Incidental Mutation 'R6348:Tmem210'
ID |
514432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem210
|
Ensembl Gene |
ENSMUSG00000026963 |
Gene Name |
transmembrane protein 210 |
Synonyms |
4930571C24Rik |
MMRRC Submission |
044502-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R6348 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25178157-25179201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25178796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 82
(S82P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028335]
[ENSMUST00000028337]
[ENSMUST00000028340]
[ENSMUST00000028341]
[ENSMUST00000114307]
[ENSMUST00000114308]
[ENSMUST00000114314]
[ENSMUST00000114317]
[ENSMUST00000114312]
[ENSMUST00000114318]
[ENSMUST00000114310]
|
AlphaFold |
Q9D2F0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028335
|
SMART Domains |
Protein: ENSMUSP00000028335 Gene: ENSMUSG00000026959
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
38 |
357 |
6.6e-35 |
PFAM |
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
Pfam:CaM_bdg_C0
|
835 |
863 |
1.5e-18 |
PFAM |
PDB:3BYA|B
|
875 |
898 |
4e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028337
|
SMART Domains |
Protein: ENSMUSP00000028337 Gene: ENSMUSG00000026961
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
LRRNT
|
42 |
75 |
1.86e0 |
SMART |
LRR
|
72 |
93 |
7.57e0 |
SMART |
LRR
|
95 |
117 |
6.96e0 |
SMART |
LRR_TYP
|
118 |
141 |
1e-5 |
SMART |
LRR
|
142 |
165 |
6.22e0 |
SMART |
LRR
|
166 |
189 |
2.86e-1 |
SMART |
LRRCT
|
201 |
254 |
3.01e-5 |
SMART |
transmembrane domain
|
267 |
289 |
N/A |
INTRINSIC |
low complexity region
|
293 |
308 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028340
AA Change: S82P
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000028340 Gene: ENSMUSG00000026963 AA Change: S82P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
Pfam:TMEM210
|
32 |
144 |
1.1e-65 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028341
|
SMART Domains |
Protein: ENSMUSP00000028341 Gene: ENSMUSG00000026965
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
low complexity region
|
123 |
133 |
N/A |
INTRINSIC |
low complexity region
|
153 |
164 |
N/A |
INTRINSIC |
low complexity region
|
221 |
229 |
N/A |
INTRINSIC |
low complexity region
|
456 |
467 |
N/A |
INTRINSIC |
CULLIN
|
515 |
663 |
6.72e-9 |
SMART |
APC2
|
772 |
832 |
3.67e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114307
|
SMART Domains |
Protein: ENSMUSP00000109946 Gene: ENSMUSG00000026959
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
38 |
357 |
1e-34 |
PFAM |
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
Pfam:CaM_bdg_C0
|
835 |
863 |
3.2e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114308
|
SMART Domains |
Protein: ENSMUSP00000109947 Gene: ENSMUSG00000026959
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
38 |
378 |
8e-31 |
PFAM |
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
Pfam:CaM_bdg_C0
|
856 |
884 |
3.3e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114314
|
SMART Domains |
Protein: ENSMUSP00000109953 Gene: ENSMUSG00000026959
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
38 |
357 |
1.1e-34 |
PFAM |
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
Pfam:CaM_bdg_C0
|
835 |
863 |
3.3e-19 |
PFAM |
PDB:3BYA|B
|
875 |
898 |
4e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114317
|
SMART Domains |
Protein: ENSMUSP00000109956 Gene: ENSMUSG00000026959
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
38 |
378 |
7.7e-31 |
PFAM |
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
Pfam:CaM_bdg_C0
|
856 |
884 |
3.3e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144102
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129723
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114312
|
SMART Domains |
Protein: ENSMUSP00000109951 Gene: ENSMUSG00000026959
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
38 |
357 |
5.9e-35 |
PFAM |
PBPe
|
433 |
795 |
2.71e-97 |
SMART |
Lig_chan-Glu_bd
|
439 |
507 |
2.99e-18 |
SMART |
Pfam:CaM_bdg_C0
|
835 |
863 |
1.4e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114318
|
SMART Domains |
Protein: ENSMUSP00000109957 Gene: ENSMUSG00000026959
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
38 |
378 |
8.4e-31 |
PFAM |
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
Pfam:CaM_bdg_C0
|
856 |
884 |
3.4e-19 |
PFAM |
PDB:3BYA|B
|
896 |
919 |
4e-6 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135426
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114310
|
SMART Domains |
Protein: ENSMUSP00000109949 Gene: ENSMUSG00000026959
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
39 |
299 |
3.6e-24 |
PFAM |
Blast:PBPe
|
352 |
420 |
9e-37 |
BLAST |
PBPe
|
454 |
816 |
2.71e-97 |
SMART |
Lig_chan-Glu_bd
|
460 |
528 |
2.99e-18 |
SMART |
Pfam:CaM_bdg_C0
|
856 |
884 |
8.4e-17 |
PFAM |
PDB:3BYA|B
|
896 |
919 |
4e-6 |
PDB |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
Arhgef16 |
G |
T |
4: 154,371,540 (GRCm39) |
Q218K |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
probably benign |
Het |
|
Other mutations in Tmem210 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02651:Tmem210
|
APN |
2 |
25,179,101 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0135:Tmem210
|
UTSW |
2 |
25,178,480 (GRCm39) |
missense |
probably damaging |
0.99 |
R1758:Tmem210
|
UTSW |
2 |
25,178,435 (GRCm39) |
missense |
probably damaging |
0.96 |
R3837:Tmem210
|
UTSW |
2 |
25,178,444 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3838:Tmem210
|
UTSW |
2 |
25,178,444 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6170:Tmem210
|
UTSW |
2 |
25,178,776 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6349:Tmem210
|
UTSW |
2 |
25,179,048 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- TACTGACCCTGGGCTGTTAGTC -3'
(R):5'- GGTCTATGCGATCTTCCTGGAC -3'
Sequencing Primer
(F):5'- CATGCTTTGAGGGGCCTC -3'
(R):5'- GCGATCTTCCTGGACTCCGTAG -3'
|
Posted On |
2018-04-27 |