Incidental Mutation 'R6577:Tmem120b'
| ID |
523537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem120b
|
| Ensembl Gene |
ENSMUSG00000054434 |
| Gene Name |
transmembrane protein 120B |
| Synonyms |
|
| MMRRC Submission |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123214329-123256276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 123254710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 304
(F304V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031401]
[ENSMUST00000067505]
[ENSMUST00000111619]
[ENSMUST00000160344]
[ENSMUST00000160479]
[ENSMUST00000161059]
[ENSMUST00000186469]
|
| AlphaFold |
Q3TA38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031401
|
| SMART Domains |
Protein: ENSMUSP00000031401
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 |
probably damaging
Transcript: ENSMUST00000067505
AA Change: F304V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068551
Gene: ENSMUSG00000054434
AA Change: F304V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMPIT
|
9 |
332 |
1.9e-158 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111619
AA Change: F265V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000107246
Gene: ENSMUSG00000054434
AA Change: F265V
| 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: 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161660
|
| Meta Mutation Damage Score |
0.1281 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Cd27 |
T |
C |
6: 125,213,756 (GRCm39) |
T34A |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,691,130 (GRCm39) |
N291S |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,301,420 (GRCm39) |
C424S |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Myo1a |
A |
T |
10: 127,551,189 (GRCm39) |
I678F |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Skap1 |
T |
C |
11: 96,416,870 (GRCm39) |
Y52H |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Upb1 |
T |
G |
10: 75,248,723 (GRCm39) |
L81R |
probably damaging |
Het |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,384 (GRCm39) |
I315V |
probably benign |
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 |
|
R5603:Tmem120b
|
UTSW |
5 |
123,239,705 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
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'- TAGAGCCCTACCTGATTGGG -3'
(R):5'- CTGAGATGTTGCTGCCCATG -3'
Sequencing Primer
(F):5'- TACCTGATTGGGGGCCC -3'
(R):5'- ATGGCTACCACTGACCGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation