Incidental Mutation 'R7612:Tm7sf2'
| ID |
588695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf2
|
| Ensembl Gene |
ENSMUSG00000024799 |
| Gene Name |
transmembrane 7 superfamily member 2 |
| Synonyms |
ANG1, 3110041O18Rik |
| MMRRC Submission |
045680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6120638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 425
(V425A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000160028]
[ENSMUST00000160233]
[ENSMUST00000161090]
[ENSMUST00000161528]
[ENSMUST00000161718]
[ENSMUST00000162575]
[ENSMUST00000162810]
|
| AlphaFold |
Q71KT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025711
AA Change: V425A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
AA Change: V425A
| 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 |
probably benign
Transcript: ENSMUST00000159475
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159832
AA Change: V425A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797
AA Change: V425A
| 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: ENSMUST00000160233
|
| SMART Domains |
Protein: ENSMUSP00000124842
Gene: ENSMUSG00000024797
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
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 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: 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: ENSMUST00000162810
|
| SMART Domains |
Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
9 |
124 |
6.9e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
T |
16: 88,570,496 (GRCm39) |
Y181* |
probably null |
Het |
| Adgrf2 |
T |
G |
17: 43,025,271 (GRCm39) |
K71T |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,076 (GRCm39) |
M1280K |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,224,405 (GRCm39) |
S541P |
possibly damaging |
Het |
| Cd19 |
G |
T |
7: 126,013,496 (GRCm39) |
Q98K |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,493,341 (GRCm39) |
I788N |
possibly damaging |
Het |
| Cpne2 |
A |
T |
8: 95,284,048 (GRCm39) |
I290L |
probably benign |
Het |
| Cpsf1 |
C |
T |
15: 76,481,209 (GRCm39) |
V1216I |
probably benign |
Het |
| Csad |
G |
A |
15: 102,097,357 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
A |
2: 104,560,853 (GRCm39) |
Q47L |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,455,123 (GRCm39) |
S105T |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,047 (GRCm39) |
P838Q |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,999,647 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Egfr |
A |
T |
11: 16,809,025 (GRCm39) |
N73I |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,657 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
A |
G |
3: 151,923,652 (GRCm39) |
Q123R |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,311,693 (GRCm39) |
I439T |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,079,506 (GRCm39) |
S261R |
possibly damaging |
Het |
| Gsdmd |
T |
G |
15: 75,736,803 (GRCm39) |
L140R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,478 (GRCm39) |
V201A |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,135,361 (GRCm39) |
M371K |
probably benign |
Het |
| Kalrn |
G |
A |
16: 34,134,582 (GRCm39) |
T412I |
possibly damaging |
Het |
| Kdm5b |
C |
T |
1: 134,552,656 (GRCm39) |
Q1211* |
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,517,671 (GRCm39) |
S1840P |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,781 (GRCm39) |
M376V |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,469,745 (GRCm39) |
T100A |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 113,013,168 (GRCm39) |
T812S |
possibly damaging |
Het |
| Nanp |
T |
A |
2: 150,881,158 (GRCm39) |
E30V |
probably null |
Het |
| Or2w1b |
G |
T |
13: 21,300,217 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c107 |
T |
G |
2: 88,788,849 (GRCm39) |
L13R |
probably damaging |
Het |
| Or5ac21 |
A |
T |
16: 59,123,990 (GRCm39) |
H158L |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,393 (GRCm39) |
N241I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,175,610 (GRCm39) |
N1924D |
probably benign |
Het |
| Pou1f1 |
A |
G |
16: 65,326,811 (GRCm39) |
N137S |
probably damaging |
Het |
| Ptgdr |
A |
G |
14: 45,096,094 (GRCm39) |
M206T |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,004,696 (GRCm39) |
T20A |
probably benign |
Het |
| Rexo1 |
G |
C |
10: 80,385,497 (GRCm39) |
S520R |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,727,005 (GRCm39) |
S94T |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,576,785 (GRCm39) |
V182A |
probably benign |
Het |
| Slfn2 |
A |
G |
11: 82,961,089 (GRCm39) |
E356G |
probably damaging |
Het |
| Spry4 |
C |
A |
18: 38,722,982 (GRCm39) |
K260N |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,187,375 (GRCm39) |
M136L |
probably benign |
Het |
| Trim21 |
T |
A |
7: 102,208,742 (GRCm39) |
M326L |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,790,677 (GRCm39) |
Q158R |
probably benign |
Het |
| Tubgcp2 |
T |
A |
7: 139,580,964 (GRCm39) |
K663M |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,316 (GRCm39) |
I1094V |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,594,798 (GRCm39) |
S245P |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,351,838 (GRCm39) |
D34V |
probably null |
Het |
| Zbtb45 |
C |
T |
7: 12,741,326 (GRCm39) |
A311T |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,173,999 (GRCm39) |
S135P |
unknown |
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 |
|
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'- CCTGAAGTAGGGCTTATTGGAG -3'
(R):5'- ACTTTGCACTGGTTGAGCGG -3'
Sequencing Primer
(F):5'- GCTTATTGGAGAAGGACACCTCC -3'
(R):5'- TGACAACTCACTGCTGGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation