Incidental Mutation 'R5566:Abcb5'
| ID |
436856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb5
|
| Ensembl Gene |
ENSMUSG00000072791 |
| Gene Name |
ATP-binding cassette, sub-family B (MDR/TAP), member 5 |
| Synonyms |
9230106F14Rik |
| MMRRC Submission |
043123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R5566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
118867824-118966421 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118935967 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 322
(T322S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035515]
|
| AlphaFold |
B5X0E4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035515
AA Change: T322S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: T322S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
49 |
338 |
1.9e-74 |
PFAM |
|
AAA
|
414 |
606 |
2.1e-19 |
SMART |
|
Pfam:ABC_membrane
|
693 |
967 |
7.3e-59 |
PFAM |
|
Blast:AAA
|
969 |
1040 |
2e-11 |
BLAST |
|
AAA
|
1043 |
1231 |
8.26e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110002H16Rik |
T |
C |
18: 12,180,692 (GRCm38) |
I26T |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,294,615 (GRCm38) |
Y2159* |
probably null |
Het |
| Abca3 |
A |
G |
17: 24,383,927 (GRCm38) |
T499A |
probably benign |
Het |
| Adamts4 |
T |
A |
1: 171,250,850 (GRCm38) |
M1K |
probably null |
Het |
| Adamtsl4 |
C |
T |
3: 95,685,455 (GRCm38) |
|
probably null |
Het |
| Adh4 |
A |
T |
3: 138,424,189 (GRCm38) |
I259F |
probably damaging |
Het |
| Aff3 |
G |
A |
1: 38,181,424 (GRCm38) |
S1135F |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,285,648 (GRCm38) |
D280G |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,251,733 (GRCm38) |
E71G |
probably damaging |
Het |
| BC030867 |
T |
A |
11: 102,255,833 (GRCm38) |
S312T |
probably damaging |
Het |
| Calb2 |
A |
G |
8: 110,152,700 (GRCm38) |
I91T |
possibly damaging |
Het |
| Ccr5 |
A |
G |
9: 124,124,660 (GRCm38) |
N100S |
probably benign |
Het |
| Cep57 |
G |
T |
9: 13,821,575 (GRCm38) |
R25S |
probably damaging |
Het |
| Chadl |
A |
G |
15: 81,695,878 (GRCm38) |
L52P |
probably damaging |
Het |
| Clec12b |
T |
C |
6: 129,385,475 (GRCm38) |
T6A |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,618,250 (GRCm38) |
N43Y |
probably damaging |
Het |
| Col20a1 |
A |
T |
2: 180,986,523 (GRCm38) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,462,889 (GRCm38) |
|
probably null |
Het |
| Ctps |
A |
T |
4: 120,554,103 (GRCm38) |
|
probably null |
Het |
| Cyp39a1 |
T |
A |
17: 43,685,208 (GRCm38) |
W224R |
possibly damaging |
Het |
| Defb29 |
A |
T |
2: 152,538,928 (GRCm38) |
Y54N |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 131,106,273 (GRCm38) |
D1241V |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,274,366 (GRCm38) |
I2671K |
probably benign |
Het |
| Dnah2 |
C |
A |
11: 69,516,569 (GRCm38) |
E158* |
probably null |
Het |
| Edar |
A |
G |
10: 58,628,641 (GRCm38) |
S59P |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,540,766 (GRCm38) |
C339* |
probably null |
Het |
| Eif5b |
G |
A |
1: 38,051,247 (GRCm38) |
G1169E |
probably damaging |
Het |
| Eif5b |
G |
A |
1: 38,045,684 (GRCm38) |
V871I |
possibly damaging |
Het |
| Erap1 |
A |
G |
13: 74,662,412 (GRCm38) |
Y290C |
probably damaging |
Het |
| Fastkd5 |
T |
A |
2: 130,614,301 (GRCm38) |
T790S |
possibly damaging |
Het |
| Fkrp |
C |
T |
7: 16,810,924 (GRCm38) |
V338M |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,307,490 (GRCm38) |
T378A |
probably benign |
Het |
| Gm4924 |
C |
A |
10: 82,378,641 (GRCm38) |
Q17K |
possibly damaging |
Het |
| Gm9847 |
A |
G |
12: 14,494,999 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,236,919 (GRCm38) |
F429S |
probably damaging |
Het |
| Gpr162 |
G |
A |
6: 124,860,938 (GRCm38) |
R250* |
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,567,594 (GRCm38) |
D295E |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,584,297 (GRCm38) |
T121I |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,465,537 (GRCm38) |
M3125K |
possibly damaging |
Het |
| Hoxb6 |
T |
A |
11: 96,300,754 (GRCm38) |
Y167* |
probably null |
Het |
| Htt |
T |
C |
5: 34,849,075 (GRCm38) |
Y1443H |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,625,298 (GRCm38) |
D28G |
probably damaging |
Het |
| Impact |
T |
G |
18: 12,974,762 (GRCm38) |
V29G |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,115,952 (GRCm38) |
T2147A |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,626,554 (GRCm38) |
L50Q |
probably damaging |
Het |
| Jade1 |
A |
G |
3: 41,604,903 (GRCm38) |
D473G |
possibly damaging |
Het |
| Kif26a |
T |
G |
12: 112,157,354 (GRCm38) |
L131R |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 106,993,924 (GRCm38) |
M1K |
probably null |
Het |
| Lrsam1 |
C |
A |
2: 32,941,858 (GRCm38) |
Q368H |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,435,164 (GRCm38) |
Q4592R |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 20,110,719 (GRCm38) |
V893A |
probably damaging |
Het |
| Med13l |
G |
T |
5: 118,728,665 (GRCm38) |
V595F |
possibly damaging |
Het |
| Mocs1 |
T |
A |
17: 49,454,183 (GRCm38) |
L435Q |
possibly damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,604,530 (GRCm38) |
L471P |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 98,064,816 (GRCm38) |
E1616G |
possibly damaging |
Het |
| Nacad |
T |
A |
11: 6,602,136 (GRCm38) |
S352C |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 107,369,135 (GRCm38) |
M817K |
possibly damaging |
Het |
| Ofcc1 |
C |
A |
13: 40,094,653 (GRCm38) |
L668F |
probably damaging |
Het |
| Olfr1062 |
G |
A |
2: 86,423,377 (GRCm38) |
Q100* |
probably null |
Het |
| Olfr18 |
T |
C |
9: 20,313,969 (GRCm38) |
Q309R |
probably benign |
Het |
| Olfr527 |
C |
A |
7: 140,336,067 (GRCm38) |
D68E |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,164,020 (GRCm38) |
T696A |
probably benign |
Het |
| Prkab2 |
T |
A |
3: 97,662,293 (GRCm38) |
F58L |
probably benign |
Het |
| Prpf4 |
G |
T |
4: 62,415,969 (GRCm38) |
L220F |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,681,346 (GRCm38) |
D199E |
probably benign |
Het |
| Raet1e |
T |
C |
10: 22,174,405 (GRCm38) |
L29P |
probably damaging |
Het |
| Ralgapb |
A |
C |
2: 158,494,710 (GRCm38) |
T1089P |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,282,326 (GRCm38) |
E864G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,793,774 (GRCm38) |
I289F |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 23,810,953 (GRCm38) |
Y406H |
probably damaging |
Het |
| Rpl31 |
C |
T |
1: 39,370,027 (GRCm38) |
R41C |
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,974,534 (GRCm38) |
S485P |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,787,970 (GRCm38) |
V249E |
possibly damaging |
Het |
| Slc39a12 |
C |
T |
2: 14,407,603 (GRCm38) |
T362I |
possibly damaging |
Het |
| Sos1 |
C |
T |
17: 80,453,890 (GRCm38) |
V126I |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,525,303 (GRCm38) |
F215S |
probably damaging |
Het |
| Supt4a |
T |
A |
11: 87,743,287 (GRCm38) |
S110T |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,302,110 (GRCm38) |
T232S |
probably damaging |
Het |
| Tctex1d2 |
A |
G |
16: 32,419,900 (GRCm38) |
Y31C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,279,006 (GRCm38) |
C1288R |
probably damaging |
Het |
| Tespa1 |
T |
A |
10: 130,355,487 (GRCm38) |
L100* |
probably null |
Het |
| Tgm1 |
C |
A |
14: 55,712,436 (GRCm38) |
R105L |
probably damaging |
Het |
| Tgoln1 |
G |
A |
6: 72,616,035 (GRCm38) |
T154I |
possibly damaging |
Het |
| Trp53i13 |
G |
A |
11: 77,508,726 (GRCm38) |
T259I |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,184,770 (GRCm38) |
F320I |
possibly damaging |
Het |
| Vmn1r21 |
A |
C |
6: 57,844,094 (GRCm38) |
Y122D |
probably benign |
Het |
| Vmn1r75 |
T |
A |
7: 11,880,480 (GRCm38) |
D46E |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,545,290 (GRCm38) |
L9M |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 42,046,823 (GRCm38) |
I165T |
possibly damaging |
Het |
| Vmn2r76 |
A |
T |
7: 86,226,078 (GRCm38) |
Y564N |
probably damaging |
Het |
| Wee1 |
G |
T |
7: 110,126,050 (GRCm38) |
E300* |
probably null |
Het |
| Xdh |
T |
C |
17: 73,893,622 (GRCm38) |
D1168G |
probably damaging |
Het |
| Zcchc6 |
A |
T |
13: 59,788,629 (GRCm38) |
C817* |
probably null |
Het |
| Zfp54 |
A |
G |
17: 21,433,444 (GRCm38) |
T67A |
probably damaging |
Het |
| Zfp941 |
G |
T |
7: 140,812,766 (GRCm38) |
H227N |
probably benign |
Het |
| Zpr1 |
T |
A |
9: 46,281,075 (GRCm38) |
V399D |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,455,824 (GRCm38) |
E285G |
probably damaging |
Het |
|
| Other mutations in Abcb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Abcb5
|
APN |
12 |
118,890,610 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00092:Abcb5
|
APN |
12 |
118,928,695 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL00503:Abcb5
|
APN |
12 |
118,907,601 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00776:Abcb5
|
APN |
12 |
118,919,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01116:Abcb5
|
APN |
12 |
118,886,176 (GRCm38) |
missense |
probably benign |
|
|
IGL01302:Abcb5
|
APN |
12 |
118,918,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01403:Abcb5
|
APN |
12 |
118,872,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01453:Abcb5
|
APN |
12 |
118,867,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01541:Abcb5
|
APN |
12 |
118,911,434 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01784:Abcb5
|
APN |
12 |
118,890,664 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL01967:Abcb5
|
APN |
12 |
118,867,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01987:Abcb5
|
APN |
12 |
118,927,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02104:Abcb5
|
APN |
12 |
118,940,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02161:Abcb5
|
APN |
12 |
118,874,755 (GRCm38) |
missense |
probably benign |
|
|
IGL02292:Abcb5
|
APN |
12 |
118,918,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02381:Abcb5
|
APN |
12 |
118,940,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02544:Abcb5
|
APN |
12 |
118,906,268 (GRCm38) |
splice site |
probably benign |
|
|
IGL02685:Abcb5
|
APN |
12 |
118,905,947 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02824:Abcb5
|
APN |
12 |
118,890,685 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02876:Abcb5
|
APN |
12 |
118,919,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02929:Abcb5
|
APN |
12 |
118,944,939 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03030:Abcb5
|
APN |
12 |
118,940,369 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03062:Abcb5
|
APN |
12 |
118,936,087 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL03200:Abcb5
|
APN |
12 |
118,965,254 (GRCm38) |
splice site |
probably benign |
|
|
IGL03407:Abcb5
|
APN |
12 |
118,940,376 (GRCm38) |
missense |
probably benign |
0.01 |
|
alphabet
|
UTSW |
12 |
118,890,618 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
google
|
UTSW |
12 |
118,867,930 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
F5770:Abcb5
|
UTSW |
12 |
118,886,179 (GRCm38) |
missense |
probably benign |
0.07 |
|
PIT4366001:Abcb5
|
UTSW |
12 |
118,936,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4434001:Abcb5
|
UTSW |
12 |
118,890,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0078:Abcb5
|
UTSW |
12 |
118,927,394 (GRCm38) |
missense |
probably benign |
|
|
R0219:Abcb5
|
UTSW |
12 |
118,886,150 (GRCm38) |
splice site |
probably benign |
|
|
R0312:Abcb5
|
UTSW |
12 |
118,872,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0347:Abcb5
|
UTSW |
12 |
118,965,251 (GRCm38) |
splice site |
probably benign |
|
|
R0359:Abcb5
|
UTSW |
12 |
118,940,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0433:Abcb5
|
UTSW |
12 |
118,877,810 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0582:Abcb5
|
UTSW |
12 |
118,940,412 (GRCm38) |
missense |
probably benign |
0.40 |
|
R0815:Abcb5
|
UTSW |
12 |
118,901,449 (GRCm38) |
splice site |
probably benign |
|
|
R0900:Abcb5
|
UTSW |
12 |
118,940,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0942:Abcb5
|
UTSW |
12 |
118,906,198 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0988:Abcb5
|
UTSW |
12 |
118,932,575 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1125:Abcb5
|
UTSW |
12 |
118,911,547 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1437:Abcb5
|
UTSW |
12 |
118,874,762 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1469:Abcb5
|
UTSW |
12 |
118,867,946 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1469:Abcb5
|
UTSW |
12 |
118,867,946 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1678:Abcb5
|
UTSW |
12 |
118,965,329 (GRCm38) |
start gained |
probably benign |
|
|
R1726:Abcb5
|
UTSW |
12 |
118,907,532 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1726:Abcb5
|
UTSW |
12 |
118,874,801 (GRCm38) |
splice site |
probably null |
|
|
R1836:Abcb5
|
UTSW |
12 |
118,867,961 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1934:Abcb5
|
UTSW |
12 |
118,907,500 (GRCm38) |
splice site |
probably null |
|
|
R1976:Abcb5
|
UTSW |
12 |
118,890,682 (GRCm38) |
missense |
probably benign |
|
|
R2005:Abcb5
|
UTSW |
12 |
118,877,827 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2068:Abcb5
|
UTSW |
12 |
118,940,568 (GRCm38) |
nonsense |
probably null |
|
|
R2181:Abcb5
|
UTSW |
12 |
118,867,946 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2191:Abcb5
|
UTSW |
12 |
118,867,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3690:Abcb5
|
UTSW |
12 |
118,872,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3746:Abcb5
|
UTSW |
12 |
118,874,620 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3825:Abcb5
|
UTSW |
12 |
118,901,352 (GRCm38) |
splice site |
probably null |
|
|
R3919:Abcb5
|
UTSW |
12 |
118,890,618 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4049:Abcb5
|
UTSW |
12 |
118,868,669 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4409:Abcb5
|
UTSW |
12 |
118,872,922 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4606:Abcb5
|
UTSW |
12 |
118,932,610 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4705:Abcb5
|
UTSW |
12 |
118,965,305 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4954:Abcb5
|
UTSW |
12 |
118,911,434 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4966:Abcb5
|
UTSW |
12 |
118,886,891 (GRCm38) |
intron |
probably benign |
|
|
R5169:Abcb5
|
UTSW |
12 |
118,877,817 (GRCm38) |
nonsense |
probably null |
|
|
R5327:Abcb5
|
UTSW |
12 |
118,911,543 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5333:Abcb5
|
UTSW |
12 |
118,867,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5366:Abcb5
|
UTSW |
12 |
118,867,930 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5373:Abcb5
|
UTSW |
12 |
118,887,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5399:Abcb5
|
UTSW |
12 |
118,911,499 (GRCm38) |
missense |
probably benign |
|
|
R5416:Abcb5
|
UTSW |
12 |
118,907,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5447:Abcb5
|
UTSW |
12 |
118,927,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5474:Abcb5
|
UTSW |
12 |
118,940,690 (GRCm38) |
missense |
probably null |
1.00 |
|
R5685:Abcb5
|
UTSW |
12 |
118,932,613 (GRCm38) |
splice site |
probably null |
|
|
R5691:Abcb5
|
UTSW |
12 |
118,927,235 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5742:Abcb5
|
UTSW |
12 |
118,918,257 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5852:Abcb5
|
UTSW |
12 |
118,927,404 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5917:Abcb5
|
UTSW |
12 |
118,868,781 (GRCm38) |
nonsense |
probably null |
|
|
R5994:Abcb5
|
UTSW |
12 |
118,965,260 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6295:Abcb5
|
UTSW |
12 |
118,874,644 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6455:Abcb5
|
UTSW |
12 |
118,890,549 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6609:Abcb5
|
UTSW |
12 |
118,928,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6753:Abcb5
|
UTSW |
12 |
118,944,906 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6818:Abcb5
|
UTSW |
12 |
118,901,354 (GRCm38) |
splice site |
probably null |
|
|
R6870:Abcb5
|
UTSW |
12 |
118,965,265 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6944:Abcb5
|
UTSW |
12 |
118,911,530 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6957:Abcb5
|
UTSW |
12 |
118,907,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6984:Abcb5
|
UTSW |
12 |
118,927,277 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7021:Abcb5
|
UTSW |
12 |
118,931,925 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7061:Abcb5
|
UTSW |
12 |
118,877,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7175:Abcb5
|
UTSW |
12 |
118,867,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7239:Abcb5
|
UTSW |
12 |
118,928,725 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7267:Abcb5
|
UTSW |
12 |
118,952,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7303:Abcb5
|
UTSW |
12 |
118,911,560 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7396:Abcb5
|
UTSW |
12 |
118,867,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7605:Abcb5
|
UTSW |
12 |
118,918,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7989:Abcb5
|
UTSW |
12 |
118,911,543 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8177:Abcb5
|
UTSW |
12 |
118,872,790 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8296:Abcb5
|
UTSW |
12 |
118,874,732 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8544:Abcb5
|
UTSW |
12 |
118,868,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8558:Abcb5
|
UTSW |
12 |
118,877,831 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8790:Abcb5
|
UTSW |
12 |
118,867,885 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9003:Abcb5
|
UTSW |
12 |
118,886,278 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9038:Abcb5
|
UTSW |
12 |
118,931,916 (GRCm38) |
missense |
probably benign |
|
|
R9410:Abcb5
|
UTSW |
12 |
118,905,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9497:Abcb5
|
UTSW |
12 |
118,936,115 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9666:Abcb5
|
UTSW |
12 |
118,874,687 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9682:Abcb5
|
UTSW |
12 |
118,932,593 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9756:Abcb5
|
UTSW |
12 |
118,918,138 (GRCm38) |
missense |
probably damaging |
0.98 |
|
V7580:Abcb5
|
UTSW |
12 |
118,886,179 (GRCm38) |
missense |
probably benign |
0.07 |
|
Z1176:Abcb5
|
UTSW |
12 |
118,918,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGAGAAGGTAATCATCCTTATTCAA -3'
(R):5'- GGTGTTTTGCTTTGTAAGGTATACAC -3'
Sequencing Primer
(F):5'- CCCTTGATCCTGTAAAGGCTAGATG -3'
(R):5'- GCTTTGTAAGGTATACACAGCAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation