Incidental Mutation 'R6721:Tmem209'
| ID |
529582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem209
|
| Ensembl Gene |
ENSMUSG00000029782 |
| Gene Name |
transmembrane protein 209 |
| Synonyms |
2700094F01Rik |
| MMRRC Submission |
044839-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.674)
|
| Stock # |
R6721 (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 30497174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 339
(F339L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100056
(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: F339L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: F339L
| 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: F339L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: F339L
| 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: F338L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: F338L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
4 |
560 |
4.8e-209 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115160
AA Change: F339L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: F339L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
6 |
560 |
6.4e-159 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138823
AA Change: F339L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: F339L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
5 |
560 |
1.2e-205 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151187
AA Change: F181L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
AA Change: F181L
| 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 benign
Transcript: ENSMUST00000222934
AA Change: F181L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202269
|
| Meta Mutation Damage Score |
0.0579 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
| Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
| Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
| Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
| Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
| Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
| Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
| Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
| Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
| Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
| Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
| Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
| Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
| Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
| Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
| U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
| Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
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 |
|
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 |
|
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'- GTTCAATGACTGGCACGAAAC -3'
(R):5'- ACCATGTACTAGACCGTTACATTC -3'
Sequencing Primer
(F):5'- ATTATATGTGTGTCTAGAGCCCATG -3'
(R):5'- TGTACTTAAGAGCAAAACACATACAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation