Incidental Mutation 'R8703:Tmem135'
| ID |
669151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem135
|
| Ensembl Gene |
ENSMUSG00000039428 |
| Gene Name |
transmembrane protein 135 |
| Synonyms |
2810439K08Rik |
| MMRRC Submission |
068557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R8703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
88788922-89053430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88808170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 202
(A202V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041968]
[ENSMUST00000117852]
|
| AlphaFold |
Q9CYV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041968
AA Change: A202V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
AA Change: A202V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM135_C_rich
|
9 |
142 |
2.2e-84 |
PFAM |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
Pfam:Tim17
|
249 |
370 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117852
AA Change: A202V
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000114097
Gene: ENSMUSG00000039428
AA Change: A202V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
115 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
299 |
321 |
N/A |
INTRINSIC |
|
transmembrane domain
|
331 |
353 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0662 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,676,792 (GRCm39) |
T2013I |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,201,120 (GRCm39) |
N137Y |
|
Het |
| Apol10b |
T |
A |
15: 77,472,897 (GRCm39) |
E52D |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,192,291 (GRCm39) |
Y128N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,493,576 (GRCm39) |
L1669* |
probably null |
Het |
| Dppa3 |
A |
T |
6: 122,605,737 (GRCm39) |
D97V |
probably damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,552,329 (GRCm39) |
P490T |
probably damaging |
Het |
| Eya4 |
A |
G |
10: 23,039,340 (GRCm39) |
S85P |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,332 (GRCm39) |
I113N |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,247,997 (GRCm39) |
D1040G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,821,871 (GRCm39) |
D5868V |
probably damaging |
Het |
| Gpr75 |
A |
C |
11: 30,841,890 (GRCm39) |
Q265P |
probably damaging |
Het |
| Iqcm |
G |
T |
8: 76,615,271 (GRCm39) |
G451C |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,506,073 (GRCm39) |
P67L |
probably damaging |
Het |
| Naalad2 |
A |
C |
9: 18,290,008 (GRCm39) |
Y207D |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,323,703 (GRCm39) |
D1325N |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,643,021 (GRCm39) |
|
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4b1b |
T |
A |
2: 90,126,837 (GRCm39) |
I123F |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,244 (GRCm39) |
V124L |
possibly damaging |
Het |
| Or9i14 |
G |
T |
19: 13,792,105 (GRCm39) |
P283H |
probably damaging |
Het |
| Per2 |
T |
A |
1: 91,351,767 (GRCm39) |
N913I |
possibly damaging |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Reps1 |
C |
T |
10: 17,968,990 (GRCm39) |
R183C |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,496,137 (GRCm39) |
C134S |
|
Het |
| Rpl10-ps3 |
A |
G |
9: 50,256,184 (GRCm39) |
S20P |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,605,595 (GRCm39) |
G932C |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,854,959 (GRCm39) |
Q46R |
|
Het |
| Sh3d19 |
A |
G |
3: 86,014,568 (GRCm39) |
E453G |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,461,548 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,867,657 (GRCm39) |
F129L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,733,207 (GRCm39) |
I399F |
unknown |
Het |
| Slc22a7 |
T |
C |
17: 46,744,951 (GRCm39) |
D365G |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,324,447 (GRCm39) |
M38V |
probably benign |
Het |
| Slc9b2 |
C |
A |
3: 135,031,924 (GRCm39) |
Y261* |
probably null |
Het |
| Spata21 |
A |
G |
4: 140,832,218 (GRCm39) |
I460V |
probably benign |
Het |
| Tes |
C |
G |
6: 17,099,788 (GRCm39) |
P261R |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,724 (GRCm39) |
L718P |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,321 (GRCm39) |
F55L |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,317 (GRCm39) |
L1128P |
probably damaging |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,596 (GRCm39) |
E527G |
probably benign |
Het |
| Zfand4 |
A |
G |
6: 116,250,604 (GRCm39) |
I11M |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,582,888 (GRCm39) |
I512K |
probably benign |
Het |
| Zfp638 |
T |
A |
6: 83,954,143 (GRCm39) |
F1416Y |
probably damaging |
Het |
|
| Other mutations in Tmem135 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Tmem135
|
APN |
7 |
88,800,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Tmem135
|
APN |
7 |
88,797,252 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01933:Tmem135
|
APN |
7 |
88,793,065 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02177:Tmem135
|
APN |
7 |
88,987,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02305:Tmem135
|
APN |
7 |
88,814,331 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02747:Tmem135
|
APN |
7 |
88,793,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02801:Tmem135
|
APN |
7 |
88,803,333 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03353:Tmem135
|
APN |
7 |
88,791,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Skim
|
UTSW |
7 |
88,845,335 (GRCm39) |
nonsense |
probably null |
|
|
R0631:Tmem135
|
UTSW |
7 |
88,792,996 (GRCm39) |
nonsense |
probably null |
|
|
R0657:Tmem135
|
UTSW |
7 |
88,793,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2233:Tmem135
|
UTSW |
7 |
88,803,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3118:Tmem135
|
UTSW |
7 |
88,797,005 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3119:Tmem135
|
UTSW |
7 |
88,797,005 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5094:Tmem135
|
UTSW |
7 |
88,793,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Tmem135
|
UTSW |
7 |
88,845,335 (GRCm39) |
nonsense |
probably null |
|
|
R5248:Tmem135
|
UTSW |
7 |
88,797,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Tmem135
|
UTSW |
7 |
88,954,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5372:Tmem135
|
UTSW |
7 |
88,814,382 (GRCm39) |
splice site |
probably null |
|
|
R5442:Tmem135
|
UTSW |
7 |
88,793,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Tmem135
|
UTSW |
7 |
88,845,330 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5863:Tmem135
|
UTSW |
7 |
88,797,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6158:Tmem135
|
UTSW |
7 |
88,805,652 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6383:Tmem135
|
UTSW |
7 |
88,793,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6416:Tmem135
|
UTSW |
7 |
88,797,002 (GRCm39) |
missense |
probably benign |
|
|
R6659:Tmem135
|
UTSW |
7 |
88,956,372 (GRCm39) |
nonsense |
probably null |
|
|
R6659:Tmem135
|
UTSW |
7 |
88,956,371 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6731:Tmem135
|
UTSW |
7 |
88,893,172 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7545:Tmem135
|
UTSW |
7 |
88,954,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Tmem135
|
UTSW |
7 |
88,805,718 (GRCm39) |
splice site |
probably null |
|
|
R8089:Tmem135
|
UTSW |
7 |
88,805,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8447:Tmem135
|
UTSW |
7 |
88,803,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Tmem135
|
UTSW |
7 |
88,956,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8758:Tmem135
|
UTSW |
7 |
88,954,721 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8806:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8807:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8808:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8835:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8836:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9093:Tmem135
|
UTSW |
7 |
88,797,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9120:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9122:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9308:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9649:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9650:Tmem135
|
UTSW |
7 |
88,797,186 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTATAGTCACTGCTGGGAAC -3'
(R):5'- TGTGGATCCAGACTGACCTG -3'
Sequencing Primer
(F):5'- GGGAACAAAAGAGTAACATCATTTCC -3'
(R):5'- GGATCCAGACTGACCTGATTCTCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation