Incidental Mutation 'R8089:Tmem135'
ID |
629844 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem135
|
Ensembl Gene |
ENSMUSG00000039428 |
Gene Name |
transmembrane protein 135 |
Synonyms |
2810439K08Rik |
MMRRC Submission |
067522-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R8089 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
88788922-89053430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88805703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 234
(C234R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041968]
[ENSMUST00000117852]
|
AlphaFold |
Q9CYV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041968
AA Change: C234R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000042783 Gene: ENSMUSG00000039428 AA Change: C234R
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 damaging
Transcript: ENSMUST00000117852
AA Change: C234R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114097 Gene: ENSMUSG00000039428 AA Change: C234R
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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 94.7%
|
Validation Efficiency |
93% (54/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,104,383 (GRCm39) |
V768I |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,757,780 (GRCm39) |
T1323I |
probably benign |
Het |
Adamtsl2 |
A |
G |
2: 26,994,809 (GRCm39) |
M828V |
probably benign |
Het |
Agmo |
A |
G |
12: 37,397,306 (GRCm39) |
D153G |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,260,340 (GRCm39) |
V185D |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,595,968 (GRCm39) |
N414D |
probably damaging |
Het |
Bin1 |
T |
A |
18: 32,562,236 (GRCm39) |
|
probably null |
Het |
Ccar1 |
C |
A |
10: 62,626,770 (GRCm39) |
M1I |
probably null |
Het |
Cdh26 |
T |
A |
2: 178,099,370 (GRCm39) |
|
probably null |
Het |
Csmd3 |
C |
T |
15: 47,532,603 (GRCm39) |
D1620N |
|
Het |
Dennd4a |
A |
T |
9: 64,756,457 (GRCm39) |
N204I |
probably damaging |
Het |
Dgkb |
G |
A |
12: 38,234,949 (GRCm39) |
S438N |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,021,897 (GRCm39) |
M1604T |
probably damaging |
Het |
Fhad1 |
T |
A |
4: 141,684,971 (GRCm39) |
D456V |
probably damaging |
Het |
Gcfc2 |
C |
T |
6: 81,902,771 (GRCm39) |
T86M |
probably damaging |
Het |
Idua |
T |
A |
5: 108,829,646 (GRCm39) |
M503K |
probably damaging |
Het |
Ift70b |
T |
C |
2: 75,767,647 (GRCm39) |
T369A |
possibly damaging |
Het |
Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,740,750 (GRCm39) |
S4676T |
unknown |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Lmtk2 |
G |
A |
5: 144,093,718 (GRCm39) |
V232M |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,722,567 (GRCm39) |
V243A |
possibly damaging |
Het |
Moxd1 |
A |
G |
10: 24,157,417 (GRCm39) |
T350A |
probably benign |
Het |
Nalcn |
A |
T |
14: 123,537,372 (GRCm39) |
W1175R |
probably damaging |
Het |
Or10u4 |
A |
T |
10: 129,802,566 (GRCm39) |
M1K |
probably null |
Het |
Or5h27 |
T |
G |
16: 59,006,073 (GRCm39) |
I258L |
unknown |
Het |
Or8g26 |
T |
A |
9: 39,095,927 (GRCm39) |
V148E |
probably damaging |
Het |
Pacsin2 |
A |
G |
15: 83,263,897 (GRCm39) |
I380T |
probably benign |
Het |
Plcd1 |
A |
C |
9: 118,905,060 (GRCm39) |
C214G |
possibly damaging |
Het |
Poglut3 |
C |
T |
9: 53,307,262 (GRCm39) |
A402V |
probably benign |
Het |
Ptprm |
C |
A |
17: 66,990,483 (GRCm39) |
W1385L |
possibly damaging |
Het |
Rab22a |
C |
T |
2: 173,530,013 (GRCm39) |
Q64* |
probably null |
Het |
Rasa2 |
G |
T |
9: 96,435,177 (GRCm39) |
H604Q |
probably benign |
Het |
Rasal1 |
G |
A |
5: 120,809,643 (GRCm39) |
G516D |
probably damaging |
Het |
Rasgrp3 |
A |
T |
17: 75,804,056 (GRCm39) |
I120L |
possibly damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rgs12 |
T |
C |
5: 35,177,692 (GRCm39) |
I742T |
probably damaging |
Het |
Scyl3 |
A |
G |
1: 163,763,996 (GRCm39) |
T121A |
possibly damaging |
Het |
Six5 |
T |
G |
7: 18,828,797 (GRCm39) |
F79C |
probably damaging |
Het |
Tbx3 |
G |
A |
5: 119,818,634 (GRCm39) |
R423H |
probably damaging |
Het |
Terf2ip |
C |
T |
8: 112,738,424 (GRCm39) |
T104M |
probably benign |
Het |
Tnxb |
C |
G |
17: 34,891,763 (GRCm39) |
A702G |
unknown |
Het |
Tspan1 |
T |
C |
4: 116,021,532 (GRCm39) |
K83R |
probably null |
Het |
Ttn |
C |
T |
2: 76,728,406 (GRCm39) |
|
probably null |
Het |
Usp5 |
A |
T |
6: 124,797,373 (GRCm39) |
|
probably null |
Het |
Vmn1r27 |
T |
A |
6: 58,192,194 (GRCm39) |
Y270F |
possibly damaging |
Het |
Vmn2r110 |
G |
A |
17: 20,803,807 (GRCm39) |
T256I |
probably benign |
Het |
Zfp831 |
T |
A |
2: 174,486,717 (GRCm39) |
L464Q |
possibly damaging |
Het |
Zscan4-ps3 |
C |
A |
7: 11,346,659 (GRCm39) |
H232N |
probably benign |
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 |
|
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'- GGCAGCAGAACGATATGGTC -3'
(R):5'- AGCAACACTCTTAGCTCTGC -3'
Sequencing Primer
(F):5'- GCAGCAGAACGATATGGTCTTTTC -3'
(R):5'- TTCTGTAGGTCCGACAGAAAGCTG -3'
|
Posted On |
2020-06-30 |