Incidental Mutation 'R6322:Tmem161a'
ID |
510157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem161a
|
Ensembl Gene |
ENSMUSG00000002342 |
Gene Name |
transmembrane protein 161A |
Synonyms |
|
MMRRC Submission |
044476-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R6322 (G1)
|
Quality Score |
170.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70625006-70636331 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70634764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 447
(F447S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123084
(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: F473S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000002413 Gene: ENSMUSG00000002342 AA Change: F473S
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: F447S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123084 Gene: ENSMUSG00000002342 AA Change: F447S
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: F321S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000138499 Gene: ENSMUSG00000002342 AA Change: F321S
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: 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: ENSMUST00000139333
|
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 |
noncoding transcript
Transcript: ENSMUST00000143543
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133084
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182942
|
Meta Mutation Damage Score |
0.8866 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,559,843 (GRCm39) |
V211A |
probably benign |
Het |
Adora3 |
G |
A |
3: 105,814,760 (GRCm39) |
R170H |
probably benign |
Het |
Aldh1l1 |
T |
C |
6: 90,539,680 (GRCm39) |
I203T |
probably benign |
Het |
Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
Atcay |
A |
T |
10: 81,049,125 (GRCm39) |
I159K |
probably damaging |
Het |
Blvra |
A |
G |
2: 126,922,459 (GRCm39) |
|
probably benign |
Het |
Catspere2 |
T |
A |
1: 177,845,296 (GRCm39) |
Y105* |
probably null |
Het |
Celsr2 |
A |
G |
3: 108,319,890 (GRCm39) |
F974S |
probably damaging |
Het |
Cfap44 |
C |
T |
16: 44,254,029 (GRCm39) |
R918* |
probably null |
Het |
Cpa6 |
T |
A |
1: 10,547,346 (GRCm39) |
R181S |
possibly damaging |
Het |
Dlg1 |
A |
G |
16: 31,675,297 (GRCm39) |
N730D |
probably damaging |
Het |
Eif2ak1 |
A |
G |
5: 143,835,913 (GRCm39) |
T535A |
probably benign |
Het |
Fam13c |
A |
T |
10: 70,334,721 (GRCm39) |
D149V |
probably damaging |
Het |
Fam171a1 |
G |
A |
2: 3,227,392 (GRCm39) |
V717I |
probably benign |
Het |
Fchsd1 |
A |
G |
18: 38,098,753 (GRCm39) |
V290A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm15446 |
A |
T |
5: 110,091,383 (GRCm39) |
H545L |
probably damaging |
Het |
Heatr9 |
T |
G |
11: 83,407,538 (GRCm39) |
K215T |
possibly damaging |
Het |
Hfe |
T |
A |
13: 23,889,879 (GRCm39) |
H210L |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,066,543 (GRCm39) |
T1113A |
probably damaging |
Het |
Lipe |
A |
T |
7: 25,079,961 (GRCm39) |
V686E |
probably damaging |
Het |
Map3k20 |
T |
G |
2: 72,263,814 (GRCm39) |
L488V |
possibly damaging |
Het |
Moxd1 |
C |
T |
10: 24,160,709 (GRCm39) |
T454I |
probably damaging |
Het |
Mrpl58 |
C |
T |
11: 115,301,492 (GRCm39) |
R189* |
probably null |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nkx1-1 |
T |
C |
5: 33,588,389 (GRCm39) |
N300D |
probably damaging |
Het |
Nrm |
A |
T |
17: 36,175,605 (GRCm39) |
Q237L |
possibly damaging |
Het |
Numa1 |
T |
C |
7: 101,650,127 (GRCm39) |
L1286P |
probably damaging |
Het |
Or4f4-ps1 |
T |
C |
2: 111,329,729 (GRCm39) |
F44S |
possibly damaging |
Het |
Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,854,177 (GRCm39) |
I22V |
probably benign |
Het |
Phf21b |
C |
A |
15: 84,671,580 (GRCm39) |
R438L |
possibly damaging |
Het |
Pik3r5 |
T |
C |
11: 68,383,567 (GRCm39) |
L462P |
probably benign |
Het |
Plagl2 |
T |
C |
2: 153,073,806 (GRCm39) |
E365G |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,436,675 (GRCm39) |
Y677C |
possibly damaging |
Het |
Pramel13 |
A |
G |
4: 144,119,475 (GRCm39) |
M364T |
probably benign |
Het |
Prkcd |
C |
A |
14: 30,321,620 (GRCm39) |
G410W |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,428,186 (GRCm39) |
I348V |
probably damaging |
Het |
Rnmt |
C |
T |
18: 68,452,285 (GRCm39) |
P386S |
probably damaging |
Het |
Rtn3 |
G |
A |
19: 7,435,503 (GRCm39) |
P163L |
possibly damaging |
Het |
Sfxn1 |
T |
C |
13: 54,258,869 (GRCm39) |
C275R |
possibly damaging |
Het |
Sh2b2 |
A |
G |
5: 136,253,042 (GRCm39) |
S377P |
probably damaging |
Het |
Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,698,382 (GRCm39) |
L1334S |
probably damaging |
Het |
Slc9a2 |
C |
A |
1: 40,781,813 (GRCm39) |
Y347* |
probably null |
Het |
Snapc5 |
T |
A |
9: 64,089,455 (GRCm39) |
I71K |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,442,147 (GRCm39) |
C739R |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,983,808 (GRCm39) |
V28D |
possibly damaging |
Het |
Ubr3 |
C |
T |
2: 69,786,429 (GRCm39) |
Q848* |
probably null |
Het |
Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
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 |
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 |
|
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'- TTGATCCCTGTAGACCCTGC -3'
(R):5'- ATATTTCTGTAAAACGTGCCCC -3'
Sequencing Primer
(F):5'- CTGTAGACCCTGCAGGAGATG -3'
(R):5'- CACACACACTTGGGGATCATGG -3'
|
Posted On |
2018-04-02 |