Incidental Mutation 'R8155:Tm7sf2'
| ID |
633291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf2
|
| Ensembl Gene |
ENSMUSG00000024799 |
| Gene Name |
transmembrane 7 superfamily member 2 |
| Synonyms |
ANG1, 3110041O18Rik |
| MMRRC Submission |
067581-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8155 (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 6114125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 236
(D236V)
|
| 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]
[ENSMUST00000162810]
[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: D236V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
AA Change: D236V
| 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: D236V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799
AA Change: D236V
| 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: D236V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
AA Change: D236V
| 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: D36V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799
AA Change: D36V
| 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: D168V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799
AA Change: D168V
| 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 null
Transcript: ENSMUST00000162810
AA Change: D124V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799
AA Change: D124V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
9 |
124 |
6.9e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162810
AA Change: D124V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799
AA Change: D124V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
9 |
124 |
6.9e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162810
AA Change: D124V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799
AA Change: D124V
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,330,497 (GRCm39) |
T1386I |
probably damaging |
Het |
| Abcb6 |
A |
T |
1: 75,151,413 (GRCm39) |
V504E |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,476,473 (GRCm39) |
|
probably null |
Het |
| Adprhl1 |
C |
T |
8: 13,271,764 (GRCm39) |
A1665T |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,093,196 (GRCm39) |
L183H |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,953,958 (GRCm39) |
L24S |
probably damaging |
Het |
| B3gnt4 |
C |
T |
5: 123,649,426 (GRCm39) |
H264Y |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,739 (GRCm39) |
T208A |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,082,287 (GRCm39) |
F605Y |
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,466 (GRCm39) |
V21E |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,751,699 (GRCm39) |
L694P |
|
Het |
| Crybb3 |
A |
T |
5: 113,225,466 (GRCm39) |
D135E |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,470,205 (GRCm39) |
S1398T |
possibly damaging |
Het |
| Dusp5 |
T |
A |
19: 53,529,537 (GRCm39) |
Y313* |
probably null |
Het |
| Eloa |
A |
G |
4: 135,734,438 (GRCm39) |
V689A |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,505,269 (GRCm39) |
Y630N |
unknown |
Het |
| Galnt5 |
A |
T |
2: 57,889,427 (GRCm39) |
K342N |
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,409 (GRCm39) |
V228A |
probably damaging |
Het |
| Gna14 |
A |
T |
19: 16,576,338 (GRCm39) |
D115V |
probably benign |
Het |
| Gpx5 |
T |
C |
13: 21,472,917 (GRCm39) |
D139G |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,480,705 (GRCm39) |
N4490K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,828 (GRCm39) |
S63G |
unknown |
Het |
| Itpkb |
T |
C |
1: 180,159,913 (GRCm39) |
I13T |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,475,177 (GRCm39) |
S379P |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,503,508 (GRCm39) |
H300R |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,313,342 (GRCm39) |
L2463P |
possibly damaging |
Het |
| Morf4l1 |
A |
G |
9: 89,977,225 (GRCm39) |
I232T |
probably damaging |
Het |
| Mtg1 |
A |
G |
7: 139,724,622 (GRCm39) |
H166R |
probably benign |
Het |
| Or14a260 |
A |
G |
7: 85,985,386 (GRCm39) |
S73P |
probably damaging |
Het |
| Or2ad1 |
A |
G |
13: 21,327,062 (GRCm39) |
L55P |
probably damaging |
Het |
| Or52r1 |
C |
T |
7: 102,536,452 (GRCm39) |
D303N |
probably benign |
Het |
| Or5d46 |
A |
G |
2: 88,170,296 (GRCm39) |
N129S |
probably damaging |
Het |
| Or6d12 |
T |
A |
6: 116,492,813 (GRCm39) |
V25E |
probably benign |
Het |
| Or7g32 |
A |
T |
9: 19,389,453 (GRCm39) |
V31D |
probably benign |
Het |
| Papss2 |
A |
G |
19: 32,618,742 (GRCm39) |
T267A |
probably benign |
Het |
| Park7 |
G |
A |
4: 150,991,547 (GRCm39) |
R48C |
possibly damaging |
Het |
| Pecr |
A |
G |
1: 72,309,443 (GRCm39) |
V199A |
probably damaging |
Het |
| Pla2g10 |
G |
A |
16: 13,543,048 (GRCm39) |
R80W |
probably damaging |
Het |
| Plek2 |
G |
A |
12: 78,943,066 (GRCm39) |
R77* |
probably null |
Het |
| Psg23 |
A |
G |
7: 18,346,179 (GRCm39) |
L172P |
probably damaging |
Het |
| Psg25 |
A |
C |
7: 18,260,445 (GRCm39) |
F151C |
probably benign |
Het |
| Ptpn3 |
G |
T |
4: 57,232,336 (GRCm39) |
H433Q |
probably benign |
Het |
| Rasal3 |
A |
G |
17: 32,616,381 (GRCm39) |
V294A |
possibly damaging |
Het |
| Rnf6 |
T |
C |
5: 146,147,815 (GRCm39) |
D401G |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
T |
C |
5: 12,498,148 (GRCm39) |
|
probably null |
Het |
| Serpinb1c |
A |
T |
13: 33,081,038 (GRCm39) |
L15Q |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,611 (GRCm39) |
Y161N |
probably damaging |
Het |
| Spns2 |
T |
C |
11: 72,347,394 (GRCm39) |
M404V |
possibly damaging |
Het |
| Stk39 |
T |
A |
2: 68,097,410 (GRCm39) |
I479L |
probably damaging |
Het |
| Tbx15 |
C |
A |
3: 99,259,886 (GRCm39) |
Q586K |
possibly damaging |
Het |
| Thap11 |
C |
T |
8: 106,582,854 (GRCm39) |
R288* |
probably null |
Het |
| Tmem214 |
T |
C |
5: 31,029,136 (GRCm39) |
S192P |
possibly damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,439 (GRCm39) |
S543P |
possibly damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,860,524 (GRCm39) |
L466P |
probably damaging |
Het |
| Tspan18 |
C |
T |
2: 93,040,357 (GRCm39) |
|
probably null |
Het |
| Vmn1r229 |
T |
A |
17: 21,035,472 (GRCm39) |
L239Q |
probably damaging |
Het |
| Vsig2 |
T |
C |
9: 37,455,329 (GRCm39) |
V293A |
possibly damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,884,776 (GRCm39) |
V42D |
|
Het |
| Wnk2 |
G |
A |
13: 49,192,577 (GRCm39) |
P2055S |
unknown |
Het |
| Zfp953 |
C |
A |
13: 67,491,535 (GRCm39) |
C139F |
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 |
|
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'- GGCTGTAGGTGAATGGTACC -3'
(R):5'- ATTCAACATGTGAGCGGGCAG -3'
Sequencing Primer
(F):5'- GTGAATGGTACCCAAGCTAGATCTC -3'
(R):5'- CTGGAAGGAGGGCGAGGTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation