Incidental Mutation 'R1607:Tm7sf2'
| ID |
176592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf2
|
| Ensembl Gene |
ENSMUSG00000024799 |
| Gene Name |
transmembrane 7 superfamily member 2 |
| Synonyms |
ANG1, 3110041O18Rik |
| MMRRC Submission |
039644-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1607 (G1)
|
| Quality Score |
98 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3495 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 6113049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000043074]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000161718]
[ENSMUST00000161528]
[ENSMUST00000179142]
[ENSMUST00000162810]
[ENSMUST00000161090]
[ENSMUST00000162575]
[ENSMUST00000162726]
[ENSMUST00000160028]
[ENSMUST00000178310]
|
| 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
AA Change: V384A
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
AA Change: V384A
| 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: 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 |
silent
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
AA Change: V357A
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
AA Change: V357A
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000159836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161718
AA Change: V184A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799
AA Change: V184A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
1 |
197 |
5.7e-86 |
PFAM |
|
Pfam:DUF1295
|
46 |
185 |
1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162721
|
| 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: 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 |
|
| 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: 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: 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: 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: 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 null
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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abca14 |
C |
T |
7: 119,850,514 (GRCm39) |
P789S |
probably damaging |
Het |
| Adam17 |
T |
A |
12: 21,384,139 (GRCm39) |
|
probably null |
Het |
| Afdn |
C |
T |
17: 14,030,763 (GRCm39) |
R224W |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,219,306 (GRCm39) |
Y1215H |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 89,878,410 (GRCm39) |
D73V |
probably damaging |
Het |
| Bpifb6 |
T |
C |
2: 153,748,781 (GRCm39) |
F259S |
probably damaging |
Het |
| Cenpv |
A |
T |
11: 62,416,002 (GRCm39) |
M249K |
probably benign |
Het |
| Ces1d |
C |
T |
8: 93,912,746 (GRCm39) |
V231I |
probably benign |
Het |
| Clasp1 |
G |
A |
1: 118,432,689 (GRCm39) |
V460I |
probably damaging |
Het |
| Cnot10 |
A |
T |
9: 114,458,163 (GRCm39) |
Y114* |
probably null |
Het |
| Cpb1 |
G |
T |
3: 20,317,946 (GRCm39) |
R193S |
probably benign |
Het |
| Ctc1 |
T |
C |
11: 68,926,976 (GRCm39) |
S1207P |
possibly damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,435,432 (GRCm39) |
K142M |
probably damaging |
Het |
| Dhrs7b |
T |
G |
11: 60,742,717 (GRCm39) |
D136E |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,329,806 (GRCm39) |
S3217P |
probably damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,853,874 (GRCm39) |
S480L |
probably benign |
Het |
| Enah |
A |
T |
1: 181,744,762 (GRCm39) |
|
probably null |
Het |
| Epx |
T |
C |
11: 87,759,538 (GRCm39) |
D517G |
probably damaging |
Het |
| Gabrg2 |
T |
A |
11: 41,867,490 (GRCm39) |
D43V |
probably damaging |
Het |
| Gdf9 |
A |
T |
11: 53,328,338 (GRCm39) |
E431D |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,350,056 (GRCm39) |
D374G |
probably damaging |
Het |
| Gin1 |
A |
T |
1: 97,713,875 (GRCm39) |
I392F |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,529,703 (GRCm39) |
E786G |
possibly damaging |
Het |
| Grk4 |
T |
C |
5: 34,888,882 (GRCm39) |
V342A |
probably benign |
Het |
| Hhipl2 |
A |
T |
1: 183,204,432 (GRCm39) |
Y135F |
possibly damaging |
Het |
| Insig1 |
C |
T |
5: 28,276,706 (GRCm39) |
R91W |
probably damaging |
Het |
| Kcnf1 |
C |
G |
12: 17,225,733 (GRCm39) |
D163H |
probably benign |
Het |
| Kif11 |
A |
T |
19: 37,375,648 (GRCm39) |
K190* |
probably null |
Het |
| Ldb2 |
T |
G |
5: 44,630,814 (GRCm39) |
E309A |
probably damaging |
Het |
| Lipo4 |
T |
G |
19: 33,490,073 (GRCm39) |
D143A |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 132,979,784 (GRCm39) |
I1261S |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,468,446 (GRCm39) |
V27I |
possibly damaging |
Het |
| Ndufaf2 |
C |
T |
13: 108,228,107 (GRCm39) |
V60I |
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,675,774 (GRCm39) |
F48L |
probably benign |
Het |
| Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
| Or2w4 |
A |
C |
13: 21,795,934 (GRCm39) |
F68L |
probably benign |
Het |
| Or5w11 |
T |
A |
2: 87,459,321 (GRCm39) |
N171K |
probably benign |
Het |
| Pcdhb21 |
A |
T |
18: 37,648,532 (GRCm39) |
N554Y |
probably damaging |
Het |
| Pcx |
A |
T |
19: 4,653,187 (GRCm39) |
D284V |
possibly damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,285,937 (GRCm39) |
S203P |
probably damaging |
Het |
| Pdlim3 |
A |
T |
8: 46,349,896 (GRCm39) |
I69F |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,152,898 (GRCm39) |
V598A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,589,304 (GRCm39) |
I509V |
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,488,647 (GRCm39) |
T319N |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,293,664 (GRCm39) |
D380G |
probably benign |
Het |
| Ralgapa1 |
T |
G |
12: 55,788,321 (GRCm39) |
R587S |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,315,158 (GRCm39) |
R1850L |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,947,042 (GRCm39) |
T1132K |
probably benign |
Het |
| Stard7 |
T |
A |
2: 127,137,406 (GRCm39) |
N285K |
possibly damaging |
Het |
| Tcp11l2 |
C |
T |
10: 84,449,351 (GRCm39) |
R439W |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,428,355 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
T |
14: 51,062,020 (GRCm39) |
L2570Q |
probably null |
Het |
| Tex14 |
A |
T |
11: 87,445,754 (GRCm39) |
D191V |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,328,196 (GRCm39) |
K408R |
probably benign |
Het |
| Tube1 |
A |
G |
10: 39,020,762 (GRCm39) |
D216G |
possibly damaging |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,215,253 (GRCm39) |
H412R |
possibly damaging |
Het |
| Wtip |
T |
C |
7: 33,816,020 (GRCm39) |
E352G |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,340,639 (GRCm39) |
L960* |
probably null |
Het |
| Zc3h11a |
A |
C |
1: 133,552,425 (GRCm39) |
S561A |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,300,442 (GRCm39) |
D2436E |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,238,881 (GRCm39) |
H88R |
probably benign |
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 |
|
|
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'- AAGTCACTGGCCCCAGGATAGAAG -3'
(R):5'- GAGGTGGACACAAAACCTATGACCC -3'
Sequencing Primer
(F):5'- GGTTGAAAACATTTATTCAACAGGG -3'
(R):5'- TATGACCCGACACCCTGTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation