Incidental Mutation 'IGL01022:Tmem259'
ID |
53845 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem259
|
Ensembl Gene |
ENSMUSG00000013858 |
Gene Name |
transmembrane protein 259 |
Synonyms |
ORF61, membralin |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01022
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
79812954-79820159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79819808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 22
(V22A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004784]
[ENSMUST00000052885]
[ENSMUST00000105374]
|
AlphaFold |
Q8CIV2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004784
|
SMART Domains |
Protein: ENSMUSP00000004784 Gene: ENSMUSG00000004665
Domain | Start | End | E-Value | Type |
CH
|
30 |
127 |
1.82e-22 |
SMART |
Pfam:Calponin
|
166 |
190 |
6e-20 |
PFAM |
Pfam:Calponin
|
206 |
230 |
6e-20 |
PFAM |
Pfam:Calponin
|
245 |
268 |
2.6e-10 |
PFAM |
low complexity region
|
276 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052885
AA Change: V53A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000056792 Gene: ENSMUSG00000013858 AA Change: V53A
Domain | Start | End | E-Value | Type |
Pfam:Membralin
|
34 |
131 |
3.3e-44 |
PFAM |
Pfam:Membralin
|
138 |
393 |
3.9e-130 |
PFAM |
transmembrane domain
|
394 |
411 |
N/A |
INTRINSIC |
low complexity region
|
455 |
470 |
N/A |
INTRINSIC |
low complexity region
|
483 |
521 |
N/A |
INTRINSIC |
low complexity region
|
531 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105374
|
SMART Domains |
Protein: ENSMUSP00000101013 Gene: ENSMUSG00000004665
Domain | Start | End | E-Value | Type |
CH
|
30 |
127 |
1.82e-22 |
SMART |
Pfam:Calponin
|
130 |
152 |
7.6e-15 |
PFAM |
Pfam:Calponin
|
167 |
192 |
4.1e-16 |
PFAM |
Pfam:Calponin
|
206 |
230 |
6.4e-15 |
PFAM |
low complexity region
|
237 |
255 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124536
AA Change: V22A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119572 Gene: ENSMUSG00000013858 AA Change: V22A
Domain | Start | End | E-Value | Type |
Pfam:Membralin
|
4 |
101 |
1.6e-44 |
PFAM |
Pfam:Membralin
|
108 |
297 |
7.7e-83 |
PFAM |
Pfam:Membralin
|
316 |
387 |
5e-42 |
PFAM |
transmembrane domain
|
388 |
405 |
N/A |
INTRINSIC |
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
low complexity region
|
477 |
515 |
N/A |
INTRINSIC |
low complexity region
|
525 |
538 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179260
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,038,721 (GRCm39) |
S927P |
probably benign |
Het |
Arfgef1 |
G |
T |
1: 10,244,301 (GRCm39) |
F987L |
probably damaging |
Het |
Asph |
A |
T |
4: 9,601,344 (GRCm39) |
N191K |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,577,099 (GRCm39) |
C71S |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,951,652 (GRCm39) |
S2920T |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,562,308 (GRCm39) |
R1030* |
probably null |
Het |
Chd8 |
T |
C |
14: 52,474,450 (GRCm39) |
T194A |
probably benign |
Het |
Col9a3 |
A |
T |
2: 180,258,227 (GRCm39) |
I549F |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,077,568 (GRCm39) |
N775S |
probably benign |
Het |
Gm10800 |
T |
A |
2: 98,497,576 (GRCm39) |
|
probably benign |
Het |
Gm5117 |
T |
A |
8: 32,228,515 (GRCm39) |
|
noncoding transcript |
Het |
Hap1 |
A |
G |
11: 100,240,374 (GRCm39) |
L112P |
probably benign |
Het |
Hcls1 |
C |
A |
16: 36,771,488 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,507,699 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
A |
1: 128,228,596 (GRCm39) |
I966L |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,474,361 (GRCm39) |
I451F |
possibly damaging |
Het |
Notch4 |
G |
A |
17: 34,784,671 (GRCm39) |
C128Y |
probably damaging |
Het |
Oca2 |
T |
A |
7: 55,974,504 (GRCm39) |
N484K |
probably damaging |
Het |
Or51f1e |
T |
G |
7: 102,747,077 (GRCm39) |
L43R |
probably damaging |
Het |
Or7a42 |
A |
T |
10: 78,791,188 (GRCm39) |
I50F |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,671,066 (GRCm39) |
R1362* |
probably null |
Het |
Sema3a |
C |
T |
5: 13,523,433 (GRCm39) |
T134I |
probably damaging |
Het |
Sfta2 |
C |
T |
17: 35,961,336 (GRCm39) |
T74I |
possibly damaging |
Het |
Slfn10-ps |
C |
T |
11: 82,926,353 (GRCm39) |
|
noncoding transcript |
Het |
Spag11a |
A |
T |
8: 19,208,005 (GRCm39) |
Q15H |
probably damaging |
Het |
Tbc1d22a |
G |
A |
15: 86,185,756 (GRCm39) |
D282N |
probably damaging |
Het |
Tmbim6 |
G |
A |
15: 99,300,003 (GRCm39) |
V40M |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,679,377 (GRCm39) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,424,610 (GRCm39) |
D2002G |
probably benign |
Het |
|
Other mutations in Tmem259 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Tmem259
|
APN |
10 |
79,815,568 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02113:Tmem259
|
APN |
10 |
79,814,543 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02218:Tmem259
|
APN |
10 |
79,814,151 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02272:Tmem259
|
APN |
10 |
79,814,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02648:Tmem259
|
APN |
10 |
79,813,651 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02735:Tmem259
|
APN |
10 |
79,814,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0244:Tmem259
|
UTSW |
10 |
79,814,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R0535:Tmem259
|
UTSW |
10 |
79,814,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R3824:Tmem259
|
UTSW |
10 |
79,814,282 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3825:Tmem259
|
UTSW |
10 |
79,814,282 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5564:Tmem259
|
UTSW |
10 |
79,814,442 (GRCm39) |
splice site |
probably null |
|
R6773:Tmem259
|
UTSW |
10 |
79,813,422 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6979:Tmem259
|
UTSW |
10 |
79,814,391 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7288:Tmem259
|
UTSW |
10 |
79,814,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R7473:Tmem259
|
UTSW |
10 |
79,815,506 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7677:Tmem259
|
UTSW |
10 |
79,814,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R8531:Tmem259
|
UTSW |
10 |
79,813,819 (GRCm39) |
missense |
probably damaging |
0.98 |
R8826:Tmem259
|
UTSW |
10 |
79,814,983 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tmem259
|
UTSW |
10 |
79,814,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-06-28 |