Incidental Mutation 'R7292:Tmem94'
ID |
566504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem94
|
Ensembl Gene |
ENSMUSG00000020747 |
Gene Name |
transmembrane protein 94 |
Synonyms |
2310067B10Rik |
MMRRC Submission |
045397-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R7292 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.0%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
A |
17: 9,215,861 (GRCm39) |
C322* |
probably null |
Het |
4930553M12Rik |
G |
A |
4: 88,786,568 (GRCm39) |
R17C |
unknown |
Het |
Abcc8 |
G |
A |
7: 45,784,950 (GRCm39) |
T726I |
probably benign |
Het |
Adamts18 |
T |
C |
8: 114,436,277 (GRCm39) |
T981A |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,570,957 (GRCm39) |
C507R |
probably damaging |
Het |
Bloc1s6 |
T |
A |
2: 122,584,615 (GRCm39) |
D63E |
probably damaging |
Het |
Cdc25b |
C |
T |
2: 131,033,093 (GRCm39) |
R135W |
probably damaging |
Het |
Cdca2 |
G |
T |
14: 67,915,326 (GRCm39) |
Y644* |
probably null |
Het |
Ceacam10 |
G |
T |
7: 24,477,775 (GRCm39) |
G97C |
probably damaging |
Het |
Cenpf |
G |
A |
1: 189,382,891 (GRCm39) |
L2668F |
probably damaging |
Het |
Cog4 |
A |
G |
8: 111,608,460 (GRCm39) |
D774G |
probably damaging |
Het |
Col11a2 |
G |
A |
17: 34,270,482 (GRCm39) |
G511E |
unknown |
Het |
Col19a1 |
T |
A |
1: 24,569,089 (GRCm39) |
I220F |
unknown |
Het |
Cubn |
G |
T |
2: 13,429,550 (GRCm39) |
T1317K |
probably damaging |
Het |
Dnaaf5 |
T |
C |
5: 139,136,072 (GRCm39) |
L24P |
unknown |
Het |
Eif4a3l2 |
G |
A |
6: 116,528,438 (GRCm39) |
R105Q |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Foxn4 |
C |
A |
5: 114,396,716 (GRCm39) |
E256* |
probably null |
Het |
Gm5930 |
A |
G |
14: 44,574,014 (GRCm39) |
S108P |
probably damaging |
Het |
Gnl3 |
A |
G |
14: 30,735,189 (GRCm39) |
S468P |
probably benign |
Het |
Gzmb |
A |
T |
14: 56,499,576 (GRCm39) |
S11T |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,608,880 (GRCm39) |
|
probably null |
Het |
Ifi206 |
A |
G |
1: 173,301,428 (GRCm39) |
L750P |
unknown |
Het |
Ifi213 |
T |
A |
1: 173,422,691 (GRCm39) |
E58V |
probably damaging |
Het |
Igkv4-78 |
A |
T |
6: 69,036,752 (GRCm39) |
Y94N |
probably damaging |
Het |
Igsf9 |
G |
T |
1: 172,319,324 (GRCm39) |
|
probably null |
Het |
Itpr2 |
G |
T |
6: 146,060,447 (GRCm39) |
L2490M |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,018,854 (GRCm39) |
F862S |
probably damaging |
Het |
Kif19b |
A |
G |
5: 140,457,425 (GRCm39) |
D398G |
probably benign |
Het |
Meis1 |
A |
G |
11: 18,961,351 (GRCm39) |
I174T |
probably damaging |
Het |
Micu3 |
A |
G |
8: 40,835,166 (GRCm39) |
Q507R |
probably benign |
Het |
Mpp4 |
C |
T |
1: 59,182,969 (GRCm39) |
E313K |
possibly damaging |
Het |
Nfatc4 |
G |
A |
14: 56,062,512 (GRCm39) |
E7K |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,727,486 (GRCm39) |
Y35N |
probably damaging |
Het |
Or9s18 |
T |
A |
13: 65,300,656 (GRCm39) |
V206D |
possibly damaging |
Het |
Osbpl5 |
G |
A |
7: 143,255,015 (GRCm39) |
P470S |
probably damaging |
Het |
Pak6 |
A |
G |
2: 118,524,072 (GRCm39) |
D409G |
possibly damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,361,986 (GRCm39) |
M553K |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,089,871 (GRCm39) |
N151D |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,533,862 (GRCm39) |
W160R |
probably damaging |
Het |
Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
Prl2a1 |
A |
G |
13: 27,991,353 (GRCm39) |
|
probably null |
Het |
Prob1 |
G |
A |
18: 35,787,603 (GRCm39) |
P217L |
possibly damaging |
Het |
Ramp1 |
A |
C |
1: 91,124,499 (GRCm39) |
H20P |
probably benign |
Het |
Rbm47 |
T |
A |
5: 66,184,093 (GRCm39) |
E170V |
possibly damaging |
Het |
Relch |
G |
T |
1: 105,649,141 (GRCm39) |
|
probably null |
Het |
Rpn1 |
C |
T |
6: 88,067,066 (GRCm39) |
P142L |
probably damaging |
Het |
Rsu1 |
C |
T |
2: 13,174,827 (GRCm39) |
R238H |
probably damaging |
Het |
Sh3rf3 |
C |
T |
10: 58,907,795 (GRCm39) |
P441L |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,650,438 (GRCm39) |
S559G |
possibly damaging |
Het |
Slc35f5 |
C |
A |
1: 125,500,222 (GRCm39) |
S245R |
probably damaging |
Het |
Spcs3 |
T |
C |
8: 54,979,554 (GRCm39) |
N76D |
probably benign |
Het |
Spmip5 |
A |
T |
19: 58,777,539 (GRCm39) |
Y90* |
probably null |
Het |
Svep1 |
T |
C |
4: 58,111,395 (GRCm39) |
T1075A |
possibly damaging |
Het |
Sympk |
A |
T |
7: 18,769,955 (GRCm39) |
I211F |
probably benign |
Het |
Tk1 |
C |
T |
11: 117,716,603 (GRCm39) |
M1I |
probably null |
Het |
Tln2 |
A |
G |
9: 67,253,743 (GRCm39) |
V776A |
probably benign |
Het |
Tnk2 |
T |
C |
16: 32,499,618 (GRCm39) |
V977A |
probably benign |
Het |
Toporsl |
A |
T |
4: 52,611,630 (GRCm39) |
S508C |
probably benign |
Het |
Trank1 |
A |
C |
9: 111,206,938 (GRCm39) |
R1690S |
probably benign |
Het |
Trio |
T |
A |
15: 27,828,437 (GRCm39) |
Q1409L |
possibly damaging |
Het |
Vit |
T |
C |
17: 78,912,927 (GRCm39) |
F287L |
probably benign |
Het |
Vmn2r109 |
G |
C |
17: 20,761,700 (GRCm39) |
D552E |
probably benign |
Het |
Zw10 |
T |
C |
9: 48,972,491 (GRCm39) |
V186A |
probably benign |
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 |
R7290: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'- CCAGTACCAGTGGACAAGAC -3'
Sequencing Primer
(F):5'- CTGTAGTGACCCGAGCATAG -3'
(R):5'- GGGGGTAAAAACTCTCAACTTCC -3'
|
Posted On |
2019-06-26 |