Incidental Mutation 'R2423:Tmem248'
| ID |
249431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem248
|
| Ensembl Gene |
ENSMUSG00000053094 |
| Gene Name |
transmembrane protein 248 |
| Synonyms |
G430067H08Rik, 0610007L01Rik, A930023A16Rik |
| MMRRC Submission |
040385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2423 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
130248585-130272606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130258403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 32
(I32T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065329]
[ENSMUST00000111298]
[ENSMUST00000200802]
[ENSMUST00000202305]
[ENSMUST00000202612]
|
| AlphaFold |
Q3TBN1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065329
AA Change: I32T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067501
Gene: ENSMUSG00000053094
AA Change: I32T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
10 |
258 |
1.7e-97 |
PFAM |
|
transmembrane domain
|
268 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111298
AA Change: I32T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106929
Gene: ENSMUSG00000053094
AA Change: I32T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
10 |
257 |
1.8e-86 |
PFAM |
|
transmembrane domain
|
268 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200802
AA Change: I32T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144363
Gene: ENSMUSG00000053094
AA Change: I32T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
10 |
105 |
1e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202305
AA Change: I32T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144452
Gene: ENSMUSG00000053094
AA Change: I32T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
10 |
149 |
3.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202954
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer2 |
T |
C |
14: 60,616,656 (GRCm39) |
S284P |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,532 (GRCm39) |
V614A |
probably benign |
Het |
| Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
| Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
| F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
| Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
| Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
| Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,388,724 (GRCm39) |
L216P |
possibly damaging |
Het |
| Slc26a10 |
T |
A |
10: 127,015,606 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
| Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,349,795 (GRCm39) |
I251V |
probably benign |
Het |
| Tnk1 |
T |
G |
11: 69,746,587 (GRCm39) |
T209P |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
| Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
Het |
|
| Other mutations in Tmem248 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1509:Tmem248
|
UTSW |
5 |
130,258,295 (GRCm39) |
start gained |
probably benign |
|
|
R1741:Tmem248
|
UTSW |
5 |
130,265,664 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1782:Tmem248
|
UTSW |
5 |
130,260,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Tmem248
|
UTSW |
5 |
130,260,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Tmem248
|
UTSW |
5 |
130,260,597 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4657:Tmem248
|
UTSW |
5 |
130,260,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Tmem248
|
UTSW |
5 |
130,265,731 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5151:Tmem248
|
UTSW |
5 |
130,269,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Tmem248
|
UTSW |
5 |
130,258,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Tmem248
|
UTSW |
5 |
130,258,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6332:Tmem248
|
UTSW |
5 |
130,258,310 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R9146:Tmem248
|
UTSW |
5 |
130,260,851 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGAGACTGGACTGAGCGCTG -3'
(R):5'- CTATCTGTGTGCCCTTGAATAAC -3'
Sequencing Primer
(F):5'- AGCGCTGCAGCTTAGTG -3'
(R):5'- CTGTGTGCCCTTGAATAACAGAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation