Incidental Mutation 'IGL03299:Tm7sf2'
ID |
416178 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tm7sf2
|
Ensembl Gene |
ENSMUSG00000024799 |
Gene Name |
transmembrane 7 superfamily member 2 |
Synonyms |
ANG1, 3110041O18Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03299
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6112958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 387
(I387M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025713]
[ENSMUST00000043074]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000160028]
[ENSMUST00000161090]
[ENSMUST00000162810]
[ENSMUST00000161528]
[ENSMUST00000179142]
[ENSMUST00000161718]
[ENSMUST00000162726]
[ENSMUST00000162575]
[ENSMUST00000178310]
|
AlphaFold |
Q71KT5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025713
AA Change: I414M
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000025713 Gene: ENSMUSG00000024799 AA Change: I414M
Domain | Start | End | E-Value | Type |
Pfam:ERG4_ERG24
|
7 |
418 |
1.6e-141 |
PFAM |
Pfam:DUF1295
|
250 |
409 |
9.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043074
|
SMART Domains |
Protein: ENSMUSP00000042835 Gene: ENSMUSG00000038274
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
70 |
2.55e-20 |
SMART |
Pfam:Ribosomal_S30
|
75 |
133 |
9.4e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113543
|
SMART Domains |
Protein: ENSMUSP00000109171 Gene: ENSMUSG00000024799
Domain | Start | End | E-Value | Type |
Pfam:ERG4_ERG24
|
7 |
373 |
9.9e-112 |
PFAM |
Pfam:DUF1295
|
249 |
396 |
2.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159084
AA Change: I387M
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000124868 Gene: ENSMUSG00000024799 AA Change: I387M
Domain | Start | End | E-Value | Type |
Pfam:ERG4_ERG24
|
7 |
300 |
6.4e-75 |
PFAM |
Pfam:ERG4_ERG24
|
292 |
391 |
2.2e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159832
|
SMART Domains |
Protein: ENSMUSP00000123994 Gene: ENSMUSG00000024797
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
Pfam:COG2
|
56 |
191 |
2e-10 |
PFAM |
Pfam:DUF2450
|
62 |
250 |
1.9e-14 |
PFAM |
Pfam:Vps51
|
63 |
149 |
8.3e-27 |
PFAM |
Pfam:Dor1
|
75 |
246 |
1.8e-19 |
PFAM |
Pfam:Sec5
|
101 |
275 |
1.6e-19 |
PFAM |
low complexity region
|
276 |
292 |
N/A |
INTRINSIC |
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
low complexity region
|
523 |
532 |
N/A |
INTRINSIC |
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159836
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160028
|
SMART Domains |
Protein: ENSMUSP00000124847 Gene: ENSMUSG00000024799
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160417
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160354
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162549
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162721
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161090
|
SMART Domains |
Protein: ENSMUSP00000125543 Gene: ENSMUSG00000024799
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162810
|
SMART Domains |
Protein: ENSMUSP00000124825 Gene: ENSMUSG00000024799
Domain | Start | End | E-Value | Type |
Pfam:ERG4_ERG24
|
9 |
124 |
6.9e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161528
|
SMART Domains |
Protein: ENSMUSP00000123989 Gene: ENSMUSG00000024799
Domain | Start | End | E-Value | Type |
Pfam:ERG4_ERG24
|
7 |
109 |
5.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179142
|
SMART Domains |
Protein: ENSMUSP00000136358 Gene: ENSMUSG00000038274
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
70 |
2.55e-20 |
SMART |
Pfam:Ribosomal_S30
|
75 |
132 |
6.7e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161718
|
SMART Domains |
Protein: ENSMUSP00000124283 Gene: ENSMUSG00000024799
Domain | Start | End | E-Value | Type |
Pfam:ERG4_ERG24
|
1 |
197 |
5.7e-86 |
PFAM |
Pfam:DUF1295
|
46 |
185 |
1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162726
|
SMART Domains |
Protein: ENSMUSP00000134031 Gene: ENSMUSG00000075227
Domain | Start | End | E-Value | Type |
Pfam:zf-HIT
|
3 |
36 |
2e-15 |
PFAM |
low complexity region
|
54 |
97 |
N/A |
INTRINSIC |
low complexity region
|
120 |
140 |
N/A |
INTRINSIC |
low complexity region
|
167 |
205 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162575
|
SMART Domains |
Protein: ENSMUSP00000125586 Gene: ENSMUSG00000024799
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:ERG4_ERG24
|
51 |
229 |
5.5e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178310
|
SMART Domains |
Protein: ENSMUSP00000136803 Gene: ENSMUSG00000038274
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
70 |
2.55e-20 |
SMART |
Pfam:Ribosomal_S30
|
75 |
133 |
9.4e-34 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit normal plasma cholesterol levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
A |
G |
X: 126,303,476 (GRCm39) |
|
probably benign |
Het |
Abca17 |
A |
T |
17: 24,484,565 (GRCm39) |
C1566S |
probably damaging |
Het |
Akr1cl |
A |
T |
1: 65,063,874 (GRCm39) |
L105H |
probably damaging |
Het |
Ano1 |
A |
G |
7: 144,207,993 (GRCm39) |
F256S |
probably damaging |
Het |
Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
Cers6 |
T |
A |
2: 68,692,128 (GRCm39) |
M50K |
probably benign |
Het |
Dnah1 |
G |
A |
14: 31,037,079 (GRCm39) |
Q256* |
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,585,644 (GRCm39) |
E852K |
possibly damaging |
Het |
Fars2 |
C |
T |
13: 36,721,384 (GRCm39) |
Q443* |
probably null |
Het |
Glb1l3 |
T |
C |
9: 26,770,748 (GRCm39) |
N106S |
probably damaging |
Het |
Haus7 |
T |
C |
X: 72,496,670 (GRCm39) |
|
probably null |
Het |
Hectd1 |
C |
T |
12: 51,847,671 (GRCm39) |
|
probably benign |
Het |
Hyal5 |
G |
T |
6: 24,877,881 (GRCm39) |
G326C |
probably damaging |
Het |
Ibtk |
A |
T |
9: 85,603,189 (GRCm39) |
D605E |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,649,125 (GRCm39) |
L415P |
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
Muc5b |
A |
G |
7: 141,395,117 (GRCm39) |
D41G |
unknown |
Het |
Mxra7 |
A |
G |
11: 116,695,360 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,249,207 (GRCm39) |
T1366A |
probably damaging |
Het |
Nmd3 |
C |
T |
3: 69,637,762 (GRCm39) |
|
probably null |
Het |
Or6c206 |
T |
C |
10: 129,097,196 (GRCm39) |
V122A |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,727,118 (GRCm39) |
N546S |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,371,247 (GRCm39) |
T139A |
possibly damaging |
Het |
Rarb |
T |
C |
14: 16,434,168 (GRCm38) |
K337E |
probably damaging |
Het |
Rps6ka4 |
C |
T |
19: 6,809,615 (GRCm39) |
|
probably benign |
Het |
Scamp2 |
A |
G |
9: 57,485,023 (GRCm39) |
|
probably null |
Het |
Scn3a |
T |
A |
2: 65,327,860 (GRCm39) |
M877L |
probably benign |
Het |
Sh3pxd2b |
T |
C |
11: 32,361,448 (GRCm39) |
|
probably benign |
Het |
Slc22a29 |
C |
T |
19: 8,140,012 (GRCm39) |
|
probably null |
Het |
Slc34a1 |
T |
C |
13: 24,005,094 (GRCm39) |
|
probably null |
Het |
Srbd1 |
A |
T |
17: 86,428,087 (GRCm39) |
I382N |
possibly damaging |
Het |
Wfs1 |
C |
A |
5: 37,125,731 (GRCm39) |
E311* |
probably null |
Het |
Zc3h13 |
G |
A |
14: 75,531,381 (GRCm39) |
R93H |
probably damaging |
Het |
|
Other mutations in Tm7sf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02292:Tm7sf2
|
APN |
19 |
6,113,598 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4791001:Tm7sf2
|
UTSW |
19 |
6,113,635 (GRCm39) |
missense |
probably benign |
0.00 |
R0033:Tm7sf2
|
UTSW |
19 |
6,116,452 (GRCm39) |
splice site |
probably benign |
|
R0033:Tm7sf2
|
UTSW |
19 |
6,116,452 (GRCm39) |
splice site |
probably benign |
|
R1607:Tm7sf2
|
UTSW |
19 |
6,113,049 (GRCm39) |
splice site |
probably null |
|
R3415:Tm7sf2
|
UTSW |
19 |
6,113,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R5392:Tm7sf2
|
UTSW |
19 |
6,113,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R5835:Tm7sf2
|
UTSW |
19 |
6,113,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5886:Tm7sf2
|
UTSW |
19 |
6,116,572 (GRCm39) |
unclassified |
probably benign |
|
R6065:Tm7sf2
|
UTSW |
19 |
6,113,416 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6300:Tm7sf2
|
UTSW |
19 |
6,117,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Tm7sf2
|
UTSW |
19 |
6,118,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R7037:Tm7sf2
|
UTSW |
19 |
6,114,107 (GRCm39) |
critical splice donor site |
probably null |
|
R7073:Tm7sf2
|
UTSW |
19 |
6,116,527 (GRCm39) |
critical splice donor site |
probably null |
|
R7328:Tm7sf2
|
UTSW |
19 |
6,114,156 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7373:Tm7sf2
|
UTSW |
19 |
6,116,676 (GRCm39) |
missense |
probably benign |
0.39 |
R7612:Tm7sf2
|
UTSW |
19 |
6,120,638 (GRCm39) |
missense |
probably benign |
0.08 |
R7779:Tm7sf2
|
UTSW |
19 |
6,112,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7903:Tm7sf2
|
UTSW |
19 |
6,121,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R7904:Tm7sf2
|
UTSW |
19 |
6,118,942 (GRCm39) |
missense |
probably damaging |
0.96 |
R8082:Tm7sf2
|
UTSW |
19 |
6,116,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R8155:Tm7sf2
|
UTSW |
19 |
6,114,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R8428:Tm7sf2
|
UTSW |
19 |
6,113,074 (GRCm39) |
missense |
probably benign |
0.00 |
R8993:Tm7sf2
|
UTSW |
19 |
6,113,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R9038:Tm7sf2
|
UTSW |
19 |
6,117,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |