Incidental Mutation 'R3827:Tmem203'
ID |
273793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem203
|
Ensembl Gene |
ENSMUSG00000078201 |
Gene Name |
transmembrane protein 203 |
Synonyms |
C730025P13Rik |
MMRRC Submission |
040775-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3827 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
25145451-25146304 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25146018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 113
(W113R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100329]
[ENSMUST00000104998]
[ENSMUST00000114349]
[ENSMUST00000132128]
[ENSMUST00000148589]
[ENSMUST00000147866]
[ENSMUST00000228052]
|
AlphaFold |
Q8R235 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100329
|
SMART Domains |
Protein: ENSMUSP00000097903 Gene: ENSMUSG00000006471
Domain | Start | End | E-Value | Type |
Pfam:Flavodoxin_1
|
8 |
124 |
2.3e-23 |
PFAM |
Pfam:FAD_binding_1
|
134 |
354 |
8e-50 |
PFAM |
Pfam:NAD_binding_1
|
389 |
495 |
2.1e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000104998
AA Change: W113R
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000100614 Gene: ENSMUSG00000078201 AA Change: W113R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
79 |
101 |
N/A |
INTRINSIC |
transmembrane domain
|
111 |
130 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114349
|
SMART Domains |
Protein: ENSMUSP00000109989 Gene: ENSMUSG00000006471
Domain | Start | End | E-Value | Type |
Pfam:Flavodoxin_1
|
8 |
145 |
2.3e-32 |
PFAM |
Pfam:FAD_binding_1
|
201 |
421 |
2e-48 |
PFAM |
Pfam:NAD_binding_1
|
456 |
561 |
1.7e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132128
|
SMART Domains |
Protein: ENSMUSP00000125018 Gene: ENSMUSG00000006471
Domain | Start | End | E-Value | Type |
PDB:4H2D|B
|
1 |
48 |
2e-9 |
PDB |
SCOP:d1f4pa_
|
4 |
57 |
4e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137355
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141808
|
SMART Domains |
Protein: ENSMUSP00000123247 Gene: ENSMUSG00000006471
Domain | Start | End | E-Value | Type |
Pfam:Flavodoxin_1
|
7 |
120 |
8.1e-25 |
PFAM |
Pfam:FAD_binding_1
|
167 |
225 |
9.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148589
|
SMART Domains |
Protein: ENSMUSP00000123958 Gene: ENSMUSG00000006471
Domain | Start | End | E-Value | Type |
PDB:4H2D|B
|
1 |
49 |
7e-10 |
PDB |
SCOP:d1f4pa_
|
4 |
45 |
3e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147866
|
SMART Domains |
Protein: ENSMUSP00000125259 Gene: ENSMUSG00000006471
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
low complexity region
|
64 |
73 |
N/A |
INTRINSIC |
Pfam:Flavodoxin_1
|
93 |
196 |
4.2e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228052
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, abnormal calcium homeostasis, arreasted spermiation, azoospermia, male infertility and reduced total litter numbers in female mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,110,467 (GRCm39) |
N878S |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,045,409 (GRCm39) |
D342N |
probably benign |
Het |
Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
Dpp10 |
G |
A |
1: 123,339,519 (GRCm39) |
T336I |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,125,741 (GRCm39) |
S625P |
possibly damaging |
Het |
Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
Gab2 |
T |
A |
7: 96,872,948 (GRCm39) |
I117N |
probably damaging |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gper1 |
T |
C |
5: 139,412,755 (GRCm39) |
S367P |
probably benign |
Het |
Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
H2-Q6 |
A |
T |
17: 35,644,655 (GRCm39) |
N148I |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,090,732 (GRCm39) |
|
probably null |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
Or52e19 |
T |
A |
7: 102,959,009 (GRCm39) |
I27N |
probably benign |
Het |
Paip1 |
T |
A |
13: 119,566,768 (GRCm39) |
M1K |
probably null |
Het |
Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
Skint6 |
G |
T |
4: 112,794,634 (GRCm39) |
L712I |
probably benign |
Het |
Slc35a4 |
C |
A |
18: 36,816,041 (GRCm39) |
N290K |
probably damaging |
Het |
Slco1a5 |
T |
A |
6: 142,198,975 (GRCm39) |
D230V |
probably damaging |
Het |
Sox21 |
C |
T |
14: 118,472,870 (GRCm39) |
E60K |
possibly damaging |
Het |
Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Sulf1 |
G |
A |
1: 12,887,656 (GRCm39) |
V277I |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,033,805 (GRCm39) |
R3685G |
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,914,787 (GRCm39) |
V784E |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,548 (GRCm39) |
T56A |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
|
Other mutations in Tmem203 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01073:Tmem203
|
APN |
2 |
25,145,736 (GRCm39) |
missense |
probably benign |
|
R1794:Tmem203
|
UTSW |
2 |
25,146,006 (GRCm39) |
missense |
probably benign |
|
R3897:Tmem203
|
UTSW |
2 |
25,145,935 (GRCm39) |
missense |
probably benign |
0.17 |
R4747:Tmem203
|
UTSW |
2 |
25,145,764 (GRCm39) |
missense |
probably benign |
0.01 |
R5735:Tmem203
|
UTSW |
2 |
25,146,085 (GRCm39) |
missense |
probably benign |
0.10 |
R6627:Tmem203
|
UTSW |
2 |
25,145,785 (GRCm39) |
splice site |
probably null |
|
R7555:Tmem203
|
UTSW |
2 |
25,145,742 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTCCTGGTGGAACGTCTTTG -3'
(R):5'- GCACAAGCAAACACTGATTTCTG -3'
Sequencing Primer
(F):5'- TGGAACGTCTTTGTGCCC -3'
(R):5'- TGATTTCTGACCAAAGCTCCAC -3'
|
Posted On |
2015-04-02 |