Incidental Mutation 'R1204:Tmem25'
| ID |
100340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem25
|
| Ensembl Gene |
ENSMUSG00000002032 |
| Gene Name |
transmembrane protein 25 |
| Synonyms |
0610039J01Rik |
| MMRRC Submission |
039274-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1204 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44705066-44710604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44706529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 284
(E284G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002099]
[ENSMUST00000002100]
[ENSMUST00000044694]
[ENSMUST00000114705]
[ENSMUST00000118186]
[ENSMUST00000132020]
[ENSMUST00000213363]
[ENSMUST00000214431]
[ENSMUST00000213972]
[ENSMUST00000213203]
[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 benign
Transcript: ENSMUST00000002100
AA Change: E328G
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000002100
Gene: ENSMUSG00000002032
AA Change: E328G
| 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 benign
Transcript: ENSMUST00000114705
AA Change: E284G
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110353
Gene: ENSMUSG00000002032
AA Change: E284G
| 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: ENSMUST00000118186
|
| SMART Domains |
Protein: ENSMUSP00000113845
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
|
59 |
272 |
1.1e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149020
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216449
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,328,214 (GRCm39) |
I133F |
probably damaging |
Het |
| Acyp1 |
A |
T |
12: 85,326,866 (GRCm39) |
|
probably null |
Het |
| Ermap |
T |
C |
4: 119,046,064 (GRCm39) |
K22R |
possibly damaging |
Het |
| Glce |
T |
C |
9: 61,977,849 (GRCm39) |
T12A |
probably damaging |
Het |
| Hao1 |
G |
A |
2: 134,364,947 (GRCm39) |
R227* |
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,488,548 (GRCm39) |
D3613G |
possibly damaging |
Het |
| Hspa2 |
A |
G |
12: 76,451,641 (GRCm39) |
M112V |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,901,670 (GRCm39) |
I1124V |
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,829,584 (GRCm39) |
I738T |
probably damaging |
Het |
| Mgrn1 |
T |
G |
16: 4,725,273 (GRCm39) |
F44V |
probably damaging |
Het |
| Or1af1 |
A |
G |
2: 37,109,651 (GRCm39) |
Q50R |
probably benign |
Het |
| Otog |
G |
A |
7: 45,909,335 (GRCm39) |
V602M |
probably benign |
Het |
| Pik3r5 |
T |
G |
11: 68,385,050 (GRCm39) |
L652V |
probably benign |
Het |
| Pkdrej |
G |
A |
15: 85,702,513 (GRCm39) |
T1141M |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,573,142 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
A |
T |
7: 44,042,091 (GRCm39) |
I317F |
probably damaging |
Het |
| Tmem214 |
C |
T |
5: 31,033,134 (GRCm39) |
A509V |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,501 (GRCm39) |
N148D |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,578,031 (GRCm39) |
R447G |
probably benign |
Het |
| Zfp964 |
A |
T |
8: 70,116,668 (GRCm39) |
I423L |
probably benign |
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 |
|
|
IGL03407:Tmem25
|
APN |
9 |
44,707,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCACTGCTTACACTGGACACAC -3'
(R):5'- TGCCTGTGCTGAATGCTCAGAAC -3'
Sequencing Primer
(F):5'- TTACACTGGACACACGGTAG -3'
(R):5'- GCTCAGAACTTTTAAGAAAGAGACAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation