Incidental Mutation 'R7874:Atp8b1'
| ID |
608353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b1
|
| Ensembl Gene |
ENSMUSG00000039529 |
| Gene Name |
ATPase, class I, type 8B, member 1 |
| Synonyms |
Ic, FIC1 |
| MMRRC Submission |
045926-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7874 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64704095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 341
(V341A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025482
AA Change: V341A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: V341A
| 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 |
0.3067 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
C |
A |
3: 6,685,201 (GRCm39) |
K84N |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,583,271 (GRCm39) |
F276L |
possibly damaging |
Het |
| Aicda |
T |
A |
6: 122,538,908 (GRCm39) |
I179N |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,049,275 (GRCm39) |
H210L |
unknown |
Het |
| Ano1 |
G |
A |
7: 144,175,461 (GRCm39) |
R486W |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,600 (GRCm39) |
N536S |
possibly damaging |
Het |
| Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Ceacam19 |
A |
T |
7: 19,620,363 (GRCm39) |
D89E |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,168,981 (GRCm39) |
R407S |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,667,224 (GRCm39) |
T389A |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,346,056 (GRCm39) |
|
probably null |
Het |
| Defa39 |
C |
A |
8: 22,192,812 (GRCm39) |
R61S |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,922,485 (GRCm39) |
Q558R |
possibly damaging |
Het |
| Dhx36 |
C |
A |
3: 62,396,052 (GRCm39) |
V452L |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,185,687 (GRCm39) |
V1906A |
probably damaging |
Het |
| Emc4 |
T |
C |
2: 112,194,178 (GRCm39) |
T159A |
probably damaging |
Het |
| Fstl5 |
C |
A |
3: 76,569,093 (GRCm39) |
P582Q |
probably benign |
Het |
| Izumo1r |
T |
A |
9: 14,811,875 (GRCm39) |
Y171F |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,879,566 (GRCm39) |
V401M |
probably damaging |
Het |
| Jph2 |
C |
T |
2: 163,217,762 (GRCm39) |
G305S |
probably damaging |
Het |
| Kbtbd13 |
C |
A |
9: 65,297,584 (GRCm39) |
V451L |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,409,077 (GRCm39) |
T813A |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,875,783 (GRCm39) |
L1295P |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,155,374 (GRCm39) |
D362E |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,598,290 (GRCm39) |
Y77C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Mup8 |
T |
A |
4: 60,222,420 (GRCm39) |
H17L |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,680,413 (GRCm39) |
M231L |
probably benign |
Het |
| Obscn |
T |
G |
11: 59,024,102 (GRCm39) |
T523P |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,573 (GRCm39) |
V301A |
possibly damaging |
Het |
| P4htm |
G |
T |
9: 108,474,148 (GRCm39) |
A130E |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,863 (GRCm39) |
D439E |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,317,603 (GRCm39) |
I1275V |
probably benign |
Het |
| Poln |
A |
T |
5: 34,181,694 (GRCm39) |
I719N |
probably damaging |
Het |
| Ptch2 |
T |
A |
4: 116,963,161 (GRCm39) |
L216Q |
possibly damaging |
Het |
| Rarres2 |
T |
A |
6: 48,549,079 (GRCm39) |
K41N |
probably benign |
Het |
| Rasal3 |
C |
T |
17: 32,615,681 (GRCm39) |
E386K |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,698,491 (GRCm39) |
I996T |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,131,100 (GRCm39) |
N36S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,203,983 (GRCm39) |
V526A |
probably benign |
Het |
| Slc45a4 |
T |
C |
15: 73,456,184 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
G |
A |
17: 24,034,652 (GRCm39) |
R432H |
unknown |
Het |
| Th |
G |
A |
7: 142,449,308 (GRCm39) |
R266* |
probably null |
Het |
| Tln1 |
T |
C |
4: 43,538,041 (GRCm39) |
Y1853C |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,555,606 (GRCm39) |
D169E |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,386,889 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,930,417 (GRCm39) |
E2034G |
probably damaging |
Het |
| Top6bl |
C |
T |
19: 4,708,451 (GRCm39) |
C347Y |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,522,881 (GRCm39) |
T346A |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,453 (GRCm39) |
V842E |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,345 (GRCm39) |
N781K |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,978 (GRCm39) |
Y67N |
possibly damaging |
Het |
| Zfp273 |
A |
G |
13: 67,973,558 (GRCm39) |
T229A |
probably benign |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,773,217 (GRCm39) |
H1769R |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,750,479 (GRCm39) |
V929A |
probably benign |
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 |
|
R4868:Atp8b1
|
UTSW |
18 |
64,684,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGGCTTGGGAGTCCCTTTACATC -3'
(R):5'- AGCCAGACCAGAAGTGTTTG -3'
Sequencing Primer
(F):5'- ATCCATCCCGTTAGGCTTGGG -3'
(R):5'- CCAGACCAGAAGTGTTTGTCATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation