Incidental Mutation 'R0333:Mtdh'
| ID |
38356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtdh
|
| Ensembl Gene |
ENSMUSG00000022255 |
| Gene Name |
metadherin |
| Synonyms |
D8Bwg1112e, 2610103J23Rik, AEG-1, 3D3/Lyric, Lyric |
| MMRRC Submission |
038542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
34082613-34143683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34118247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 344
(S344P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022865]
[ENSMUST00000168991]
[ENSMUST00000169905]
|
| AlphaFold |
Q80WJ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022865
AA Change: S344P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022865
Gene: ENSMUSG00000022255
AA Change: S344P
| 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: S253P
|
| SMART Domains |
Protein: ENSMUSP00000130190
Gene: ENSMUSG00000022255
AA Change: S253P
| 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 benign
Transcript: ENSMUST00000169905
AA Change: S108P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000131814
Gene: ENSMUSG00000022255
AA Change: S108P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170050
AA Change: S227P
|
| SMART Domains |
Protein: ENSMUSP00000128288
Gene: ENSMUSG00000022255
AA Change: S227P
| 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: S189P
|
| SMART Domains |
Protein: ENSMUSP00000126167
Gene: ENSMUSG00000022255
AA Change: S189P
| 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 |
0.0586 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alas1 |
T |
C |
9: 106,118,480 (GRCm39) |
N214S |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,165,820 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,185,818 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
G |
14: 59,737,060 (GRCm39) |
E60G |
probably damaging |
Het |
| Cdc5l |
G |
T |
17: 45,704,142 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
T |
C |
5: 121,998,671 (GRCm39) |
E1423G |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,512 (GRCm39) |
Q165K |
probably damaging |
Het |
| Drd1 |
C |
A |
13: 54,208,082 (GRCm39) |
C37F |
probably damaging |
Het |
| Elp3 |
G |
A |
14: 65,828,042 (GRCm39) |
P11L |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,314,777 (GRCm39) |
Y167H |
probably damaging |
Het |
| Gimap3 |
G |
A |
6: 48,742,664 (GRCm39) |
Q89* |
probably null |
Het |
| H2ac25 |
C |
A |
11: 58,845,685 (GRCm39) |
S41* |
probably null |
Het |
| Herc1 |
G |
A |
9: 66,371,981 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,007,271 (GRCm39) |
V603A |
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,624,833 (GRCm39) |
A130T |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,664,241 (GRCm39) |
Y530C |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,699,186 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,960,600 (GRCm39) |
L778M |
probably damaging |
Het |
| Ncoa3 |
T |
G |
2: 165,896,211 (GRCm39) |
N371K |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,111,408 (GRCm39) |
|
probably benign |
Het |
| Nrn1l |
A |
G |
8: 106,621,052 (GRCm39) |
E48G |
probably benign |
Het |
| Nudcd1 |
A |
G |
15: 44,264,683 (GRCm39) |
I271T |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,593 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,498 (GRCm38) |
L129P |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,269,371 (GRCm39) |
N653S |
probably benign |
Het |
| Plekhg1 |
A |
C |
10: 3,914,419 (GRCm39) |
K1380N |
probably damaging |
Het |
| Ppara |
T |
A |
15: 85,675,161 (GRCm39) |
I210N |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,279,077 (GRCm39) |
|
probably benign |
Het |
| Prkn |
T |
C |
17: 11,286,027 (GRCm39) |
F6L |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,337 (GRCm39) |
L1386P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,829,685 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,240 (GRCm39) |
L2563I |
probably damaging |
Het |
| Rps7 |
A |
G |
12: 28,681,200 (GRCm39) |
|
probably benign |
Het |
| Rslcan18 |
T |
C |
13: 67,246,686 (GRCm39) |
K309E |
probably damaging |
Het |
| Sec14l5 |
C |
T |
16: 4,984,930 (GRCm39) |
T92M |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,585,514 (GRCm39) |
|
probably benign |
Het |
| Smad2 |
G |
A |
18: 76,395,692 (GRCm39) |
A44T |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,671,048 (GRCm39) |
V732A |
possibly damaging |
Het |
| Spata2l |
A |
G |
8: 123,960,371 (GRCm39) |
F306S |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,677,491 (GRCm39) |
D2552G |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,595,711 (GRCm39) |
L358H |
possibly damaging |
Het |
| Tk2 |
C |
T |
8: 104,975,146 (GRCm39) |
|
probably benign |
Het |
| Tm6sf2 |
C |
T |
8: 70,530,564 (GRCm39) |
R215C |
probably damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,304,555 (GRCm39) |
I204T |
probably damaging |
Het |
| Tubgcp2 |
C |
A |
7: 139,579,260 (GRCm39) |
W675C |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,321,794 (GRCm39) |
I62N |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,491 (GRCm39) |
T716A |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,879,949 (GRCm39) |
T3008K |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,905,124 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATCTTACTGTCAATGGAGGAGGCTG -3'
(R):5'- GCATGGCAAGACTAGTATTTCTTTGCG -3'
Sequencing Primer
(F):5'- GGAGTGAAAAGTCTGTAAAACTCTC -3'
(R):5'- gtctgtctgtctgtctgtctg -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation