Incidental Mutation 'R6854:Tmem25'
| ID |
535152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem25
|
| Ensembl Gene |
ENSMUSG00000002032 |
| Gene Name |
transmembrane protein 25 |
| Synonyms |
0610039J01Rik |
| MMRRC Submission |
044957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44705066-44710604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44707305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 265
(K265E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002099]
[ENSMUST00000002100]
[ENSMUST00000044694]
[ENSMUST00000114705]
[ENSMUST00000132020]
[ENSMUST00000213203]
[ENSMUST00000213363]
[ENSMUST00000213972]
[ENSMUST00000214431]
[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 |
possibly damaging
Transcript: ENSMUST00000002100
AA Change: K265E
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000002100
Gene: ENSMUSG00000002032
AA Change: K265E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110353
Gene: ENSMUSG00000002032
| 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 benign
Transcript: ENSMUST00000213203
AA Change: K265E
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214833
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,992,599 (GRCm39) |
S4628P |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,390,920 (GRCm39) |
R735H |
possibly damaging |
Het |
| Atp4a |
T |
C |
7: 30,414,433 (GRCm39) |
V152A |
probably benign |
Het |
| BC035947 |
G |
A |
1: 78,475,125 (GRCm39) |
T469I |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,722,687 (GRCm39) |
S277T |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,881,127 (GRCm39) |
N1142K |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,889,645 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,708,995 (GRCm39) |
K79E |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,269,391 (GRCm39) |
|
probably null |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,502,638 (GRCm39) |
R330H |
probably damaging |
Het |
| Gm6034 |
T |
A |
17: 36,368,110 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,309,983 (GRCm39) |
E741G |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,004,258 (GRCm39) |
V448A |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,702,382 (GRCm39) |
R679G |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,765,381 (GRCm39) |
S70P |
possibly damaging |
Het |
| Maml2 |
C |
T |
9: 13,617,131 (GRCm39) |
T159I |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mycl |
G |
A |
4: 122,894,039 (GRCm39) |
D280N |
probably damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,119,259 (GRCm39) |
T12I |
possibly damaging |
Het |
| Or4f14c |
T |
C |
2: 111,940,992 (GRCm39) |
N202D |
probably benign |
Het |
| Or5h19 |
A |
C |
16: 58,856,428 (GRCm39) |
I224S |
possibly damaging |
Het |
| Palmd |
A |
G |
3: 116,717,112 (GRCm39) |
S462P |
probably benign |
Het |
| Phyhd1 |
A |
C |
2: 30,159,773 (GRCm39) |
I36L |
possibly damaging |
Het |
| Plcd1 |
T |
C |
9: 118,903,389 (GRCm39) |
|
probably null |
Het |
| Pml |
G |
C |
9: 58,127,189 (GRCm39) |
A806G |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,635,395 (GRCm39) |
A838S |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,469,402 (GRCm39) |
T169I |
probably damaging |
Het |
| Prr23a1 |
G |
T |
9: 98,724,988 (GRCm39) |
V117L |
possibly damaging |
Het |
| Pus7 |
T |
C |
5: 23,973,845 (GRCm39) |
|
silent |
Het |
| Rdh7 |
T |
C |
10: 127,724,250 (GRCm39) |
E78G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,570,825 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,430 (GRCm39) |
N921S |
possibly damaging |
Het |
| Sema4f |
A |
G |
6: 82,894,983 (GRCm39) |
L404P |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,287,031 (GRCm39) |
M2L |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,604 (GRCm39) |
V138A |
probably benign |
Het |
| Slc66a3 |
G |
A |
12: 17,049,830 (GRCm39) |
L43F |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,775 (GRCm39) |
Q106L |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,254 (GRCm39) |
P1821L |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,815,727 (GRCm39) |
M107I |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vsig10 |
G |
A |
5: 117,476,472 (GRCm39) |
V309I |
probably benign |
Het |
| Zfp318 |
G |
GAAGAAA |
17: 46,723,468 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- ACCCGAGATCACTTTCCAGC -3'
(R):5'- TGTGAATGAGTTATCCCCAGC -3'
Sequencing Primer
(F):5'- AGATCACTTTCCAGCGCCCG -3'
(R):5'- CATGTGGCATGTCAGGGTCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation