Incidental Mutation 'R6567:Tm6sf2'
| ID |
522748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm6sf2
|
| Ensembl Gene |
ENSMUSG00000036151 |
| Gene Name |
transmembrane 6 superfamily member 2 |
| Synonyms |
|
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70525574-70532716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70528174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 108
(H108N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011450]
[ENSMUST00000049197]
[ENSMUST00000110160]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011450
|
| SMART Domains |
Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
|
SWAP
|
185 |
239 |
8e-20 |
SMART |
|
SWAP
|
260 |
314 |
4.09e-17 |
SMART |
|
low complexity region
|
344 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
|
G_patch
|
558 |
605 |
3.25e-17 |
SMART |
|
low complexity region
|
628 |
643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049197
AA Change: H108N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151
AA Change: H108N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
171 |
190 |
N/A |
INTRINSIC |
|
Pfam:DUF2781
|
216 |
357 |
4e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110160
AA Change: H108N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151
AA Change: H108N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
171 |
190 |
N/A |
INTRINSIC |
|
Pfam:DUF2781
|
218 |
357 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149928
|
| Meta Mutation Damage Score |
0.1600 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a null allele show hepatosteatosis, hypocholesterolemia, increased serum alanine transaminase level, reduced VLDL-TG secretion, small VLDL particles, and lipid accumulation in enterocytes. Homozygotes for another null allele show reduced total cholesterol and LDL cholesterol levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
probably benign |
Het |
|
| Other mutations in Tm6sf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Tm6sf2
|
APN |
8 |
70,530,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01382:Tm6sf2
|
APN |
8 |
70,531,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01625:Tm6sf2
|
APN |
8 |
70,528,733 (GRCm39) |
missense |
probably null |
1.00 |
|
decadence
|
UTSW |
8 |
70,528,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Tm6sf2
|
UTSW |
8 |
70,530,518 (GRCm39) |
splice site |
probably benign |
|
|
R0333:Tm6sf2
|
UTSW |
8 |
70,530,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0502:Tm6sf2
|
UTSW |
8 |
70,530,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1427:Tm6sf2
|
UTSW |
8 |
70,528,232 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1665:Tm6sf2
|
UTSW |
8 |
70,531,580 (GRCm39) |
splice site |
probably benign |
|
|
R1863:Tm6sf2
|
UTSW |
8 |
70,532,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2106:Tm6sf2
|
UTSW |
8 |
70,532,396 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4974:Tm6sf2
|
UTSW |
8 |
70,528,128 (GRCm39) |
intron |
probably benign |
|
|
R5358:Tm6sf2
|
UTSW |
8 |
70,526,939 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5875:Tm6sf2
|
UTSW |
8 |
70,528,039 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5914:Tm6sf2
|
UTSW |
8 |
70,528,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6214:Tm6sf2
|
UTSW |
8 |
70,525,724 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6215:Tm6sf2
|
UTSW |
8 |
70,525,724 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7001:Tm6sf2
|
UTSW |
8 |
70,530,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7180:Tm6sf2
|
UTSW |
8 |
70,528,656 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7448:Tm6sf2
|
UTSW |
8 |
70,530,589 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8098:Tm6sf2
|
UTSW |
8 |
70,526,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Tm6sf2
|
UTSW |
8 |
70,530,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCACACCCATACTTGGC -3'
(R):5'- CCTGGAAATGTTCTCGAGCC -3'
Sequencing Primer
(F):5'- ACACCCATACTTGGCCCTGTC -3'
(R):5'- GGAAATGTTCTCGAGCCTTCCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation