Incidental Mutation 'R6873:Tmem209'
| ID |
536252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem209
|
| Ensembl Gene |
ENSMUSG00000029782 |
| Gene Name |
transmembrane protein 209 |
| Synonyms |
2700094F01Rik |
| MMRRC Submission |
044970-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.674)
|
| Stock # |
R6873 (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 30508455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 66
(I66T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031797]
[ENSMUST00000031798]
[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: ENSMUST00000031798
|
| SMART Domains |
Protein: ENSMUSP00000031798
Gene: ENSMUSG00000029784
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4636
|
1 |
243 |
1e-144 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064330
AA Change: I66T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: I66T
| 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: I66T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: I66T
| 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: I65T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: I65T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
4 |
560 |
4.8e-209 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115160
AA Change: I66T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: I66T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
6 |
560 |
6.4e-159 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138823
AA Change: I66T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: I66T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
5 |
560 |
1.2e-205 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148638
AA Change: I66T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115567
Gene: ENSMUSG00000029782
AA Change: I66T
| 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 |
probably benign
Transcript: ENSMUST00000151187
|
| SMART Domains |
Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,138 (GRCm39) |
D123G |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,423,856 (GRCm39) |
D294G |
possibly damaging |
Het |
| Apob |
G |
T |
12: 8,065,995 (GRCm39) |
M4288I |
probably benign |
Het |
| Arnt |
T |
G |
3: 95,381,886 (GRCm39) |
F160V |
probably damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,863,540 (GRCm39) |
R42* |
probably null |
Het |
| Bhlha15 |
A |
G |
5: 144,128,203 (GRCm39) |
D105G |
probably benign |
Het |
| C6 |
A |
G |
15: 4,820,461 (GRCm39) |
T491A |
probably benign |
Het |
| Calhm5 |
G |
C |
10: 33,968,448 (GRCm39) |
R202G |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,723,153 (GRCm39) |
E647G |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,283,993 (GRCm39) |
D1579G |
unknown |
Het |
| Dctn2 |
T |
G |
10: 127,112,105 (GRCm39) |
|
probably null |
Het |
| Eqtn |
A |
G |
4: 94,815,258 (GRCm39) |
V80A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,802,803 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,041,787 (GRCm39) |
D814G |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,672,045 (GRCm39) |
D445G |
probably damaging |
Het |
| Gm6309 |
T |
C |
5: 146,104,998 (GRCm39) |
D305G |
probably damaging |
Het |
| Grap2 |
G |
A |
15: 80,527,874 (GRCm39) |
V107I |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,235,865 (GRCm39) |
A1439T |
probably benign |
Het |
| Krt5 |
G |
A |
15: 101,621,312 (GRCm39) |
|
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,699,642 (GRCm39) |
I152M |
possibly damaging |
Het |
| Mast3 |
A |
T |
8: 71,239,236 (GRCm39) |
C447* |
probably null |
Het |
| Mef2b |
A |
G |
8: 70,618,957 (GRCm39) |
I180V |
probably benign |
Het |
| Mon1b |
T |
C |
8: 114,368,697 (GRCm39) |
Y533H |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,788,843 (GRCm39) |
H454L |
possibly damaging |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,496 (GRCm39) |
Q84* |
probably null |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,503,433 (GRCm39) |
I513T |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,508 (GRCm39) |
I304F |
probably benign |
Het |
| Or2n1 |
A |
T |
17: 38,486,259 (GRCm39) |
M95L |
probably benign |
Het |
| Or4c108 |
T |
C |
2: 88,803,768 (GRCm39) |
T156A |
probably benign |
Het |
| Panx1 |
A |
T |
9: 14,921,513 (GRCm39) |
Y121N |
probably damaging |
Het |
| Pfkfb4 |
A |
C |
9: 108,839,403 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
A |
G |
18: 78,902,774 (GRCm39) |
S298P |
probably benign |
Het |
| Sh3bgr |
A |
C |
16: 96,007,691 (GRCm39) |
K19Q |
probably damaging |
Het |
| Slc35c2 |
T |
C |
2: 165,124,729 (GRCm39) |
D82G |
possibly damaging |
Het |
| Spata13 |
T |
A |
14: 60,929,406 (GRCm39) |
D321E |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,697,230 (GRCm39) |
|
probably null |
Het |
| Sulf2 |
T |
A |
2: 165,931,195 (GRCm39) |
I271F |
probably damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,359,311 (GRCm39) |
I96L |
probably benign |
Het |
| Sv2b |
A |
G |
7: 74,855,954 (GRCm39) |
F112S |
probably damaging |
Het |
| Sycp1 |
G |
A |
3: 102,748,296 (GRCm39) |
T832I |
probably benign |
Het |
| Tm9sf2 |
A |
T |
14: 122,382,525 (GRCm39) |
E179V |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,335,549 (GRCm39) |
W220R |
probably damaging |
Het |
| Ttc39b |
G |
C |
4: 83,164,513 (GRCm39) |
N266K |
probably damaging |
Het |
| Uri1 |
A |
T |
7: 37,664,764 (GRCm39) |
D309E |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
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 |
|
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 |
|
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'- CGGGACTAGATATTCTGCCATACC -3'
(R):5'- ACTATTGTTGGCTGGCACTG -3'
Sequencing Primer
(F):5'- GCTGGCCTCAGACTTGAAGTAATC -3'
(R):5'- CTGGCACTGTGGCTTTTTATATTTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation