Incidental Mutation 'R6693:Tmem8b'
ID |
528162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem8b
|
Ensembl Gene |
ENSMUSG00000078716 |
Gene Name |
transmembrane protein 8B |
Synonyms |
4930500O05Rik |
MMRRC Submission |
044811-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R6693 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43668971-43692668 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43669837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 111
(E111G)
|
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: E111G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103498 Gene: ENSMUSG00000078716 AA Change: E111G
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143774
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,774,915 (GRCm39) |
V1368A |
probably benign |
Het |
Aak1 |
C |
T |
6: 86,942,497 (GRCm39) |
S680L |
unknown |
Het |
Adam25 |
A |
T |
8: 41,207,568 (GRCm39) |
N278I |
probably damaging |
Het |
Adamtsl1 |
C |
A |
4: 86,261,123 (GRCm39) |
H1111Q |
probably benign |
Het |
Adgrg7 |
T |
A |
16: 56,590,587 (GRCm39) |
N195Y |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,357,343 (GRCm39) |
N436S |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,956,445 (GRCm39) |
I1045V |
probably benign |
Het |
Chrm3 |
T |
C |
13: 9,927,458 (GRCm39) |
N526S |
probably benign |
Het |
Cpeb2 |
A |
T |
5: 43,443,255 (GRCm39) |
D982V |
probably damaging |
Het |
Fbxw27 |
T |
C |
9: 109,617,112 (GRCm39) |
I130V |
probably benign |
Het |
Glb1l |
T |
C |
1: 75,185,745 (GRCm39) |
D61G |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,386,258 (GRCm39) |
C3737Y |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,278,965 (GRCm39) |
M39L |
probably benign |
Het |
Kif17 |
C |
A |
4: 138,013,791 (GRCm39) |
Q236K |
probably benign |
Het |
Klhl25 |
T |
C |
7: 75,516,561 (GRCm39) |
V184A |
possibly damaging |
Het |
Lmf1 |
A |
T |
17: 25,864,252 (GRCm39) |
M287L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,601 (GRCm39) |
T822A |
possibly damaging |
Het |
Mmp13 |
A |
T |
9: 7,280,245 (GRCm39) |
T392S |
probably benign |
Het |
Myo6 |
T |
A |
9: 80,153,013 (GRCm39) |
N215K |
probably damaging |
Het |
Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
Or9m1 |
A |
G |
2: 87,733,652 (GRCm39) |
Y123H |
probably damaging |
Het |
Pax9 |
T |
A |
12: 56,756,516 (GRCm39) |
S285T |
probably benign |
Het |
Pcdhb15 |
A |
T |
18: 37,607,394 (GRCm39) |
T209S |
probably benign |
Het |
Pdpk1 |
A |
T |
17: 24,330,100 (GRCm39) |
|
probably null |
Het |
Rbak |
T |
C |
5: 143,159,866 (GRCm39) |
K396E |
probably damaging |
Het |
Rps6ka5 |
A |
G |
12: 100,540,088 (GRCm39) |
V545A |
probably benign |
Het |
Scg2 |
G |
T |
1: 79,413,737 (GRCm39) |
Q329K |
probably benign |
Het |
Shroom3 |
G |
A |
5: 93,088,617 (GRCm39) |
A456T |
possibly damaging |
Het |
Slc12a7 |
G |
T |
13: 73,945,656 (GRCm39) |
A489S |
probably benign |
Het |
Slc16a4 |
T |
C |
3: 107,210,380 (GRCm39) |
I350T |
probably damaging |
Het |
Slc25a45 |
T |
C |
19: 5,930,162 (GRCm39) |
V44A |
possibly damaging |
Het |
Sucla2 |
T |
A |
14: 73,806,107 (GRCm39) |
L102* |
probably null |
Het |
Tgif1 |
T |
A |
17: 71,157,885 (GRCm39) |
|
probably benign |
Het |
Zfp971 |
G |
T |
2: 177,675,224 (GRCm39) |
K274N |
probably benign |
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 |
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'- AATTTCAGCCTTGGCCTCCG -3'
(R):5'- AAGCTATCCCTCCCTGGAAC -3'
Sequencing Primer
(F):5'- TGTCCCAGCGAATGTCCAG -3'
(R):5'- TGGAACCCCATCCGGTCTC -3'
|
Posted On |
2018-07-24 |