Incidental Mutation 'R5652:Atp8b1'
ID |
441534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b1
|
Ensembl Gene |
ENSMUSG00000039529 |
Gene Name |
ATPase, class I, type 8B, member 1 |
Synonyms |
Ic, FIC1 |
MMRRC Submission |
043298-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5652 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 64664453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 1238
(I1238M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
AlphaFold |
Q148W0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025482
AA Change: I1238M
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000025482 Gene: ENSMUSG00000039529 AA Change: I1238M
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
C |
14: 118,856,339 (GRCm39) |
I334V |
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,696,156 (GRCm39) |
A334T |
probably damaging |
Het |
Adcy4 |
G |
C |
14: 56,010,900 (GRCm39) |
F672L |
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,656,444 (GRCm39) |
Y254C |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,174,065 (GRCm39) |
S115P |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,134,356 (GRCm39) |
S1110C |
probably damaging |
Het |
Arhgap44 |
G |
T |
11: 64,915,064 (GRCm39) |
N401K |
probably damaging |
Het |
Atp23 |
A |
T |
10: 126,735,494 (GRCm39) |
N63K |
possibly damaging |
Het |
Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
Celsr2 |
T |
C |
3: 108,304,051 (GRCm39) |
D2364G |
probably null |
Het |
Celsr3 |
G |
A |
9: 108,715,671 (GRCm39) |
D2116N |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,389,279 (GRCm39) |
S1518P |
probably damaging |
Het |
Clcn3 |
C |
A |
8: 61,372,387 (GRCm39) |
V758L |
possibly damaging |
Het |
Cmklr2 |
A |
G |
1: 63,222,626 (GRCm39) |
V203A |
probably benign |
Het |
Ctsf |
T |
C |
19: 4,908,505 (GRCm39) |
L288P |
probably damaging |
Het |
Cwh43 |
A |
G |
5: 73,575,484 (GRCm39) |
T334A |
probably damaging |
Het |
Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,691,138 (GRCm39) |
I260T |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,865,201 (GRCm39) |
H47R |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,632,422 (GRCm39) |
V4514I |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,116,638 (GRCm39) |
M66K |
probably benign |
Het |
Fam186a |
T |
G |
15: 99,843,253 (GRCm39) |
Y997S |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
Fat4 |
C |
T |
3: 39,057,117 (GRCm39) |
T4271I |
probably damaging |
Het |
Fdxacb1 |
T |
A |
9: 50,679,705 (GRCm39) |
L41Q |
probably damaging |
Het |
Fgfr2 |
C |
T |
7: 129,863,593 (GRCm39) |
V18M |
probably damaging |
Het |
Gpa33 |
A |
C |
1: 165,992,714 (GRCm39) |
|
probably null |
Het |
Gpr107 |
A |
G |
2: 31,075,601 (GRCm39) |
I371V |
probably benign |
Het |
H1f6 |
A |
G |
13: 23,880,219 (GRCm39) |
K124R |
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,581,720 (GRCm39) |
V420A |
probably damaging |
Het |
Iglc3 |
A |
G |
16: 18,884,420 (GRCm39) |
|
probably benign |
Het |
Igtp |
A |
G |
11: 58,097,455 (GRCm39) |
T209A |
probably benign |
Het |
Itgb7 |
T |
A |
15: 102,124,638 (GRCm39) |
N793I |
possibly damaging |
Het |
Kansl1 |
G |
A |
11: 104,228,992 (GRCm39) |
R870C |
probably damaging |
Het |
Kcnh6 |
C |
T |
11: 105,899,811 (GRCm39) |
R27C |
probably damaging |
Het |
Kif2b |
T |
A |
11: 91,466,656 (GRCm39) |
E542D |
possibly damaging |
Het |
Klhl24 |
C |
A |
16: 19,938,997 (GRCm39) |
Y517* |
probably null |
Het |
Klhl25 |
A |
G |
7: 75,515,895 (GRCm39) |
D267G |
probably benign |
Het |
Krr1 |
C |
A |
10: 111,813,288 (GRCm39) |
F195L |
possibly damaging |
Het |
Lsr |
C |
T |
7: 30,658,456 (GRCm39) |
G95D |
probably damaging |
Het |
Matcap2 |
A |
G |
9: 22,335,786 (GRCm39) |
T135A |
probably benign |
Het |
Med15 |
A |
T |
16: 17,473,055 (GRCm39) |
I504N |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,817,140 (GRCm39) |
R70G |
probably benign |
Het |
Mypn |
T |
A |
10: 62,971,580 (GRCm39) |
Q820L |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,330,803 (GRCm39) |
H863Q |
probably benign |
Het |
Nudt9 |
G |
A |
5: 104,207,646 (GRCm39) |
V213M |
probably benign |
Het |
Or5ak4 |
T |
A |
2: 85,161,717 (GRCm39) |
N175I |
probably damaging |
Het |
Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
Or7g16 |
A |
G |
9: 18,726,922 (GRCm39) |
S223P |
probably damaging |
Het |
Or8c13 |
T |
C |
9: 38,092,111 (GRCm39) |
T3A |
probably benign |
Het |
Orc2 |
A |
G |
1: 58,505,231 (GRCm39) |
F475L |
probably damaging |
Het |
Oxa1l |
T |
A |
14: 54,604,289 (GRCm39) |
L183* |
probably null |
Het |
Pcdh20 |
T |
C |
14: 88,704,760 (GRCm39) |
T847A |
probably damaging |
Het |
Pcdha6 |
G |
A |
18: 37,101,889 (GRCm39) |
|
probably null |
Het |
Pip5k1a |
T |
C |
3: 94,974,750 (GRCm39) |
N376S |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,859,889 (GRCm39) |
E573G |
probably benign |
Het |
Pkp1 |
T |
A |
1: 135,810,335 (GRCm39) |
|
probably null |
Het |
Pum1 |
T |
C |
4: 130,491,438 (GRCm39) |
I643T |
possibly damaging |
Het |
Rapgef3 |
A |
G |
15: 97,656,318 (GRCm39) |
S328P |
probably benign |
Het |
Raver1 |
A |
G |
9: 21,001,608 (GRCm39) |
V75A |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,135,408 (GRCm39) |
E511G |
probably damaging |
Het |
Satb1 |
T |
A |
17: 52,049,823 (GRCm39) |
T544S |
probably damaging |
Het |
Sdcbp2 |
T |
C |
2: 151,431,135 (GRCm39) |
V248A |
probably benign |
Het |
Sema7a |
A |
G |
9: 57,867,942 (GRCm39) |
D506G |
probably damaging |
Het |
Septin8 |
A |
G |
11: 53,428,044 (GRCm39) |
E286G |
probably damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,372,812 (GRCm39) |
I660V |
probably damaging |
Het |
Stk38l |
G |
T |
6: 146,674,826 (GRCm39) |
D364Y |
possibly damaging |
Het |
Sycp2 |
T |
C |
2: 178,000,498 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
T |
A |
15: 57,815,062 (GRCm39) |
S580T |
probably damaging |
Het |
Tcerg1l |
G |
A |
7: 137,881,775 (GRCm39) |
R305C |
probably damaging |
Het |
Tek |
T |
A |
4: 94,743,561 (GRCm39) |
Y859N |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,962,191 (GRCm39) |
|
probably null |
Het |
Tmem132d |
A |
T |
5: 127,861,859 (GRCm39) |
I754N |
possibly damaging |
Het |
Togaram1 |
G |
A |
12: 65,063,424 (GRCm39) |
V1580I |
probably benign |
Het |
Troap |
A |
G |
15: 98,980,145 (GRCm39) |
T442A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
Twnk |
T |
A |
19: 44,995,732 (GRCm39) |
V55E |
possibly damaging |
Het |
Uggt1 |
A |
T |
1: 36,255,234 (GRCm39) |
Y225* |
probably null |
Het |
Vmn2r109 |
A |
G |
17: 20,760,781 (GRCm39) |
*859Q |
probably null |
Het |
Vmn2r17 |
A |
T |
5: 109,577,430 (GRCm39) |
I494L |
probably benign |
Het |
Vmn2r88 |
T |
C |
14: 51,656,029 (GRCm39) |
V746A |
probably damaging |
Het |
Yae1d1 |
A |
G |
13: 18,166,291 (GRCm39) |
L57P |
probably damaging |
Het |
Zfp26 |
G |
A |
9: 20,349,137 (GRCm39) |
R476* |
probably null |
Het |
Zmynd8 |
T |
A |
2: 165,649,618 (GRCm39) |
Q816L |
probably damaging |
Het |
Zswim8 |
A |
T |
14: 20,763,495 (GRCm39) |
H414L |
possibly 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 |
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 |
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'- TGGCTTTGCGATTGCTTAAC -3'
(R):5'- TCCAGAAGCATCGAAAGCG -3'
Sequencing Primer
(F):5'- ACAGCACAATCCTAGAAGTTTATTG -3'
(R):5'- TCGAAAGCGATTGAAGGCTG -3'
|
Posted On |
2016-11-08 |