Incidental Mutation 'IGL03379:Tmem8b'
ID |
420627 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem8b
|
Ensembl Gene |
ENSMUSG00000078716 |
Gene Name |
transmembrane protein 8B |
Synonyms |
4930500O05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
IGL03379
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43668971-43692668 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43685561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 596
(T596A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000143339]
[ENSMUST00000167153]
|
AlphaFold |
B1AWJ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107864
AA Change: T137A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103496 Gene: ENSMUSG00000078716 AA Change: T137A
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
EGF
|
185 |
221 |
1.95e1 |
SMART |
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107865
AA Change: T137A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103497 Gene: ENSMUSG00000078716 AA Change: T137A
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
EGF
|
185 |
221 |
1.95e1 |
SMART |
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107866
AA Change: T596A
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103498 Gene: ENSMUSG00000078716 AA Change: T596A
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
low complexity region
|
45 |
71 |
N/A |
INTRINSIC |
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
low complexity region
|
115 |
137 |
N/A |
INTRINSIC |
low complexity region
|
427 |
443 |
N/A |
INTRINSIC |
EGF
|
606 |
642 |
1.95e1 |
SMART |
Pfam:DUF3522
|
652 |
836 |
1.4e-54 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141864
|
Predicted Effect |
unknown
Transcript: ENSMUST00000143339
AA Change: H136R
|
SMART Domains |
Protein: ENSMUSP00000130133 Gene: ENSMUSG00000078716 AA Change: H136R
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143774
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167153
AA Change: T137A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129760 Gene: ENSMUSG00000078716 AA Change: T137A
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
EGF
|
185 |
221 |
1.95e1 |
SMART |
Pfam:DUF3522
|
229 |
415 |
2.1e-70 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154112
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
A |
G |
10: 69,809,602 (GRCm39) |
T260A |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,885,500 (GRCm39) |
V559A |
probably benign |
Het |
Arrdc5 |
G |
A |
17: 56,601,589 (GRCm39) |
Q179* |
probably null |
Het |
Atrnl1 |
T |
C |
19: 57,630,973 (GRCm39) |
Y247H |
probably benign |
Het |
Bend5 |
T |
A |
4: 111,311,468 (GRCm39) |
S361T |
probably benign |
Het |
Cdc20b |
A |
G |
13: 113,217,736 (GRCm39) |
D385G |
probably damaging |
Het |
Cep120 |
C |
T |
18: 53,842,208 (GRCm39) |
S709N |
probably benign |
Het |
Eif2b4 |
A |
G |
5: 31,347,355 (GRCm39) |
|
probably benign |
Het |
Eif2s1 |
T |
A |
12: 78,913,354 (GRCm39) |
D18E |
probably benign |
Het |
Etl4 |
G |
A |
2: 20,666,827 (GRCm39) |
S209N |
possibly damaging |
Het |
Farp2 |
T |
A |
1: 93,535,160 (GRCm39) |
F636L |
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,789,342 (GRCm39) |
D636V |
possibly damaging |
Het |
Gm5082 |
T |
C |
13: 41,809,902 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2ird1 |
C |
T |
5: 134,411,392 (GRCm39) |
G672D |
possibly damaging |
Het |
Heatr3 |
A |
G |
8: 88,876,738 (GRCm39) |
K143R |
probably benign |
Het |
Hrc |
A |
G |
7: 44,986,679 (GRCm39) |
E610G |
probably benign |
Het |
Ica1l |
G |
A |
1: 60,036,780 (GRCm39) |
S337F |
probably benign |
Het |
Ighv1-43 |
T |
C |
12: 114,909,625 (GRCm39) |
Y99C |
probably benign |
Het |
Kcna3 |
T |
A |
3: 106,944,521 (GRCm39) |
F261L |
probably benign |
Het |
Kdm4d |
T |
C |
9: 14,375,139 (GRCm39) |
R240G |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,058,447 (GRCm39) |
I620N |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,591,104 (GRCm39) |
M55V |
probably damaging |
Het |
Oas1a |
A |
T |
5: 121,035,062 (GRCm39) |
L366Q |
possibly damaging |
Het |
Or5p68 |
T |
C |
7: 107,946,196 (GRCm39) |
|
probably benign |
Het |
Pds5b |
T |
C |
5: 150,711,796 (GRCm39) |
V918A |
probably damaging |
Het |
Plcz1 |
G |
A |
6: 139,936,490 (GRCm39) |
L580F |
possibly damaging |
Het |
Prlr |
C |
A |
15: 10,319,403 (GRCm39) |
P147T |
possibly damaging |
Het |
Ptpn18 |
A |
T |
1: 34,509,338 (GRCm39) |
|
probably null |
Het |
Ptprt |
A |
T |
2: 161,397,379 (GRCm39) |
C1109* |
probably null |
Het |
Ralgapa2 |
A |
T |
2: 146,199,907 (GRCm39) |
S1212R |
probably benign |
Het |
Scn2b |
T |
A |
9: 45,037,498 (GRCm39) |
C182S |
probably damaging |
Het |
Slc7a14 |
A |
T |
3: 31,277,664 (GRCm39) |
M647K |
probably damaging |
Het |
Sult2a6 |
G |
A |
7: 13,956,511 (GRCm39) |
T250I |
probably benign |
Het |
Syn3 |
A |
T |
10: 85,900,736 (GRCm39) |
M384K |
possibly damaging |
Het |
Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
Vat1l |
A |
T |
8: 115,009,006 (GRCm39) |
I247F |
probably damaging |
Het |
Vmn2r110 |
T |
C |
17: 20,803,906 (GRCm39) |
D223G |
probably damaging |
Het |
Wdr11 |
T |
A |
7: 129,200,847 (GRCm39) |
D99E |
probably damaging |
Het |
Zan |
C |
T |
5: 137,462,477 (GRCm39) |
V901I |
unknown |
Het |
|
Other mutations in Tmem8b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02137:Tmem8b
|
APN |
4 |
43,689,434 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02677:Tmem8b
|
APN |
4 |
43,686,092 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03090:Tmem8b
|
APN |
4 |
43,689,721 (GRCm39) |
missense |
probably damaging |
0.99 |
R0321:Tmem8b
|
UTSW |
4 |
43,674,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:Tmem8b
|
UTSW |
4 |
43,674,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0456:Tmem8b
|
UTSW |
4 |
43,685,618 (GRCm39) |
missense |
probably benign |
0.04 |
R0629:Tmem8b
|
UTSW |
4 |
43,669,896 (GRCm39) |
splice site |
probably null |
|
R0646:Tmem8b
|
UTSW |
4 |
43,690,123 (GRCm39) |
missense |
probably benign |
0.01 |
R0690:Tmem8b
|
UTSW |
4 |
43,674,562 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1484:Tmem8b
|
UTSW |
4 |
43,690,234 (GRCm39) |
missense |
probably benign |
0.01 |
R1558:Tmem8b
|
UTSW |
4 |
43,681,134 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1733:Tmem8b
|
UTSW |
4 |
43,690,228 (GRCm39) |
splice site |
probably null |
|
R1999:Tmem8b
|
UTSW |
4 |
43,681,300 (GRCm39) |
missense |
probably damaging |
0.99 |
R2414:Tmem8b
|
UTSW |
4 |
43,673,892 (GRCm39) |
splice site |
probably benign |
|
R3799:Tmem8b
|
UTSW |
4 |
43,673,892 (GRCm39) |
splice site |
probably benign |
|
R3820:Tmem8b
|
UTSW |
4 |
43,689,745 (GRCm39) |
missense |
probably damaging |
0.99 |
R3821:Tmem8b
|
UTSW |
4 |
43,689,745 (GRCm39) |
missense |
probably damaging |
0.99 |
R4581:Tmem8b
|
UTSW |
4 |
43,685,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Tmem8b
|
UTSW |
4 |
43,689,713 (GRCm39) |
missense |
probably damaging |
0.99 |
R5214:Tmem8b
|
UTSW |
4 |
43,673,992 (GRCm39) |
missense |
probably benign |
0.09 |
R5311:Tmem8b
|
UTSW |
4 |
43,673,992 (GRCm39) |
missense |
probably benign |
0.09 |
R5448:Tmem8b
|
UTSW |
4 |
43,673,992 (GRCm39) |
missense |
probably benign |
0.09 |
R5449:Tmem8b
|
UTSW |
4 |
43,673,992 (GRCm39) |
missense |
probably benign |
0.09 |
R5450:Tmem8b
|
UTSW |
4 |
43,673,992 (GRCm39) |
missense |
probably benign |
0.09 |
R6245:Tmem8b
|
UTSW |
4 |
43,690,246 (GRCm39) |
missense |
probably benign |
0.14 |
R6615:Tmem8b
|
UTSW |
4 |
43,682,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R6693:Tmem8b
|
UTSW |
4 |
43,669,837 (GRCm39) |
missense |
probably benign |
0.00 |
R6944:Tmem8b
|
UTSW |
4 |
43,674,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Tmem8b
|
UTSW |
4 |
43,690,192 (GRCm39) |
missense |
probably damaging |
0.96 |
R7136:Tmem8b
|
UTSW |
4 |
43,669,845 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7704:Tmem8b
|
UTSW |
4 |
43,689,461 (GRCm39) |
missense |
probably damaging |
0.96 |
R8048:Tmem8b
|
UTSW |
4 |
43,689,476 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8064:Tmem8b
|
UTSW |
4 |
43,690,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Tmem8b
|
UTSW |
4 |
43,681,982 (GRCm39) |
missense |
probably benign |
0.23 |
R9293:Tmem8b
|
UTSW |
4 |
43,686,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R9447:Tmem8b
|
UTSW |
4 |
43,685,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R9491:Tmem8b
|
UTSW |
4 |
43,673,938 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tmem8b
|
UTSW |
4 |
43,689,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |