Incidental Mutation 'IGL01625:Tm6sf2'
ID |
92760 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tm6sf2
|
Ensembl Gene |
ENSMUSG00000036151 |
Gene Name |
transmembrane 6 superfamily member 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01625
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
70525574-70532716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 70528733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 162
(G162C)
|
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 null
Transcript: ENSMUST00000049197
AA Change: G162C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046114 Gene: ENSMUSG00000036151 AA Change: G162C
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 null
Transcript: ENSMUST00000110160
AA Change: G162C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105788 Gene: ENSMUSG00000036151 AA Change: G162C
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
A |
5: 144,979,957 (GRCm39) |
H37Q |
possibly damaging |
Het |
Akr1c19 |
T |
A |
13: 4,283,816 (GRCm39) |
I16N |
probably damaging |
Het |
Arpc1b |
T |
C |
5: 145,058,555 (GRCm39) |
|
probably null |
Het |
Bzw1 |
A |
G |
1: 58,440,599 (GRCm39) |
T191A |
probably benign |
Het |
Cacna1h |
G |
A |
17: 25,604,686 (GRCm39) |
T1209I |
possibly damaging |
Het |
Cacna1h |
T |
C |
17: 25,602,459 (GRCm39) |
D1523G |
probably damaging |
Het |
Cdc20b |
T |
C |
13: 113,196,319 (GRCm39) |
L148P |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,311,085 (GRCm39) |
F3147L |
possibly damaging |
Het |
Dagla |
A |
G |
19: 10,228,566 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,935,471 (GRCm39) |
N1983D |
probably damaging |
Het |
Fbxw10 |
G |
A |
11: 62,750,853 (GRCm39) |
D479N |
probably damaging |
Het |
Fer |
A |
T |
17: 64,344,621 (GRCm39) |
Q630L |
probably damaging |
Het |
Gbp5 |
A |
G |
3: 142,208,789 (GRCm39) |
N111D |
probably damaging |
Het |
Gm8127 |
T |
G |
14: 43,148,520 (GRCm39) |
|
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,428,409 (GRCm39) |
N814K |
probably damaging |
Het |
Iba57 |
G |
A |
11: 59,049,775 (GRCm39) |
R191W |
probably damaging |
Het |
Itgae |
C |
A |
11: 73,010,263 (GRCm39) |
F584L |
probably benign |
Het |
Kdm5b |
A |
G |
1: 134,545,706 (GRCm39) |
K956E |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,575,918 (GRCm39) |
|
probably benign |
Het |
Mybpc2 |
T |
C |
7: 44,166,337 (GRCm39) |
K218E |
possibly damaging |
Het |
Pcdh10 |
T |
C |
3: 45,333,832 (GRCm39) |
S49P |
probably damaging |
Het |
Prss3b |
A |
C |
6: 41,009,882 (GRCm39) |
S151A |
probably benign |
Het |
Rai14 |
T |
C |
15: 10,572,460 (GRCm39) |
D889G |
probably benign |
Het |
Rbpjl |
A |
G |
2: 164,249,705 (GRCm39) |
K102R |
possibly damaging |
Het |
Retreg2 |
A |
G |
1: 75,121,359 (GRCm39) |
|
probably benign |
Het |
Rfc4 |
A |
T |
16: 22,934,573 (GRCm39) |
L149Q |
probably damaging |
Het |
Rft1 |
T |
A |
14: 30,398,853 (GRCm39) |
D274E |
possibly damaging |
Het |
Rlf |
A |
T |
4: 121,045,457 (GRCm39) |
S143R |
possibly damaging |
Het |
Rptn |
T |
A |
3: 93,305,201 (GRCm39) |
S845T |
probably benign |
Het |
Slamf8 |
C |
A |
1: 172,410,049 (GRCm39) |
D267Y |
probably damaging |
Het |
Smoc2 |
C |
T |
17: 14,545,876 (GRCm39) |
S55L |
probably damaging |
Het |
Sptan1 |
C |
T |
2: 29,916,126 (GRCm39) |
A2038V |
probably damaging |
Het |
Stx17 |
C |
A |
4: 48,181,526 (GRCm39) |
P210T |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,224,601 (GRCm39) |
Y317H |
probably benign |
Het |
Tenm4 |
C |
A |
7: 96,534,565 (GRCm39) |
T1737N |
probably damaging |
Het |
Tesk2 |
T |
C |
4: 116,628,998 (GRCm39) |
F116L |
possibly damaging |
Het |
Tln2 |
T |
C |
9: 67,277,905 (GRCm39) |
S370G |
probably damaging |
Het |
Togaram2 |
A |
C |
17: 72,021,693 (GRCm39) |
E718D |
probably benign |
Het |
Ttn |
A |
C |
2: 76,578,327 (GRCm39) |
F15862V |
probably damaging |
Het |
Uba6 |
T |
A |
5: 86,268,388 (GRCm39) |
R916* |
probably null |
Het |
Umodl1 |
A |
G |
17: 31,215,229 (GRCm39) |
M1018V |
probably benign |
Het |
Wdr26 |
G |
A |
1: 181,019,381 (GRCm39) |
T332I |
possibly damaging |
Het |
Xdh |
A |
T |
17: 74,223,781 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Posted On |
2013-12-09 |