Incidental Mutation 'IGL01727:Mtdh'
| ID |
105337 |
| 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 # |
IGL01727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
34082613-34143683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34083255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 25
(L25R)
|
| 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: L25R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: L25R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LYRIC
|
6 |
420 |
1e-143 |
PFAM |
|
low complexity region
|
438 |
448 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000163697
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168991
AA Change: L25R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129500
Gene: ENSMUSG00000022255
AA Change: L25R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
127 |
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 |
probably benign
Transcript: ENSMUST00000170553
|
| SMART Domains |
Protein: ENSMUSP00000126167
Gene: ENSMUSG00000022255
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
| Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
| Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
| Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
| Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
| Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
| Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
| Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
| Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
| Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
| Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
| Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
| Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
| Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
| Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
| Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
Het |
|
| Other mutations in Mtdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation