Incidental Mutation 'IGL02597:Tmem161a'
| ID |
299890 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem161a
|
| Ensembl Gene |
ENSMUSG00000002342 |
| Gene Name |
transmembrane protein 161A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70625006-70636331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70634693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 297
(R297S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002413]
[ENSMUST00000063788]
[ENSMUST00000110127]
[ENSMUST00000149105]
[ENSMUST00000182980]
[ENSMUST00000182715]
[ENSMUST00000147656]
[ENSMUST00000182365]
|
| AlphaFold |
Q8VCA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002413
AA Change: R449S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002413
Gene: ENSMUSG00000002342
AA Change: R449S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
478 |
6.8e-182 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063788
|
| SMART Domains |
Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
29 |
122 |
3.4e-23 |
PFAM |
|
Pfam:Mito_carr
|
127 |
219 |
1.4e-26 |
PFAM |
|
Pfam:Mito_carr
|
222 |
316 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110127
|
| SMART Domains |
Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
29 |
122 |
1.6e-23 |
PFAM |
|
Pfam:Mito_carr
|
127 |
219 |
7.2e-27 |
PFAM |
|
Pfam:Mito_carr
|
222 |
317 |
3.3e-22 |
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 |
probably damaging
Transcript: ENSMUST00000149105
AA Change: R423S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123084
Gene: ENSMUSG00000002342
AA Change: R423S
| 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 damaging
Transcript: ENSMUST00000182980
AA Change: R297S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138499
Gene: ENSMUSG00000002342
AA Change: R297S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
1 |
328 |
4.6e-133 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139333
|
| 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: 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 |
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,469,665 (GRCm39) |
Y862C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,465,851 (GRCm39) |
K1648E |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Atp7a |
A |
T |
X: 105,113,494 (GRCm39) |
N34I |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,033,953 (GRCm39) |
Y232C |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,555,720 (GRCm39) |
N738K |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,972 (GRCm39) |
V132A |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,456,169 (GRCm39) |
T946K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,156,965 (GRCm39) |
|
probably benign |
Het |
| Copz2 |
T |
C |
11: 96,748,425 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
C |
A |
19: 39,549,331 (GRCm39) |
S283* |
probably null |
Het |
| Dlec1 |
A |
T |
9: 118,963,604 (GRCm39) |
S973C |
probably damaging |
Het |
| Far1 |
A |
T |
7: 113,150,463 (GRCm39) |
T264S |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,373,633 (GRCm39) |
L1452P |
probably damaging |
Het |
| Irx5 |
A |
C |
8: 93,087,400 (GRCm39) |
N444T |
possibly damaging |
Het |
| Kcnip2 |
A |
G |
19: 45,784,712 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,761,712 (GRCm39) |
M546K |
unknown |
Het |
| Lrrc37a |
A |
G |
11: 103,395,113 (GRCm39) |
L104S |
probably benign |
Het |
| Med12 |
T |
C |
X: 100,328,538 (GRCm39) |
L1143P |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,645,016 (GRCm39) |
H1477R |
probably benign |
Het |
| Nkap |
T |
A |
X: 36,411,437 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,656 (GRCm39) |
V109A |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,646 (GRCm39) |
T204S |
possibly damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,386,318 (GRCm39) |
Q214* |
probably null |
Het |
| Pex1 |
C |
T |
5: 3,685,865 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,625 (GRCm39) |
N1066I |
probably damaging |
Het |
| Psmg1 |
T |
C |
16: 95,788,497 (GRCm39) |
E152G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,439,189 (GRCm39) |
I1560T |
probably damaging |
Het |
| Shd |
A |
G |
17: 56,280,987 (GRCm39) |
E221G |
possibly damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,497,824 (GRCm39) |
T478A |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tns1 |
A |
G |
1: 74,025,032 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
G |
A |
5: 87,228,783 (GRCm39) |
T420M |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,812,818 (GRCm39) |
R1652* |
probably null |
Het |
| Zap70 |
T |
A |
1: 36,811,001 (GRCm39) |
Y178* |
probably null |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,456 (GRCm39) |
F60L |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation