
AA Change: N67Y
|
| SMART Domains |
Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
AA Change: N67Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000163697
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168991
AA Change: N158Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129500
Gene: ENSMUSG00000022255
AA Change: N158Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170050
AA Change: N63Y
|
| SMART Domains |
Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255
AA Change: N63Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LYRIC
|
3 |
304 |
4.2e-90 |
PFAM |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170553
AA Change: N62Y
|
| SMART Domains |
Protein: ENSMUSP00000126167
Gene: ENSMUSG00000022255
AA Change: N62Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LYRIC
|
3 |
106 |
7.7e-28 |
PFAM |
|
Pfam:LYRIC
|
99 |
220 |
3.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172083
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,133,997 (GRCm39) |
N8S |
probably benign |
Het |
| Cdh8 |
G |
A |
8: 99,757,387 (GRCm39) |
T737M |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,711,920 (GRCm39) |
|
probably benign |
Het |
| Cenph |
T |
A |
13: 100,909,269 (GRCm39) |
Q46L |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,277 (GRCm39) |
C1395R |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,037,025 (GRCm39) |
|
probably benign |
Het |
| Dolk |
T |
C |
2: 30,175,740 (GRCm39) |
N102D |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Farp2 |
G |
A |
1: 93,505,372 (GRCm39) |
R368Q |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,996,183 (GRCm39) |
M4K |
probably benign |
Het |
| Fndc8 |
A |
C |
11: 82,789,429 (GRCm39) |
T196P |
probably damaging |
Het |
| Galc |
G |
A |
12: 98,173,672 (GRCm39) |
T630I |
probably damaging |
Het |
| Gm21970 |
T |
G |
16: 91,211,545 (GRCm39) |
S128A |
possibly damaging |
Het |
| Gpr146 |
T |
C |
5: 139,378,533 (GRCm39) |
S112P |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,764,276 (GRCm39) |
S51P |
probably damaging |
Het |
| Htra2 |
G |
T |
6: 83,031,280 (GRCm39) |
T43N |
possibly damaging |
Het |
| Lnpep |
T |
C |
17: 17,799,445 (GRCm39) |
Y70C |
possibly damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Neo1 |
A |
T |
9: 58,833,094 (GRCm39) |
H550Q |
possibly damaging |
Het |
| Or2h1b |
C |
T |
17: 37,461,979 (GRCm39) |
V295I |
probably benign |
Het |
| Or5p57 |
A |
C |
7: 107,665,710 (GRCm39) |
F68L |
probably benign |
Het |
| Pex1 |
C |
T |
5: 3,655,952 (GRCm39) |
Q260* |
probably null |
Het |
| Pex6 |
T |
C |
17: 47,034,425 (GRCm39) |
V758A |
probably damaging |
Het |
| Qsox1 |
T |
C |
1: 155,688,346 (GRCm39) |
E67G |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,848,861 (GRCm39) |
S895N |
probably benign |
Het |
| Rnls |
A |
G |
19: 33,180,012 (GRCm39) |
V28A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,707,494 (GRCm39) |
*934W |
probably null |
Het |
| Spta1 |
A |
T |
1: 174,046,380 (GRCm39) |
M1654L |
probably damaging |
Het |
| Srbd1 |
C |
A |
17: 86,295,801 (GRCm39) |
V870F |
probably benign |
Het |
| Suco |
A |
T |
1: 161,662,136 (GRCm39) |
M765K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,440,178 (GRCm39) |
Y610H |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,945,141 (GRCm39) |
N238S |
probably benign |
Het |
| Them7 |
T |
A |
2: 105,209,220 (GRCm39) |
L180* |
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,621 (GRCm39) |
I285V |
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,601,887 (GRCm39) |
S10265P |
probably damaging |
Het |
| Vgll3 |
A |
T |
16: 65,612,556 (GRCm39) |
Y13F |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,061,731 (GRCm39) |
M544K |
unknown |
Het |
| Ypel1 |
T |
C |
16: 16,906,702 (GRCm39) |
T500A |
probably benign |
Het |
| Zmym1 |
T |
A |
4: 126,942,256 (GRCm39) |
S711C |
probably damaging |
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 |
|
IGL01772:Mtdh
|
APN |
15 |
34,140,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Mtdh
|
APN |
15 |
34,131,396 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2015-04-16 |
Incidental Mutation