Incidental Mutation 'R2384:Tmem161a'
| ID |
247643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem161a
|
| Ensembl Gene |
ENSMUSG00000002342 |
| Gene Name |
transmembrane protein 161A |
| Synonyms |
|
| MMRRC Submission |
040358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R2384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70625006-70636331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70630204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 104
(V104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002413]
[ENSMUST00000149105]
[ENSMUST00000147656]
[ENSMUST00000182980]
[ENSMUST00000182715]
[ENSMUST00000182365]
|
| AlphaFold |
Q8VCA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002413
AA Change: V130A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002413
Gene: ENSMUSG00000002342
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
478 |
6.8e-182 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125755
|
| Predicted Effect |
silent
Transcript: ENSMUST00000125906
|
| SMART Domains |
Protein: ENSMUSP00000137791
Gene: ENSMUSG00000002342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
1 |
119 |
8.7e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133339
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149105
AA Change: V104A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123084
Gene: ENSMUSG00000002342
AA Change: V104A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
1 |
95 |
5.1e-41 |
PFAM |
|
Pfam:Tmemb_161AB
|
93 |
454 |
9.5e-148 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147656
AA Change: V130A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138017
Gene: ENSMUSG00000002342
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
270 |
4.6e-122 |
PFAM |
|
low complexity region
|
283 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182942
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182980
|
| SMART Domains |
Protein: ENSMUSP00000138499
Gene: ENSMUSG00000002342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
1 |
328 |
4.6e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182715
|
| SMART Domains |
Protein: ENSMUSP00000138432
Gene: ENSMUSG00000002342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
45 |
3.3e-15 |
PFAM |
|
low complexity region
|
152 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182365
|
| SMART Domains |
Protein: ENSMUSP00000138641
Gene: ENSMUSG00000002342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
98 |
3.7e-42 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4933414I15Rik |
A |
G |
11: 50,833,333 (GRCm39) |
S90P |
unknown |
Het |
| Abca13 |
T |
C |
11: 9,217,450 (GRCm39) |
|
probably benign |
Het |
| Chpf |
C |
T |
1: 75,451,753 (GRCm39) |
R567H |
probably benign |
Het |
| Cnp |
A |
G |
11: 100,467,279 (GRCm39) |
Y74C |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,406 (GRCm39) |
V273D |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,951,591 (GRCm39) |
Y656C |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,470,288 (GRCm39) |
E107V |
possibly damaging |
Het |
| Fscn2 |
T |
C |
11: 120,257,559 (GRCm39) |
S307P |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,936 (GRCm39) |
E62G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,912,207 (GRCm39) |
Y394C |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,306 (GRCm39) |
I314T |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,863,964 (GRCm39) |
I293L |
probably benign |
Het |
| Il36g |
A |
G |
2: 24,082,660 (GRCm39) |
H145R |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,814,864 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,976 (GRCm39) |
S369G |
probably damaging |
Het |
| Klrh1 |
T |
A |
6: 129,749,343 (GRCm39) |
H84L |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,753,261 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
A |
G |
9: 124,349,707 (GRCm38) |
|
noncoding transcript |
Het |
| Obscn |
A |
G |
11: 58,933,663 (GRCm39) |
|
probably null |
Het |
| Ogdh |
C |
A |
11: 6,292,526 (GRCm39) |
A413D |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,879,269 (GRCm39) |
E283G |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,214,026 (GRCm39) |
D456G |
probably benign |
Het |
| Saxo4 |
A |
C |
19: 10,458,646 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
C |
9: 75,573,008 (GRCm39) |
T308A |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,878,344 (GRCm39) |
T228A |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,393 (GRCm39) |
E138G |
probably damaging |
Het |
| Tmem232 |
G |
A |
17: 65,709,852 (GRCm39) |
R479W |
probably damaging |
Het |
| Trim26 |
C |
T |
17: 37,161,781 (GRCm39) |
P67S |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,378 (GRCm39) |
Y787C |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,074 (GRCm39) |
V1447D |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,199 (GRCm39) |
A527T |
probably damaging |
Het |
| Ucp2 |
A |
G |
7: 100,147,461 (GRCm39) |
I172V |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,749,220 (GRCm39) |
Y903N |
probably damaging |
Het |
|
| Other mutations in Tmem161a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Tmem161a
|
APN |
8 |
70,631,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Tmem161a
|
APN |
8 |
70,629,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02597:Tmem161a
|
APN |
8 |
70,634,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Tmem161a
|
APN |
8 |
70,633,887 (GRCm39) |
nonsense |
probably null |
|
|
PIT4431001:Tmem161a
|
UTSW |
8 |
70,634,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0498:Tmem161a
|
UTSW |
8 |
70,633,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1881:Tmem161a
|
UTSW |
8 |
70,633,435 (GRCm39) |
missense |
probably null |
1.00 |
|
R1970:Tmem161a
|
UTSW |
8 |
70,629,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Tmem161a
|
UTSW |
8 |
70,629,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Tmem161a
|
UTSW |
8 |
70,630,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Tmem161a
|
UTSW |
8 |
70,631,565 (GRCm39) |
intron |
probably benign |
|
|
R2872:Tmem161a
|
UTSW |
8 |
70,631,565 (GRCm39) |
intron |
probably benign |
|
|
R4271:Tmem161a
|
UTSW |
8 |
70,634,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4284:Tmem161a
|
UTSW |
8 |
70,630,076 (GRCm39) |
intron |
probably benign |
|
|
R4576:Tmem161a
|
UTSW |
8 |
70,634,713 (GRCm39) |
splice site |
probably null |
|
|
R4677:Tmem161a
|
UTSW |
8 |
70,633,597 (GRCm39) |
splice site |
probably null |
|
|
R6322:Tmem161a
|
UTSW |
8 |
70,634,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Tmem161a
|
UTSW |
8 |
70,633,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Tmem161a
|
UTSW |
8 |
70,630,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Tmem161a
|
UTSW |
8 |
70,630,154 (GRCm39) |
start gained |
probably benign |
|
|
R8269:Tmem161a
|
UTSW |
8 |
70,634,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8695:Tmem161a
|
UTSW |
8 |
70,627,047 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9261:Tmem161a
|
UTSW |
8 |
70,631,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9355:Tmem161a
|
UTSW |
8 |
70,633,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9657:Tmem161a
|
UTSW |
8 |
70,630,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCCTAGGTAACACCCAG -3'
(R):5'- GAGTTCAAAATCAGGATGGCC -3'
Sequencing Primer
(F):5'- CAGCTGCTGGGGTCATTC -3'
(R):5'- GATGGCCTGCATCCTCTGAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation