Incidental Mutation 'IGL01382:Tm6sf2'
| ID |
78902 |
| 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 # |
IGL01382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70525574-70532716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70531018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 257
(Y257C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049197]
[ENSMUST00000110160]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049197
AA Change: Y255C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151
AA Change: Y255C
| 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: Y257C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151
AA Change: Y257C
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
T |
5: 142,458,006 (GRCm39) |
R393L |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,860,511 (GRCm39) |
P1128T |
probably damaging |
Het |
| Atp12a |
T |
G |
14: 56,617,412 (GRCm39) |
C567W |
probably damaging |
Het |
| Bcat2 |
C |
A |
7: 45,237,684 (GRCm39) |
R312S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,356,684 (GRCm39) |
T151S |
probably damaging |
Het |
| Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,784,925 (GRCm39) |
D272G |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,095,733 (GRCm39) |
S596P |
probably damaging |
Het |
| Ephx4 |
A |
G |
5: 107,577,585 (GRCm39) |
E303G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gm9843 |
A |
T |
16: 76,200,460 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
C |
16: 18,362,950 (GRCm39) |
F11S |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,212,596 (GRCm39) |
T186M |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,086,380 (GRCm39) |
T381A |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,099,211 (GRCm39) |
I163K |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,127,111 (GRCm39) |
Y348* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,389,581 (GRCm39) |
D1948V |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,864 (GRCm39) |
I83T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,799 (GRCm39) |
E1530V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,364 (GRCm39) |
E720K |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,132,837 (GRCm39) |
Q50L |
probably damaging |
Het |
| Or5p70 |
G |
A |
7: 107,994,452 (GRCm39) |
V42M |
probably benign |
Het |
| Or9s15 |
A |
G |
1: 92,524,922 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,488 (GRCm39) |
M1575K |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,797 (GRCm38) |
M643R |
probably benign |
Het |
| Reck |
T |
A |
4: 43,940,662 (GRCm39) |
C824S |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,382,934 (GRCm39) |
T689I |
possibly damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,072,161 (GRCm39) |
S358T |
probably benign |
Het |
| Sec14l3 |
G |
T |
11: 4,018,104 (GRCm39) |
C128F |
probably damaging |
Het |
| Serpinf2 |
C |
T |
11: 75,328,863 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
C |
T |
5: 112,573,487 (GRCm39) |
V842I |
probably benign |
Het |
| Tmpo |
T |
C |
10: 91,001,912 (GRCm39) |
D99G |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,033 (GRCm39) |
N329K |
probably damaging |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,708 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,578 (GRCm39) |
L494* |
probably null |
Het |
| Wdr18 |
T |
C |
10: 79,801,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Zfp663 |
T |
A |
2: 165,200,935 (GRCm39) |
Y33F |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,353,781 (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 |
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation