Incidental Mutation 'R6300:Tm7sf2'
| ID |
509070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf2
|
| Ensembl Gene |
ENSMUSG00000024799 |
| Gene Name |
transmembrane 7 superfamily member 2 |
| Synonyms |
ANG1, 3110041O18Rik |
| MMRRC Submission |
044409-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6300 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6112851-6117880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6117230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 58
(W58R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025711]
[ENSMUST00000025713]
[ENSMUST00000113543]
[ENSMUST00000159084]
[ENSMUST00000159832]
[ENSMUST00000160028]
[ENSMUST00000161090]
[ENSMUST00000161528]
[ENSMUST00000161718]
[ENSMUST00000160233]
[ENSMUST00000162575]
[ENSMUST00000162810]
[ENSMUST00000162726]
|
| 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: W58R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799
AA Change: W58R
| 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 damaging
Transcript: ENSMUST00000113543
AA Change: W58R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799
AA Change: W58R
| 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: W58R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799
AA Change: W58R
| 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 |
noncoding transcript
Transcript: ENSMUST00000159211
|
| 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 |
unknown
Transcript: ENSMUST00000160028
AA Change: W50R
|
| SMART Domains |
Protein: ENSMUSP00000124847
Gene: ENSMUSG00000024799
AA Change: W50R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161090
AA Change: W58R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799
AA Change: W58R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161528
AA Change: W58R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123989
Gene: ENSMUSG00000024799
AA Change: W58R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ERG4_ERG24
|
7 |
109 |
5.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162549
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000159836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160417
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000160519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160324
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162575
AA Change: W58R
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799
AA Change: W58R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162721
|
| 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 |
|
| Meta Mutation Damage Score |
0.8816 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
99% (72/73) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
G |
7: 40,642,885 (GRCm39) |
T185A |
possibly damaging |
Het |
| 4932414N04Rik |
A |
G |
2: 68,561,453 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Adamtsl1 |
G |
A |
4: 86,166,254 (GRCm39) |
G395S |
probably damaging |
Het |
| Amn |
T |
C |
12: 111,240,623 (GRCm39) |
L85P |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,602,840 (GRCm39) |
K56E |
probably damaging |
Het |
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Apip |
C |
T |
2: 102,917,498 (GRCm39) |
R66C |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,057,769 (GRCm39) |
R2084* |
probably null |
Het |
| Apol6 |
A |
T |
15: 76,935,471 (GRCm39) |
I247L |
probably benign |
Het |
| Arfgap2 |
A |
G |
2: 91,097,540 (GRCm39) |
Q112R |
probably benign |
Het |
| Armh1 |
A |
G |
4: 117,088,979 (GRCm39) |
Y139H |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,357,577 (GRCm39) |
V122A |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,723,444 (GRCm39) |
Y258C |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,301,678 (GRCm39) |
T1685S |
probably benign |
Het |
| Cct2 |
C |
T |
10: 116,892,064 (GRCm39) |
G328D |
probably damaging |
Het |
| Cd163 |
T |
A |
6: 124,294,950 (GRCm39) |
C671* |
probably null |
Het |
| Cers5 |
G |
T |
15: 99,670,100 (GRCm39) |
A54E |
probably damaging |
Het |
| Ctdp1 |
T |
A |
18: 80,502,455 (GRCm39) |
M152L |
probably benign |
Het |
| Cul3 |
A |
G |
1: 80,264,669 (GRCm39) |
V211A |
probably damaging |
Het |
| Defb36 |
T |
A |
2: 152,454,418 (GRCm39) |
W26R |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,925,136 (GRCm39) |
E3899G |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,042,798 (GRCm39) |
I3208N |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,365,046 (GRCm39) |
F3609S |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,168,181 (GRCm39) |
L1102R |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,772,170 (GRCm39) |
S500P |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,166 (GRCm39) |
T440A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,246 (GRCm39) |
T776A |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,891,350 (GRCm39) |
|
probably null |
Het |
| Hoxd3 |
A |
G |
2: 74,574,420 (GRCm39) |
Y22C |
probably damaging |
Het |
| Hspe1 |
T |
A |
1: 55,129,860 (GRCm39) |
|
probably null |
Het |
| Il6ra |
A |
G |
3: 89,794,436 (GRCm39) |
V175A |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,628 (GRCm39) |
Q1661R |
unknown |
Het |
| Klhl18 |
T |
A |
9: 110,265,130 (GRCm39) |
N362I |
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,273,063 (GRCm39) |
E692G |
probably damaging |
Het |
| Mars1 |
G |
A |
10: 127,132,429 (GRCm39) |
T856M |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,619,769 (GRCm39) |
T285I |
possibly damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,119,614 (GRCm39) |
S198P |
probably benign |
Het |
| Nek5 |
T |
A |
8: 22,597,737 (GRCm39) |
M281L |
probably benign |
Het |
| Or2y15 |
T |
A |
11: 49,351,039 (GRCm39) |
C178S |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,636 (GRCm39) |
H236L |
probably benign |
Het |
| Or52e7 |
G |
A |
7: 104,684,878 (GRCm39) |
V158M |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pcdhgb5 |
T |
A |
18: 37,865,752 (GRCm39) |
F516I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,646,713 (GRCm39) |
N167K |
possibly damaging |
Het |
| Pepd |
G |
A |
7: 34,668,968 (GRCm39) |
R196H |
probably damaging |
Het |
| Pla2g4e |
A |
T |
2: 120,013,219 (GRCm39) |
M367K |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,746,085 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,101,839 (GRCm39) |
Y3364H |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,172,383 (GRCm39) |
S369T |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,870,226 (GRCm39) |
H950R |
possibly damaging |
Het |
| Serpina3k |
A |
T |
12: 104,306,981 (GRCm39) |
N71I |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,367 (GRCm39) |
V788A |
possibly damaging |
Het |
| Sfrp4 |
G |
A |
13: 19,808,023 (GRCm39) |
A141T |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,052,596 (GRCm39) |
W458R |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,084,344 (GRCm39) |
T78M |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,752 (GRCm39) |
I356F |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,935,224 (GRCm39) |
V771A |
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,268,563 (GRCm39) |
S33P |
probably benign |
Het |
| Tcte1 |
T |
C |
17: 45,844,215 (GRCm39) |
S64P |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,471,103 (GRCm39) |
S505* |
probably null |
Het |
| Tjp3 |
T |
A |
10: 81,116,951 (GRCm39) |
R193* |
probably null |
Het |
| Top3a |
T |
C |
11: 60,640,234 (GRCm39) |
D488G |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,790,905 (GRCm39) |
S884P |
possibly damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,898 (GRCm39) |
L342P |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,377,220 (GRCm39) |
Y2612F |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,381,623 (GRCm39) |
N3S |
probably damaging |
Het |
| Zfp382 |
G |
A |
7: 29,831,054 (GRCm39) |
|
probably null |
Het |
| Zfp672 |
A |
T |
11: 58,208,094 (GRCm39) |
C76S |
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 |
|
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'- CATTAATAGGGTAGCGCAGGCG -3'
(R):5'- CTTGAGAGAGCTCTTGGGAG -3'
Sequencing Primer
(F):5'- AGGCGACTCTTGTCCTTCAG -3'
(R):5'- GAGCAGTCACGCTACACAGTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation