Incidental Mutation 'R6491:Mtdh'
ID |
522897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtdh
|
Ensembl Gene |
ENSMUSG00000022255 |
Gene Name |
metadherin |
Synonyms |
D8Bwg1112e, 2610103J23Rik, AEG-1, 3D3/Lyric, Lyric |
MMRRC Submission |
044623-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6491 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
34082613-34143683 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 34116473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 17
(N17K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022865]
[ENSMUST00000168991]
[ENSMUST00000169905]
|
AlphaFold |
Q80WJ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022865
AA Change: N253K
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022865 Gene: ENSMUSG00000022255 AA Change: N253K
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: N162K
|
SMART Domains |
Protein: ENSMUSP00000130190 Gene: ENSMUSG00000022255 AA Change: N162K
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 benign
Transcript: ENSMUST00000168991
|
SMART Domains |
Protein: ENSMUSP00000129500 Gene: ENSMUSG00000022255
Domain | Start | End | E-Value | Type |
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
low complexity region
|
111 |
127 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169905
AA Change: N17K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131814 Gene: ENSMUSG00000022255 AA Change: N17K
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 |
unknown
Transcript: ENSMUST00000170553
AA Change: N98K
|
SMART Domains |
Protein: ENSMUSP00000126167 Gene: ENSMUSG00000022255 AA Change: N98K
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: ENSMUST00000172083
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226331
|
Meta Mutation Damage Score |
0.1914 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCAATTCCCTGTGAACATGTG -3'
(R):5'- CGAGTGTGAATGATCTTCCTTTTC -3'
Sequencing Primer
(F):5'- CCCTGTGAACATGTGAAATATGTTG -3'
(R):5'- TTTTCCATTTTTCAAATTCTCTGGAC -3'
|
Posted On |
2018-06-06 |