Incidental Mutation 'R9491:Tmem8b'
| ID |
716920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem8b
|
| Ensembl Gene |
ENSMUSG00000078716 |
| Gene Name |
transmembrane protein 8B |
| Synonyms |
4930500O05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R9491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43668971-43692668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43673938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 190
(R190C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056474]
[ENSMUST00000107864]
[ENSMUST00000107865]
[ENSMUST00000107866]
[ENSMUST00000143339]
[ENSMUST00000167153]
|
| 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 damaging
Transcript: ENSMUST00000107866
AA Change: R190C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716
AA Change: R190C
| 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 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
A |
9: 106,312,994 (GRCm39) |
T142I |
probably damaging |
Het |
| Adcy9 |
T |
C |
16: 4,236,052 (GRCm39) |
E453G |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,838,339 (GRCm39) |
|
probably null |
Het |
| Asmt |
G |
A |
X: 169,108,405 (GRCm39) |
G103D |
possibly damaging |
Het |
| Cap2 |
C |
T |
13: 46,791,366 (GRCm39) |
P290S |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,800,505 (GRCm39) |
|
probably null |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Clstn1 |
T |
C |
4: 149,731,929 (GRCm39) |
S950P |
probably damaging |
Het |
| Cluap1 |
G |
A |
16: 3,758,732 (GRCm39) |
R398Q |
probably benign |
Het |
| Cmbl |
G |
T |
15: 31,582,119 (GRCm39) |
V39L |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,877,369 (GRCm39) |
D536G |
probably benign |
Het |
| Ddx3y |
T |
A |
Y: 1,279,465 (GRCm39) |
D133V |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,156,907 (GRCm39) |
S525T |
probably benign |
Het |
| Eif2s2 |
T |
C |
2: 154,734,630 (GRCm39) |
|
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gadd45a |
A |
T |
6: 67,012,730 (GRCm39) |
D137E |
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,415,602 (GRCm39) |
D120G |
probably damaging |
Het |
| Gpr156 |
A |
T |
16: 37,825,704 (GRCm39) |
R640S |
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,746,995 (GRCm39) |
M414K |
|
Het |
| Gtse1 |
C |
T |
15: 85,755,734 (GRCm39) |
P466L |
probably damaging |
Het |
| H6pd |
T |
A |
4: 150,080,366 (GRCm39) |
N160Y |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,452,981 (GRCm39) |
L496R |
probably damaging |
Het |
| Hnrnpk |
G |
T |
13: 58,541,050 (GRCm39) |
Q441K |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,854,141 (GRCm39) |
K637E |
unknown |
Het |
| Irgc |
C |
T |
7: 24,132,349 (GRCm39) |
R156H |
probably benign |
Het |
| Kazn |
C |
T |
4: 141,845,436 (GRCm39) |
A383T |
|
Het |
| Lmln |
A |
G |
16: 32,890,358 (GRCm39) |
E169G |
possibly damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,852 (GRCm39) |
C326* |
probably null |
Het |
| Ncoa1 |
T |
A |
12: 4,340,912 (GRCm39) |
D840V |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,300,875 (GRCm39) |
D81G |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,606 (GRCm39) |
T140A |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,278,971 (GRCm39) |
V33A |
possibly damaging |
Het |
| Parp4 |
G |
A |
14: 56,832,828 (GRCm39) |
E384K |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,895 (GRCm39) |
L430H |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,056 (GRCm39) |
Y861C |
probably damaging |
Het |
| Pheta1 |
G |
A |
5: 121,991,051 (GRCm39) |
A138T |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,772,359 (GRCm39) |
Y337F |
probably benign |
Het |
| Prcc |
A |
G |
3: 87,774,671 (GRCm39) |
V377A |
probably benign |
Het |
| Prrg2 |
T |
A |
7: 44,706,218 (GRCm39) |
Y133F |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,733,813 (GRCm39) |
V901A |
probably damaging |
Het |
| Rgl1 |
A |
G |
1: 152,424,869 (GRCm39) |
L335P |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,037,835 (GRCm39) |
M1440K |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,667,020 (GRCm39) |
|
probably null |
Het |
| Tbpl2 |
T |
C |
2: 23,986,532 (GRCm39) |
I6V |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,188,689 (GRCm39) |
H516L |
|
Het |
| Tpmt |
A |
T |
13: 47,180,752 (GRCm39) |
S196T |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,472 (GRCm39) |
N478S |
unknown |
Het |
| Vstm5 |
T |
G |
9: 15,168,586 (GRCm39) |
I50S |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,616 (GRCm39) |
C285* |
probably null |
Het |
| Zdhhc23 |
A |
C |
16: 43,794,062 (GRCm39) |
V204G |
probably benign |
Het |
| Zfp653 |
T |
A |
9: 21,969,622 (GRCm39) |
K215* |
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 |
|
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 |
|
Z1176:Tmem8b
|
UTSW |
4 |
43,689,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACGAGGCTTTTGTGAGG -3'
(R):5'- AACTCGATTTGGAAAATGACTAGGG -3'
Sequencing Primer
(F):5'- CTTTTGTGAGGAATAAGCCAGATGAC -3'
(R):5'- ACTAGGGTTAGAAATTGGGGTTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation