Incidental Mutation 'R7461:Tmem209'
| ID |
578447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem209
|
| Ensembl Gene |
ENSMUSG00000029782 |
| Gene Name |
transmembrane protein 209 |
| Synonyms |
2700094F01Rik |
| MMRRC Submission |
045535-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.674)
|
| Stock # |
R7461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30480806-30509786 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 30508469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 61
(W61*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110813
(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 null
Transcript: ENSMUST00000064330
AA Change: W61*
|
| SMART Domains |
Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: W61*
| 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 null
Transcript: ENSMUST00000102991
AA Change: W61*
|
| SMART Domains |
Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: W61*
| 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 null
Transcript: ENSMUST00000115157
AA Change: W60*
|
| SMART Domains |
Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: W60*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
4 |
560 |
4.8e-209 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115160
AA Change: W61*
|
| SMART Domains |
Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: W61*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
6 |
560 |
6.4e-159 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138823
AA Change: W61*
|
| SMART Domains |
Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: W61*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CytochromB561_N
|
5 |
560 |
1.2e-205 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148638
AA Change: W61*
|
| SMART Domains |
Protein: ENSMUSP00000115567
Gene: ENSMUSG00000029782
AA Change: W61*
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adgrb2 |
CTATA |
CTATATA |
4: 129,915,006 (GRCm39) |
|
probably benign |
Het |
| Akt2 |
A |
G |
7: 27,336,595 (GRCm39) |
I448V |
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,956,928 (GRCm39) |
T117M |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,115,326 (GRCm39) |
E358G |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,549 (GRCm39) |
K42N |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,788,120 (GRCm39) |
D1605E |
probably benign |
Het |
| Cdkl1 |
T |
A |
12: 69,803,235 (GRCm39) |
I214L |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,302,956 (GRCm39) |
G2506R |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,764,501 (GRCm39) |
R1304* |
probably null |
Het |
| Cfap58 |
A |
G |
19: 47,970,561 (GRCm39) |
D593G |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,107,777 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
G |
T |
1: 93,122,311 (GRCm39) |
A735S |
possibly damaging |
Het |
| Dcc |
A |
T |
18: 71,439,105 (GRCm39) |
L1279H |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,439,816 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
T |
9: 64,960,402 (GRCm39) |
T311M |
possibly damaging |
Het |
| Eps15 |
T |
C |
4: 109,186,922 (GRCm39) |
S330P |
probably damaging |
Het |
| Exoc2 |
C |
T |
13: 31,066,255 (GRCm39) |
V474I |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,194,416 (GRCm39) |
T39A |
unknown |
Het |
| Foxn2 |
T |
C |
17: 88,794,311 (GRCm39) |
I416T |
possibly damaging |
Het |
| Gbp8 |
T |
C |
5: 105,178,880 (GRCm39) |
E145G |
probably damaging |
Het |
| Gjd2 |
A |
C |
2: 113,841,599 (GRCm39) |
S293A |
possibly damaging |
Het |
| Gm3676 |
T |
A |
14: 41,365,233 (GRCm39) |
I141L |
probably benign |
Het |
| Gm4131 |
A |
G |
14: 62,718,538 (GRCm39) |
Y23H |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdac2 |
T |
C |
10: 36,865,232 (GRCm39) |
S149P |
probably damaging |
Het |
| Igsf9b |
A |
T |
9: 27,245,418 (GRCm39) |
R1128S |
probably benign |
Het |
| Invs |
A |
G |
4: 48,392,668 (GRCm39) |
H294R |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,065,211 (GRCm39) |
S122T |
possibly damaging |
Het |
| Kansl3 |
G |
A |
1: 36,382,876 (GRCm39) |
S812F |
probably damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,791,358 (GRCm39) |
H567L |
probably benign |
Het |
| Klhl30 |
G |
T |
1: 91,285,130 (GRCm39) |
V329F |
possibly damaging |
Het |
| Krt33a |
A |
G |
11: 99,902,765 (GRCm39) |
I353T |
probably damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,507,116 (GRCm39) |
H1617Q |
unknown |
Het |
| Lrrc7 |
T |
C |
3: 157,892,657 (GRCm39) |
T331A |
probably benign |
Het |
| Megf10 |
G |
T |
18: 57,385,925 (GRCm39) |
V313F |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,395,978 (GRCm39) |
T1438A |
|
Het |
| Myocd |
A |
G |
11: 65,109,429 (GRCm39) |
L114P |
probably damaging |
Het |
| Or5b21 |
A |
T |
19: 12,839,141 (GRCm39) |
M1L |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,503 (GRCm39) |
E29G |
probably damaging |
Het |
| Por |
G |
T |
5: 135,758,358 (GRCm39) |
A112S |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,304,221 (GRCm39) |
F651S |
probably damaging |
Het |
| Selenoi |
A |
G |
5: 30,471,926 (GRCm39) |
I376V |
possibly damaging |
Het |
| Setbp1 |
A |
C |
18: 78,899,707 (GRCm39) |
M1320R |
probably benign |
Het |
| Skint6 |
A |
T |
4: 113,034,243 (GRCm39) |
|
probably null |
Het |
| Tdrd6 |
T |
C |
17: 43,938,817 (GRCm39) |
T744A |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,554,762 (GRCm39) |
|
probably null |
Het |
| Tradd |
T |
C |
8: 105,987,196 (GRCm39) |
K37E |
possibly damaging |
Het |
| Ttc28 |
C |
A |
5: 111,371,995 (GRCm39) |
L846M |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,207,031 (GRCm39) |
C807* |
probably null |
Het |
| Upf2 |
T |
A |
2: 5,978,347 (GRCm39) |
S404T |
unknown |
Het |
| Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
possibly 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 |
|
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 |
|
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'- GTTCTTTCCATAAAAGGGGTTACC -3'
(R):5'- TCCTAAATGTATCCATGGCTGG -3'
Sequencing Primer
(F):5'- GGGGTTACCTCGTTCCTTCACTAG -3'
(R):5'- ACTGAAATGTAAGTTAATCAGCCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation