Incidental Mutation 'R6246:Abca7'
| ID |
505793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca7
|
| Ensembl Gene |
ENSMUSG00000035722 |
| Gene Name |
ATP-binding cassette, sub-family A member 7 |
| Synonyms |
Abc51 |
| MMRRC Submission |
044436-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79832328-79851406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79850999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 2110
(V2110E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043311]
[ENSMUST00000043866]
[ENSMUST00000099501]
[ENSMUST00000105373]
[ENSMUST00000132517]
[ENSMUST00000171637]
|
| AlphaFold |
Q91V24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043311
|
| SMART Domains |
Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
153 |
N/A |
INTRINSIC |
|
FCH
|
157 |
244 |
4.14e-17 |
SMART |
|
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
536 |
N/A |
INTRINSIC |
|
C1
|
582 |
628 |
3.15e-8 |
SMART |
|
RhoGAP
|
653 |
852 |
2.73e-73 |
SMART |
|
low complexity region
|
856 |
869 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
876 |
999 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043866
AA Change: V2102E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: V2102E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
42 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
515 |
747 |
1.1e-17 |
PFAM |
|
AAA
|
830 |
1011 |
4.97e-12 |
SMART |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1241 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1299 |
1309 |
N/A |
INTRINSIC |
|
low complexity region
|
1374 |
1390 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1427 |
1764 |
9e-43 |
PFAM |
|
AAA
|
1833 |
2018 |
7.2e-9 |
SMART |
|
low complexity region
|
2120 |
2135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099501
|
| SMART Domains |
Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
FCH
|
273 |
360 |
4.14e-17 |
SMART |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
652 |
N/A |
INTRINSIC |
|
C1
|
698 |
744 |
3.15e-8 |
SMART |
|
RhoGAP
|
769 |
968 |
2.73e-73 |
SMART |
|
low complexity region
|
972 |
985 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
992 |
1115 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105373
|
| SMART Domains |
Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
269 |
280 |
N/A |
INTRINSIC |
|
FCH
|
284 |
371 |
4.14e-17 |
SMART |
|
low complexity region
|
382 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
663 |
N/A |
INTRINSIC |
|
C1
|
709 |
755 |
3.15e-8 |
SMART |
|
RhoGAP
|
780 |
979 |
2.73e-73 |
SMART |
|
low complexity region
|
983 |
996 |
N/A |
INTRINSIC |
|
Blast:RhoGAP
|
1003 |
1126 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132517
AA Change: V2102E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: V2102E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
42 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
515 |
747 |
1.1e-17 |
PFAM |
|
AAA
|
830 |
1011 |
4.97e-12 |
SMART |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1241 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1299 |
1309 |
N/A |
INTRINSIC |
|
low complexity region
|
1374 |
1390 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1427 |
1764 |
9e-43 |
PFAM |
|
AAA
|
1833 |
2018 |
7.2e-9 |
SMART |
|
low complexity region
|
2120 |
2135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140974
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171637
AA Change: V2110E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: V2110E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
42 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
517 |
747 |
2.8e-19 |
PFAM |
|
AAA
|
830 |
1011 |
4.97e-12 |
SMART |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1249 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1307 |
1317 |
N/A |
INTRINSIC |
|
low complexity region
|
1382 |
1398 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1426 |
1772 |
3.9e-47 |
PFAM |
|
AAA
|
1841 |
2026 |
7.2e-9 |
SMART |
|
low complexity region
|
2128 |
2143 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4021 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (78/78) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is widely expressed with highest detection in spleen and hematopoietic tissues. Defects in this gene cause an increase in amyloid-beta deposits in a mouse model of Alzheimer's disease, and a related human protein is thought to play a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
A |
11: 84,206,796 (GRCm39) |
T1552K |
probably benign |
Het |
| Aknad1 |
A |
G |
3: 108,659,148 (GRCm39) |
D54G |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,187,462 (GRCm39) |
T435A |
possibly damaging |
Het |
| Azgp1 |
A |
G |
5: 137,983,475 (GRCm39) |
D50G |
possibly damaging |
Het |
| Bbx |
A |
G |
16: 50,045,023 (GRCm39) |
S513P |
probably benign |
Het |
| Ccdc85a |
C |
T |
11: 28,526,897 (GRCm39) |
S209N |
probably damaging |
Het |
| Cdca2 |
T |
A |
14: 67,915,277 (GRCm39) |
R661* |
probably null |
Het |
| Cdhr2 |
T |
C |
13: 54,867,523 (GRCm39) |
V451A |
probably damaging |
Het |
| Cenpt |
C |
T |
8: 106,575,891 (GRCm39) |
G152S |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,045 (GRCm39) |
T2A |
probably damaging |
Het |
| Chst14 |
G |
A |
2: 118,757,482 (GRCm39) |
C117Y |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,971,067 (GRCm39) |
T266M |
probably damaging |
Het |
| Clec12a |
A |
T |
6: 129,330,733 (GRCm39) |
N105I |
possibly damaging |
Het |
| Cmah |
G |
A |
13: 24,650,773 (GRCm39) |
V525M |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,239,498 (GRCm39) |
L1233H |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,426,550 (GRCm39) |
L572P |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,816,657 (GRCm39) |
L1365P |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlg1 |
G |
A |
16: 31,484,468 (GRCm39) |
S32N |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,508,453 (GRCm39) |
I1877T |
probably benign |
Het |
| Duox1 |
G |
T |
2: 122,157,655 (GRCm39) |
G594C |
probably damaging |
Het |
| Eci2 |
T |
C |
13: 35,174,181 (GRCm39) |
N127D |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,811,365 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,945,870 (GRCm39) |
S1588P |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,866,902 (GRCm39) |
I1489F |
probably damaging |
Het |
| Flrt3 |
A |
G |
2: 140,501,721 (GRCm39) |
Y636H |
probably damaging |
Het |
| Frmd5 |
T |
A |
2: 121,381,529 (GRCm39) |
H62L |
possibly damaging |
Het |
| Gm6309 |
A |
T |
5: 146,107,050 (GRCm39) |
Y99N |
probably damaging |
Het |
| Gm8225 |
T |
C |
17: 26,762,652 (GRCm39) |
V281A |
probably benign |
Het |
| Grep1 |
C |
A |
17: 23,929,465 (GRCm39) |
G315* |
probably null |
Het |
| Grsf1 |
A |
G |
5: 88,810,451 (GRCm39) |
L353P |
possibly damaging |
Het |
| Gtf2a1l |
A |
G |
17: 88,978,975 (GRCm39) |
R58G |
probably benign |
Het |
| Guf1 |
G |
A |
5: 69,715,898 (GRCm39) |
G113R |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,892,212 (GRCm39) |
F51I |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,943,801 (GRCm39) |
S250P |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,533,631 (GRCm39) |
M509K |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,175,577 (GRCm39) |
V595A |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,972,546 (GRCm39) |
T460A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,944,657 (GRCm39) |
K459N |
probably damaging |
Het |
| Kdm5a |
G |
A |
6: 120,408,871 (GRCm39) |
G1518E |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,324 (GRCm39) |
D289G |
possibly damaging |
Het |
| Kif14 |
C |
T |
1: 136,404,162 (GRCm39) |
Q29* |
probably null |
Het |
| Krt72 |
T |
C |
15: 101,689,372 (GRCm39) |
K320R |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,970,870 (GRCm39) |
L71P |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,156,136 (GRCm39) |
D1037V |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,713,058 (GRCm39) |
T15A |
unknown |
Het |
| Mia3 |
G |
T |
1: 183,126,720 (GRCm39) |
T7N |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,488,363 (GRCm39) |
|
probably null |
Het |
| Mup9 |
T |
A |
4: 60,375,809 (GRCm39) |
Y29F |
probably damaging |
Het |
| Nisch |
T |
C |
14: 30,894,516 (GRCm39) |
D1105G |
probably damaging |
Het |
| Odad1 |
A |
G |
7: 45,585,788 (GRCm39) |
I116V |
probably damaging |
Het |
| Oip5 |
T |
C |
2: 119,446,101 (GRCm39) |
T136A |
probably benign |
Het |
| Or2a52 |
G |
A |
6: 43,144,436 (GRCm39) |
|
probably null |
Het |
| Osbpl10 |
C |
A |
9: 115,055,842 (GRCm39) |
N532K |
probably benign |
Het |
| P2ry12 |
C |
T |
3: 59,124,950 (GRCm39) |
V242I |
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,877,137 (GRCm39) |
C26S |
probably damaging |
Het |
| Pgk2 |
A |
T |
17: 40,518,315 (GRCm39) |
I371K |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,704,495 (GRCm39) |
V238A |
probably damaging |
Het |
| Pla2g4a |
G |
A |
1: 149,748,338 (GRCm39) |
T282I |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 175,791,475 (GRCm39) |
C448* |
probably null |
Het |
| Plk1 |
T |
A |
7: 121,768,659 (GRCm39) |
I553N |
probably damaging |
Het |
| Ppp1r13l |
T |
A |
7: 19,103,783 (GRCm39) |
I88K |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
| Septin7 |
A |
G |
9: 25,218,817 (GRCm39) |
E428G |
probably benign |
Het |
| Serpina3j |
G |
A |
12: 104,283,706 (GRCm39) |
G268D |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,460,289 (GRCm39) |
D555V |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,962,980 (GRCm39) |
I376F |
probably benign |
Het |
| Spag6 |
G |
A |
2: 18,703,906 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,289,204 (GRCm39) |
I454V |
probably benign |
Het |
| Tlcd3b |
T |
A |
7: 126,426,668 (GRCm39) |
F30L |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,873,827 (GRCm39) |
R557H |
probably damaging |
Het |
| Traf5 |
C |
T |
1: 191,754,853 (GRCm39) |
E28K |
probably damaging |
Het |
| Trav23 |
G |
A |
14: 54,214,885 (GRCm39) |
E33K |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,801 (GRCm39) |
S453P |
probably damaging |
Het |
| Tssk1 |
A |
G |
16: 17,713,303 (GRCm39) |
T363A |
probably benign |
Het |
| Txnrd3 |
A |
G |
6: 89,628,523 (GRCm39) |
N88S |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,216,246 (GRCm39) |
S182G |
probably benign |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,503 (GRCm39) |
R284S |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,478 (GRCm39) |
T59A |
possibly damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,957,796 (GRCm39) |
S756T |
possibly damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Abca7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Abca7
|
APN |
10 |
79,847,131 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01074:Abca7
|
APN |
10 |
79,849,726 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01313:Abca7
|
APN |
10 |
79,838,957 (GRCm39) |
splice site |
probably benign |
|
|
IGL01372:Abca7
|
APN |
10 |
79,842,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01387:Abca7
|
APN |
10 |
79,835,596 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01468:Abca7
|
APN |
10 |
79,839,711 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01648:Abca7
|
APN |
10 |
79,846,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Abca7
|
APN |
10 |
79,849,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01977:Abca7
|
APN |
10 |
79,841,986 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01982:Abca7
|
APN |
10 |
79,838,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02115:Abca7
|
APN |
10 |
79,833,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Abca7
|
APN |
10 |
79,844,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02721:Abca7
|
APN |
10 |
79,849,469 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02812:Abca7
|
APN |
10 |
79,841,881 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02823:Abca7
|
APN |
10 |
79,844,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02827:Abca7
|
APN |
10 |
79,845,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Abca7
|
APN |
10 |
79,837,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02952:Abca7
|
APN |
10 |
79,843,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Abca7
|
UTSW |
10 |
79,838,655 (GRCm39) |
splice site |
probably benign |
|
|
R0528:Abca7
|
UTSW |
10 |
79,838,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Abca7
|
UTSW |
10 |
79,843,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0584:Abca7
|
UTSW |
10 |
79,847,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Abca7
|
UTSW |
10 |
79,837,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Abca7
|
UTSW |
10 |
79,849,577 (GRCm39) |
nonsense |
probably null |
|
|
R1520:Abca7
|
UTSW |
10 |
79,844,664 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1536:Abca7
|
UTSW |
10 |
79,850,064 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1619:Abca7
|
UTSW |
10 |
79,844,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Abca7
|
UTSW |
10 |
79,844,832 (GRCm39) |
missense |
probably benign |
|
|
R1752:Abca7
|
UTSW |
10 |
79,842,468 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1762:Abca7
|
UTSW |
10 |
79,835,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Abca7
|
UTSW |
10 |
79,844,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Abca7
|
UTSW |
10 |
79,840,874 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1911:Abca7
|
UTSW |
10 |
79,842,468 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2032:Abca7
|
UTSW |
10 |
79,844,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2188:Abca7
|
UTSW |
10 |
79,838,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Abca7
|
UTSW |
10 |
79,844,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2974:Abca7
|
UTSW |
10 |
79,844,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3055:Abca7
|
UTSW |
10 |
79,835,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Abca7
|
UTSW |
10 |
79,838,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Abca7
|
UTSW |
10 |
79,842,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Abca7
|
UTSW |
10 |
79,842,402 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4588:Abca7
|
UTSW |
10 |
79,833,701 (GRCm39) |
splice site |
probably null |
|
|
R4628:Abca7
|
UTSW |
10 |
79,851,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4641:Abca7
|
UTSW |
10 |
79,841,615 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4888:Abca7
|
UTSW |
10 |
79,838,562 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4911:Abca7
|
UTSW |
10 |
79,848,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4979:Abca7
|
UTSW |
10 |
79,840,617 (GRCm39) |
nonsense |
probably null |
|
|
R4997:Abca7
|
UTSW |
10 |
79,843,154 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5147:Abca7
|
UTSW |
10 |
79,851,149 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5176:Abca7
|
UTSW |
10 |
79,834,123 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5190:Abca7
|
UTSW |
10 |
79,835,427 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5358:Abca7
|
UTSW |
10 |
79,849,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5409:Abca7
|
UTSW |
10 |
79,850,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5705:Abca7
|
UTSW |
10 |
79,851,276 (GRCm39) |
missense |
probably benign |
|
|
R6256:Abca7
|
UTSW |
10 |
79,838,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Abca7
|
UTSW |
10 |
79,844,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6275:Abca7
|
UTSW |
10 |
79,833,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Abca7
|
UTSW |
10 |
79,841,992 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6284:Abca7
|
UTSW |
10 |
79,840,244 (GRCm39) |
missense |
probably benign |
|
|
R6307:Abca7
|
UTSW |
10 |
79,843,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6451:Abca7
|
UTSW |
10 |
79,842,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6456:Abca7
|
UTSW |
10 |
79,850,984 (GRCm39) |
missense |
probably null |
0.69 |
|
R6460:Abca7
|
UTSW |
10 |
79,844,862 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6560:Abca7
|
UTSW |
10 |
79,843,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6565:Abca7
|
UTSW |
10 |
79,847,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6644:Abca7
|
UTSW |
10 |
79,844,598 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6814:Abca7
|
UTSW |
10 |
79,838,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Abca7
|
UTSW |
10 |
79,845,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Abca7
|
UTSW |
10 |
79,850,822 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7493:Abca7
|
UTSW |
10 |
79,837,896 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7535:Abca7
|
UTSW |
10 |
79,837,463 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7602:Abca7
|
UTSW |
10 |
79,833,846 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7607:Abca7
|
UTSW |
10 |
79,847,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7647:Abca7
|
UTSW |
10 |
79,836,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7821:Abca7
|
UTSW |
10 |
79,838,424 (GRCm39) |
small deletion |
probably benign |
|
|
R7863:Abca7
|
UTSW |
10 |
79,844,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Abca7
|
UTSW |
10 |
79,840,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Abca7
|
UTSW |
10 |
79,840,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8114:Abca7
|
UTSW |
10 |
79,844,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Abca7
|
UTSW |
10 |
79,842,360 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8439:Abca7
|
UTSW |
10 |
79,841,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8456:Abca7
|
UTSW |
10 |
79,842,360 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8830:Abca7
|
UTSW |
10 |
79,844,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Abca7
|
UTSW |
10 |
79,841,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Abca7
|
UTSW |
10 |
79,849,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9116:Abca7
|
UTSW |
10 |
79,838,973 (GRCm39) |
missense |
|
|
|
R9128:Abca7
|
UTSW |
10 |
79,838,352 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9141:Abca7
|
UTSW |
10 |
79,851,264 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9184:Abca7
|
UTSW |
10 |
79,838,690 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9246:Abca7
|
UTSW |
10 |
79,838,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Abca7
|
UTSW |
10 |
79,833,471 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9426:Abca7
|
UTSW |
10 |
79,851,264 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9490:Abca7
|
UTSW |
10 |
79,834,601 (GRCm39) |
missense |
probably benign |
|
|
R9561:Abca7
|
UTSW |
10 |
79,837,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Abca7
|
UTSW |
10 |
79,838,563 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1176:Abca7
|
UTSW |
10 |
79,842,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Abca7
|
UTSW |
10 |
79,835,266 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACACTGACTCTAAGGGTCC -3'
(R):5'- TGACACGTTTGGGATGCTGC -3'
Sequencing Primer
(F):5'- TGACTCTAAGGGTCCCACCG -3'
(R):5'- GGAAACCTCCTCTTCTTCAGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation