Incidental Mutation 'R7255:Atp8b1'
| ID |
564236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b1
|
| Ensembl Gene |
ENSMUSG00000039529 |
| Gene Name |
ATPase, class I, type 8B, member 1 |
| Synonyms |
Ic, FIC1 |
| MMRRC Submission |
045316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64689939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 598
(S598C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025482
AA Change: S598C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: S598C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (66/68) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
A |
G |
19: 20,692,092 (GRCm39) |
S234P |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,159,999 (GRCm39) |
H650R |
probably damaging |
Het |
| Asic1 |
A |
G |
15: 99,595,338 (GRCm39) |
D355G |
probably damaging |
Het |
| Bcat1 |
C |
A |
6: 144,978,511 (GRCm39) |
E237* |
probably null |
Het |
| Btbd16 |
A |
T |
7: 130,387,722 (GRCm39) |
I114F |
probably benign |
Het |
| Casp2 |
A |
G |
6: 42,245,841 (GRCm39) |
D166G |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,481,743 (GRCm39) |
T1099M |
probably damaging |
Het |
| Crisp4 |
C |
A |
1: 18,200,455 (GRCm39) |
A116S |
probably damaging |
Het |
| Cyb5r3 |
A |
G |
15: 83,044,366 (GRCm39) |
I168T |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,107,508 (GRCm39) |
D1407N |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,278,884 (GRCm39) |
K201R |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,520,816 (GRCm39) |
|
probably null |
Het |
| Dop1b |
C |
A |
16: 93,567,034 (GRCm39) |
H1272N |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,230,330 (GRCm39) |
R325Q |
probably benign |
Het |
| Enpp1 |
A |
T |
10: 24,521,213 (GRCm39) |
I838K |
possibly damaging |
Het |
| Fcna |
T |
G |
2: 25,516,040 (GRCm39) |
D159A |
probably damaging |
Het |
| Flnc |
G |
T |
6: 29,445,765 (GRCm39) |
G840C |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,517,216 (GRCm39) |
A1024T |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,212,514 (GRCm39) |
K207R |
probably null |
Het |
| Gbp2b |
T |
A |
3: 142,313,878 (GRCm39) |
L386Q |
probably damaging |
Het |
| Gm8297 |
T |
A |
14: 16,165,868 (GRCm39) |
N48K |
probably damaging |
Het |
| Gm9639 |
G |
A |
10: 77,630,372 (GRCm39) |
P180L |
unknown |
Het |
| Inpp5a |
A |
G |
7: 139,091,364 (GRCm39) |
N116S |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,313,726 (GRCm39) |
E984G |
probably benign |
Het |
| Klra4 |
A |
G |
6: 130,036,605 (GRCm39) |
F145L |
probably damaging |
Het |
| Lag3 |
A |
G |
6: 124,887,198 (GRCm39) |
L123P |
probably benign |
Het |
| Lyz3 |
T |
C |
10: 117,070,327 (GRCm39) |
H150R |
probably benign |
Het |
| Med7 |
T |
A |
11: 46,331,822 (GRCm39) |
M139K |
probably damaging |
Het |
| Mfsd2a |
A |
C |
4: 122,845,814 (GRCm39) |
L153R |
possibly damaging |
Het |
| Mup9 |
A |
G |
4: 60,377,336 (GRCm39) |
V71A |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,549,169 (GRCm39) |
Q927L |
unknown |
Het |
| Myo9b |
T |
C |
8: 71,743,535 (GRCm39) |
Y199H |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,353,449 (GRCm39) |
F406L |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,249,286 (GRCm39) |
L296Q |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,149 (GRCm39) |
F162I |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,441,929 (GRCm39) |
F173L |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,720,132 (GRCm39) |
D1205E |
probably benign |
Het |
| Plxna2 |
T |
G |
1: 194,434,411 (GRCm39) |
F646V |
probably benign |
Het |
| Pnrc1 |
C |
T |
4: 33,248,045 (GRCm39) |
G118D |
probably benign |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,311 (GRCm39) |
F412S |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,777,398 (GRCm39) |
V192E |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,527,973 (GRCm39) |
Y257H |
probably benign |
Het |
| Rfx7 |
T |
G |
9: 72,527,110 (GRCm39) |
S1433R |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Sanbr |
G |
A |
11: 23,570,465 (GRCm39) |
P145L |
probably benign |
Het |
| Sbspon |
G |
T |
1: 15,954,021 (GRCm39) |
C86* |
probably null |
Het |
| Sdhb |
A |
G |
4: 140,704,729 (GRCm39) |
E230G |
possibly damaging |
Het |
| Sema6b |
T |
C |
17: 56,432,336 (GRCm39) |
T581A |
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,042,173 (GRCm39) |
T594K |
possibly damaging |
Het |
| Shpk |
A |
G |
11: 73,090,486 (GRCm39) |
S48G |
probably benign |
Het |
| Slc1a3 |
A |
G |
15: 8,672,483 (GRCm39) |
V332A |
possibly damaging |
Het |
| Slc25a25 |
T |
C |
2: 32,311,384 (GRCm39) |
E135G |
possibly damaging |
Het |
| Slc5a8 |
A |
T |
10: 88,745,493 (GRCm39) |
D367V |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,515,051 (GRCm39) |
T649A |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats1 |
T |
A |
17: 45,765,131 (GRCm39) |
D163V |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,316,419 (GRCm39) |
M304K |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,929,232 (GRCm39) |
D166E |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,283,446 (GRCm39) |
S1540P |
probably damaging |
Het |
| Tcf7l1 |
A |
T |
6: 72,604,330 (GRCm39) |
|
probably null |
Het |
| Tet1 |
A |
T |
10: 62,658,415 (GRCm39) |
M1477K |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,801,881 (GRCm39) |
F395S |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,795,764 (GRCm39) |
L3847P |
probably damaging |
Het |
| Tsks |
C |
T |
7: 44,602,112 (GRCm39) |
S276L |
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,185,187 (GRCm39) |
E1519G |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,631,703 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,696,239 (GRCm39) |
V2768A |
|
Het |
| Wdr26 |
A |
C |
1: 181,008,889 (GRCm39) |
I627R |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,245,749 (GRCm39) |
S100T |
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 |
|
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'- TGTCACTGCCCTTGACACTG -3'
(R):5'- TCCCTCCTCAGGTCAGATCAAC -3'
Sequencing Primer
(F):5'- CAGCTGTCCGTGTGAGTAG -3'
(R):5'- GGTCAGATCAACTACCAGGCG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation