Incidental Mutation 'R7037:Tm7sf2'
| ID |
546802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf2
|
| Ensembl Gene |
ENSMUSG00000024799 |
| Gene Name |
transmembrane 7 superfamily member 2 |
| Synonyms |
ANG1, 3110041O18Rik |
| MMRRC Submission |
045137-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 6114107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000025713]
[ENSMUST00000043074]
[ENSMUST00000113543]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000160028]
[ENSMUST00000161090]
[ENSMUST00000161528]
[ENSMUST00000161718]
[ENSMUST00000161718]
[ENSMUST00000162575]
[ENSMUST00000162575]
[ENSMUST00000162726]
[ENSMUST00000162810]
[ENSMUST00000178310]
[ENSMUST00000179142]
|
| AlphaFold |
Q71KT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025711
|
| SMART Domains |
Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:COG2
|
56 |
191 |
2.6e-10 |
PFAM |
|
Pfam:DUF2450
|
62 |
250 |
2.3e-14 |
PFAM |
|
Pfam:Vps51
|
63 |
149 |
1.1e-26 |
PFAM |
|
Pfam:Dor1
|
75 |
246 |
1.8e-19 |
PFAM |
|
Pfam:Zw10
|
83 |
291 |
2.2e-8 |
PFAM |
|
Pfam:Sec5
|
101 |
275 |
6.5e-24 |
PFAM |
|
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 |
probably null
Transcript: ENSMUST00000025713
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
| 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 null
Transcript: ENSMUST00000025713
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
| 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 null
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 null
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 null
Transcript: ENSMUST00000159084
|
| SMART Domains |
Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
| 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 null
Transcript: ENSMUST00000159084
|
| SMART Domains |
Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
| 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: ENSMUST00000159475
|
| 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 |
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 |
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: 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 null
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 null
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 null
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 null
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: 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: 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
T |
7: 119,367,266 (GRCm39) |
N33I |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,740,712 (GRCm39) |
V314D |
probably damaging |
Het |
| Arl14epl |
T |
G |
18: 47,065,510 (GRCm39) |
C92G |
probably benign |
Het |
| Atp6v1h |
T |
A |
1: 5,220,215 (GRCm39) |
M423K |
possibly damaging |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Baz2b |
C |
T |
2: 59,764,014 (GRCm39) |
|
probably null |
Het |
| Bicral |
T |
C |
17: 47,135,560 (GRCm39) |
H550R |
probably benign |
Het |
| C1rl |
A |
G |
6: 124,485,598 (GRCm39) |
Y323C |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,609,036 (GRCm39) |
H239Q |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,344,267 (GRCm39) |
R91* |
probably null |
Het |
| Coro1c |
A |
G |
5: 113,983,457 (GRCm39) |
F357S |
possibly damaging |
Het |
| Cpsf4 |
G |
A |
5: 145,112,939 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Cryzl2 |
G |
A |
1: 157,298,318 (GRCm39) |
V236I |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,435,117 (GRCm39) |
E247G |
probably damaging |
Het |
| Dbr1 |
T |
A |
9: 99,458,621 (GRCm39) |
|
probably null |
Het |
| Dclk1 |
T |
C |
3: 55,370,469 (GRCm39) |
S23P |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,692,938 (GRCm39) |
I361F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,874,537 (GRCm39) |
E218G |
probably benign |
Het |
| Eml4 |
T |
A |
17: 83,732,756 (GRCm39) |
D136E |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,118,844 (GRCm39) |
S223T |
probably benign |
Het |
| Garin5b |
G |
T |
7: 4,761,584 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
G |
T |
9: 121,794,592 (GRCm39) |
V249L |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,474 (GRCm39) |
C69R |
unknown |
Het |
| Gna14 |
A |
T |
19: 16,511,128 (GRCm39) |
H59L |
|
Het |
| H2-Ab1 |
T |
A |
17: 34,486,963 (GRCm39) |
I239N |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,351,717 (GRCm39) |
S809P |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,896,391 (GRCm39) |
Y1379* |
probably null |
Het |
| Kank1 |
A |
G |
19: 25,407,705 (GRCm39) |
D1233G |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lrrc66 |
A |
T |
5: 73,764,504 (GRCm39) |
D846E |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,791,251 (GRCm39) |
H38R |
probably damaging |
Het |
| Mc3r |
T |
C |
2: 172,091,554 (GRCm39) |
F259L |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,532,206 (GRCm39) |
Y384H |
probably damaging |
Het |
| Met |
A |
T |
6: 17,547,127 (GRCm39) |
|
probably benign |
Het |
| Mmp16 |
T |
C |
4: 18,116,148 (GRCm39) |
V584A |
possibly damaging |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,942 (GRCm39) |
L203P |
probably damaging |
Het |
| Mus81 |
A |
G |
19: 5,536,108 (GRCm39) |
L185P |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,424,934 (GRCm39) |
V75A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,934,755 (GRCm39) |
T5292S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,943,430 (GRCm39) |
S4801G |
probably damaging |
Het |
| Or2ag19 |
T |
C |
7: 106,444,543 (GRCm39) |
S242P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,538,882 (GRCm39) |
D1112G |
probably benign |
Het |
| Pals1 |
T |
A |
12: 78,843,973 (GRCm39) |
I59N |
probably damaging |
Het |
| Pbx4 |
A |
G |
8: 70,317,525 (GRCm39) |
R170G |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Plce1 |
A |
T |
19: 38,690,461 (GRCm39) |
D715V |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,246,770 (GRCm39) |
T311A |
possibly damaging |
Het |
| Popdc2 |
A |
G |
16: 38,194,629 (GRCm39) |
D350G |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,429,100 (GRCm39) |
V661A |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,545,557 (GRCm39) |
Y130H |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,727,971 (GRCm39) |
R2707W |
probably damaging |
Het |
| Rpl37 |
G |
A |
15: 5,147,185 (GRCm39) |
R75K |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,779,475 (GRCm39) |
R259* |
probably null |
Het |
| Scai |
A |
T |
2: 39,080,633 (GRCm39) |
S8T |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,211,726 (GRCm39) |
L1430F |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,686,993 (GRCm39) |
K1035R |
probably damaging |
Het |
| Siah3 |
A |
G |
14: 75,763,025 (GRCm39) |
H92R |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,925,528 (GRCm39) |
V342I |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,848,138 (GRCm39) |
C1330Y |
possibly damaging |
Het |
| St18 |
C |
A |
1: 6,873,260 (GRCm39) |
H332N |
possibly damaging |
Het |
| Sycp1 |
T |
A |
3: 102,806,250 (GRCm39) |
E480D |
possibly damaging |
Het |
| Tex14 |
A |
T |
11: 87,388,741 (GRCm39) |
I323F |
probably damaging |
Het |
| Tmem241 |
G |
T |
18: 12,246,463 (GRCm39) |
H62Q |
probably benign |
Het |
| Tmem54 |
T |
A |
4: 129,004,594 (GRCm39) |
|
probably null |
Het |
| Tomm34 |
A |
G |
2: 163,912,398 (GRCm39) |
L39P |
probably damaging |
Het |
| Triml2 |
T |
A |
8: 43,646,573 (GRCm39) |
V354D |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,374,157 (GRCm39) |
I738T |
possibly damaging |
Het |
| Utp25 |
A |
C |
1: 192,803,031 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,702,514 (GRCm39) |
|
probably null |
Het |
| Zfp1005 |
G |
T |
2: 150,108,376 (GRCm39) |
V46F |
possibly 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 |
|
IGL03299:Tm7sf2
|
APN |
19 |
6,112,958 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGGTGAATGGTACCCAAG -3'
(R):5'- CCATTCAACATGTGAGCGGG -3'
Sequencing Primer
(F):5'- GTGAATGGTACCCAAGCTAGATCTC -3'
(R):5'- CGGCACTGTTCTACCCAGATG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation