Incidental Mutation 'IGL01068:Tmem209'
ID |
51248 |
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 # |
IGL01068
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
30480806-30509786 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 30502085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 197
(L197R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138292
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064330]
[ENSMUST00000102991]
[ENSMUST00000115157]
[ENSMUST00000115160]
[ENSMUST00000138823]
[ENSMUST00000148638]
[ENSMUST00000151187]
[ENSMUST00000154547]
[ENSMUST00000222934]
|
AlphaFold |
Q8BRG8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064330
AA Change: L197R
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000067667 Gene: ENSMUSG00000029782 AA Change: L197R
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: L197R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000100056 Gene: ENSMUSG00000029782 AA Change: L197R
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: L196R
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110810 Gene: ENSMUSG00000029782 AA Change: L196R
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
4 |
560 |
4.8e-209 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115160
AA Change: L197R
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110813 Gene: ENSMUSG00000029782 AA Change: L197R
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
6 |
560 |
6.4e-159 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138823
AA Change: L197R
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138292 Gene: ENSMUSG00000029782 AA Change: L197R
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
5 |
560 |
1.2e-205 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148638
|
SMART Domains |
Protein: ENSMUSP00000115567 Gene: ENSMUSG00000029782
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 |
noncoding transcript
Transcript: ENSMUST00000150480
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151187
AA Change: L39R
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000138232 Gene: ENSMUSG00000029782 AA Change: L39R
Domain | Start | End | E-Value | Type |
Pfam:CytochromB561_N
|
1 |
403 |
1.5e-160 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154547
AA Change: L39R
|
SMART Domains |
Protein: ENSMUSP00000145248 Gene: ENSMUSG00000029782 AA Change: L39R
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222934
AA Change: L39R
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
T |
C |
7: 43,153,599 (GRCm39) |
|
probably benign |
Het |
Adgra1 |
A |
G |
7: 139,425,541 (GRCm39) |
E18G |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Atg16l1 |
C |
T |
1: 87,702,546 (GRCm39) |
S269L |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,824,680 (GRCm39) |
V853A |
probably benign |
Het |
Bicral |
T |
C |
17: 47,136,317 (GRCm39) |
I298V |
probably damaging |
Het |
Cad |
A |
G |
5: 31,219,114 (GRCm39) |
|
probably benign |
Het |
Chd9 |
A |
T |
8: 91,768,744 (GRCm39) |
Y2448F |
probably benign |
Het |
Clstn3 |
A |
G |
6: 124,439,098 (GRCm39) |
L16S |
probably damaging |
Het |
Cmtr2 |
G |
A |
8: 110,949,501 (GRCm39) |
V604M |
possibly damaging |
Het |
Ctcf |
A |
T |
8: 106,408,117 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
A |
G |
17: 79,172,800 (GRCm39) |
I295T |
probably damaging |
Het |
Foxm1 |
G |
A |
6: 128,347,930 (GRCm39) |
R284H |
possibly damaging |
Het |
Gabra2 |
T |
C |
5: 71,119,415 (GRCm39) |
I362M |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,313,460 (GRCm39) |
P1900Q |
probably benign |
Het |
Klhl25 |
G |
T |
7: 75,515,897 (GRCm39) |
E268* |
probably null |
Het |
Klk1b16 |
T |
C |
7: 43,790,102 (GRCm39) |
L124P |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,864,880 (GRCm39) |
|
probably null |
Het |
Mpped2 |
T |
A |
2: 106,695,091 (GRCm39) |
H248Q |
probably damaging |
Het |
Mrpl1 |
T |
A |
5: 96,371,895 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,978,428 (GRCm39) |
S429R |
probably damaging |
Het |
Myl2 |
G |
A |
5: 122,244,767 (GRCm39) |
V146I |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,739,395 (GRCm39) |
I527N |
possibly damaging |
Het |
Ncoa3 |
T |
C |
2: 165,894,715 (GRCm39) |
S333P |
probably damaging |
Het |
Or1j4 |
T |
G |
2: 36,740,282 (GRCm39) |
S75A |
probably damaging |
Het |
Or4k47 |
T |
G |
2: 111,451,685 (GRCm39) |
T245P |
probably damaging |
Het |
Oxct1 |
T |
C |
15: 4,083,246 (GRCm39) |
F155S |
probably damaging |
Het |
P4ha1 |
T |
C |
10: 59,175,157 (GRCm39) |
V39A |
probably damaging |
Het |
Padi6 |
G |
T |
4: 140,458,264 (GRCm39) |
T514N |
possibly damaging |
Het |
Pgm2 |
G |
A |
5: 64,265,139 (GRCm39) |
V387I |
probably damaging |
Het |
Ppt1 |
G |
A |
4: 122,737,800 (GRCm39) |
C46Y |
probably damaging |
Het |
Rnf225 |
T |
C |
7: 12,662,827 (GRCm39) |
|
probably benign |
Het |
Rpl26 |
T |
C |
11: 68,793,224 (GRCm39) |
Y42H |
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,324,968 (GRCm39) |
N558S |
probably damaging |
Het |
Sema3e |
T |
G |
5: 14,283,732 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
T |
C |
17: 81,696,371 (GRCm39) |
I888V |
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,523,883 (GRCm39) |
C306R |
probably damaging |
Het |
Tmem38b |
T |
G |
4: 53,849,024 (GRCm39) |
V119G |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,608,547 (GRCm39) |
D82G |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,806,763 (GRCm39) |
F2094L |
probably damaging |
Het |
Zfp638 |
C |
T |
6: 83,911,976 (GRCm39) |
R453W |
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 |
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 |
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 |
2013-06-21 |