Incidental Mutation 'R8993:Tm7sf2'
| ID |
684573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf2
|
| Ensembl Gene |
ENSMUSG00000024799 |
| Gene Name |
transmembrane 7 superfamily member 2 |
| Synonyms |
ANG1, 3110041O18Rik |
| MMRRC Submission |
068824-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6113956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 263
(D263V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000043074]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000160028]
[ENSMUST00000161090]
[ENSMUST00000161528]
[ENSMUST00000161718]
[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 damaging
Transcript: ENSMUST00000025713
AA Change: D263V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
AA Change: D263V
| 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 damaging
Transcript: ENSMUST00000113543
AA Change: D263V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799
AA Change: D263V
| 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 damaging
Transcript: ENSMUST00000159084
AA Change: D263V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
AA Change: D263V
| 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 damaging
Transcript: ENSMUST00000161718
AA Change: D63V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799
AA Change: D63V
| 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 damaging
Transcript: ENSMUST00000162575
AA Change: D195V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799
AA Change: D195V
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
T |
5: 113,841,842 (GRCm39) |
C92* |
probably null |
Het |
| A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
| Acaa1a |
A |
T |
9: 119,178,418 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,008,835 (GRCm39) |
E864G |
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,016,156 (GRCm39) |
D387G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,588,955 (GRCm39) |
H574Y |
probably damaging |
Het |
| Arhgef16 |
C |
T |
4: 154,371,495 (GRCm39) |
E233K |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,355,525 (GRCm39) |
Y699F |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,092,101 (GRCm39) |
V251M |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,901,529 (GRCm39) |
A391V |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,974,210 (GRCm39) |
V2368G |
probably benign |
Het |
| Braf |
A |
G |
6: 39,639,085 (GRCm39) |
V222A |
probably damaging |
Het |
| Cd33 |
G |
T |
7: 43,182,871 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
T |
A |
5: 92,170,010 (GRCm39) |
K324N |
probably damaging |
Het |
| Celf6 |
A |
T |
9: 59,510,154 (GRCm39) |
T199S |
probably damaging |
Het |
| Cmtm4 |
A |
C |
8: 105,081,798 (GRCm39) |
D196E |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,535,451 (GRCm39) |
P921H |
unknown |
Het |
| Crmp1 |
T |
C |
5: 37,399,490 (GRCm39) |
M1T |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,543,262 (GRCm39) |
Y2303N |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,551,888 (GRCm39) |
T650K |
probably benign |
Het |
| Eif1ad15 |
A |
G |
12: 88,288,170 (GRCm39) |
F28L |
probably benign |
Het |
| Fam24a |
A |
G |
7: 130,938,269 (GRCm39) |
D53G |
probably benign |
Het |
| Foxa2 |
A |
T |
2: 147,886,626 (GRCm39) |
M69K |
probably benign |
Het |
| Gatad2a |
T |
A |
8: 70,362,585 (GRCm39) |
H601L |
probably damaging |
Het |
| Gimap4 |
A |
C |
6: 48,667,539 (GRCm39) |
D98A |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,501,623 (GRCm39) |
R371L |
possibly damaging |
Het |
| Golim4 |
G |
T |
3: 75,785,435 (GRCm39) |
A652E |
probably benign |
Het |
| Grid1 |
A |
G |
14: 34,748,899 (GRCm39) |
I240V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,272 (GRCm39) |
T400S |
unknown |
Het |
| Itk |
G |
A |
11: 46,225,735 (GRCm39) |
R539C |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,473,912 (GRCm39) |
D695V |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,839,441 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,298,710 (GRCm39) |
V129L |
possibly damaging |
Het |
| Lonrf1 |
C |
A |
8: 36,696,392 (GRCm39) |
E552D |
possibly damaging |
Het |
| Mpp3 |
A |
G |
11: 101,891,491 (GRCm39) |
I549T |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,394 (GRCm39) |
Y260H |
probably benign |
Het |
| Nipal2 |
T |
A |
15: 34,648,983 (GRCm39) |
K69* |
probably null |
Het |
| Nlrx1 |
G |
T |
9: 44,168,238 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,429,852 (GRCm39) |
A115E |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,673,810 (GRCm39) |
Y369H |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,943,431 (GRCm39) |
Y1286C |
possibly damaging |
Het |
| Poglut2 |
G |
T |
1: 44,151,924 (GRCm39) |
L322I |
possibly damaging |
Het |
| Pramel5 |
T |
C |
4: 143,999,529 (GRCm39) |
E186G |
possibly damaging |
Het |
| Qdpr |
C |
T |
5: 45,607,386 (GRCm39) |
G20D |
probably damaging |
Het |
| Rmnd1 |
T |
G |
10: 4,357,918 (GRCm39) |
I364L |
probably benign |
Het |
| Slc5a4a |
A |
T |
10: 76,022,369 (GRCm39) |
E568V |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,816,390 (GRCm39) |
I330F |
probably benign |
Het |
| Spesp1 |
T |
C |
9: 62,180,552 (GRCm39) |
T119A |
possibly damaging |
Het |
| Sypl1 |
G |
A |
12: 33,025,662 (GRCm39) |
S242N |
probably benign |
Het |
| Tbx18 |
G |
A |
9: 87,612,770 (GRCm39) |
T43M |
probably benign |
Het |
| Trbv21 |
T |
C |
6: 41,179,924 (GRCm39) |
I80T |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,228,667 (GRCm39) |
L747Q |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,707,813 (GRCm39) |
D498G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,583,714 (GRCm39) |
Y22431C |
probably null |
Het |
| Ubtfl1 |
T |
A |
9: 18,321,637 (GRCm39) |
S388R |
|
Het |
| Vmn2r118 |
A |
T |
17: 55,917,835 (GRCm39) |
L226I |
possibly damaging |
Het |
| Wdr46 |
A |
G |
17: 34,168,156 (GRCm39) |
H576R |
probably benign |
Het |
| Zfp426 |
A |
G |
9: 20,386,296 (GRCm39) |
F62L |
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 |
|
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 |
|
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 |
|
R9038:Tm7sf2
|
UTSW |
19 |
6,117,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGAGAAGCGTCAGAGCC -3'
(R):5'- TGGTCAATGGCTTCCAGTTGC -3'
Sequencing Primer
(F):5'- AAGCGTCAGAGCCTAGGC -3'
(R):5'- CAATGGCTTCCAGTTGCTGTATG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation