Incidental Mutation 'R2419:Tmem94'
| ID |
249160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem94
|
| Ensembl Gene |
ENSMUSG00000020747 |
| Gene Name |
transmembrane protein 94 |
| Synonyms |
2310067B10Rik |
| MMRRC Submission |
040381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R2419 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115656245-115689859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115687641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1167
(K1167E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041684]
[ENSMUST00000093912]
[ENSMUST00000103033]
[ENSMUST00000125918]
|
| AlphaFold |
Q7TSH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041684
|
| SMART Domains |
Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
2 |
32 |
1.27e3 |
SMART |
|
ANK
|
48 |
77 |
3.01e-4 |
SMART |
|
ANK
|
81 |
110 |
3.41e-3 |
SMART |
|
ANK
|
114 |
143 |
1.4e-4 |
SMART |
|
ANK
|
147 |
176 |
3.26e0 |
SMART |
|
ANK
|
188 |
217 |
3.33e-6 |
SMART |
|
ANK
|
220 |
249 |
4.82e-3 |
SMART |
|
SH3
|
284 |
346 |
1.13e-6 |
SMART |
|
SAM
|
485 |
551 |
8.53e-12 |
SMART |
|
SAM
|
554 |
621 |
1.41e-12 |
SMART |
|
low complexity region
|
762 |
774 |
N/A |
INTRINSIC |
|
Pfam:Caskin-Pro-rich
|
793 |
883 |
1.4e-32 |
PFAM |
|
low complexity region
|
904 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1132 |
N/A |
INTRINSIC |
|
Pfam:Caskin-tail
|
1144 |
1201 |
4.5e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093912
AA Change: K1167E
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000091440
Gene: ENSMUSG00000020747
AA Change: K1167E
| 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 |
probably damaging
Transcript: ENSMUST00000103033
AA Change: K1167E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099322
Gene: ENSMUSG00000020747
AA Change: K1167E
| 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 |
noncoding transcript
Transcript: ENSMUST00000125658
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000175989
|
| Meta Mutation Damage Score |
0.1398 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,328,001 (GRCm39) |
A768T |
probably benign |
Het |
| Acyp2 |
T |
C |
11: 30,582,316 (GRCm39) |
Y33C |
probably benign |
Het |
| Ampd3 |
A |
G |
7: 110,367,576 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,122,997 (GRCm39) |
D501G |
probably damaging |
Het |
| Arl4d |
A |
T |
11: 101,557,714 (GRCm39) |
Q80L |
probably damaging |
Het |
| Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
| Ccdc38 |
T |
A |
10: 93,384,837 (GRCm39) |
V35D |
probably benign |
Het |
| Cd6 |
G |
A |
19: 10,770,216 (GRCm39) |
P492S |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 104,902,740 (GRCm39) |
S477N |
possibly damaging |
Het |
| Cnmd |
G |
A |
14: 79,875,488 (GRCm39) |
P311S |
probably damaging |
Het |
| Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
| Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
| Dusp18 |
T |
C |
11: 3,847,018 (GRCm39) |
S3P |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,910,620 (GRCm39) |
|
probably benign |
Het |
| Foxb2 |
G |
C |
19: 16,850,325 (GRCm39) |
A227G |
probably damaging |
Het |
| Hey1 |
A |
G |
3: 8,731,003 (GRCm39) |
|
probably null |
Het |
| Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
| Kcna2 |
G |
A |
3: 107,011,469 (GRCm39) |
G17R |
probably benign |
Het |
| Kif7 |
C |
A |
7: 79,348,441 (GRCm39) |
R1300L |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
| Leng9 |
A |
G |
7: 4,151,626 (GRCm39) |
V350A |
probably benign |
Het |
| Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
| Lrat |
A |
G |
3: 82,810,992 (GRCm39) |
S10P |
probably damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,681,729 (GRCm39) |
|
probably benign |
Het |
| Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,535,829 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,936,884 (GRCm39) |
V342A |
probably benign |
Het |
| Nup210 |
G |
A |
6: 90,994,538 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
T |
A |
10: 78,448,221 (GRCm39) |
I85F |
probably benign |
Het |
| Or1j12 |
T |
A |
2: 36,343,338 (GRCm39) |
V247E |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
| Phc3 |
T |
C |
3: 31,005,027 (GRCm39) |
M189V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,104,020 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
G |
T |
15: 4,604,245 (GRCm39) |
K284N |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,272 (GRCm39) |
V1058A |
possibly damaging |
Het |
| Rbbp5 |
T |
C |
1: 132,421,564 (GRCm39) |
I88T |
possibly damaging |
Het |
| Rfpl4b |
T |
C |
10: 38,697,368 (GRCm39) |
R78G |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
| Sdad1 |
T |
C |
5: 92,453,677 (GRCm39) |
H37R |
possibly damaging |
Het |
| Setd2 |
T |
A |
9: 110,378,065 (GRCm39) |
F627I |
possibly damaging |
Het |
| Ski |
A |
G |
4: 155,245,350 (GRCm39) |
S293P |
probably benign |
Het |
| Slc27a1 |
A |
G |
8: 72,032,560 (GRCm39) |
E191G |
possibly damaging |
Het |
| Snx18 |
T |
C |
13: 113,753,755 (GRCm39) |
M393V |
possibly damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,974,146 (GRCm39) |
T1160A |
possibly damaging |
Het |
| Tacc1 |
A |
G |
8: 25,672,829 (GRCm39) |
V42A |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,415,983 (GRCm39) |
F897L |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
| Tmem62 |
G |
A |
2: 120,837,586 (GRCm39) |
G501E |
probably damaging |
Het |
| Trap1 |
A |
G |
16: 3,886,194 (GRCm39) |
S88P |
probably benign |
Het |
| Ugt2b38 |
T |
C |
5: 87,571,591 (GRCm39) |
D147G |
probably damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,824 (GRCm39) |
N227I |
probably benign |
Het |
| Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
| Vmn1r204 |
T |
G |
13: 22,740,420 (GRCm39) |
L17R |
probably damaging |
Het |
| Zcchc14 |
T |
A |
8: 122,330,675 (GRCm39) |
Q896L |
probably damaging |
Het |
| Zfp619 |
A |
G |
7: 39,185,307 (GRCm39) |
K446E |
possibly damaging |
Het |
| Zpr1 |
T |
C |
9: 46,187,490 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GCTTTATCTCACTGCCAAGAGTC -3'
(R):5'- GCACCTGCTCAGCTTTTCTAAATG -3'
Sequencing Primer
(F):5'- TCACTGCCAAGAGTCCCTGTAG -3'
(R):5'- ATGTTTAGCAAGCCCTCAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation