Incidental Mutation 'R5590:Abca16'
| ID |
437439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca16
|
| Ensembl Gene |
ENSMUSG00000051900 |
| Gene Name |
ATP-binding cassette, sub-family A (ABC1), member 16 |
| Synonyms |
|
| MMRRC Submission |
043143-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5590 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120409647-120544813 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120544772 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1671
(T1671M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056042]
[ENSMUST00000120490]
|
| AlphaFold |
E9PWJ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056042
AA Change: T1670M
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: T1670M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
26 |
455 |
2.7e-23 |
PFAM |
|
AAA
|
537 |
720 |
2.01e-7 |
SMART |
|
Pfam:ABC2_membrane_3
|
898 |
1287 |
4.6e-25 |
PFAM |
|
low complexity region
|
1325 |
1336 |
N/A |
INTRINSIC |
|
low complexity region
|
1342 |
1353 |
N/A |
INTRINSIC |
|
AAA
|
1378 |
1563 |
4.23e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120490
AA Change: T1671M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: T1671M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
25 |
456 |
2.4e-22 |
PFAM |
|
AAA
|
538 |
721 |
2.01e-7 |
SMART |
|
Pfam:ABC2_membrane_3
|
899 |
1288 |
1.1e-27 |
PFAM |
|
low complexity region
|
1326 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1343 |
1354 |
N/A |
INTRINSIC |
|
AAA
|
1379 |
1564 |
4.23e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (108/108) |
| Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
T |
G |
4: 124,610,487 (GRCm38) |
M91L |
unknown |
Het |
| A2m |
C |
T |
6: 121,676,932 (GRCm38) |
T1408M |
probably damaging |
Het |
| Adamts8 |
A |
T |
9: 30,951,336 (GRCm38) |
N279I |
probably damaging |
Het |
| Adgre1 |
T |
A |
17: 57,445,034 (GRCm38) |
I594N |
probably damaging |
Het |
| Aldh4a1 |
T |
A |
4: 139,642,104 (GRCm38) |
V322E |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,373,380 (GRCm38) |
Y327F |
probably benign |
Het |
| C4b |
T |
C |
17: 34,740,335 (GRCm38) |
T422A |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,687,182 (GRCm38) |
S668T |
probably damaging |
Het |
| Cchcr1 |
A |
T |
17: 35,526,680 (GRCm38) |
E426D |
probably damaging |
Het |
| Ccr3 |
G |
A |
9: 124,028,793 (GRCm38) |
G55D |
probably damaging |
Het |
| Cdipt |
T |
A |
7: 126,979,532 (GRCm38) |
|
probably null |
Het |
| Cep19 |
A |
G |
16: 32,103,898 (GRCm38) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,201,812 (GRCm38) |
M56L |
probably benign |
Het |
| Cyp3a11 |
C |
A |
5: 145,865,977 (GRCm38) |
M235I |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,277 (GRCm38) |
D87E |
possibly damaging |
Het |
| Ell |
A |
C |
8: 70,539,707 (GRCm38) |
M1L |
possibly damaging |
Het |
| Esyt3 |
T |
C |
9: 99,358,413 (GRCm38) |
|
probably benign |
Het |
| Ets1 |
T |
C |
9: 32,728,798 (GRCm38) |
|
probably benign |
Het |
| Fam222b |
T |
A |
11: 78,155,032 (GRCm38) |
M473K |
probably benign |
Het |
| Fanca |
T |
C |
8: 123,303,963 (GRCm38) |
|
probably benign |
Het |
| Fbrsl1 |
G |
T |
5: 110,381,618 (GRCm38) |
A67D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 37,961,327 (GRCm38) |
P622L |
probably damaging |
Het |
| Gal3st2c |
T |
G |
1: 94,008,301 (GRCm38) |
|
probably null |
Het |
| Gins2 |
T |
G |
8: 120,581,747 (GRCm38) |
H166P |
possibly damaging |
Het |
| Gm10118 |
A |
T |
10: 63,927,066 (GRCm38) |
|
probably benign |
Het |
| Gm9979 |
A |
T |
13: 40,705,813 (GRCm38) |
|
noncoding transcript |
Het |
| Hspbap1 |
A |
G |
16: 35,801,663 (GRCm38) |
Y126C |
probably damaging |
Het |
| Hspd1 |
A |
T |
1: 55,084,769 (GRCm38) |
I64N |
probably damaging |
Het |
| Igkv3-4 |
A |
T |
6: 70,672,283 (GRCm38) |
S89C |
probably damaging |
Het |
| Il10ra |
T |
A |
9: 45,265,626 (GRCm38) |
K134* |
probably null |
Het |
| Il12rb1 |
G |
A |
8: 70,813,767 (GRCm38) |
C252Y |
possibly damaging |
Het |
| Il24 |
A |
T |
1: 130,882,516 (GRCm38) |
V201E |
possibly damaging |
Het |
| Inpp1 |
A |
G |
1: 52,794,661 (GRCm38) |
I92T |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,976,689 (GRCm38) |
D535G |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,715,885 (GRCm38) |
I240F |
probably damaging |
Het |
| Kctd17 |
G |
A |
15: 78,437,302 (GRCm38) |
|
probably benign |
Het |
| Leo1 |
T |
A |
9: 75,457,141 (GRCm38) |
I521N |
possibly damaging |
Het |
| Mdga1 |
A |
G |
17: 29,839,867 (GRCm38) |
L722P |
probably damaging |
Het |
| Met |
G |
T |
6: 17,548,782 (GRCm38) |
V942L |
probably benign |
Het |
| Mfn1 |
A |
T |
3: 32,563,847 (GRCm38) |
T110S |
probably benign |
Het |
| Mrps15 |
T |
C |
4: 126,048,695 (GRCm38) |
I79T |
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,123,355 (GRCm38) |
M4497R |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,879,352 (GRCm38) |
S362T |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,120,048 (GRCm38) |
F1209L |
probably benign |
Het |
| Nab2 |
T |
C |
10: 127,664,657 (GRCm38) |
S189G |
probably damaging |
Het |
| Naxe |
A |
C |
3: 88,056,533 (GRCm38) |
|
probably null |
Het |
| Ncf1 |
A |
G |
5: 134,223,501 (GRCm38) |
V232A |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 50,279,611 (GRCm38) |
Y422C |
probably damaging |
Het |
| Nmnat2 |
G |
T |
1: 153,094,061 (GRCm38) |
G176V |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,454,842 (GRCm38) |
S999P |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,375,255 (GRCm38) |
D323G |
probably benign |
Het |
| Or4d10b |
A |
G |
19: 12,059,278 (GRCm38) |
V158A |
probably benign |
Het |
| Or5h23 |
A |
G |
16: 59,085,997 (GRCm38) |
F162S |
probably benign |
Het |
| Or8b3b |
T |
A |
9: 38,672,965 (GRCm38) |
T160S |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,272,168 (GRCm38) |
S342P |
probably damaging |
Het |
| Pag1 |
A |
T |
3: 9,699,422 (GRCm38) |
Y224N |
probably damaging |
Het |
| Pald1 |
T |
A |
10: 61,343,710 (GRCm38) |
H460L |
probably damaging |
Het |
| Per2 |
G |
A |
1: 91,427,856 (GRCm38) |
Q727* |
probably null |
Het |
| Pex19 |
T |
C |
1: 172,133,212 (GRCm38) |
V134A |
probably benign |
Het |
| Phlpp1 |
A |
T |
1: 106,392,927 (GRCm38) |
I1551F |
possibly damaging |
Het |
| Ppef2 |
A |
T |
5: 92,239,139 (GRCm38) |
V313D |
probably damaging |
Het |
| Prorp |
T |
C |
12: 55,304,472 (GRCm38) |
S189P |
possibly damaging |
Het |
| Pzp |
A |
C |
6: 128,523,796 (GRCm38) |
F153C |
probably damaging |
Het |
| Rasl11a |
A |
G |
5: 146,845,242 (GRCm38) |
H9R |
probably benign |
Het |
| Rfx3 |
A |
T |
19: 27,802,380 (GRCm38) |
|
probably null |
Het |
| Rmnd5b |
A |
T |
11: 51,627,962 (GRCm38) |
I68N |
probably damaging |
Het |
| Senp5 |
T |
A |
16: 31,989,513 (GRCm38) |
S281C |
probably damaging |
Het |
| Sh3rf1 |
G |
A |
8: 61,361,732 (GRCm38) |
E442K |
probably benign |
Het |
| Slc12a3 |
G |
A |
8: 94,345,788 (GRCm38) |
V645M |
probably damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,581,341 (GRCm38) |
F193L |
possibly damaging |
Het |
| Slc35f1 |
A |
T |
10: 53,108,178 (GRCm38) |
T345S |
possibly damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,421,563 (GRCm38) |
R704H |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,175,770 (GRCm38) |
Y89F |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,474,491 (GRCm38) |
E2741G |
probably damaging |
Het |
| Strn4 |
G |
A |
7: 16,833,874 (GRCm38) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,923,306 (GRCm38) |
T1859A |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,525,045 (GRCm38) |
Y3N |
probably damaging |
Het |
| Tdrd9 |
C |
A |
12: 112,051,980 (GRCm38) |
R1278S |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,797,401 (GRCm38) |
A826E |
possibly damaging |
Het |
| Tenm4 |
G |
T |
7: 96,797,400 (GRCm38) |
A826S |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,476,480 (GRCm38) |
|
probably null |
Het |
| Tfec |
A |
G |
6: 16,834,200 (GRCm38) |
L236P |
probably benign |
Het |
| Tjap1 |
A |
G |
17: 46,258,871 (GRCm38) |
S388P |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,124,971 (GRCm38) |
T554A |
possibly damaging |
Het |
| Tmem17 |
G |
A |
11: 22,517,450 (GRCm38) |
V83I |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,876,502 (GRCm38) |
H137Y |
probably damaging |
Het |
| Tomm5 |
T |
C |
4: 45,106,679 (GRCm38) |
|
probably benign |
Het |
| Top3b |
T |
A |
16: 16,891,577 (GRCm38) |
|
probably benign |
Het |
| Tph1 |
T |
C |
7: 46,653,792 (GRCm38) |
H254R |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,351,452 (GRCm38) |
Y487H |
probably damaging |
Het |
| Trappc13 |
T |
A |
13: 104,148,241 (GRCm38) |
D241V |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,782,265 (GRCm38) |
I193V |
probably benign |
Het |
| Tspear |
A |
T |
10: 77,870,365 (GRCm38) |
H323L |
probably benign |
Het |
| Ttc39a |
A |
T |
4: 109,432,987 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Tubg1 |
A |
G |
11: 101,124,032 (GRCm38) |
D200G |
probably damaging |
Het |
| Ugdh |
C |
A |
5: 65,422,874 (GRCm38) |
|
probably benign |
Het |
| Uso1 |
A |
G |
5: 92,180,608 (GRCm38) |
N355D |
probably benign |
Het |
| Vamp4 |
T |
C |
1: 162,592,679 (GRCm38) |
|
probably null |
Het |
| Vmn2r5 |
T |
C |
3: 64,504,076 (GRCm38) |
D357G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 33,961,221 (GRCm38) |
T300A |
probably benign |
Het |
| Wt1 |
A |
T |
2: 105,127,284 (GRCm38) |
H163L |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,514,035 (GRCm38) |
S2207P |
probably benign |
Het |
| Xpo6 |
A |
T |
7: 126,107,078 (GRCm38) |
I30N |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,059,727 (GRCm38) |
I320K |
probably benign |
Het |
|
| Other mutations in Abca16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Abca16
|
APN |
7 |
120,423,759 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL00590:Abca16
|
APN |
7 |
120,423,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01320:Abca16
|
APN |
7 |
120,439,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01322:Abca16
|
APN |
7 |
120,439,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01613:Abca16
|
APN |
7 |
120,541,277 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01774:Abca16
|
APN |
7 |
120,421,801 (GRCm38) |
splice site |
probably benign |
|
|
IGL01774:Abca16
|
APN |
7 |
120,477,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01797:Abca16
|
APN |
7 |
120,514,537 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL02406:Abca16
|
APN |
7 |
120,540,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02437:Abca16
|
APN |
7 |
120,533,729 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02541:Abca16
|
APN |
7 |
120,514,658 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02576:Abca16
|
APN |
7 |
120,433,455 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02578:Abca16
|
APN |
7 |
120,423,956 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03156:Abca16
|
APN |
7 |
120,423,851 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL03381:Abca16
|
APN |
7 |
120,527,818 (GRCm38) |
missense |
probably benign |
0.12 |
|
PIT4802001:Abca16
|
UTSW |
7 |
120,540,128 (GRCm38) |
missense |
probably benign |
0.31 |
|
R0024:Abca16
|
UTSW |
7 |
120,433,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0026:Abca16
|
UTSW |
7 |
120,477,923 (GRCm38) |
splice site |
probably benign |
|
|
R0026:Abca16
|
UTSW |
7 |
120,477,923 (GRCm38) |
splice site |
probably benign |
|
|
R0123:Abca16
|
UTSW |
7 |
120,540,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0134:Abca16
|
UTSW |
7 |
120,540,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0225:Abca16
|
UTSW |
7 |
120,540,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0346:Abca16
|
UTSW |
7 |
120,435,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0355:Abca16
|
UTSW |
7 |
120,423,798 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0358:Abca16
|
UTSW |
7 |
120,544,716 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0525:Abca16
|
UTSW |
7 |
120,465,810 (GRCm38) |
nonsense |
probably null |
|
|
R0617:Abca16
|
UTSW |
7 |
120,433,611 (GRCm38) |
splice site |
probably benign |
|
|
R0625:Abca16
|
UTSW |
7 |
120,435,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0835:Abca16
|
UTSW |
7 |
120,465,784 (GRCm38) |
missense |
probably benign |
0.42 |
|
R1445:Abca16
|
UTSW |
7 |
120,520,033 (GRCm38) |
missense |
probably benign |
0.41 |
|
R1535:Abca16
|
UTSW |
7 |
120,540,705 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1567:Abca16
|
UTSW |
7 |
120,431,129 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1694:Abca16
|
UTSW |
7 |
120,520,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1860:Abca16
|
UTSW |
7 |
120,534,763 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1876:Abca16
|
UTSW |
7 |
120,433,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1913:Abca16
|
UTSW |
7 |
120,541,240 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1940:Abca16
|
UTSW |
7 |
120,433,609 (GRCm38) |
splice site |
probably benign |
|
|
R2042:Abca16
|
UTSW |
7 |
120,544,718 (GRCm38) |
missense |
probably benign |
|
|
R2115:Abca16
|
UTSW |
7 |
120,540,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2122:Abca16
|
UTSW |
7 |
120,519,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2265:Abca16
|
UTSW |
7 |
120,431,160 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2267:Abca16
|
UTSW |
7 |
120,431,160 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2269:Abca16
|
UTSW |
7 |
120,431,160 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2993:Abca16
|
UTSW |
7 |
120,535,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3055:Abca16
|
UTSW |
7 |
120,435,851 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3956:Abca16
|
UTSW |
7 |
120,527,752 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4114:Abca16
|
UTSW |
7 |
120,527,067 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4441:Abca16
|
UTSW |
7 |
120,527,801 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4601:Abca16
|
UTSW |
7 |
120,436,697 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4706:Abca16
|
UTSW |
7 |
120,465,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4807:Abca16
|
UTSW |
7 |
120,540,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4824:Abca16
|
UTSW |
7 |
120,475,479 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4937:Abca16
|
UTSW |
7 |
120,527,086 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5152:Abca16
|
UTSW |
7 |
120,540,623 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5257:Abca16
|
UTSW |
7 |
120,436,769 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5258:Abca16
|
UTSW |
7 |
120,436,769 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5330:Abca16
|
UTSW |
7 |
120,503,377 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5388:Abca16
|
UTSW |
7 |
120,540,746 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5810:Abca16
|
UTSW |
7 |
120,435,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6030:Abca16
|
UTSW |
7 |
120,533,798 (GRCm38) |
missense |
probably benign |
|
|
R6030:Abca16
|
UTSW |
7 |
120,533,798 (GRCm38) |
missense |
probably benign |
|
|
R6161:Abca16
|
UTSW |
7 |
120,540,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6313:Abca16
|
UTSW |
7 |
120,527,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6485:Abca16
|
UTSW |
7 |
120,427,167 (GRCm38) |
nonsense |
probably null |
|
|
R6527:Abca16
|
UTSW |
7 |
120,477,772 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6772:Abca16
|
UTSW |
7 |
120,527,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6885:Abca16
|
UTSW |
7 |
120,520,109 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6899:Abca16
|
UTSW |
7 |
120,527,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6941:Abca16
|
UTSW |
7 |
120,541,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6990:Abca16
|
UTSW |
7 |
120,527,727 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7059:Abca16
|
UTSW |
7 |
120,421,748 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7144:Abca16
|
UTSW |
7 |
120,433,573 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7146:Abca16
|
UTSW |
7 |
120,527,751 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7193:Abca16
|
UTSW |
7 |
120,427,186 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7308:Abca16
|
UTSW |
7 |
120,423,770 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7449:Abca16
|
UTSW |
7 |
120,435,908 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7571:Abca16
|
UTSW |
7 |
120,519,988 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7617:Abca16
|
UTSW |
7 |
120,503,471 (GRCm38) |
nonsense |
probably null |
|
|
R7646:Abca16
|
UTSW |
7 |
120,514,714 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7750:Abca16
|
UTSW |
7 |
120,514,705 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7763:Abca16
|
UTSW |
7 |
120,514,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7840:Abca16
|
UTSW |
7 |
120,475,466 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7946:Abca16
|
UTSW |
7 |
120,527,175 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8018:Abca16
|
UTSW |
7 |
120,533,643 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8170:Abca16
|
UTSW |
7 |
120,465,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8413:Abca16
|
UTSW |
7 |
120,423,900 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8461:Abca16
|
UTSW |
7 |
120,436,695 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8858:Abca16
|
UTSW |
7 |
120,453,104 (GRCm38) |
missense |
probably benign |
|
|
R8881:Abca16
|
UTSW |
7 |
120,475,571 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9272:Abca16
|
UTSW |
7 |
120,477,770 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9303:Abca16
|
UTSW |
7 |
120,527,766 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9305:Abca16
|
UTSW |
7 |
120,527,766 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9320:Abca16
|
UTSW |
7 |
120,540,097 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9413:Abca16
|
UTSW |
7 |
120,527,199 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9512:Abca16
|
UTSW |
7 |
120,423,740 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9559:Abca16
|
UTSW |
7 |
120,421,796 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9615:Abca16
|
UTSW |
7 |
120,527,181 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9641:Abca16
|
UTSW |
7 |
120,527,085 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9643:Abca16
|
UTSW |
7 |
120,465,800 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9674:Abca16
|
UTSW |
7 |
120,475,445 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9714:Abca16
|
UTSW |
7 |
120,431,160 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9799:Abca16
|
UTSW |
7 |
120,533,775 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9800:Abca16
|
UTSW |
7 |
120,520,060 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
RF020:Abca16
|
UTSW |
7 |
120,533,657 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
X0066:Abca16
|
UTSW |
7 |
120,503,386 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTCACCAAGAGATTCTATG -3'
(R):5'- AAGAGACTTTCGGAGCTGTGC -3'
Sequencing Primer
(F):5'- GTCACCAAGAGATTCTATGTGATAAC -3'
(R):5'- GAGCAAAGTGAATCTTCATAGTTCTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation