Incidental Mutation 'IGL02137:Tmem8b'
| ID |
281378 |
| 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 # |
IGL02137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43668971-43692668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43689434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 276
(H276L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000143339]
[ENSMUST00000167153]
|
| AlphaFold |
B1AWJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107864
AA Change: H276L
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716
AA Change: H276L
| 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: H276L
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716
AA Change: H276L
| 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: H735L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: H735L
| 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 benign
Transcript: ENSMUST00000167153
AA Change: H276L
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716
AA Change: H276L
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
T |
C |
X: 80,501,262 (GRCm39) |
D116G |
probably benign |
Het |
| Acp2 |
G |
T |
2: 91,034,028 (GRCm39) |
G66V |
probably damaging |
Het |
| Adam32 |
C |
T |
8: 25,362,610 (GRCm39) |
G605D |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,467,877 (GRCm39) |
D248G |
possibly damaging |
Het |
| Adamts15 |
C |
A |
9: 30,821,956 (GRCm39) |
G494W |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,283,338 (GRCm39) |
N190K |
probably damaging |
Het |
| Bach2 |
C |
T |
4: 32,501,621 (GRCm39) |
|
probably benign |
Het |
| Bloc1s1 |
T |
C |
10: 128,758,517 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
G |
T |
4: 149,017,925 (GRCm39) |
A405S |
possibly damaging |
Het |
| Cplx4 |
T |
C |
18: 66,090,125 (GRCm39) |
D98G |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,134,349 (GRCm39) |
N1553D |
probably benign |
Het |
| Erich5 |
G |
A |
15: 34,470,900 (GRCm39) |
C43Y |
probably damaging |
Het |
| Exosc10 |
A |
C |
4: 148,645,590 (GRCm39) |
R123S |
probably damaging |
Het |
| Hoatz |
T |
C |
9: 50,997,408 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,853 (GRCm39) |
V377A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,620,700 (GRCm39) |
|
probably benign |
Het |
| Mrps17 |
G |
A |
5: 129,793,847 (GRCm39) |
V14M |
probably benign |
Het |
| Mtrr |
G |
A |
13: 68,716,920 (GRCm39) |
S431F |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,068,817 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
A |
2: 151,351,509 (GRCm39) |
I291N |
probably damaging |
Het |
| Ntsr1 |
T |
A |
2: 180,180,628 (GRCm39) |
|
probably null |
Het |
| Or4n4 |
T |
C |
14: 50,519,135 (GRCm39) |
T192A |
probably benign |
Het |
| Park7 |
T |
C |
4: 150,988,288 (GRCm39) |
I102M |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,950,039 (GRCm39) |
Q1326L |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,648,025 (GRCm39) |
D693G |
probably benign |
Het |
| Rep15 |
G |
A |
6: 146,934,845 (GRCm39) |
R228H |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,745,234 (GRCm39) |
V100A |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,640,059 (GRCm39) |
F284L |
possibly damaging |
Het |
| Sox10 |
G |
T |
15: 79,043,393 (GRCm39) |
D52E |
probably benign |
Het |
| St3gal5 |
C |
A |
6: 72,105,266 (GRCm39) |
T6N |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,183,870 (GRCm39) |
D243G |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,469,132 (GRCm39) |
Y997C |
possibly damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,609,450 (GRCm39) |
Y12C |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
| Trav18 |
T |
A |
14: 54,069,192 (GRCm39) |
M78K |
probably benign |
Het |
| Uba7 |
A |
G |
9: 107,856,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,864 (GRCm39) |
S51T |
probably damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,761 (GRCm39) |
Y99N |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
|
| Other mutations in Tmem8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation