Incidental Mutation 'PIT4791001:Tm7sf2'
| ID |
556992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf2
|
| Ensembl Gene |
ENSMUSG00000024799 |
| Gene Name |
transmembrane 7 superfamily member 2 |
| Synonyms |
ANG1, 3110041O18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4791001 (G1)
|
| Quality Score |
196.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6113635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 299
(I299V)
|
| 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 benign
Transcript: ENSMUST00000025713
AA Change: I299V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
AA Change: I299V
| 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 benign
Transcript: ENSMUST00000113543
AA Change: I299V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799
AA Change: I299V
| 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
|
| 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 benign
Transcript: ENSMUST00000161718
AA Change: I99V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799
AA Change: I99V
| 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: 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: 93.5%
- 3x: 90.8%
- 10x: 83.3%
- 20x: 68.6%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
G |
A |
15: 72,993,089 (GRCm39) |
T472I |
possibly damaging |
Het |
| Ambp |
T |
A |
4: 63,072,298 (GRCm39) |
|
probably benign |
Het |
| As3mt |
T |
A |
19: 46,708,788 (GRCm39) |
F261I |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,458,579 (GRCm39) |
L561P |
probably damaging |
Het |
| Cnr2 |
A |
G |
4: 135,644,263 (GRCm39) |
T114A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,178 (GRCm39) |
Y1885H |
probably damaging |
Het |
| Dcn |
A |
G |
10: 97,343,604 (GRCm39) |
N188S |
probably benign |
Het |
| Dennd6b |
A |
C |
15: 89,070,955 (GRCm39) |
|
probably null |
Het |
| Dstyk |
A |
G |
1: 132,377,665 (GRCm39) |
T424A |
probably benign |
Het |
| Gabrr3 |
A |
G |
16: 59,250,298 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
A |
G |
3: 108,025,621 (GRCm39) |
S153P |
probably benign |
Het |
| Igkv2-112 |
T |
A |
6: 68,197,599 (GRCm39) |
S90R |
probably damaging |
Het |
| Lxn |
T |
C |
3: 67,365,979 (GRCm39) |
D173G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,342,307 (GRCm39) |
I1600N |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,971,406 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
T |
C |
17: 90,762,931 (GRCm39) |
|
probably benign |
Het |
| Oaz3 |
A |
G |
3: 94,340,852 (GRCm39) |
Y232H |
unknown |
Het |
| Or5aq1b |
A |
T |
2: 86,902,046 (GRCm39) |
M144K |
possibly damaging |
Het |
| Pkdcc |
C |
T |
17: 83,527,577 (GRCm39) |
R252* |
probably null |
Het |
| Plcl1 |
A |
G |
1: 55,741,090 (GRCm39) |
N907S |
probably benign |
Het |
| Plscr1 |
T |
A |
9: 92,145,150 (GRCm39) |
Y53* |
probably null |
Het |
| Pm20d2 |
T |
C |
4: 33,174,756 (GRCm39) |
T377A |
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,722,875 (GRCm39) |
V321D |
probably damaging |
Het |
| Ranbp3l |
T |
C |
15: 9,060,829 (GRCm39) |
I366T |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,087,660 (GRCm39) |
E737G |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,853,975 (GRCm39) |
F326S |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,626 (GRCm39) |
E1878G |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,552,072 (GRCm39) |
V872A |
possibly damaging |
Het |
| Sugp2 |
C |
T |
8: 70,713,195 (GRCm39) |
Q1054* |
probably null |
Het |
| Syne3 |
T |
C |
12: 104,929,438 (GRCm39) |
T261A |
probably benign |
Het |
| Tgif2 |
T |
C |
2: 156,695,232 (GRCm39) |
S126P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,319,386 (GRCm39) |
V457A |
possibly damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,892,902 (GRCm39) |
E943G |
probably benign |
Het |
| Tpd52l2 |
T |
A |
2: 181,141,681 (GRCm39) |
F21L |
probably benign |
Het |
| Tpm2 |
A |
G |
4: 43,519,263 (GRCm39) |
L176P |
probably benign |
Het |
| Trim34a |
C |
A |
7: 103,909,691 (GRCm39) |
T293K |
probably benign |
Het |
| Ttc23 |
A |
T |
7: 67,312,135 (GRCm39) |
D14V |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,706 (GRCm39) |
E108G |
probably benign |
Het |
| Txndc15 |
C |
T |
13: 55,869,507 (GRCm39) |
A220V |
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,266 (GRCm39) |
Q23R |
probably damaging |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,028 (GRCm39) |
V279A |
probably damaging |
Het |
| Vmo1 |
A |
C |
11: 70,404,661 (GRCm39) |
C113W |
probably damaging |
Het |
| Zfp984 |
A |
G |
4: 147,840,603 (GRCm39) |
S83P |
probably benign |
Het |
| Zik1 |
A |
C |
7: 10,226,256 (GRCm39) |
L37R |
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 |
|
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 |
|
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'- AGTCGGGATGGTCTCAAGAC -3'
(R):5'- CTGCCTCCTTAAGGGTCAGTAG -3'
Sequencing Primer
(F):5'- CCTAGAAATACAGCTAATGAAACGG -3'
(R):5'- CAGTAGGAGGGCCCTTCATTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation