Incidental Mutation 'R7290:Tmem94'
ID |
566344 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem94
|
Ensembl Gene |
ENSMUSG00000020747 |
Gene Name |
transmembrane protein 94 |
Synonyms |
2310067B10Rik |
MMRRC Submission |
045362-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.276)
|
Stock # |
R7290 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
115656245-115689859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 115677082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 118
(R118L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093912]
[ENSMUST00000103033]
[ENSMUST00000103034]
[ENSMUST00000125918]
[ENSMUST00000136720]
[ENSMUST00000141871]
|
AlphaFold |
Q7TSH8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093912
AA Change: R118L
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000091440 Gene: ENSMUSG00000020747 AA Change: R118L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
94 |
113 |
N/A |
INTRINSIC |
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
low complexity region
|
217 |
226 |
N/A |
INTRINSIC |
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
low complexity region
|
460 |
470 |
N/A |
INTRINSIC |
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
low complexity region
|
920 |
929 |
N/A |
INTRINSIC |
SCOP:d1eula_
|
979 |
1282 |
6e-10 |
SMART |
transmembrane domain
|
1310 |
1332 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103033
AA Change: R118L
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099322 Gene: ENSMUSG00000020747 AA Change: R118L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
94 |
113 |
N/A |
INTRINSIC |
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
low complexity region
|
217 |
226 |
N/A |
INTRINSIC |
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
low complexity region
|
460 |
470 |
N/A |
INTRINSIC |
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
low complexity region
|
920 |
929 |
N/A |
INTRINSIC |
low complexity region
|
1096 |
1109 |
N/A |
INTRINSIC |
Pfam:Cation_ATPase_C
|
1120 |
1334 |
5.5e-10 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000103034
AA Change: R74L
|
SMART Domains |
Protein: ENSMUSP00000099323 Gene: ENSMUSG00000020747 AA Change: R74L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
52 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125918
|
SMART Domains |
Protein: ENSMUSP00000116666 Gene: ENSMUSG00000020747
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
low complexity region
|
272 |
285 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136720
|
SMART Domains |
Protein: ENSMUSP00000122111 Gene: ENSMUSG00000020747
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141871
|
SMART Domains |
Protein: ENSMUSP00000118396 Gene: ENSMUSG00000020747
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3043 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
A |
11: 109,921,714 (GRCm39) |
M1447L |
probably benign |
Het |
Adam30 |
G |
A |
3: 98,070,257 (GRCm39) |
V697I |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,277,452 (GRCm39) |
N689D |
probably benign |
Het |
Adamts15 |
T |
C |
9: 30,813,906 (GRCm39) |
K753R |
probably benign |
Het |
Adra2a |
T |
C |
19: 54,034,835 (GRCm39) |
F64L |
probably damaging |
Het |
Ankub1 |
A |
G |
3: 57,580,345 (GRCm39) |
L104P |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,988,719 (GRCm39) |
V10A |
probably benign |
Het |
Atad2 |
A |
T |
15: 57,962,047 (GRCm39) |
N1165K |
probably benign |
Het |
Atp6v0d2 |
T |
A |
4: 19,880,060 (GRCm39) |
D279V |
probably benign |
Het |
Cadps |
A |
T |
14: 12,616,099 (GRCm38) |
D310E |
probably damaging |
Het |
Caskin2 |
T |
C |
11: 115,695,615 (GRCm39) |
I249V |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,212,620 (GRCm39) |
N1598S |
probably benign |
Het |
Cep250 |
A |
T |
2: 155,834,682 (GRCm39) |
Q2202H |
probably benign |
Het |
Ces5a |
T |
A |
8: 94,261,311 (GRCm39) |
T35S |
probably damaging |
Het |
Cnot11 |
G |
A |
1: 39,579,020 (GRCm39) |
W295* |
probably null |
Het |
Cntnap5a |
G |
T |
1: 116,149,619 (GRCm39) |
W565L |
probably damaging |
Het |
Dgka |
T |
C |
10: 128,569,468 (GRCm39) |
E148G |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,455,739 (GRCm39) |
D955N |
probably benign |
Het |
Erbin |
G |
A |
13: 103,998,834 (GRCm39) |
T184I |
probably damaging |
Het |
Fam20c |
G |
T |
5: 138,793,309 (GRCm39) |
G477W |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgfr4 |
T |
C |
13: 55,309,262 (GRCm39) |
V433A |
probably benign |
Het |
Gal3st1 |
A |
T |
11: 3,948,093 (GRCm39) |
Q100L |
possibly damaging |
Het |
Gfra2 |
T |
C |
14: 71,163,380 (GRCm39) |
F221S |
probably damaging |
Het |
Gm19965 |
G |
A |
1: 116,748,921 (GRCm39) |
V201M |
|
Het |
Gnb1l |
A |
T |
16: 18,382,806 (GRCm39) |
T282S |
probably benign |
Het |
Gpr171 |
A |
T |
3: 59,005,147 (GRCm39) |
N209K |
probably benign |
Het |
Greb1 |
G |
A |
12: 16,761,739 (GRCm39) |
T547I |
probably damaging |
Het |
Ifi214 |
A |
T |
1: 173,357,097 (GRCm39) |
V2E |
probably benign |
Het |
Ighv1-71 |
T |
C |
12: 115,706,267 (GRCm39) |
M1V |
probably null |
Het |
Itm2b |
C |
T |
14: 73,605,785 (GRCm39) |
G67D |
probably damaging |
Het |
Kif21a |
A |
T |
15: 90,851,432 (GRCm39) |
C995* |
probably null |
Het |
Kifc2 |
A |
T |
15: 76,544,904 (GRCm39) |
Y13F |
probably damaging |
Het |
Lamb1 |
T |
A |
12: 31,315,595 (GRCm39) |
V59D |
probably benign |
Het |
Lhx1 |
A |
T |
11: 84,412,703 (GRCm39) |
D163E |
probably damaging |
Het |
Lrrc1 |
A |
T |
9: 77,365,121 (GRCm39) |
Y187N |
probably benign |
Het |
Map3k1 |
C |
A |
13: 111,904,645 (GRCm39) |
V380F |
probably damaging |
Het |
Mapk11 |
T |
C |
15: 89,028,511 (GRCm39) |
D283G |
probably damaging |
Het |
Mccc2 |
G |
T |
13: 100,091,207 (GRCm39) |
A430D |
probably damaging |
Het |
Mest |
A |
G |
6: 30,747,158 (GRCm39) |
N340S |
unknown |
Het |
Mms22l |
T |
C |
4: 24,517,139 (GRCm39) |
L340P |
probably benign |
Het |
Mrnip |
A |
G |
11: 50,087,808 (GRCm39) |
Y110C |
possibly damaging |
Het |
Mtmr4 |
A |
G |
11: 87,502,063 (GRCm39) |
T706A |
probably benign |
Het |
Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
Ncstn |
A |
G |
1: 171,900,373 (GRCm39) |
F234S |
probably benign |
Het |
Nrp1 |
T |
C |
8: 129,202,777 (GRCm39) |
|
probably null |
Het |
Nup37 |
T |
G |
10: 88,010,356 (GRCm39) |
C217G |
probably damaging |
Het |
Or8g22 |
A |
G |
9: 38,958,694 (GRCm39) |
L7P |
unknown |
Het |
Pdzrn3 |
T |
C |
6: 101,128,206 (GRCm39) |
N820S |
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,587,225 (GRCm39) |
F117Y |
possibly damaging |
Het |
Phip |
A |
T |
9: 82,753,346 (GRCm39) |
F1799L |
possibly damaging |
Het |
Ppm1f |
T |
A |
16: 16,728,819 (GRCm39) |
F74I |
probably benign |
Het |
Prpf8 |
C |
A |
11: 75,384,783 (GRCm39) |
N775K |
possibly damaging |
Het |
Ptdss2 |
T |
C |
7: 140,731,693 (GRCm39) |
I167T |
possibly damaging |
Het |
Ptpn18 |
G |
A |
1: 34,501,892 (GRCm39) |
|
probably null |
Het |
Rbl2 |
C |
A |
8: 91,841,669 (GRCm39) |
A955D |
probably benign |
Het |
Rgl1 |
A |
G |
1: 152,420,146 (GRCm39) |
S366P |
possibly damaging |
Het |
Rit2 |
A |
T |
18: 31,376,221 (GRCm39) |
M38K |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,801,408 (GRCm39) |
M1011V |
probably benign |
Het |
Senp6 |
A |
T |
9: 80,043,797 (GRCm39) |
E809D |
probably benign |
Het |
Stard3 |
G |
A |
11: 98,269,045 (GRCm39) |
|
probably null |
Het |
Taar3 |
T |
G |
10: 23,826,298 (GRCm39) |
Y281* |
probably null |
Het |
Tacc2 |
G |
T |
7: 130,331,103 (GRCm39) |
K352N |
probably benign |
Het |
Tamalin |
G |
A |
15: 101,129,419 (GRCm39) |
S234N |
probably damaging |
Het |
Tasor |
T |
A |
14: 27,160,610 (GRCm39) |
I124N |
probably damaging |
Het |
Tdpoz4 |
G |
A |
3: 93,704,155 (GRCm39) |
V151I |
not run |
Het |
Tenm2 |
A |
G |
11: 35,914,298 (GRCm39) |
L2413P |
probably damaging |
Het |
Tgm6 |
T |
C |
2: 129,983,110 (GRCm39) |
V233A |
probably damaging |
Het |
Tlx3 |
G |
A |
11: 33,153,514 (GRCm39) |
|
probably benign |
Het |
Trim23 |
C |
A |
13: 104,323,941 (GRCm39) |
H133Q |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,640,356 (GRCm39) |
D1421V |
probably damaging |
Het |
Vmn1r172 |
A |
G |
7: 23,360,048 (GRCm39) |
N311S |
unknown |
Het |
Vps25 |
T |
A |
11: 101,149,775 (GRCm39) |
L153Q |
probably damaging |
Het |
Wbp1l |
G |
T |
19: 46,611,876 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
A |
G |
18: 44,970,558 (GRCm39) |
I291V |
possibly damaging |
Het |
Zfp2 |
A |
G |
11: 50,791,570 (GRCm39) |
C158R |
probably damaging |
Het |
Zfp786 |
G |
A |
6: 47,796,929 (GRCm39) |
P670S |
probably damaging |
Het |
Zfp827 |
G |
A |
8: 79,916,442 (GRCm39) |
R339H |
possibly damaging |
Het |
Zmym6 |
C |
T |
4: 127,017,294 (GRCm39) |
A1025V |
possibly damaging |
Het |
|
Other mutations in Tmem94 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00885:Tmem94
|
APN |
11 |
115,686,154 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01086:Tmem94
|
APN |
11 |
115,681,110 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01314:Tmem94
|
APN |
11 |
115,680,835 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02123:Tmem94
|
APN |
11 |
115,678,364 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02355:Tmem94
|
APN |
11 |
115,685,571 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02362:Tmem94
|
APN |
11 |
115,685,571 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02366:Tmem94
|
APN |
11 |
115,688,258 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02450:Tmem94
|
APN |
11 |
115,683,897 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02623:Tmem94
|
APN |
11 |
115,687,227 (GRCm39) |
nonsense |
probably null |
|
IGL02816:Tmem94
|
APN |
11 |
115,679,530 (GRCm39) |
splice site |
probably null |
|
IGL02836:Tmem94
|
APN |
11 |
115,683,765 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03061:Tmem94
|
APN |
11 |
115,683,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03109:Tmem94
|
APN |
11 |
115,683,224 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03255:Tmem94
|
APN |
11 |
115,682,894 (GRCm39) |
unclassified |
probably benign |
|
IGL03397:Tmem94
|
APN |
11 |
115,678,394 (GRCm39) |
unclassified |
probably benign |
|
capitulate
|
UTSW |
11 |
115,687,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Tmem94
|
UTSW |
11 |
115,687,550 (GRCm39) |
unclassified |
probably benign |
|
R0336:Tmem94
|
UTSW |
11 |
115,678,211 (GRCm39) |
missense |
probably benign |
|
R0370:Tmem94
|
UTSW |
11 |
115,679,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R0494:Tmem94
|
UTSW |
11 |
115,685,607 (GRCm39) |
splice site |
probably null |
|
R0638:Tmem94
|
UTSW |
11 |
115,682,886 (GRCm39) |
splice site |
probably null |
|
R0647:Tmem94
|
UTSW |
11 |
115,687,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R0900:Tmem94
|
UTSW |
11 |
115,682,804 (GRCm39) |
missense |
probably benign |
0.00 |
R1469:Tmem94
|
UTSW |
11 |
115,685,917 (GRCm39) |
unclassified |
probably benign |
|
R1616:Tmem94
|
UTSW |
11 |
115,686,971 (GRCm39) |
critical splice donor site |
probably null |
|
R1621:Tmem94
|
UTSW |
11 |
115,676,671 (GRCm39) |
missense |
probably benign |
|
R1682:Tmem94
|
UTSW |
11 |
115,681,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R1723:Tmem94
|
UTSW |
11 |
115,685,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1760:Tmem94
|
UTSW |
11 |
115,687,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Tmem94
|
UTSW |
11 |
115,684,039 (GRCm39) |
nonsense |
probably null |
|
R1926:Tmem94
|
UTSW |
11 |
115,683,726 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1956:Tmem94
|
UTSW |
11 |
115,679,500 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2033:Tmem94
|
UTSW |
11 |
115,685,154 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2135:Tmem94
|
UTSW |
11 |
115,685,575 (GRCm39) |
missense |
probably benign |
|
R2419:Tmem94
|
UTSW |
11 |
115,687,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R2511:Tmem94
|
UTSW |
11 |
115,682,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R3932:Tmem94
|
UTSW |
11 |
115,680,080 (GRCm39) |
missense |
probably benign |
0.00 |
R4708:Tmem94
|
UTSW |
11 |
115,677,121 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4812:Tmem94
|
UTSW |
11 |
115,686,938 (GRCm39) |
nonsense |
probably null |
|
R5026:Tmem94
|
UTSW |
11 |
115,683,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R5714:Tmem94
|
UTSW |
11 |
115,684,016 (GRCm39) |
missense |
probably benign |
0.04 |
R5716:Tmem94
|
UTSW |
11 |
115,683,254 (GRCm39) |
missense |
probably benign |
0.17 |
R6180:Tmem94
|
UTSW |
11 |
115,681,857 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6295:Tmem94
|
UTSW |
11 |
115,687,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R6594:Tmem94
|
UTSW |
11 |
115,689,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R6696:Tmem94
|
UTSW |
11 |
115,682,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R6883:Tmem94
|
UTSW |
11 |
115,687,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R6939:Tmem94
|
UTSW |
11 |
115,676,656 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7060:Tmem94
|
UTSW |
11 |
115,683,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7171:Tmem94
|
UTSW |
11 |
115,681,781 (GRCm39) |
splice site |
probably null |
|
R7181:Tmem94
|
UTSW |
11 |
115,685,600 (GRCm39) |
missense |
probably damaging |
0.97 |
R7292:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7345:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7346:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7378:Tmem94
|
UTSW |
11 |
115,685,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7380:Tmem94
|
UTSW |
11 |
115,686,971 (GRCm39) |
critical splice donor site |
probably null |
|
R7460:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7461:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7463:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7464:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7465:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7673:Tmem94
|
UTSW |
11 |
115,679,204 (GRCm39) |
missense |
probably benign |
0.05 |
R7995:Tmem94
|
UTSW |
11 |
115,688,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Tmem94
|
UTSW |
11 |
115,679,218 (GRCm39) |
critical splice donor site |
probably null |
|
R8447:Tmem94
|
UTSW |
11 |
115,688,696 (GRCm39) |
missense |
probably benign |
|
R8447:Tmem94
|
UTSW |
11 |
115,688,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8825:Tmem94
|
UTSW |
11 |
115,688,201 (GRCm39) |
missense |
probably benign |
0.00 |
R8910:Tmem94
|
UTSW |
11 |
115,688,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R9226:Tmem94
|
UTSW |
11 |
115,683,191 (GRCm39) |
missense |
probably damaging |
1.00 |
RF003:Tmem94
|
UTSW |
11 |
115,686,958 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Tmem94
|
UTSW |
11 |
115,677,079 (GRCm39) |
missense |
probably benign |
0.34 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGAGGAGCTGTAGTGACC -3'
(R):5'- CCAGTACCAGTGGACAAGACAG -3'
Sequencing Primer
(F):5'- CTGTAGTGACCCGAGCATAG -3'
(R):5'- GGGGGTAAAAACTCTCAACTTCC -3'
|
Posted On |
2019-06-26 |