Incidental Mutation 'IGL01355:Tmem121b'
| ID |
75498 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem121b
|
| Ensembl Gene |
ENSMUSG00000094626 |
| Gene Name |
transmembrane protein 121B |
| Synonyms |
Cecr6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01355
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
120465900-120470768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120469427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 430
(L430P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002976]
[ENSMUST00000178687]
|
| AlphaFold |
Q99MX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002976
|
| SMART Domains |
Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:IL17R_fnIII_D1
|
48 |
198 |
1.3e-70 |
PFAM |
|
Pfam:IL17R_fnIII_D2
|
199 |
303 |
9.6e-53 |
PFAM |
|
transmembrane domain
|
321 |
343 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
380 |
539 |
1.5e-51 |
PFAM |
|
low complexity region
|
747 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178687
AA Change: L430P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135924
Gene: ENSMUSG00000094626
AA Change: L430P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
215 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
305 |
N/A |
INTRINSIC |
|
Pfam:CECR6_TMEM121
|
308 |
512 |
3.6e-61 |
PFAM |
|
low complexity region
|
521 |
550 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
C |
T |
4: 153,470,938 (GRCm39) |
V290I |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,277,335 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
A |
T |
6: 86,729,187 (GRCm39) |
I140N |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,268,087 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
C |
T |
5: 18,018,072 (GRCm39) |
V214I |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,637 (GRCm39) |
L336S |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
| Gpr146 |
A |
T |
5: 139,364,659 (GRCm39) |
|
probably benign |
Het |
| Irf1 |
T |
C |
11: 53,665,187 (GRCm39) |
V188A |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,686,754 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
C |
13: 113,135,603 (GRCm39) |
F342S |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,533,074 (GRCm39) |
T141A |
probably benign |
Het |
| Mnd1 |
C |
A |
3: 84,023,784 (GRCm39) |
A101S |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,211 (GRCm39) |
S466P |
probably damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,438 (GRCm39) |
I296K |
probably benign |
Het |
| Or52z12 |
A |
G |
7: 103,233,580 (GRCm39) |
E117G |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,798,583 (GRCm39) |
G371V |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,450,538 (GRCm39) |
V199A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,470,685 (GRCm39) |
T54A |
possibly damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,588 (GRCm39) |
T871A |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,336,347 (GRCm39) |
M258V |
possibly damaging |
Het |
| Zbtb49 |
A |
G |
5: 38,367,960 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmem121b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02220:Tmem121b
|
APN |
6 |
120,469,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Tmem121b
|
UTSW |
6 |
120,469,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Tmem121b
|
UTSW |
6 |
120,469,030 (GRCm39) |
nonsense |
probably null |
|
|
R2257:Tmem121b
|
UTSW |
6 |
120,469,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Tmem121b
|
UTSW |
6 |
120,469,030 (GRCm39) |
nonsense |
probably null |
|
|
R2999:Tmem121b
|
UTSW |
6 |
120,469,943 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3833:Tmem121b
|
UTSW |
6 |
120,469,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Tmem121b
|
UTSW |
6 |
120,469,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4752:Tmem121b
|
UTSW |
6 |
120,469,995 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7699:Tmem121b
|
UTSW |
6 |
120,470,388 (GRCm39) |
missense |
unknown |
|
|
R7700:Tmem121b
|
UTSW |
6 |
120,470,388 (GRCm39) |
missense |
unknown |
|
|
R8061:Tmem121b
|
UTSW |
6 |
120,469,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8074:Tmem121b
|
UTSW |
6 |
120,469,869 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8266:Tmem121b
|
UTSW |
6 |
120,469,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Tmem121b
|
UTSW |
6 |
120,469,722 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8527:Tmem121b
|
UTSW |
6 |
120,469,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8907:Tmem121b
|
UTSW |
6 |
120,469,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9180:Tmem121b
|
UTSW |
6 |
120,469,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9329:Tmem121b
|
UTSW |
6 |
120,469,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Tmem121b
|
UTSW |
6 |
120,469,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation