Incidental Mutation 'R5449:Tmem8b'
| ID |
429211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem8b
|
| Ensembl Gene |
ENSMUSG00000078716 |
| Gene Name |
transmembrane protein 8B |
| Synonyms |
4930500O05Rik |
| MMRRC Submission |
043014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R5449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43668971-43692668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43673992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 208
(V208I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056474]
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000167153]
[ENSMUST00000143339]
|
| AlphaFold |
B1AWJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056474
|
| SMART Domains |
Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
105 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
119 |
164 |
1.12e-19 |
PROSPERO |
|
internal_repeat_1
|
165 |
210 |
1.12e-19 |
PROSPERO |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
Pfam:DUF4475
|
312 |
482 |
1.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107864
|
| SMART Domains |
Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716
| 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: V208I
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: V208I
| 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: ENSMUST00000134487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167153
|
| SMART Domains |
Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716
| 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: ENSMUST00000143339
|
| SMART Domains |
Protein: ENSMUSP00000130133
Gene: ENSMUSG00000078716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,123,579 (GRCm39) |
I98F |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,537 (GRCm39) |
K197E |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,251,737 (GRCm39) |
|
probably null |
Het |
| Atad5 |
A |
G |
11: 80,014,934 (GRCm39) |
I1337V |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,662,891 (GRCm39) |
T550A |
probably damaging |
Het |
| Cdk5rap2 |
A |
C |
4: 70,194,888 (GRCm39) |
L952V |
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,069,762 (GRCm39) |
|
probably null |
Het |
| Cfl1 |
A |
G |
19: 5,543,521 (GRCm39) |
*167W |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,693,798 (GRCm39) |
D734G |
unknown |
Het |
| Cry1 |
G |
A |
10: 84,968,999 (GRCm39) |
L581F |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,824,916 (GRCm39) |
D406G |
probably benign |
Het |
| Faah |
T |
C |
4: 115,856,692 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,926,731 (GRCm39) |
F607S |
probably damaging |
Het |
| Fga |
CAAAG |
CAAAGAAAG |
3: 82,938,169 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
G |
A |
11: 102,086,923 (GRCm39) |
Q46* |
probably null |
Het |
| Hltf |
A |
G |
3: 20,123,247 (GRCm39) |
T212A |
possibly damaging |
Het |
| Ilvbl |
G |
A |
10: 78,412,862 (GRCm39) |
|
probably null |
Het |
| Ldhc |
T |
C |
7: 46,519,082 (GRCm39) |
S102P |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,167,127 (GRCm39) |
V1529A |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,254 (GRCm39) |
I202V |
probably benign |
Het |
| Nscme3l |
G |
A |
19: 5,553,292 (GRCm39) |
T163M |
probably benign |
Het |
| Pdc |
A |
C |
1: 150,209,190 (GRCm39) |
L224F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,956,344 (GRCm39) |
V764A |
possibly damaging |
Het |
| Plxna1 |
T |
C |
6: 89,300,590 (GRCm39) |
D1578G |
probably damaging |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Ptrh1 |
A |
G |
2: 32,666,358 (GRCm39) |
S37G |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,116,570 (GRCm39) |
D411G |
probably benign |
Het |
| Riok3 |
A |
T |
18: 12,288,303 (GRCm39) |
E493D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,902 (GRCm39) |
M570T |
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,488,154 (GRCm39) |
D187G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,151,346 (GRCm39) |
I819F |
probably damaging |
Het |
| Slc7a5 |
C |
A |
8: 122,613,087 (GRCm39) |
W330C |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 86,187,434 (GRCm39) |
F230Y |
probably damaging |
Het |
| Tro |
T |
C |
X: 149,428,966 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,793,981 (GRCm39) |
M68L |
probably benign |
Het |
| Vmn1r120 |
A |
C |
7: 20,787,074 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,343 (GRCm39) |
V64A |
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,001,101 (GRCm39) |
S58P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGCTGTTGACCTGGTCC -3'
(R):5'- TTCAACCTGGATAAGGGTCAAGTTC -3'
Sequencing Primer
(F):5'- CCTGTTGGTGAGAAGGTGACC -3'
(R):5'- GTCAAGAGGCATGTTTAGACCCC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation