Incidental Mutation 'R8064:Tmem8b'
| ID |
619888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem8b
|
| Ensembl Gene |
ENSMUSG00000078716 |
| Gene Name |
transmembrane protein 8B |
| Synonyms |
4930500O05Rik |
| MMRRC Submission |
067500-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R8064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43668971-43692668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43690139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 399
(F399S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055545]
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000143339]
[ENSMUST00000167153]
|
| AlphaFold |
B1AWJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055545
|
| SMART Domains |
Protein: ENSMUSP00000060748
Gene: ENSMUSG00000050215
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
9.6e-51 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
3.4e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107864
AA Change: F399S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716
AA Change: F399S
| 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: F399S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716
AA Change: F399S
| 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: F858S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: F858S
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000167153
AA Change: F399S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716
AA Change: F399S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,171,566 (GRCm39) |
V755D |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,459,637 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
T |
C |
2: 25,166,418 (GRCm39) |
V395A |
probably benign |
Het |
| Apol11b |
A |
G |
15: 77,519,417 (GRCm39) |
V221A |
not run |
Het |
| Arhgef28 |
T |
A |
13: 98,115,002 (GRCm39) |
Y616F |
probably benign |
Het |
| Brdt |
C |
A |
5: 107,525,862 (GRCm39) |
S905* |
probably null |
Het |
| Ccdc54 |
T |
A |
16: 50,410,327 (GRCm39) |
H313L |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,071,115 (GRCm39) |
L530P |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,594,407 (GRCm39) |
N219K |
probably damaging |
Het |
| Cyp2j5 |
A |
G |
4: 96,546,948 (GRCm39) |
S189P |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,352,155 (GRCm39) |
C86S |
probably benign |
Het |
| Dgkg |
TCTCCT |
TCT |
16: 22,399,344 (GRCm39) |
|
probably null |
Het |
| F11 |
C |
T |
8: 45,698,810 (GRCm39) |
G445S |
probably benign |
Het |
| Fer |
T |
A |
17: 64,214,418 (GRCm39) |
I117N |
probably benign |
Het |
| Gpat3 |
A |
T |
5: 101,039,522 (GRCm39) |
I290F |
probably benign |
Het |
| H2-M10.2 |
C |
T |
17: 36,595,442 (GRCm39) |
V283M |
probably damaging |
Het |
| Hpse |
G |
A |
5: 100,836,766 (GRCm39) |
P408S |
probably benign |
Het |
| Hyou1 |
T |
A |
9: 44,296,882 (GRCm39) |
N515K |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,205,338 (GRCm39) |
L209P |
probably damaging |
Het |
| Igkv16-104 |
A |
T |
6: 68,402,875 (GRCm39) |
Y56F |
possibly damaging |
Het |
| Ins2 |
A |
G |
7: 142,232,553 (GRCm39) |
L77P |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,692,426 (GRCm39) |
M1L |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,946,460 (GRCm39) |
|
probably null |
Het |
| Lysmd4 |
T |
C |
7: 66,873,398 (GRCm39) |
F11S |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,353,167 (GRCm39) |
D3625V |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 112,038,700 (GRCm39) |
E459V |
probably benign |
Het |
| Nsd3 |
A |
T |
8: 26,190,698 (GRCm39) |
K210* |
probably null |
Het |
| Or10ag57 |
C |
T |
2: 87,218,853 (GRCm39) |
T268I |
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,386 (GRCm39) |
F65S |
probably damaging |
Het |
| Or52n4 |
T |
A |
7: 104,294,561 (GRCm39) |
Q6L |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,692,225 (GRCm39) |
N153S |
probably damaging |
Het |
| Rac3 |
T |
A |
11: 120,614,401 (GRCm39) |
V182E |
probably benign |
Het |
| Ripk3 |
T |
G |
14: 56,025,383 (GRCm39) |
E60D |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,429,624 (GRCm39) |
I561N |
possibly damaging |
Het |
| Smad7 |
A |
G |
18: 75,527,153 (GRCm39) |
Y333C |
probably damaging |
Het |
| Snhg11 |
T |
G |
2: 158,218,121 (GRCm39) |
M1R |
probably null |
Het |
| Sp100 |
C |
T |
1: 85,608,860 (GRCm39) |
R330* |
probably null |
Het |
| Spen |
T |
C |
4: 141,203,011 (GRCm39) |
K1872R |
possibly damaging |
Het |
| Spon1 |
T |
A |
7: 113,635,856 (GRCm39) |
I690N |
probably damaging |
Het |
| Taok1 |
G |
A |
11: 77,440,130 (GRCm39) |
R626* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,306,251 (GRCm39) |
G59D |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,181,144 (GRCm39) |
Q389* |
probably null |
Het |
| Vmn1r33 |
G |
T |
6: 66,588,911 (GRCm39) |
S214R |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
| Vps35l |
T |
C |
7: 118,353,147 (GRCm39) |
I238T |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,749,620 (GRCm39) |
T259I |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACCTGCTGTCCACTGTG -3'
(R):5'- AGATGCTGCTGACAGTGGTC -3'
Sequencing Primer
(F):5'- AATTTTTGACAGGTGCCACC -3'
(R):5'- TGACAGTGGTCCCTCCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation