Incidental Mutation 'IGL02109:Tmem209'
| ID |
281156 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem209
|
| Ensembl Gene |
ENSMUSG00000029782 |
| Gene Name |
transmembrane protein 209 |
| Synonyms |
2700094F01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.687)
|
| Stock # |
IGL02109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
30480806-30509786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30497944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 117
(Y117C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064330]
[ENSMUST00000102991]
[ENSMUST00000115157]
[ENSMUST00000115160]
[ENSMUST00000138823]
[ENSMUST00000151187]
[ENSMUST00000154547]
[ENSMUST00000222934]
|
| AlphaFold |
Q8BRG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064330
AA Change: Y275C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: Y275C
| 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 damaging
Transcript: ENSMUST00000102991
AA Change: Y275C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: Y275C
| 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 damaging
Transcript: ENSMUST00000115157
AA Change: Y274C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: Y274C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
4 |
560 |
4.8e-209 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115160
AA Change: Y275C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: Y275C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
6 |
560 |
6.4e-159 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138823
AA Change: Y275C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: Y275C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
5 |
560 |
1.2e-205 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151187
AA Change: Y117C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
AA Change: Y117C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
1 |
403 |
1.5e-160 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154547
|
| SMART Domains |
Protein: ENSMUSP00000145248
Gene: ENSMUSG00000029782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222934
AA Change: Y117C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
T |
A |
8: 23,586,200 (GRCm39) |
N427K |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,090,408 (GRCm39) |
E302K |
probably damaging |
Het |
| Arl3 |
T |
A |
19: 46,530,785 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,314,934 (GRCm39) |
E229D |
probably benign |
Het |
| Ctbp1 |
T |
C |
5: 33,424,312 (GRCm39) |
D26G |
probably damaging |
Het |
| Flt3 |
G |
T |
5: 147,287,491 (GRCm39) |
H671N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,848,382 (GRCm39) |
D1799G |
probably benign |
Het |
| Il20ra |
G |
A |
10: 19,635,253 (GRCm39) |
G498D |
possibly damaging |
Het |
| Kcnu1 |
T |
G |
8: 26,427,727 (GRCm39) |
L348R |
possibly damaging |
Het |
| Lrpprc |
A |
T |
17: 85,033,998 (GRCm39) |
L999* |
probably null |
Het |
| Myt1 |
T |
G |
2: 181,457,410 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
C |
T |
5: 65,955,477 (GRCm39) |
T467M |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,832,693 (GRCm39) |
T355A |
probably benign |
Het |
| Ocstamp |
A |
T |
2: 165,239,256 (GRCm39) |
V310E |
possibly damaging |
Het |
| Or4k39 |
T |
G |
2: 111,238,838 (GRCm39) |
|
noncoding transcript |
Het |
| Or8b3 |
T |
C |
9: 38,314,382 (GRCm39) |
F71L |
possibly damaging |
Het |
| Plcb1 |
C |
A |
2: 134,628,479 (GRCm39) |
H9Q |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,192,576 (GRCm39) |
Q795L |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,568 (GRCm39) |
S324P |
probably damaging |
Het |
| Pnldc1 |
G |
T |
17: 13,124,425 (GRCm39) |
H143Q |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,800,543 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,779,502 (GRCm39) |
F250L |
probably benign |
Het |
| Scgn |
T |
C |
13: 24,137,948 (GRCm39) |
D241G |
possibly damaging |
Het |
| St8sia4 |
T |
C |
1: 95,588,617 (GRCm39) |
I73V |
possibly damaging |
Het |
| Tle3 |
T |
A |
9: 61,320,332 (GRCm39) |
C595S |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,504,766 (GRCm39) |
I568N |
probably damaging |
Het |
| Ttll10 |
C |
T |
4: 156,131,937 (GRCm39) |
D22N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,202 (GRCm39) |
V13802E |
probably damaging |
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 |
|
|
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 |
|
R6153:Tmem209
|
UTSW |
6 |
30,505,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation