Incidental Mutation 'R4284:Tmem161a'
ID |
500513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem161a
|
Ensembl Gene |
ENSMUSG00000002342 |
Gene Name |
transmembrane protein 161A |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R4284 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70625006-70636331 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 70630076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002413]
[ENSMUST00000182980]
[ENSMUST00000182715]
[ENSMUST00000149105]
[ENSMUST00000182365]
[ENSMUST00000147656]
|
AlphaFold |
Q8VCA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002413
|
SMART Domains |
Protein: ENSMUSP00000002413 Gene: ENSMUSG00000002342
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 |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000143543
|
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: ENSMUST00000149105
|
SMART Domains |
Protein: ENSMUSP00000123084 Gene: ENSMUSG00000002342
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: ENSMUST00000182365
|
SMART Domains |
Protein: ENSMUSP00000138641 Gene: ENSMUSG00000002342
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_161AB
|
2 |
98 |
3.7e-42 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147656
|
SMART Domains |
Protein: ENSMUSP00000138017 Gene: ENSMUSG00000002342
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: ENSMUST00000182942
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
Capg |
T |
C |
6: 72,538,082 (GRCm39) |
Y323H |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,139,272 (GRCm39) |
T3314A |
possibly damaging |
Het |
Cilp |
A |
T |
9: 65,185,560 (GRCm39) |
T552S |
probably damaging |
Het |
Cox16 |
T |
C |
12: 81,521,293 (GRCm39) |
|
probably null |
Het |
Ctu2 |
G |
A |
8: 123,204,978 (GRCm39) |
V88I |
probably benign |
Het |
Elfn1 |
A |
T |
5: 139,958,069 (GRCm39) |
K358* |
probably null |
Het |
Enpp6 |
T |
C |
8: 47,522,050 (GRCm39) |
F328S |
probably damaging |
Het |
Galnt12 |
T |
C |
4: 47,104,231 (GRCm39) |
L163P |
probably damaging |
Het |
Gcfc2 |
G |
A |
6: 81,918,372 (GRCm39) |
R354H |
probably damaging |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
Ikbke |
C |
T |
1: 131,203,515 (GRCm39) |
|
probably null |
Het |
Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
Jmjd6 |
T |
C |
11: 116,733,534 (GRCm39) |
R48G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lilra6 |
T |
C |
7: 3,911,803 (GRCm39) |
H285R |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,310,438 (GRCm39) |
R2712C |
possibly damaging |
Het |
Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
Relch |
A |
G |
1: 105,649,012 (GRCm39) |
D717G |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,883,345 (GRCm39) |
T318A |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
Sox5 |
T |
C |
6: 143,781,055 (GRCm39) |
K570E |
probably damaging |
Het |
Ssbp1 |
T |
G |
6: 40,454,851 (GRCm39) |
|
probably null |
Het |
Sult5a1 |
A |
G |
8: 123,875,969 (GRCm39) |
S116P |
probably damaging |
Het |
Tktl2 |
T |
A |
8: 66,965,808 (GRCm39) |
D455E |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,878,780 (GRCm39) |
Y204C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,623,211 (GRCm39) |
K13663* |
probably null |
Het |
Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
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 |
R2384:Tmem161a
|
UTSW |
8 |
70,630,204 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- GTGGGCAAATGGTCTTCATGAC -3'
(R):5'- TCACCCACATGCTAAGTGCC -3'
Sequencing Primer
(F):5'- GTCTTCATGACGAGAAGCCATTGTC -3'
(R):5'- CCACATGCTAAGTGCCAGAGAAG -3'
|
Posted On |
2017-12-01 |