Incidental Mutation 'R5603:Tmem120b'
| ID |
439127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem120b
|
| Ensembl Gene |
ENSMUSG00000054434 |
| Gene Name |
transmembrane protein 120B |
| Synonyms |
|
| MMRRC Submission |
043155-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R5603 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
123214329-123256276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123239705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 108
(V108D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067505]
[ENSMUST00000111619]
[ENSMUST00000160344]
[ENSMUST00000160479]
[ENSMUST00000161059]
[ENSMUST00000186469]
|
| AlphaFold |
Q3TA38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067505
AA Change: V108D
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068551
Gene: ENSMUSG00000054434
AA Change: V108D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMPIT
|
9 |
332 |
1.9e-158 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111619
AA Change: V69D
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107246
Gene: ENSMUSG00000054434
AA Change: V69D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMPIT
|
7 |
64 |
1.3e-14 |
PFAM |
|
Pfam:TMPIT
|
60 |
298 |
1.3e-127 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160344
|
| SMART Domains |
Protein: ENSMUSP00000124971
Gene: ENSMUSG00000054434
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMPIT
|
7 |
64 |
4.1e-16 |
PFAM |
|
Pfam:TMPIT
|
62 |
120 |
1e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160479
|
| SMART Domains |
Protein: ENSMUSP00000124866
Gene: ENSMUSG00000029449
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
RHO
|
22 |
195 |
1.5e-98 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161059
|
| SMART Domains |
Protein: ENSMUSP00000124358
Gene: ENSMUSG00000054434
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMPIT
|
7 |
106 |
3.2e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186469
|
| SMART Domains |
Protein: ENSMUSP00000140177
Gene: ENSMUSG00000029449
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
RHO
|
22 |
195 |
1.5e-98 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
G |
5: 144,202,787 (GRCm39) |
S509P |
probably damaging |
Het |
| Bud31 |
T |
C |
5: 145,081,769 (GRCm39) |
I52T |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,330,578 (GRCm39) |
S979N |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,221,246 (GRCm39) |
W253R |
probably damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,330 (GRCm39) |
Y118H |
probably damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,721,497 (GRCm39) |
T71A |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,689,683 (GRCm39) |
T19A |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,603 (GRCm39) |
V850D |
probably damaging |
Het |
| Cpsf2 |
C |
A |
12: 101,964,890 (GRCm39) |
Q513K |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,420,078 (GRCm39) |
V3792G |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Exoc6b |
T |
C |
6: 84,812,126 (GRCm39) |
D625G |
possibly damaging |
Het |
| Gad1 |
C |
A |
2: 70,420,173 (GRCm39) |
F352L |
probably damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,900,395 (GRCm39) |
E162G |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,747,786 (GRCm39) |
F333I |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,924,358 (GRCm39) |
F1952L |
probably benign |
Het |
| Ighv1-42 |
C |
T |
12: 114,901,132 (GRCm39) |
|
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,450,706 (GRCm39) |
T578A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mfsd14b |
T |
C |
13: 65,221,420 (GRCm39) |
K291E |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,564,331 (GRCm39) |
L379P |
probably damaging |
Het |
| Mtmr6 |
A |
T |
14: 60,522,450 (GRCm39) |
K183* |
probably null |
Het |
| Mylk |
A |
G |
16: 34,776,862 (GRCm39) |
N1345S |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,990 (GRCm39) |
M1K |
probably null |
Het |
| Ngly1 |
C |
A |
14: 16,260,762 (GRCm38) |
Q149K |
probably benign |
Het |
| Npy6r |
T |
A |
18: 44,409,652 (GRCm39) |
S358T |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,907,228 (GRCm39) |
T156A |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,743,312 (GRCm39) |
C263S |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,344,066 (GRCm39) |
C455* |
probably null |
Het |
| Ptk2b |
A |
T |
14: 66,409,514 (GRCm39) |
Y507* |
probably null |
Het |
| Rbm25 |
C |
T |
12: 83,710,990 (GRCm39) |
R368* |
probably null |
Het |
| Rnf207 |
T |
C |
4: 152,396,851 (GRCm39) |
Y396C |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,506,961 (GRCm39) |
V328E |
possibly damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,691,092 (GRCm39) |
V7A |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,828,575 (GRCm39) |
V265I |
probably benign |
Het |
| Ugt1a2 |
T |
C |
1: 88,129,148 (GRCm39) |
Y264H |
probably damaging |
Het |
|
| Other mutations in Tmem120b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Tmem120b
|
APN |
5 |
123,253,229 (GRCm39) |
splice site |
probably null |
|
|
IGL00334:Tmem120b
|
APN |
5 |
123,253,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03064:Tmem120b
|
APN |
5 |
123,240,336 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
altogether
|
UTSW |
5 |
123,254,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Tmem120b
|
UTSW |
5 |
123,252,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3276:Tmem120b
|
UTSW |
5 |
123,252,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Tmem120b
|
UTSW |
5 |
123,242,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Tmem120b
|
UTSW |
5 |
123,253,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Tmem120b
|
UTSW |
5 |
123,253,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Tmem120b
|
UTSW |
5 |
123,254,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6936:Tmem120b
|
UTSW |
5 |
123,254,287 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7114:Tmem120b
|
UTSW |
5 |
123,254,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Tmem120b
|
UTSW |
5 |
123,237,999 (GRCm39) |
nonsense |
probably null |
|
|
R8893:Tmem120b
|
UTSW |
5 |
123,254,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:Tmem120b
|
UTSW |
5 |
123,236,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Tmem120b
|
UTSW |
5 |
123,242,566 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9659:Tmem120b
|
UTSW |
5 |
123,253,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCGTCCATAGCTAACC -3'
(R):5'- GTCCTATCCACAAGCAGACTG -3'
Sequencing Primer
(F):5'- CGCTTAGCCTCCTGTTtt -3'
(R):5'- GGAGAGGTTCCCCCAAGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation