Incidental Mutation 'R8161:Atp8b1'
| ID |
633551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b1
|
| Ensembl Gene |
ENSMUSG00000039529 |
| Gene Name |
ATPase, class I, type 8B, member 1 |
| Synonyms |
Ic, FIC1 |
| MMRRC Submission |
067587-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8161 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64690058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 558
(L558Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025482
AA Change: L558Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: L558Q
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.8%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
C |
9: 101,815,968 (GRCm39) |
L51P |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,133,003 (GRCm39) |
M1121K |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,778 (GRCm39) |
N371S |
|
Het |
| Arhgef5 |
T |
A |
6: 43,260,885 (GRCm39) |
C1437S |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,016,729 (GRCm39) |
K94R |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,519,935 (GRCm39) |
V435D |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,241,711 (GRCm39) |
N1474S |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,855,038 (GRCm39) |
D2089G |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,270,264 (GRCm39) |
M492K |
unknown |
Het |
| Col16a1 |
A |
T |
4: 129,954,262 (GRCm39) |
T502S |
unknown |
Het |
| Csl |
A |
T |
10: 99,594,182 (GRCm39) |
N294K |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,350,850 (GRCm39) |
M2624K |
possibly damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,535,251 (GRCm39) |
H172N |
probably damaging |
Het |
| Eef1a1 |
C |
T |
9: 78,387,672 (GRCm39) |
V59I |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 102,072,012 (GRCm39) |
K256E |
probably damaging |
Het |
| Erlin2 |
C |
A |
8: 27,518,970 (GRCm39) |
T78N |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,044,793 (GRCm39) |
L614P |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,866,555 (GRCm39) |
D1555E |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,566 (GRCm39) |
D230G |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,291,465 (GRCm39) |
S840T |
probably benign |
Het |
| Glyctk |
G |
A |
9: 106,034,892 (GRCm39) |
T58I |
probably benign |
Het |
| Gm12258 |
G |
A |
11: 58,750,138 (GRCm39) |
A438T |
unknown |
Het |
| Gm14305 |
A |
G |
2: 176,413,298 (GRCm39) |
T397A |
probably benign |
Het |
| Hnrnpu |
G |
T |
1: 178,165,067 (GRCm39) |
R24S |
possibly damaging |
Het |
| Iffo2 |
A |
G |
4: 139,302,265 (GRCm39) |
N3D |
possibly damaging |
Het |
| Insr |
C |
T |
8: 3,308,660 (GRCm39) |
M125I |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Kcnj16 |
T |
A |
11: 110,915,341 (GRCm39) |
M1K |
probably null |
Het |
| Kcns3 |
G |
A |
12: 11,169,764 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,579,562 (GRCm39) |
V578A |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,839,137 (GRCm39) |
K444R |
probably damaging |
Het |
| Mtg2 |
T |
C |
2: 179,727,368 (GRCm39) |
V340A |
probably benign |
Het |
| Mtr |
A |
C |
13: 12,236,372 (GRCm39) |
L618R |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,124,991 (GRCm39) |
D23E |
unknown |
Het |
| Nos1ap |
A |
G |
1: 170,218,328 (GRCm39) |
V27A |
probably damaging |
Het |
| Npc1 |
A |
T |
18: 12,328,129 (GRCm39) |
I1060K |
possibly damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,401,193 (GRCm39) |
L23* |
probably null |
Het |
| Or10ag52 |
T |
C |
2: 87,044,148 (GRCm39) |
I304T |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,544 (GRCm39) |
M110L |
probably benign |
Het |
| Or6c6c |
A |
T |
10: 129,540,753 (GRCm39) |
K2I |
possibly damaging |
Het |
| Or8b3 |
C |
A |
9: 38,314,803 (GRCm39) |
T211K |
probably damaging |
Het |
| Or9s13 |
G |
A |
1: 92,548,078 (GRCm39) |
R150H |
probably benign |
Het |
| Pcdhgc5 |
A |
T |
18: 37,954,615 (GRCm39) |
T630S |
probably damaging |
Het |
| Pgm2 |
C |
A |
5: 64,269,503 (GRCm39) |
T530K |
probably damaging |
Het |
| Phf20l1 |
A |
T |
15: 66,475,922 (GRCm39) |
N185I |
probably damaging |
Het |
| Pkp2 |
A |
G |
16: 16,031,313 (GRCm39) |
D26G |
probably damaging |
Het |
| Rangap1 |
C |
T |
15: 81,594,696 (GRCm39) |
E378K |
probably benign |
Het |
| Rapgef1 |
A |
C |
2: 29,569,210 (GRCm39) |
I43L |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,094,892 (GRCm39) |
T111A |
|
Het |
| Rptn |
GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA |
GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA |
3: 93,304,000 (GRCm39) |
|
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,894,811 (GRCm39) |
M287L |
probably benign |
Het |
| Speer4a2 |
T |
C |
5: 26,289,690 (GRCm39) |
S246G |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,416,049 (GRCm39) |
M470T |
probably benign |
Het |
| Tcf12 |
T |
C |
9: 71,922,933 (GRCm39) |
Y70C |
probably damaging |
Het |
| Tsc22d1 |
C |
T |
14: 76,654,460 (GRCm39) |
T313M |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,239 (GRCm39) |
M181K |
possibly damaging |
Het |
| Zbtb48 |
A |
T |
4: 152,106,567 (GRCm39) |
C345S |
probably damaging |
Het |
| Zfp628 |
G |
A |
7: 4,921,958 (GRCm39) |
R60Q |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,713 (GRCm39) |
S293P |
possibly damaging |
Het |
| Zkscan17 |
G |
A |
11: 59,393,770 (GRCm39) |
P183S |
probably benign |
Het |
| Zscan12 |
G |
T |
13: 21,547,897 (GRCm39) |
K26N |
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 |
|
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 |
|
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'- CTTAAACATCGCTGATTAAAACGGGAG -3'
(R):5'- AACCCTTCAGAGCAATTGGC -3'
Sequencing Primer
(F):5'- CACATGGAGTGGAAGGATCC -3'
(R):5'- AATTGGCTTGTTTTCTCCACAGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation