Incidental Mutation 'R1593:Tmem8'
| ID |
175644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem8
|
| Ensembl Gene |
ENSMUSG00000024180 |
| Gene Name |
transmembrane protein 8 (five membrane-spanning domains) |
| Synonyms |
M83 |
| MMRRC Submission |
039630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R1593 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26113316-26123254 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26118407 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 399
(I399N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000128597]
|
| AlphaFold |
Q9ESN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025010
AA Change: I399N
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: I399N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
EGF
|
495 |
531 |
1.99e1 |
SMART |
|
Pfam:DUF3522
|
541 |
725 |
1e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128597
|
| SMART Domains |
Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
3 |
39 |
1.99e1 |
SMART |
|
Pfam:DUF3522
|
47 |
143 |
2e-36 |
PFAM |
|
Pfam:DUF3522
|
134 |
194 |
2.6e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
T |
11: 100,481,755 (GRCm38) |
I902N |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,323,308 (GRCm38) |
D88G |
probably damaging |
Het |
| Adam1a |
A |
C |
5: 121,519,643 (GRCm38) |
I529S |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,501,927 (GRCm38) |
V838A |
unknown |
Het |
| Arrdc2 |
T |
C |
8: 70,837,120 (GRCm38) |
Y280C |
probably damaging |
Het |
| Atg10 |
T |
C |
13: 91,154,261 (GRCm38) |
T53A |
probably benign |
Het |
| Ccdc136 |
T |
C |
6: 29,415,584 (GRCm38) |
S699P |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,636,326 (GRCm38) |
V462L |
possibly damaging |
Het |
| Clcn6 |
C |
T |
4: 148,014,594 (GRCm38) |
A431T |
probably benign |
Het |
| Cntn6 |
T |
G |
6: 104,832,580 (GRCm38) |
H525Q |
possibly damaging |
Het |
| Ctr9 |
T |
C |
7: 111,042,853 (GRCm38) |
F296S |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,036,172 (GRCm38) |
|
probably null |
Het |
| Ehd1 |
A |
G |
19: 6,298,300 (GRCm38) |
D436G |
|
Het |
| Epha6 |
A |
T |
16: 60,424,904 (GRCm38) |
F311I |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 188,066,385 (GRCm38) |
T150S |
possibly damaging |
Het |
| Exoc2 |
C |
A |
13: 30,856,761 (GRCm38) |
R758L |
possibly damaging |
Het |
| Exosc7 |
G |
C |
9: 123,131,993 (GRCm38) |
V242L |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,784,807 (GRCm38) |
D190G |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 94,045,032 (GRCm38) |
S583P |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,473,188 (GRCm38) |
Y60C |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,113,750 (GRCm38) |
I815N |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,650,914 (GRCm38) |
L257Q |
probably damaging |
Het |
| Hectd3 |
C |
A |
4: 116,997,020 (GRCm38) |
T289K |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,980,991 (GRCm38) |
V207A |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,330,796 (GRCm38) |
E443G |
probably damaging |
Het |
| Meis2 |
T |
A |
2: 116,000,264 (GRCm38) |
D256V |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,686 (GRCm38) |
N1520S |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,478,854 (GRCm38) |
R719G |
probably null |
Het |
| Olfr800 |
A |
T |
10: 129,660,225 (GRCm38) |
R140* |
probably null |
Het |
| Pabpc6 |
A |
T |
17: 9,667,813 (GRCm38) |
M603K |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 125,759,273 (GRCm38) |
R1862L |
probably benign |
Het |
| Pon2 |
T |
C |
6: 5,273,003 (GRCm38) |
D122G |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,749,081 (GRCm38) |
W378R |
unknown |
Het |
| Ralgapa1 |
T |
A |
12: 55,770,703 (GRCm38) |
E389D |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,546,397 (GRCm38) |
|
probably null |
Het |
| Rarg |
A |
G |
15: 102,239,941 (GRCm38) |
F233L |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,403,460 (GRCm38) |
F90L |
possibly damaging |
Het |
| Rrp12 |
T |
A |
19: 41,863,241 (GRCm38) |
H1285L |
probably benign |
Het |
| Slc16a13 |
C |
A |
11: 70,219,082 (GRCm38) |
A198S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 94,097,233 (GRCm38) |
D441G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,116,052 (GRCm38) |
F1099S |
probably damaging |
Het |
| Tex19.1 |
T |
A |
11: 121,147,253 (GRCm38) |
W146R |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,511,163 (GRCm38) |
D197G |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 43,975,433 (GRCm38) |
H644R |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,943,076 (GRCm38) |
V352A |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,362,701 (GRCm38) |
K233E |
probably damaging |
Het |
| Vsir |
A |
G |
10: 60,357,958 (GRCm38) |
T67A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,396,941 (GRCm38) |
N487S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,609,423 (GRCm38) |
N99S |
probably damaging |
Het |
| Zfp583 |
C |
T |
7: 6,317,009 (GRCm38) |
G335S |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,561,026 (GRCm38) |
V98E |
possibly damaging |
Het |
|
| Other mutations in Tmem8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Tmem8
|
APN |
17 |
26,117,519 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01014:Tmem8
|
APN |
17 |
26,117,009 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02167:Tmem8
|
APN |
17 |
26,119,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02375:Tmem8
|
APN |
17 |
26,119,499 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02892:Tmem8
|
APN |
17 |
26,119,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02931:Tmem8
|
APN |
17 |
26,117,949 (GRCm38) |
missense |
probably benign |
|
|
IGL03005:Tmem8
|
APN |
17 |
26,118,937 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03124:Tmem8
|
APN |
17 |
26,116,834 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03046:Tmem8
|
UTSW |
17 |
26,119,440 (GRCm38) |
splice site |
probably null |
|
|
R0551:Tmem8
|
UTSW |
17 |
26,120,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0555:Tmem8
|
UTSW |
17 |
26,117,114 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1502:Tmem8
|
UTSW |
17 |
26,120,316 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1688:Tmem8
|
UTSW |
17 |
26,118,908 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1829:Tmem8
|
UTSW |
17 |
26,122,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2071:Tmem8
|
UTSW |
17 |
26,122,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2117:Tmem8
|
UTSW |
17 |
26,117,884 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R3609:Tmem8
|
UTSW |
17 |
26,118,886 (GRCm38) |
missense |
probably benign |
0.23 |
|
R3610:Tmem8
|
UTSW |
17 |
26,118,886 (GRCm38) |
missense |
probably benign |
0.23 |
|
R4564:Tmem8
|
UTSW |
17 |
26,117,863 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4749:Tmem8
|
UTSW |
17 |
26,116,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4777:Tmem8
|
UTSW |
17 |
26,121,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4913:Tmem8
|
UTSW |
17 |
26,120,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5098:Tmem8
|
UTSW |
17 |
26,118,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5126:Tmem8
|
UTSW |
17 |
26,121,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5640:Tmem8
|
UTSW |
17 |
26,118,872 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5722:Tmem8
|
UTSW |
17 |
26,120,562 (GRCm38) |
frame shift |
probably null |
|
|
R5723:Tmem8
|
UTSW |
17 |
26,120,562 (GRCm38) |
frame shift |
probably null |
|
|
R5739:Tmem8
|
UTSW |
17 |
26,120,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5927:Tmem8
|
UTSW |
17 |
26,121,998 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6587:Tmem8
|
UTSW |
17 |
26,121,564 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6723:Tmem8
|
UTSW |
17 |
26,120,636 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7588:Tmem8
|
UTSW |
17 |
26,122,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7621:Tmem8
|
UTSW |
17 |
26,117,891 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7653:Tmem8
|
UTSW |
17 |
26,120,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7771:Tmem8
|
UTSW |
17 |
26,122,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8037:Tmem8
|
UTSW |
17 |
26,117,535 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8493:Tmem8
|
UTSW |
17 |
26,121,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8956:Tmem8
|
UTSW |
17 |
26,120,400 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9048:Tmem8
|
UTSW |
17 |
26,121,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9574:Tmem8
|
UTSW |
17 |
26,118,887 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATTTGAGAGCCTGGCTGAAC -3'
(R):5'- AACTTCTACCAGGGACAGGGCTTC -3'
Sequencing Primer
(F):5'- ATGGAGTGTGACCATCCATC -3'
(R):5'- GAAGTCTTTTATCTTGGAGGAATCCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation