Incidental Mutation 'R6214:Tm6sf2'
| ID |
503620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm6sf2
|
| Ensembl Gene |
ENSMUSG00000036151 |
| Gene Name |
transmembrane 6 superfamily member 2 |
| Synonyms |
|
| MMRRC Submission |
044347-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6214 (G1)
|
| Quality Score |
174.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70525574-70532716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70525724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 27
(V27A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000049197
AA Change: V27A
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151
AA Change: V27A
| 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 |
possibly damaging
Transcript: ENSMUST00000110160
AA Change: V27A
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151
AA Change: V27A
| 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 |
0.1852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
A |
C |
4: 135,968,736 (GRCm39) |
D727A |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,070,159 (GRCm39) |
Y909C |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
| Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,019,646 (GRCm39) |
E491G |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,880,334 (GRCm39) |
F206L |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,785,314 (GRCm39) |
H137Y |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
| Glra3 |
A |
G |
8: 56,444,291 (GRCm39) |
|
probably null |
Het |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Lrrc9 |
A |
T |
12: 72,506,627 (GRCm39) |
E301D |
probably damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,448,500 (GRCm39) |
I11T |
possibly damaging |
Het |
| Myo1d |
A |
T |
11: 80,670,617 (GRCm39) |
M1K |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
| Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,717 (GRCm39) |
I554T |
probably damaging |
Het |
| Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
| Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,206,423 (GRCm39) |
E735K |
unknown |
Het |
| Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
Het |
| Vsig10 |
G |
A |
5: 117,481,989 (GRCm39) |
C393Y |
probably damaging |
Het |
| Ywhag |
A |
G |
5: 135,939,928 (GRCm39) |
I222T |
probably damaging |
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 |
|
R6215:Tm6sf2
|
UTSW |
8 |
70,525,724 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6567:Tm6sf2
|
UTSW |
8 |
70,528,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGGTTCCTGGCAACTCAGAG -3'
(R):5'- TGGCACAGCATACATCCCTG -3'
Sequencing Primer
(F):5'- TCCTGGCAACTCAGAGCTCTG -3'
(R):5'- TCCCTGGAATACTCGTAAATGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation