Incidental Mutation 'R0033:Tm7sf2'
ID |
64568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tm7sf2
|
Ensembl Gene |
ENSMUSG00000024799 |
Gene Name |
transmembrane 7 superfamily member 2 |
Synonyms |
ANG1, 3110041O18Rik |
MMRRC Submission |
038327-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0033 (G1)
|
Quality Score |
212 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 6116452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000161090]
[ENSMUST00000161528]
[ENSMUST00000159832]
[ENSMUST00000160028]
[ENSMUST00000162810]
[ENSMUST00000162575]
[ENSMUST00000162726]
[ENSMUST00000161718]
|
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 benign
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: 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
|
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 |
noncoding transcript
Transcript: ENSMUST00000159211
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159475
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160354
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160417
|
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 |
noncoding transcript
Transcript: ENSMUST00000161634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160519
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160324
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159836
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161222
|
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000162721
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162549
|
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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
Validation Efficiency |
100% (81/81) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
C |
1: 120,115,794 (GRCm39) |
F110L |
probably damaging |
Het |
Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
Ankib1 |
A |
C |
5: 3,819,588 (GRCm39) |
D110E |
possibly damaging |
Het |
Auts2 |
G |
C |
5: 131,468,931 (GRCm39) |
D571E |
probably damaging |
Het |
Cacna1d |
T |
A |
14: 29,827,446 (GRCm39) |
Q993L |
probably damaging |
Het |
Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
Emilin2 |
G |
T |
17: 71,582,009 (GRCm39) |
T239K |
probably benign |
Het |
Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,377,017 (GRCm39) |
V151A |
probably damaging |
Het |
Fer1l4 |
G |
A |
2: 155,866,026 (GRCm39) |
|
probably benign |
Het |
Gm43302 |
T |
C |
5: 105,424,710 (GRCm39) |
D310G |
probably benign |
Het |
Gstk1 |
A |
G |
6: 42,223,737 (GRCm39) |
|
probably benign |
Het |
Hapln1 |
A |
T |
13: 89,749,932 (GRCm39) |
Q159L |
probably benign |
Het |
Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Kdm7a |
A |
T |
6: 39,142,131 (GRCm39) |
Y382* |
probably null |
Het |
Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
Klc4 |
A |
T |
17: 46,946,359 (GRCm39) |
C489S |
probably damaging |
Het |
Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
Macc1 |
T |
A |
12: 119,410,076 (GRCm39) |
N281K |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
Myoc |
G |
A |
1: 162,476,010 (GRCm39) |
G238E |
probably damaging |
Het |
Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,885,572 (GRCm39) |
|
probably benign |
Het |
Oplah |
T |
A |
15: 76,181,334 (GRCm39) |
Q1202L |
probably benign |
Het |
Or5p62 |
G |
T |
7: 107,771,134 (GRCm39) |
D272E |
probably benign |
Het |
Or9s23 |
A |
G |
1: 92,500,982 (GRCm39) |
T30A |
probably benign |
Het |
Ppargc1b |
G |
A |
18: 61,440,765 (GRCm39) |
R718W |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,881 (GRCm39) |
Y284F |
probably benign |
Het |
Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
Rnf225 |
T |
C |
7: 12,662,085 (GRCm39) |
L88P |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,055,929 (GRCm39) |
D820G |
probably benign |
Het |
Slc12a4 |
G |
T |
8: 106,674,111 (GRCm39) |
|
probably benign |
Het |
Slx4 |
C |
T |
16: 3,805,864 (GRCm39) |
A72T |
probably benign |
Het |
Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
Stap2 |
C |
T |
17: 56,306,976 (GRCm39) |
V234M |
probably damaging |
Het |
Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
Tdp1 |
C |
T |
12: 99,901,311 (GRCm39) |
T531I |
probably benign |
Het |
Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
Trav6n-5 |
T |
A |
14: 53,342,368 (GRCm39) |
M14K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,572,624 (GRCm39) |
I26090F |
probably damaging |
Het |
Tut1 |
G |
T |
19: 8,940,123 (GRCm39) |
R369L |
probably benign |
Het |
Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,959,991 (GRCm39) |
T597A |
probably benign |
Het |
Vmn1r58 |
A |
T |
7: 5,413,387 (GRCm39) |
I281K |
probably damaging |
Het |
Vmn1r59 |
A |
G |
7: 5,457,433 (GRCm39) |
V109A |
probably benign |
Het |
Xdh |
T |
A |
17: 74,214,627 (GRCm39) |
M773L |
probably benign |
Het |
Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCAAGTCCAGCAGAATTAAGTCC -3'
(R):5'- TTGGAAGTATGCAAGCCACCCC -3'
Sequencing Primer
(F):5'- GCAGAATTAAGTCCAGCATGTC -3'
(R):5'- TCCAGGCTCTGGTGCTAAC -3'
|
Posted On |
2013-08-06 |