Incidental Mutation 'R6939:Tmem94'
| ID |
540453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem94
|
| Ensembl Gene |
ENSMUSG00000020747 |
| Gene Name |
transmembrane protein 94 |
| Synonyms |
2310067B10Rik |
| MMRRC Submission |
045053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R6939 (G1)
|
| Quality Score |
211.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115656245-115689859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115676656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 54
(S54G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118396
(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: S54G
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: S54G
| 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: S54G
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: S54G
| 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 |
probably benign
Transcript: ENSMUST00000103034
|
| SMART Domains |
Protein: ENSMUSP00000099323
Gene: ENSMUSG00000020747
| 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 |
possibly damaging
Transcript: ENSMUST00000136720
AA Change: S54G
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122111
Gene: ENSMUSG00000020747
AA Change: S54G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141871
AA Change: S54G
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118396
Gene: ENSMUSG00000020747
AA Change: S54G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
84 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
G |
A |
15: 60,792,244 (GRCm39) |
P128L |
probably damaging |
Het |
| Acsm3 |
T |
C |
7: 119,377,678 (GRCm39) |
V401A |
probably damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,594,227 (GRCm39) |
N93K |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,489,760 (GRCm39) |
|
probably null |
Het |
| Camk2a |
A |
G |
18: 61,091,226 (GRCm39) |
E236G |
probably damaging |
Het |
| Cav2 |
C |
A |
6: 17,281,410 (GRCm39) |
D17E |
possibly damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,533,607 (GRCm39) |
S520G |
probably benign |
Het |
| Chd4 |
C |
A |
6: 125,083,501 (GRCm39) |
H674Q |
probably damaging |
Het |
| Clrn2 |
A |
T |
5: 45,611,096 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
A |
C |
11: 101,077,337 (GRCm39) |
I1000L |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,631,778 (GRCm39) |
T140A |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,966,208 (GRCm39) |
|
probably null |
Het |
| Dcdc2c |
G |
T |
12: 28,591,496 (GRCm39) |
Q131K |
probably benign |
Het |
| Dmpk |
T |
A |
7: 18,822,149 (GRCm39) |
V369E |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,070,297 (GRCm39) |
W1503R |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,120,945 (GRCm39) |
F625L |
possibly damaging |
Het |
| Dok2 |
T |
C |
14: 71,013,045 (GRCm39) |
V71A |
probably benign |
Het |
| Dqx1 |
A |
T |
6: 83,036,446 (GRCm39) |
Q150L |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,304,189 (GRCm39) |
I740T |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,143,300 (GRCm39) |
W4183* |
probably null |
Het |
| Fkrp |
C |
T |
7: 16,545,751 (GRCm39) |
R37Q |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,341,774 (GRCm39) |
K1356E |
probably benign |
Het |
| Fus |
A |
T |
7: 127,571,741 (GRCm39) |
|
probably benign |
Het |
| Gabarapl2 |
C |
A |
8: 112,669,201 (GRCm39) |
S53* |
probably null |
Het |
| Gjd3 |
A |
C |
11: 102,691,733 (GRCm39) |
M90R |
probably damaging |
Het |
| Gm30083 |
C |
T |
14: 33,725,557 (GRCm39) |
|
probably null |
Het |
| Gm7356 |
T |
A |
17: 14,221,387 (GRCm39) |
Y214F |
probably benign |
Het |
| Hexd |
A |
T |
11: 121,113,164 (GRCm39) |
D533V |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,414,930 (GRCm39) |
A1364V |
probably damaging |
Het |
| Ighmbp2 |
A |
T |
19: 3,326,907 (GRCm39) |
F186Y |
probably damaging |
Het |
| Inpp5e |
C |
A |
2: 26,297,774 (GRCm39) |
|
probably null |
Het |
| Iqcb1 |
A |
G |
16: 36,660,274 (GRCm39) |
T146A |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,297,588 (GRCm39) |
W284R |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,593,824 (GRCm39) |
M71K |
probably damaging |
Het |
| Ksr2 |
T |
A |
5: 117,903,626 (GRCm39) |
*952R |
probably null |
Het |
| Ldlrap1 |
C |
A |
4: 134,495,285 (GRCm39) |
|
probably benign |
Het |
| Mpdu1 |
G |
A |
11: 69,548,881 (GRCm39) |
|
probably benign |
Het |
| Mrgprh |
A |
T |
17: 13,095,822 (GRCm39) |
T21S |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,549,833 (GRCm39) |
T5487S |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,490,737 (GRCm39) |
|
probably null |
Het |
| Napa |
T |
C |
7: 15,849,182 (GRCm39) |
C241R |
possibly damaging |
Het |
| Or10ab4 |
C |
A |
7: 107,654,312 (GRCm39) |
A41E |
possibly damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,598,187 (GRCm39) |
T18A |
possibly damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,648 (GRCm39) |
Y95* |
probably null |
Het |
| Pla2g4f |
A |
T |
2: 120,137,782 (GRCm39) |
L326Q |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,675,366 (GRCm39) |
T487A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,787,291 (GRCm39) |
Y1029N |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,289,858 (GRCm39) |
T707A |
possibly damaging |
Het |
| Raet1e |
T |
A |
10: 22,050,256 (GRCm39) |
M13K |
possibly damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
| Rmi1 |
A |
G |
13: 58,557,169 (GRCm39) |
I473V |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,815,437 (GRCm39) |
F186L |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,751,751 (GRCm39) |
M3672L |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,431,949 (GRCm39) |
C890S |
possibly damaging |
Het |
| Spata31d1e |
T |
A |
13: 59,889,872 (GRCm39) |
K231N |
possibly damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,185,024 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,259,293 (GRCm39) |
N1530S |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tnk2 |
T |
C |
16: 32,482,696 (GRCm39) |
V41A |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,045 (GRCm39) |
T462A |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,556,847 (GRCm39) |
T61A |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,713,724 (GRCm39) |
N17D |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,473 (GRCm39) |
C514* |
probably null |
Het |
| Zfp866 |
G |
T |
8: 70,218,871 (GRCm39) |
Q250K |
probably 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 |
|
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 |
|
R7290:Tmem94
|
UTSW |
11 |
115,677,082 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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'- CTCATCTGGGTAGGCAGAGAAG -3'
(R):5'- AGAGGGGTCTCCTTCTATGCTC -3'
Sequencing Primer
(F):5'- AATAGGGGGCCTCAACTGAGATTTC -3'
(R):5'- TATGCTCGGGTCACTACAGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation