Incidental Mutation 'R7626:Tmem135'
| ID |
628285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem135
|
| Ensembl Gene |
ENSMUSG00000039428 |
| Gene Name |
transmembrane protein 135 |
| Synonyms |
2810439K08Rik |
| MMRRC Submission |
045690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R7626 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
88788922-89053430 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 88805718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041968]
[ENSMUST00000041968]
[ENSMUST00000117852]
[ENSMUST00000117852]
|
| AlphaFold |
Q9CYV5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041968
|
| SMART Domains |
Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
| 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 null
Transcript: ENSMUST00000041968
|
| SMART Domains |
Protein: ENSMUSP00000042783
Gene: ENSMUSG00000039428
| 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 null
Transcript: ENSMUST00000117852
|
| SMART Domains |
Protein: ENSMUSP00000114097
Gene: ENSMUSG00000039428
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117852
|
| SMART Domains |
Protein: ENSMUSP00000114097
Gene: ENSMUSG00000039428
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Alox5 |
T |
C |
6: 116,390,756 (GRCm39) |
D465G |
possibly damaging |
Het |
| Arhgef16 |
T |
A |
4: 154,367,339 (GRCm39) |
K355N |
possibly damaging |
Het |
| Camkk2 |
T |
A |
5: 122,902,363 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
C |
T |
4: 83,499,012 (GRCm39) |
Q237* |
probably null |
Het |
| Ces2b |
T |
C |
8: 105,564,017 (GRCm39) |
Y464H |
possibly damaging |
Het |
| Cntfr |
A |
G |
4: 41,662,013 (GRCm39) |
F243S |
possibly damaging |
Het |
| Crip3 |
A |
T |
17: 46,740,791 (GRCm39) |
R65S |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,319,340 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Degs2 |
T |
C |
12: 108,658,332 (GRCm39) |
S216G |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,035,861 (GRCm39) |
I2295V |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,389,511 (GRCm39) |
S794P |
probably damaging |
Het |
| Eri1 |
A |
C |
8: 35,941,554 (GRCm39) |
Y264* |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,718,189 (GRCm39) |
L179P |
probably damaging |
Het |
| F5 |
T |
G |
1: 164,014,481 (GRCm39) |
M584R |
possibly damaging |
Het |
| Fam98c |
G |
T |
7: 28,852,248 (GRCm39) |
R104S |
probably damaging |
Het |
| Flad1 |
A |
T |
3: 89,310,718 (GRCm39) |
I443N |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,993,899 (GRCm39) |
E43G |
probably benign |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Kcnj3 |
T |
A |
2: 55,484,833 (GRCm39) |
C310* |
probably null |
Het |
| Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,518,882 (GRCm39) |
V1896A |
possibly damaging |
Het |
| Lrfn4 |
C |
A |
19: 4,663,679 (GRCm39) |
R285L |
probably damaging |
Het |
| Ltb4r2 |
T |
A |
14: 56,000,338 (GRCm39) |
S320T |
probably damaging |
Het |
| Mmd |
G |
T |
11: 90,148,378 (GRCm39) |
R20L |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,608,661 (GRCm39) |
S2146P |
probably benign |
Het |
| Nop14 |
A |
G |
5: 34,809,135 (GRCm39) |
F319L |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,648,630 (GRCm39) |
T787K |
probably benign |
Het |
| Or10q12 |
T |
G |
19: 13,745,709 (GRCm39) |
M1R |
probably null |
Het |
| Or2t46 |
A |
C |
11: 58,471,999 (GRCm39) |
T110P |
probably damaging |
Het |
| Or6c208 |
T |
G |
10: 129,223,726 (GRCm39) |
C75G |
possibly damaging |
Het |
| Patj |
T |
C |
4: 98,435,224 (GRCm39) |
V2A |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,898,032 (GRCm39) |
H52R |
probably benign |
Het |
| Plekhg6 |
A |
T |
6: 125,340,631 (GRCm39) |
D576E |
probably benign |
Het |
| Plekhn1 |
T |
A |
4: 156,310,110 (GRCm39) |
H68L |
probably benign |
Het |
| Ppp1r37 |
T |
A |
7: 19,295,778 (GRCm39) |
I60F |
probably damaging |
Het |
| Ppp2r1b |
C |
T |
9: 50,789,476 (GRCm39) |
T513M |
possibly damaging |
Het |
| Pramel32 |
A |
T |
4: 88,548,279 (GRCm39) |
I42N |
probably damaging |
Het |
| Rhobtb2 |
C |
A |
14: 70,034,386 (GRCm39) |
A280S |
probably damaging |
Het |
| Rnf40 |
A |
G |
7: 127,189,047 (GRCm39) |
D140G |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,555,397 (GRCm39) |
L653P |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,074,995 (GRCm39) |
D500E |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,713,377 (GRCm39) |
D383E |
probably benign |
Het |
| Smarcad1 |
C |
A |
6: 65,073,033 (GRCm39) |
S604R |
possibly damaging |
Het |
| St7 |
A |
G |
6: 17,934,216 (GRCm39) |
T533A |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,122,451 (GRCm39) |
T442S |
probably benign |
Het |
| Tbx2 |
A |
G |
11: 85,731,622 (GRCm39) |
T640A |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,542,221 (GRCm39) |
N1948K |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,551,268 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
T |
15: 76,518,136 (GRCm39) |
L582Q |
probably null |
Het |
| Unc13c |
T |
A |
9: 73,641,799 (GRCm39) |
K1231N |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,192 (GRCm39) |
Y729* |
probably null |
Het |
| Zcchc2 |
A |
G |
1: 105,928,742 (GRCm39) |
T334A |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,173,917 (GRCm39) |
L136P |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,437 (GRCm39) |
C597* |
probably null |
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 |
|
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 |
|
R8703:Tmem135
|
UTSW |
7 |
88,808,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGGCAGCAGAACGATATGGTC -3'
(R):5'- AACACTCTTAGCTCTGCTTCTGTAG -3'
Sequencing Primer
(F):5'- GCAGCAGAACGATATGGTCTTTTC -3'
(R):5'- TTCTGTAGGTCCGACAGAAAGCTG -3'
|
| Posted On |
2020-02-24 |
Incidental Mutation