Incidental Mutation 'R6153:Tmem209'
ID |
489379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem209
|
Ensembl Gene |
ENSMUSG00000029782 |
Gene Name |
transmembrane protein 209 |
Synonyms |
2700094F01Rik |
MMRRC Submission |
044300-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.674)
|
Stock # |
R6153 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
30480806-30509786 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30505794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 171
(S171P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138292
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031797]
[ENSMUST00000064330]
[ENSMUST00000102991]
[ENSMUST00000115157]
[ENSMUST00000115160]
[ENSMUST00000138823]
[ENSMUST00000148638]
[ENSMUST00000151187]
[ENSMUST00000154547]
[ENSMUST00000222934]
|
AlphaFold |
Q8BRG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031797
|
SMART Domains |
Protein: ENSMUSP00000031797 Gene: ENSMUSG00000029784
Domain | Start | End | E-Value | Type |
Pfam:DUF4636
|
1 |
195 |
3.5e-100 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064330
AA Change: S171P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000067667 Gene: ENSMUSG00000029782 AA Change: S171P
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
5 |
343 |
4.1e-88 |
PFAM |
Pfam:CytochromB561_N
|
341 |
438 |
2.2e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102991
AA Change: S171P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000100056 Gene: ENSMUSG00000029782 AA Change: S171P
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
5 |
376 |
5.2e-107 |
PFAM |
Pfam:CytochromB561_N
|
372 |
519 |
3.1e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115157
AA Change: S170P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000110810 Gene: ENSMUSG00000029782 AA Change: S170P
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
4 |
560 |
4.8e-209 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115160
AA Change: S171P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000110813 Gene: ENSMUSG00000029782 AA Change: S171P
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
6 |
560 |
6.4e-159 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138823
AA Change: S171P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000138292 Gene: ENSMUSG00000029782 AA Change: S171P
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
5 |
560 |
1.2e-205 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148638
AA Change: S127P
|
SMART Domains |
Protein: ENSMUSP00000115567 Gene: ENSMUSG00000029782 AA Change: S127P
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
4 |
71 |
1.3e-15 |
PFAM |
Pfam:CytochromB561_N
|
67 |
139 |
1.4e-8 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151187
AA Change: S13P
|
SMART Domains |
Protein: ENSMUSP00000138232 Gene: ENSMUSG00000029782 AA Change: S13P
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
1 |
403 |
1.5e-160 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154547
AA Change: S13P
|
SMART Domains |
Protein: ENSMUSP00000145248 Gene: ENSMUSG00000029782 AA Change: S13P
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150480
|
Predicted Effect |
unknown
Transcript: ENSMUST00000222934
AA Change: S13P
|
Meta Mutation Damage Score |
0.0726 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,251,259 (GRCm39) |
|
probably null |
Het |
Ache |
T |
C |
5: 137,290,117 (GRCm39) |
I394T |
probably damaging |
Het |
Acsm1 |
G |
A |
7: 119,232,289 (GRCm39) |
G62D |
probably damaging |
Het |
Actrt3 |
T |
A |
3: 30,653,899 (GRCm39) |
I34F |
probably damaging |
Het |
Adgrf5 |
T |
C |
17: 43,761,974 (GRCm39) |
I1223T |
possibly damaging |
Het |
Adora2a |
T |
C |
10: 75,161,981 (GRCm39) |
F40S |
possibly damaging |
Het |
Ano8 |
T |
C |
8: 71,933,441 (GRCm39) |
|
probably benign |
Het |
Arid1b |
T |
A |
17: 5,293,107 (GRCm39) |
L675Q |
probably damaging |
Het |
Atg2b |
T |
C |
12: 105,589,741 (GRCm39) |
I1837V |
possibly damaging |
Het |
Atp10b |
A |
G |
11: 43,145,109 (GRCm39) |
Y1284C |
probably damaging |
Het |
B3gnt7 |
G |
T |
1: 86,233,237 (GRCm39) |
G44V |
probably damaging |
Het |
Chrna1 |
G |
T |
2: 73,403,653 (GRCm39) |
H99N |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,961,204 (GRCm39) |
H220R |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,965,619 (GRCm39) |
|
probably null |
Het |
Daglb |
T |
C |
5: 143,489,096 (GRCm39) |
L651P |
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,398,974 (GRCm39) |
D231G |
possibly damaging |
Het |
Ehd4 |
A |
C |
2: 119,932,904 (GRCm39) |
F174C |
probably damaging |
Het |
Emsy |
G |
T |
7: 98,260,060 (GRCm39) |
P9T |
probably damaging |
Het |
Fnbp1l |
T |
C |
3: 122,352,805 (GRCm39) |
E217G |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,524 (GRCm39) |
C199S |
unknown |
Het |
Gmps |
T |
G |
3: 63,908,964 (GRCm39) |
C489G |
probably benign |
Het |
Gpsm1 |
T |
C |
2: 26,215,425 (GRCm39) |
Y296H |
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,138,870 (GRCm39) |
T91A |
possibly damaging |
Het |
Hs3st3b1 |
A |
T |
11: 63,780,324 (GRCm39) |
W268R |
probably damaging |
Het |
Il27ra |
T |
C |
8: 84,758,773 (GRCm39) |
|
probably null |
Het |
Itga5 |
T |
A |
15: 103,265,880 (GRCm39) |
I156F |
probably damaging |
Het |
Kcnmb3 |
T |
A |
3: 32,527,976 (GRCm39) |
D96V |
probably damaging |
Het |
Khdrbs1 |
T |
A |
4: 129,609,965 (GRCm39) |
N417Y |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,383,454 (GRCm39) |
N118D |
possibly damaging |
Het |
Mdm4 |
A |
G |
1: 132,919,845 (GRCm39) |
L341P |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,047,797 (GRCm39) |
E225G |
possibly damaging |
Het |
Megf8 |
G |
A |
7: 25,046,796 (GRCm39) |
G1560S |
possibly damaging |
Het |
Mfsd13a |
A |
T |
19: 46,356,321 (GRCm39) |
D142V |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,415,181 (GRCm39) |
Y2709F |
possibly damaging |
Het |
Nelfa |
A |
T |
5: 34,056,223 (GRCm39) |
I480N |
probably damaging |
Het |
Or10ak8 |
G |
A |
4: 118,773,944 (GRCm39) |
S240F |
probably damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Palld |
G |
T |
8: 62,003,186 (GRCm39) |
N304K |
probably damaging |
Het |
Pcsk5 |
A |
G |
19: 17,488,856 (GRCm39) |
L988P |
probably damaging |
Het |
Prmt1 |
A |
T |
7: 44,631,251 (GRCm39) |
F34I |
probably damaging |
Het |
Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
Ralb |
A |
T |
1: 119,405,870 (GRCm39) |
|
probably null |
Het |
Robo2 |
T |
A |
16: 73,717,617 (GRCm39) |
D141V |
probably damaging |
Het |
Rsrc1 |
T |
C |
3: 67,262,895 (GRCm39) |
I283T |
probably benign |
Het |
Sec62 |
A |
T |
3: 30,864,631 (GRCm39) |
K165M |
unknown |
Het |
Sez6 |
A |
G |
11: 77,868,648 (GRCm39) |
D974G |
probably damaging |
Het |
Shc2 |
T |
A |
10: 79,465,752 (GRCm39) |
I187F |
possibly damaging |
Het |
Shroom3 |
G |
A |
5: 93,112,267 (GRCm39) |
R1876Q |
probably damaging |
Het |
Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
Skil |
T |
A |
3: 31,152,002 (GRCm39) |
F175I |
probably damaging |
Het |
Slc1a1 |
T |
C |
19: 28,886,935 (GRCm39) |
V432A |
probably damaging |
Het |
Slit3 |
G |
T |
11: 35,591,310 (GRCm39) |
G1374V |
possibly damaging |
Het |
Snx14 |
T |
C |
9: 88,273,859 (GRCm39) |
Y644C |
probably damaging |
Het |
Snx33 |
T |
A |
9: 56,833,983 (GRCm39) |
I29F |
possibly damaging |
Het |
Sos1 |
T |
A |
17: 80,756,764 (GRCm39) |
I263L |
probably benign |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Tbpl2 |
C |
A |
2: 23,966,028 (GRCm39) |
V320F |
probably damaging |
Het |
Tprkb |
T |
A |
6: 85,893,172 (GRCm39) |
|
probably null |
Het |
Tspan11 |
G |
A |
6: 127,916,061 (GRCm39) |
S119N |
probably benign |
Het |
Ulk2 |
A |
T |
11: 61,672,572 (GRCm39) |
V922D |
probably damaging |
Het |
Zfp267 |
A |
G |
3: 36,219,303 (GRCm39) |
H442R |
possibly damaging |
Het |
Zfp976 |
A |
C |
7: 42,263,610 (GRCm39) |
Y76D |
probably damaging |
Het |
Zkscan2 |
G |
A |
7: 123,088,993 (GRCm39) |
T426I |
probably benign |
Het |
|
Other mutations in Tmem209 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00518:Tmem209
|
APN |
6 |
30,487,416 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01068:Tmem209
|
APN |
6 |
30,502,085 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02106:Tmem209
|
APN |
6 |
30,508,659 (GRCm39) |
splice site |
probably null |
|
IGL02109:Tmem209
|
APN |
6 |
30,497,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02250:Tmem209
|
APN |
6 |
30,487,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R0012:Tmem209
|
UTSW |
6 |
30,502,112 (GRCm39) |
splice site |
probably benign |
|
R0426:Tmem209
|
UTSW |
6 |
30,491,181 (GRCm39) |
missense |
probably damaging |
0.99 |
R0452:Tmem209
|
UTSW |
6 |
30,487,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R0557:Tmem209
|
UTSW |
6 |
30,501,913 (GRCm39) |
missense |
probably damaging |
0.99 |
R0690:Tmem209
|
UTSW |
6 |
30,505,833 (GRCm39) |
missense |
probably null |
1.00 |
R1202:Tmem209
|
UTSW |
6 |
30,508,789 (GRCm39) |
missense |
probably benign |
0.01 |
R1697:Tmem209
|
UTSW |
6 |
30,497,867 (GRCm39) |
missense |
probably benign |
0.00 |
R3821:Tmem209
|
UTSW |
6 |
30,505,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Tmem209
|
UTSW |
6 |
30,501,954 (GRCm39) |
missense |
probably benign |
0.00 |
R5131:Tmem209
|
UTSW |
6 |
30,497,166 (GRCm39) |
missense |
probably benign |
0.00 |
R5715:Tmem209
|
UTSW |
6 |
30,497,922 (GRCm39) |
nonsense |
probably null |
|
R6030:Tmem209
|
UTSW |
6 |
30,482,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R6030:Tmem209
|
UTSW |
6 |
30,482,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R6181:Tmem209
|
UTSW |
6 |
30,505,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R6256:Tmem209
|
UTSW |
6 |
30,497,166 (GRCm39) |
missense |
probably benign |
0.00 |
R6721:Tmem209
|
UTSW |
6 |
30,497,174 (GRCm39) |
missense |
probably benign |
0.00 |
R6873:Tmem209
|
UTSW |
6 |
30,508,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R7062:Tmem209
|
UTSW |
6 |
30,502,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R7341:Tmem209
|
UTSW |
6 |
30,494,794 (GRCm39) |
missense |
probably benign |
0.00 |
R7461:Tmem209
|
UTSW |
6 |
30,508,469 (GRCm39) |
nonsense |
probably null |
|
R7790:Tmem209
|
UTSW |
6 |
30,497,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Tmem209
|
UTSW |
6 |
30,489,308 (GRCm39) |
missense |
probably damaging |
0.97 |
R8454:Tmem209
|
UTSW |
6 |
30,489,308 (GRCm39) |
missense |
probably damaging |
0.97 |
R8527:Tmem209
|
UTSW |
6 |
30,497,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R8542:Tmem209
|
UTSW |
6 |
30,497,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R8889:Tmem209
|
UTSW |
6 |
30,497,942 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8892:Tmem209
|
UTSW |
6 |
30,497,942 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8928:Tmem209
|
UTSW |
6 |
30,489,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R9222:Tmem209
|
UTSW |
6 |
30,506,838 (GRCm39) |
missense |
probably damaging |
0.98 |
RF020:Tmem209
|
UTSW |
6 |
30,487,417 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAAACTTGCTTTCTTTTCTGGC -3'
(R):5'- TCTAGTTGTGCAGACTACACC -3'
Sequencing Primer
(F):5'- CTGGCTCTTCATGGATGATTTAGAC -3'
(R):5'- ACCTCCCCGTGATTTGGCAG -3'
|
Posted On |
2017-10-10 |