Incidental Mutation 'R6065:Tm7sf2'
| ID |
484027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf2
|
| Ensembl Gene |
ENSMUSG00000024799 |
| Gene Name |
transmembrane 7 superfamily member 2 |
| Synonyms |
ANG1, 3110041O18Rik |
| MMRRC Submission |
044229-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6113416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 345
(M345T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000043074]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000161718]
[ENSMUST00000161528]
[ENSMUST00000162810]
[ENSMUST00000161090]
[ENSMUST00000162726]
[ENSMUST00000162575]
[ENSMUST00000160028]
[ENSMUST00000179142]
[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 |
possibly damaging
Transcript: ENSMUST00000025713
AA Change: M345T
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
AA Change: M345T
| 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 |
possibly damaging
Transcript: ENSMUST00000113543
AA Change: M345T
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799
AA Change: M345T
| 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 |
possibly damaging
Transcript: ENSMUST00000159084
AA Change: M318T
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
AA Change: M318T
| 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: ENSMUST00000161718
AA Change: M145T
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799
AA Change: M145T
| 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: ENSMUST00000160354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161634
|
| 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: 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: 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: 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: 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: 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: 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
T |
C |
5: 103,990,118 (GRCm39) |
S871P |
probably damaging |
Het |
| Ccdc150 |
T |
C |
1: 54,302,758 (GRCm39) |
I126T |
possibly damaging |
Het |
| Ccdc87 |
A |
T |
19: 4,891,268 (GRCm39) |
M587L |
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,404,628 (GRCm39) |
D2638G |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,230,614 (GRCm39) |
I171F |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,746,164 (GRCm39) |
D3983G |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,036,223 (GRCm39) |
S396P |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,397,246 (GRCm39) |
D18V |
probably damaging |
Het |
| Fcnb |
A |
C |
2: 27,969,922 (GRCm39) |
C106G |
probably damaging |
Het |
| Firrm |
A |
T |
1: 163,786,957 (GRCm39) |
L704Q |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,815,257 (GRCm39) |
M88T |
probably damaging |
Het |
| Gm3453 |
T |
C |
14: 5,978,233 (GRCm38) |
T57A |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,579,771 (GRCm39) |
D164G |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,646,081 (GRCm39) |
V706I |
probably benign |
Het |
| Kcnj12 |
C |
T |
11: 60,960,703 (GRCm39) |
L334F |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,602,985 (GRCm39) |
Y1057H |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,399,013 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
G |
5: 112,840,647 (GRCm39) |
L2382P |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,405,370 (GRCm39) |
N680I |
probably damaging |
Het |
| Nop2 |
A |
G |
6: 125,121,528 (GRCm39) |
H770R |
probably benign |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,729 (GRCm39) |
T377A |
possibly damaging |
Het |
| Prl7b1 |
T |
C |
13: 27,788,529 (GRCm39) |
K109E |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,351,166 (GRCm39) |
T553I |
probably damaging |
Het |
| Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,804,709 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
T |
C |
8: 95,349,615 (GRCm39) |
M1T |
probably null |
Het |
| Sec13 |
G |
T |
6: 113,707,793 (GRCm39) |
P176T |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc4a7 |
C |
A |
14: 14,739,836 (GRCm38) |
T236K |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,675,295 (GRCm39) |
N382S |
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,148,549 (GRCm39) |
C1678G |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,600,220 (GRCm39) |
S188P |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,379,056 (GRCm39) |
N233S |
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 |
|
|
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 |
|
|
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'- AGGCACTAGCACCCATTTC -3'
(R):5'- GGTTACTACATCTTCCGAGGGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation