Incidental Mutation 'R4868:Atp8b1'
| ID |
376374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b1
|
| Ensembl Gene |
ENSMUSG00000039529 |
| Gene Name |
ATPase, class I, type 8B, member 1 |
| Synonyms |
Ic, FIC1 |
| MMRRC Submission |
042478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64684937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 728
(I728N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025482
AA Change: I728N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: I728N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
65 |
144 |
5.3e-29 |
PFAM |
|
Pfam:E1-E2_ATPase
|
146 |
413 |
6e-11 |
PFAM |
|
Pfam:HAD
|
451 |
902 |
2.4e-21 |
PFAM |
|
Pfam:Cation_ATPase
|
532 |
632 |
1e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
919 |
1173 |
7.3e-82 |
PFAM |
|
low complexity region
|
1193 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1221 |
1232 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9136 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
99% (91/92) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display abnormal bile salt homeostasis, normal bile secretion, and an impaired ability to handle increased bile salt loading resulting in liver damage and weight loss on a bile salt supplemented diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,729 (GRCm39) |
*299W |
probably null |
Het |
| 4933412E24Rik |
G |
A |
15: 59,887,817 (GRCm39) |
L208F |
possibly damaging |
Het |
| Abca8b |
G |
A |
11: 109,865,338 (GRCm39) |
A373V |
probably benign |
Het |
| Actn3 |
A |
T |
19: 4,914,482 (GRCm39) |
W549R |
probably benign |
Het |
| Adamts4 |
C |
T |
1: 171,080,000 (GRCm39) |
|
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,011,179 (GRCm39) |
I615V |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,735,379 (GRCm39) |
S428P |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,393,252 (GRCm39) |
R2476W |
probably damaging |
Het |
| Alx3 |
A |
G |
3: 107,507,943 (GRCm39) |
S151G |
possibly damaging |
Het |
| Aoah |
T |
A |
13: 21,099,151 (GRCm39) |
Y243* |
probably null |
Het |
| Asap1 |
A |
G |
15: 63,966,030 (GRCm39) |
V1025A |
probably benign |
Het |
| Baz2b |
C |
A |
2: 59,755,226 (GRCm39) |
V1001L |
possibly damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,909,615 (GRCm39) |
S1030T |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,678,743 (GRCm39) |
|
probably null |
Het |
| Casp3 |
A |
T |
8: 47,087,314 (GRCm39) |
N87I |
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,612,569 (GRCm39) |
L995Q |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,924,776 (GRCm39) |
Y637N |
probably damaging |
Het |
| Ccr4 |
A |
G |
9: 114,321,901 (GRCm39) |
F55L |
probably benign |
Het |
| Cmah |
T |
A |
13: 24,648,247 (GRCm39) |
V494E |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,230,882 (GRCm39) |
Y362H |
probably damaging |
Het |
| Coq6 |
T |
C |
12: 84,417,726 (GRCm39) |
V222A |
probably damaging |
Het |
| Ctdspl2 |
C |
A |
2: 121,823,879 (GRCm39) |
T240N |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,754 (GRCm39) |
T248A |
possibly damaging |
Het |
| Dctn6 |
A |
T |
8: 34,559,230 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
T |
C |
7: 15,933,727 (GRCm39) |
D955G |
probably benign |
Het |
| Dnaaf5 |
A |
G |
5: 139,155,941 (GRCm39) |
M541V |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,999,038 (GRCm39) |
S912T |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,354,474 (GRCm39) |
V2248E |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,156,675 (GRCm39) |
W1502R |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,114,626 (GRCm39) |
V843E |
probably damaging |
Het |
| Esp23 |
G |
T |
17: 39,384,915 (GRCm39) |
T27K |
probably benign |
Het |
| Esp3 |
A |
T |
17: 40,944,420 (GRCm39) |
M21L |
possibly damaging |
Het |
| Fam43b |
T |
A |
4: 138,123,108 (GRCm39) |
T71S |
probably benign |
Het |
| Fpgs |
G |
A |
2: 32,582,673 (GRCm39) |
R63C |
probably damaging |
Het |
| H2-M11 |
G |
T |
17: 36,859,811 (GRCm39) |
W268L |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,645,203 (GRCm39) |
S210P |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,582,205 (GRCm39) |
S51T |
probably damaging |
Het |
| Kctd2 |
G |
A |
11: 115,320,205 (GRCm39) |
V246I |
probably damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,556 (GRCm39) |
G403E |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,520,040 (GRCm39) |
T48S |
probably benign |
Het |
| Lyzl4 |
C |
A |
9: 121,412,075 (GRCm39) |
V114L |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 52,011,345 (GRCm39) |
E74* |
probably null |
Het |
| Map2k7 |
G |
A |
8: 4,297,751 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
A |
G |
17: 25,120,389 (GRCm39) |
V883A |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 120,235,667 (GRCm39) |
V1004I |
probably benign |
Het |
| Metap1 |
G |
T |
3: 138,188,850 (GRCm39) |
H48Q |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,917,831 (GRCm39) |
V396E |
probably damaging |
Het |
| Mks1 |
T |
A |
11: 87,744,549 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,828,548 (GRCm39) |
T669A |
probably benign |
Het |
| Obox3 |
T |
C |
7: 15,361,235 (GRCm39) |
K10R |
probably damaging |
Het |
| Opn3 |
T |
C |
1: 175,491,127 (GRCm39) |
Y302C |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,916 (GRCm39) |
S207T |
probably damaging |
Het |
| Or6b6 |
C |
T |
7: 106,570,974 (GRCm39) |
M192I |
probably benign |
Het |
| Or9g8 |
T |
G |
2: 85,606,970 (GRCm39) |
V14G |
possibly damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,751 (GRCm39) |
V177D |
probably benign |
Het |
| Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
| Pmpcb |
T |
A |
5: 21,953,851 (GRCm39) |
Y366* |
probably null |
Het |
| Prr14l |
A |
T |
5: 32,987,281 (GRCm39) |
M738K |
probably benign |
Het |
| Prx |
T |
C |
7: 27,217,004 (GRCm39) |
S641P |
probably benign |
Het |
| Ptchd3 |
A |
G |
11: 121,721,883 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Reg3a |
A |
G |
6: 78,358,883 (GRCm39) |
E27G |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,878,124 (GRCm39) |
T300A |
possibly damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,642 (GRCm39) |
S259T |
probably damaging |
Het |
| Sike1 |
A |
G |
3: 102,904,730 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
G |
3: 72,850,881 (GRCm39) |
I606L |
probably benign |
Het |
| Slc30a9 |
T |
C |
5: 67,482,026 (GRCm39) |
I94T |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,014,065 (GRCm39) |
I424T |
probably damaging |
Het |
| Spx |
C |
T |
6: 142,362,116 (GRCm39) |
R72* |
probably null |
Het |
| St7 |
C |
A |
6: 17,819,265 (GRCm39) |
N56K |
probably damaging |
Het |
| Tcte2 |
C |
A |
17: 13,948,270 (GRCm39) |
G3V |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,213,393 (GRCm39) |
|
probably null |
Het |
| Tgfb3 |
T |
C |
12: 86,108,955 (GRCm39) |
D258G |
probably benign |
Het |
| Timeless |
G |
T |
10: 128,083,230 (GRCm39) |
G659V |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,958,443 (GRCm39) |
R467G |
possibly damaging |
Het |
| Tor1b |
T |
C |
2: 30,846,589 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,194,709 (GRCm39) |
L911Q |
probably damaging |
Het |
| Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,615,221 (GRCm39) |
I389N |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,417 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,536,488 (GRCm39) |
V216A |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,965,520 (GRCm39) |
V254E |
probably damaging |
Het |
| Vmn1r122 |
T |
C |
7: 20,867,227 (GRCm39) |
E276G |
probably benign |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,161 (GRCm39) |
N285I |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,484,480 (GRCm39) |
I442F |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,420,522 (GRCm39) |
A1741E |
probably damaging |
Het |
| Wdr20 |
T |
A |
12: 110,704,668 (GRCm39) |
V69E |
probably damaging |
Het |
| Xkr4 |
T |
G |
1: 3,287,074 (GRCm39) |
Q372P |
probably damaging |
Het |
|
| Other mutations in Atp8b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00472:Atp8b1
|
APN |
18 |
64,697,501 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL00907:Atp8b1
|
APN |
18 |
64,694,776 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00962:Atp8b1
|
APN |
18 |
64,664,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01433:Atp8b1
|
APN |
18 |
64,706,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01525:Atp8b1
|
APN |
18 |
64,672,323 (GRCm39) |
nonsense |
probably null |
|
|
IGL01645:Atp8b1
|
APN |
18 |
64,679,184 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02008:Atp8b1
|
APN |
18 |
64,671,766 (GRCm39) |
splice site |
probably benign |
|
|
IGL02227:Atp8b1
|
APN |
18 |
64,695,261 (GRCm39) |
missense |
probably benign |
|
|
IGL02231:Atp8b1
|
APN |
18 |
64,683,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02326:Atp8b1
|
APN |
18 |
64,671,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02562:Atp8b1
|
APN |
18 |
64,715,057 (GRCm39) |
missense |
probably benign |
|
|
IGL02929:Atp8b1
|
APN |
18 |
64,694,733 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
enchilada
|
UTSW |
18 |
64,679,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4520001:Atp8b1
|
UTSW |
18 |
64,701,251 (GRCm39) |
missense |
probably benign |
0.34 |
|
PIT4696001:Atp8b1
|
UTSW |
18 |
64,672,341 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0144:Atp8b1
|
UTSW |
18 |
64,704,445 (GRCm39) |
splice site |
probably benign |
|
|
R0193:Atp8b1
|
UTSW |
18 |
64,694,707 (GRCm39) |
missense |
probably benign |
|
|
R0277:Atp8b1
|
UTSW |
18 |
64,701,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0308:Atp8b1
|
UTSW |
18 |
64,678,315 (GRCm39) |
nonsense |
probably null |
|
|
R0323:Atp8b1
|
UTSW |
18 |
64,701,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0403:Atp8b1
|
UTSW |
18 |
64,673,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Atp8b1
|
UTSW |
18 |
64,704,724 (GRCm39) |
splice site |
probably null |
|
|
R0614:Atp8b1
|
UTSW |
18 |
64,666,658 (GRCm39) |
splice site |
probably benign |
|
|
R0883:Atp8b1
|
UTSW |
18 |
64,697,612 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1077:Atp8b1
|
UTSW |
18 |
64,706,333 (GRCm39) |
nonsense |
probably null |
|
|
R1292:Atp8b1
|
UTSW |
18 |
64,704,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1494:Atp8b1
|
UTSW |
18 |
64,697,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Atp8b1
|
UTSW |
18 |
64,683,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1534:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1536:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Atp8b1
|
UTSW |
18 |
64,678,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Atp8b1
|
UTSW |
18 |
64,704,620 (GRCm39) |
splice site |
probably benign |
|
|
R1772:Atp8b1
|
UTSW |
18 |
64,706,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2016:Atp8b1
|
UTSW |
18 |
64,673,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Atp8b1
|
UTSW |
18 |
64,673,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Atp8b1
|
UTSW |
18 |
64,738,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2223:Atp8b1
|
UTSW |
18 |
64,697,428 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3052:Atp8b1
|
UTSW |
18 |
64,686,179 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3694:Atp8b1
|
UTSW |
18 |
64,666,792 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3738:Atp8b1
|
UTSW |
18 |
64,666,800 (GRCm39) |
splice site |
probably benign |
|
|
R4211:Atp8b1
|
UTSW |
18 |
64,686,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Atp8b1
|
UTSW |
18 |
64,697,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Atp8b1
|
UTSW |
18 |
64,701,318 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4560:Atp8b1
|
UTSW |
18 |
64,689,950 (GRCm39) |
nonsense |
probably null |
|
|
R4562:Atp8b1
|
UTSW |
18 |
64,689,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Atp8b1
|
UTSW |
18 |
64,686,170 (GRCm39) |
missense |
probably null |
|
|
R4676:Atp8b1
|
UTSW |
18 |
64,671,749 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4738:Atp8b1
|
UTSW |
18 |
64,678,251 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4774:Atp8b1
|
UTSW |
18 |
64,666,730 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4808:Atp8b1
|
UTSW |
18 |
64,694,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5162:Atp8b1
|
UTSW |
18 |
64,694,733 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5289:Atp8b1
|
UTSW |
18 |
64,679,158 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5328:Atp8b1
|
UTSW |
18 |
64,664,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5400:Atp8b1
|
UTSW |
18 |
64,679,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5587:Atp8b1
|
UTSW |
18 |
64,672,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5623:Atp8b1
|
UTSW |
18 |
64,679,165 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5651:Atp8b1
|
UTSW |
18 |
64,664,453 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5652:Atp8b1
|
UTSW |
18 |
64,664,453 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5653:Atp8b1
|
UTSW |
18 |
64,678,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Atp8b1
|
UTSW |
18 |
64,714,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Atp8b1
|
UTSW |
18 |
64,697,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Atp8b1
|
UTSW |
18 |
64,710,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Atp8b1
|
UTSW |
18 |
64,664,550 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6759:Atp8b1
|
UTSW |
18 |
64,679,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6850:Atp8b1
|
UTSW |
18 |
64,689,923 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7255:Atp8b1
|
UTSW |
18 |
64,689,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Atp8b1
|
UTSW |
18 |
64,688,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7635:Atp8b1
|
UTSW |
18 |
64,706,376 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7639:Atp8b1
|
UTSW |
18 |
64,697,614 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7698:Atp8b1
|
UTSW |
18 |
64,704,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7727:Atp8b1
|
UTSW |
18 |
64,678,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Atp8b1
|
UTSW |
18 |
64,674,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7785:Atp8b1
|
UTSW |
18 |
64,689,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Atp8b1
|
UTSW |
18 |
64,704,095 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7990:Atp8b1
|
UTSW |
18 |
64,671,748 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8020:Atp8b1
|
UTSW |
18 |
64,679,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Atp8b1
|
UTSW |
18 |
64,690,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Atp8b1
|
UTSW |
18 |
64,684,931 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9064:Atp8b1
|
UTSW |
18 |
64,697,491 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9266:Atp8b1
|
UTSW |
18 |
64,710,528 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9266:Atp8b1
|
UTSW |
18 |
64,704,108 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9326:Atp8b1
|
UTSW |
18 |
64,706,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Atp8b1
|
UTSW |
18 |
64,704,476 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATTTGACCAGGGTGGAC -3'
(R):5'- CCAGCTTTTGATGACAGTGC -3'
Sequencing Primer
(F):5'- ACTGGACTAGGAGGAGGGTTTTTAAG -3'
(R):5'- TGATGACAGTGCCAGCCATTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation