Incidental Mutation 'IGL03407:Tmem25'
| ID |
421648 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem25
|
| Ensembl Gene |
ENSMUSG00000002032 |
| Gene Name |
transmembrane protein 25 |
| Synonyms |
0610039J01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL03407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44705066-44710604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44707636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 220
(S220P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002099]
[ENSMUST00000002100]
[ENSMUST00000044694]
[ENSMUST00000114705]
[ENSMUST00000132020]
[ENSMUST00000213203]
[ENSMUST00000213363]
[ENSMUST00000214431]
[ENSMUST00000213972]
[ENSMUST00000214833]
|
| AlphaFold |
Q9DCF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002099
|
| SMART Domains |
Protein: ENSMUSP00000002099
Gene: ENSMUSG00000002031
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
52 |
N/A |
INTRINSIC |
|
Pfam:IFT46_B_C
|
60 |
270 |
6.2e-106 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002100
AA Change: S220P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002100
Gene: ENSMUSG00000002032
AA Change: S220P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
|
Pfam:C2-set_2
|
26 |
118 |
2.7e-14 |
PFAM |
|
SCOP:d1ie5a_
|
121 |
220 |
2e-6 |
SMART |
|
transmembrane domain
|
238 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044694
|
| SMART Domains |
Protein: ENSMUSP00000042183
Gene: ENSMUSG00000039438
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
|
Pfam:TPR_11
|
46 |
112 |
2.1e-13 |
PFAM |
|
Pfam:TPR_9
|
54 |
123 |
5.8e-7 |
PFAM |
|
Pfam:TPR_1
|
82 |
113 |
2.3e-6 |
PFAM |
|
Pfam:TPR_2
|
82 |
114 |
1.2e-5 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114705
AA Change: S220P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110353
Gene: ENSMUSG00000002032
AA Change: S220P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
|
Pfam:C2-set_2
|
26 |
118 |
2.2e-15 |
PFAM |
|
SCOP:d1ie5a_
|
121 |
220 |
2e-6 |
SMART |
|
transmembrane domain
|
238 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132020
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213203
AA Change: S220P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214833
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,904,111 (GRCm39) |
V198A |
probably benign |
Het |
| Acot3 |
A |
T |
12: 84,105,415 (GRCm39) |
D294V |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,985 (GRCm39) |
Y647H |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,856,330 (GRCm39) |
L67F |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,280,741 (GRCm39) |
C139R |
probably damaging |
Het |
| Fscb |
G |
T |
12: 64,520,269 (GRCm39) |
A399D |
probably damaging |
Het |
| Gm21726 |
T |
C |
13: 90,731,760 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,223,017 (GRCm39) |
V423D |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,861,400 (GRCm39) |
I415N |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,242,978 (GRCm39) |
T964A |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,138,981 (GRCm39) |
|
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or3a1d |
G |
T |
11: 74,238,371 (GRCm39) |
T13K |
possibly damaging |
Het |
| Or51m1 |
A |
T |
7: 103,578,158 (GRCm39) |
N43Y |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,074,255 (GRCm39) |
V870E |
probably damaging |
Het |
| Prss55 |
A |
T |
14: 64,314,539 (GRCm39) |
D210E |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,198 (GRCm39) |
I373M |
possibly damaging |
Het |
| Rbm12 |
C |
A |
2: 155,939,484 (GRCm39) |
G263* |
probably null |
Het |
| Rnf167 |
G |
T |
11: 70,541,879 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,477,237 (GRCm39) |
I715T |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
| St8sia1 |
T |
C |
6: 142,859,775 (GRCm39) |
N118S |
possibly damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,946,439 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,893,535 (GRCm39) |
S882P |
probably benign |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Trex1 |
C |
T |
9: 108,887,395 (GRCm39) |
G199S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,545 (GRCm39) |
I32814V |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,185 (GRCm39) |
R840* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,640,012 (GRCm39) |
Q1294L |
possibly damaging |
Het |
| Zdhhc7 |
T |
C |
8: 120,812,131 (GRCm39) |
N164D |
probably damaging |
Het |
|
| Other mutations in Tmem25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Tmem25
|
APN |
9 |
44,706,816 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01980:Tmem25
|
APN |
9 |
44,709,568 (GRCm39) |
nonsense |
probably null |
|
|
IGL02000:Tmem25
|
APN |
9 |
44,709,568 (GRCm39) |
nonsense |
probably null |
|
|
R0446:Tmem25
|
UTSW |
9 |
44,707,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Tmem25
|
UTSW |
9 |
44,706,811 (GRCm39) |
unclassified |
probably benign |
|
|
R0960:Tmem25
|
UTSW |
9 |
44,706,809 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1204:Tmem25
|
UTSW |
9 |
44,706,529 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1899:Tmem25
|
UTSW |
9 |
44,709,513 (GRCm39) |
splice site |
probably null |
|
|
R1927:Tmem25
|
UTSW |
9 |
44,707,780 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2088:Tmem25
|
UTSW |
9 |
44,707,383 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3027:Tmem25
|
UTSW |
9 |
44,709,511 (GRCm39) |
splice site |
probably null |
|
|
R6854:Tmem25
|
UTSW |
9 |
44,707,305 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7305:Tmem25
|
UTSW |
9 |
44,706,705 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7655:Tmem25
|
UTSW |
9 |
44,709,640 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7656:Tmem25
|
UTSW |
9 |
44,709,640 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7951:Tmem25
|
UTSW |
9 |
44,706,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7968:Tmem25
|
UTSW |
9 |
44,706,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8298:Tmem25
|
UTSW |
9 |
44,710,116 (GRCm39) |
start gained |
probably benign |
|
|
R9177:Tmem25
|
UTSW |
9 |
44,709,529 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9207:Tmem25
|
UTSW |
9 |
44,710,476 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9274:Tmem25
|
UTSW |
9 |
44,706,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9291:Tmem25
|
UTSW |
9 |
44,706,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9645:Tmem25
|
UTSW |
9 |
44,706,515 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation