Incidental Mutation 'IGL03090:Tmem8b'
| ID |
418351 |
| 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: 0.129)
|
| Stock # |
IGL03090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43668971-43692668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43689721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 333
(S333T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000143339]
[ENSMUST00000167153]
|
| AlphaFold |
B1AWJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107864
AA Change: S333T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716
AA Change: S333T
| 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 damaging
Transcript: ENSMUST00000107865
AA Change: S333T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716
AA Change: S333T
| 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 damaging
Transcript: ENSMUST00000107866
AA Change: S792T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: S792T
| 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 |
probably benign
Transcript: ENSMUST00000143339
|
| SMART Domains |
Protein: ENSMUSP00000130133
Gene: ENSMUSG00000078716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154112
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167153
AA Change: S333T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716
AA Change: S333T
| 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: ENSMUST00000158322
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
A |
G |
8: 41,247,965 (GRCm39) |
Y25C |
probably benign |
Het |
| Agap3 |
A |
C |
5: 24,706,204 (GRCm39) |
T823P |
possibly damaging |
Het |
| Arap3 |
T |
C |
18: 38,122,165 (GRCm39) |
E641G |
probably benign |
Het |
| Armc6 |
C |
T |
8: 70,684,004 (GRCm39) |
R16Q |
probably benign |
Het |
| Asb15 |
T |
A |
6: 24,567,185 (GRCm39) |
I502K |
possibly damaging |
Het |
| Atp8b3 |
T |
A |
10: 80,366,438 (GRCm39) |
N275I |
probably damaging |
Het |
| Calr |
G |
A |
8: 85,573,373 (GRCm39) |
P19S |
possibly damaging |
Het |
| Cdc6 |
T |
A |
11: 98,810,122 (GRCm39) |
L477* |
probably null |
Het |
| Clba1 |
T |
C |
12: 112,779,340 (GRCm39) |
|
probably null |
Het |
| Cnnm4 |
A |
G |
1: 36,510,952 (GRCm39) |
D60G |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,585,652 (GRCm39) |
Q1242K |
probably damaging |
Het |
| Dusp18 |
T |
A |
11: 3,847,466 (GRCm39) |
I152N |
probably damaging |
Het |
| Eef1akmt1 |
T |
C |
14: 57,795,543 (GRCm39) |
T69A |
probably damaging |
Het |
| Efhb |
T |
C |
17: 53,769,958 (GRCm39) |
Q117R |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,514,558 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 16,288,535 (GRCm39) |
W329* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,344,858 (GRCm39) |
Y1727C |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gatb |
C |
A |
3: 85,526,330 (GRCm39) |
|
probably benign |
Het |
| Gpr33 |
A |
T |
12: 52,070,809 (GRCm39) |
S77T |
probably damaging |
Het |
| Gramd1c |
A |
T |
16: 43,802,463 (GRCm39) |
D649E |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,854,221 (GRCm39) |
L3745H |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,426,977 (GRCm39) |
M87K |
probably benign |
Het |
| Krt39 |
T |
G |
11: 99,409,833 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
A |
2: 31,798,710 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
T |
G |
9: 123,285,025 (GRCm39) |
M786R |
probably damaging |
Het |
| Lmcd1 |
T |
A |
6: 112,287,460 (GRCm39) |
S49T |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,680,448 (GRCm39) |
Y2689H |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,970,677 (GRCm39) |
V188A |
probably benign |
Het |
| Mbd6 |
A |
C |
10: 127,123,013 (GRCm39) |
L49W |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,028,115 (GRCm39) |
Y100F |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,801,418 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,538,396 (GRCm39) |
D663G |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,908,254 (GRCm39) |
M1075L |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,382,165 (GRCm39) |
Y240* |
probably null |
Het |
| Pomk |
T |
A |
8: 26,473,338 (GRCm39) |
N205I |
probably damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,006,575 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,385,672 (GRCm39) |
E250G |
possibly damaging |
Het |
| Slc26a6 |
A |
G |
9: 108,737,890 (GRCm39) |
E541G |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,531,661 (GRCm39) |
E876G |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,587,643 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
A |
G |
4: 132,590,540 (GRCm39) |
V119A |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,278,753 (GRCm39) |
|
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,759,245 (GRCm39) |
R410G |
probably damaging |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,463 (GRCm39) |
I116T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,041 (GRCm39) |
L274Q |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,014,142 (GRCm39) |
F2655I |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,071 (GRCm39) |
Y737N |
probably damaging |
Het |
| Zyx |
C |
A |
6: 42,334,276 (GRCm39) |
S500* |
probably null |
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 |
|
IGL03379:Tmem8b
|
APN |
4 |
43,685,561 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
Incidental Mutation