Incidental Mutation 'R5131:Tmem209'
| ID |
475453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem209
|
| Ensembl Gene |
ENSMUSG00000029782 |
| Gene Name |
transmembrane protein 209 |
| Synonyms |
2700094F01Rik |
| MMRRC Submission |
042719-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.674)
|
| Stock # |
R5131 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
30480806-30509786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30497166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 183
(N183K)
|
| 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 benign
Transcript: ENSMUST00000064330
AA Change: N341K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: N341K
| 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: N341K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: N341K
| 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: N340K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: N340K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
4 |
560 |
4.8e-209 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115160
AA Change: N341K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: N341K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
6 |
560 |
6.4e-159 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138823
AA Change: N341K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: N341K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
5 |
560 |
1.2e-205 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151187
AA Change: N183K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
AA Change: N183K
| 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 |
noncoding transcript
Transcript: ENSMUST00000202269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222934
AA Change: N183K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0592 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
T |
4: 40,163,797 (GRCm39) |
P17S |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,245,112 (GRCm39) |
|
probably null |
Het |
| Brd3 |
A |
T |
2: 27,343,427 (GRCm39) |
N480K |
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,168,890 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh1 |
T |
C |
8: 107,390,430 (GRCm39) |
V590A |
possibly damaging |
Het |
| Cert1 |
A |
G |
13: 96,751,343 (GRCm39) |
D331G |
probably damaging |
Het |
| Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
T |
A |
1: 63,222,840 (GRCm39) |
S132C |
probably damaging |
Het |
| Cyp4a12a |
T |
A |
4: 115,185,017 (GRCm39) |
D399E |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 117,918,486 (GRCm39) |
Y3482D |
probably damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,458,657 (GRCm39) |
|
probably null |
Het |
| Gzmk |
G |
T |
13: 113,310,482 (GRCm39) |
A73E |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,426,219 (GRCm39) |
V444A |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,678 (GRCm39) |
S864P |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,260,686 (GRCm39) |
V4515E |
possibly damaging |
Het |
| Map3k19 |
A |
T |
1: 127,751,427 (GRCm39) |
N641K |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,475 (GRCm39) |
T267A |
possibly damaging |
Het |
| Mipep |
T |
C |
14: 61,140,823 (GRCm39) |
L682P |
probably damaging |
Het |
| Nalcn |
G |
T |
14: 123,753,182 (GRCm39) |
T268K |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,234,550 (GRCm39) |
V135A |
probably benign |
Het |
| Ndufaf6 |
G |
T |
4: 11,060,931 (GRCm39) |
T215K |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,319,317 (GRCm39) |
D183G |
probably damaging |
Het |
| Pate9 |
C |
T |
9: 36,446,242 (GRCm39) |
A57T |
possibly damaging |
Het |
| Pax2 |
G |
T |
19: 44,749,394 (GRCm39) |
V41L |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,616,830 (GRCm39) |
N1804I |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,979,050 (GRCm39) |
V526E |
probably damaging |
Het |
| Ppp1ca |
G |
A |
19: 4,244,895 (GRCm39) |
C291Y |
probably damaging |
Het |
| Prag1 |
G |
T |
8: 36,607,123 (GRCm39) |
G955C |
probably damaging |
Het |
| Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
| Rap1b |
C |
T |
10: 117,660,516 (GRCm39) |
V14I |
probably damaging |
Het |
| Rnf181 |
G |
A |
6: 72,337,811 (GRCm39) |
|
probably null |
Het |
| Rsbn1l |
G |
A |
5: 21,101,243 (GRCm39) |
R766C |
possibly damaging |
Het |
| Rusc2 |
C |
T |
4: 43,414,948 (GRCm39) |
P85S |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,559,471 (GRCm39) |
|
probably null |
Het |
| Serpinb6a |
T |
A |
13: 34,102,855 (GRCm39) |
M202L |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,885,049 (GRCm39) |
F800S |
probably damaging |
Het |
| Tbc1d2b |
G |
A |
9: 90,091,812 (GRCm39) |
T830I |
probably damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,284,841 (GRCm39) |
D598G |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,545,607 (GRCm39) |
D622G |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,778 (GRCm39) |
M112K |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAATGACTGGCACGAAACAC -3'
(R):5'- TACTTACCATGTACTAGACCGTTAC -3'
Sequencing Primer
(F):5'- GGCACGAAACACAACTTAACATTTTG -3'
(R):5'- TGTACTTAAGAGCAAAACACATACAC -3'
|
| Posted On |
2017-04-24 |
Incidental Mutation