Incidental Mutation 'R8545:Tmem109'
| ID |
659608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem109
|
| Ensembl Gene |
ENSMUSG00000034659 |
| Gene Name |
transmembrane protein 109 |
| Synonyms |
MG23, 1110006I15Rik, mitsugumin23 |
| MMRRC Submission |
068510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10848021-10859107 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 10851734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 37
(R37*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000038128]
[ENSMUST00000120524]
[ENSMUST00000128835]
[ENSMUST00000133303]
[ENSMUST00000144681]
[ENSMUST00000147699]
|
| AlphaFold |
Q3UBX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025645
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_N
|
44 |
167 |
1.6e-35 |
PFAM |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
Pfam:TMEM132
|
403 |
745 |
4.1e-108 |
PFAM |
|
low complexity region
|
759 |
776 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_C
|
809 |
897 |
1.5e-31 |
PFAM |
|
low complexity region
|
906 |
923 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
960 |
976 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000038128
AA Change: R37*
|
| SMART Domains |
Protein: ENSMUSP00000039529
Gene: ENSMUSG00000034659
AA Change: R37*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:BRI3BP
|
57 |
231 |
9.9e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120524
|
| SMART Domains |
Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128835
AA Change: R37*
|
| SMART Domains |
Protein: ENSMUSP00000122130
Gene: ENSMUSG00000034659
AA Change: R37*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133303
AA Change: R37*
|
| SMART Domains |
Protein: ENSMUSP00000120261
Gene: ENSMUSG00000034659
AA Change: R37*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:BRI3BP
|
54 |
213 |
8.1e-65 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144681
AA Change: R51*
|
| SMART Domains |
Protein: ENSMUSP00000116750
Gene: ENSMUSG00000034659
AA Change: R51*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147699
AA Change: R37*
|
| SMART Domains |
Protein: ENSMUSP00000120662
Gene: ENSMUSG00000034659
AA Change: R37*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:BRI3BP
|
54 |
115 |
1.7e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, overtly normal and exhibit normal thymocyte maturation; however, mutant thymocytes are less sensitive to DNA damage caused by gamma-irradiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,236,794 (GRCm39) |
Y1779C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,450,084 (GRCm39) |
N2293D |
possibly damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,234,998 (GRCm39) |
L488P |
probably damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,423,408 (GRCm39) |
Q886L |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,978,868 (GRCm39) |
V45G |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,931 (GRCm39) |
T812A |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,813,352 (GRCm39) |
S246G |
probably benign |
Het |
| Cby3 |
T |
C |
11: 50,250,243 (GRCm39) |
S150P |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,723,939 (GRCm39) |
V283A |
probably benign |
Het |
| Cox15 |
A |
T |
19: 43,728,421 (GRCm39) |
V284E |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,227 (GRCm39) |
H260L |
probably benign |
Het |
| Dph6 |
G |
A |
2: 114,478,248 (GRCm39) |
A31V |
probably damaging |
Het |
| Dsc2 |
G |
A |
18: 20,167,722 (GRCm39) |
Q123* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,731,097 (GRCm39) |
F810S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,467,996 (GRCm39) |
|
probably benign |
Het |
| Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,257 (GRCm39) |
L55* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,445,707 (GRCm39) |
T396A |
probably benign |
Het |
| Il17rd |
T |
G |
14: 26,813,886 (GRCm39) |
F55C |
probably damaging |
Het |
| Mad1l1 |
A |
C |
5: 140,286,249 (GRCm39) |
M250R |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,581 (GRCm39) |
K6* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,306,130 (GRCm39) |
N273S |
unknown |
Het |
| Myh1 |
T |
A |
11: 67,093,027 (GRCm39) |
Y78N |
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,706,601 (GRCm39) |
H233L |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,602,856 (GRCm39) |
A373T |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,863,391 (GRCm39) |
M778K |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,489,726 (GRCm39) |
D644V |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,570 (GRCm39) |
I142N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,704,239 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,139,291 (GRCm39) |
M87V |
possibly damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,652,779 (GRCm39) |
Y114C |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,648,718 (GRCm39) |
W1905R |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,800,258 (GRCm39) |
Y1802C |
probably benign |
Het |
| Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
| Zcchc4 |
G |
A |
5: 52,976,741 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,484,662 (GRCm39) |
S1772P |
probably benign |
Het |
| Zfp820 |
A |
G |
17: 22,038,438 (GRCm39) |
C297R |
probably damaging |
Het |
|
| Other mutations in Tmem109 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03003:Tmem109
|
APN |
19 |
10,851,695 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0882:Tmem109
|
UTSW |
19 |
10,849,205 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1221:Tmem109
|
UTSW |
19 |
10,851,733 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1571:Tmem109
|
UTSW |
19 |
10,849,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Tmem109
|
UTSW |
19 |
10,849,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6367:Tmem109
|
UTSW |
19 |
10,851,727 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6708:Tmem109
|
UTSW |
19 |
10,849,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Tmem109
|
UTSW |
19 |
10,849,124 (GRCm39) |
makesense |
probably null |
|
|
R7867:Tmem109
|
UTSW |
19 |
10,855,466 (GRCm39) |
missense |
unknown |
|
|
R8796:Tmem109
|
UTSW |
19 |
10,849,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Tmem109
|
UTSW |
19 |
10,849,235 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGGCAGTAGCAACTAGGAC -3'
(R):5'- ATGTCCATTGGTTCTGGCTC -3'
Sequencing Primer
(F):5'- AGGTGGCATTGACAATGTCTCTCC -3'
(R):5'- GGCTCACTGCTTACCCTATGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation