Incidental Mutation 'R1537:Atp8b1'
| ID |
169635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b1
|
| Ensembl Gene |
ENSMUSG00000039529 |
| Gene Name |
ATPase, class I, type 8B, member 1 |
| Synonyms |
Ic, FIC1 |
| MMRRC Submission |
039576-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1537 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64678335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 854
(V854M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025482
AA Change: V854M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: V854M
| 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 |
0.0915 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,372,124 (GRCm39) |
H86L |
possibly damaging |
Het |
| 4930519G04Rik |
A |
G |
5: 115,008,278 (GRCm39) |
T31A |
probably benign |
Het |
| Ahcyl1 |
A |
G |
3: 107,603,505 (GRCm39) |
F30S |
probably benign |
Het |
| Alox5ap |
G |
A |
5: 149,201,993 (GRCm39) |
|
probably null |
Het |
| Amtn |
A |
G |
5: 88,526,729 (GRCm39) |
S53G |
probably null |
Het |
| Arap3 |
A |
T |
18: 38,122,737 (GRCm39) |
|
probably null |
Het |
| Ash1l |
T |
A |
3: 88,979,783 (GRCm39) |
V2769E |
probably damaging |
Het |
| Bhlha9 |
C |
T |
11: 76,563,457 (GRCm39) |
S28L |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,180,169 (GRCm39) |
Y2150N |
probably damaging |
Het |
| Bmpr2 |
A |
G |
1: 59,907,285 (GRCm39) |
T793A |
probably benign |
Het |
| Ccdc80 |
G |
A |
16: 44,916,299 (GRCm39) |
A352T |
probably benign |
Het |
| Chst2 |
A |
T |
9: 95,288,194 (GRCm39) |
F51I |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,244,163 (GRCm39) |
N412S |
unknown |
Het |
| Dclk2 |
T |
C |
3: 86,713,491 (GRCm39) |
I451V |
probably damaging |
Het |
| Ddb2 |
A |
G |
2: 91,065,234 (GRCm39) |
S64P |
probably benign |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,748,504 (GRCm39) |
E870G |
probably damaging |
Het |
| Dusp4 |
G |
T |
8: 35,285,570 (GRCm39) |
R277L |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,301,931 (GRCm39) |
|
probably null |
Het |
| Gnpat |
A |
G |
8: 125,597,555 (GRCm39) |
E39G |
probably damaging |
Het |
| Golgb1 |
A |
T |
16: 36,719,150 (GRCm39) |
Q352L |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,345,096 (GRCm39) |
D803G |
probably benign |
Het |
| Hps1 |
A |
G |
19: 42,748,143 (GRCm39) |
|
probably null |
Het |
| Ilvbl |
G |
A |
10: 78,415,565 (GRCm39) |
R327H |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,333,121 (GRCm39) |
D1911G |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,166,700 (GRCm39) |
|
probably benign |
Het |
| Mcm10 |
G |
A |
2: 5,003,591 (GRCm39) |
T542I |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,051,772 (GRCm39) |
V497A |
probably damaging |
Het |
| Mn1 |
G |
A |
5: 111,602,646 (GRCm39) |
A1295T |
probably damaging |
Het |
| Myh7b |
A |
C |
2: 155,473,707 (GRCm39) |
D1580A |
probably damaging |
Het |
| Naa20 |
A |
G |
2: 145,754,438 (GRCm39) |
I101V |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,702,846 (GRCm39) |
Y229C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,891,575 (GRCm39) |
R6986G |
unknown |
Het |
| Or51h7 |
G |
A |
7: 102,591,547 (GRCm39) |
T79I |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,570 (GRCm39) |
I211V |
probably benign |
Het |
| P2rx3 |
A |
G |
2: 84,853,825 (GRCm39) |
|
probably null |
Het |
| Pcdhac2 |
G |
A |
18: 37,279,539 (GRCm39) |
G840R |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,762,489 (GRCm39) |
N3654S |
unknown |
Het |
| Pcnx2 |
T |
A |
8: 126,604,188 (GRCm39) |
E689D |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,804,464 (GRCm39) |
S532P |
probably benign |
Het |
| Phf1 |
G |
A |
17: 27,154,372 (GRCm39) |
|
probably null |
Het |
| Pkp4 |
G |
A |
2: 59,045,147 (GRCm39) |
V41M |
probably damaging |
Het |
| Prlr |
T |
G |
15: 10,328,364 (GRCm39) |
|
probably null |
Het |
| Prr12 |
G |
T |
7: 44,678,366 (GRCm39) |
A1954D |
unknown |
Het |
| Prtg |
A |
G |
9: 72,717,039 (GRCm39) |
T127A |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,552,698 (GRCm39) |
L884P |
probably damaging |
Het |
| Rnf170 |
T |
A |
8: 26,629,076 (GRCm39) |
D183E |
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,875,242 (GRCm39) |
H339Q |
probably damaging |
Het |
| Rubcnl |
T |
G |
14: 75,278,267 (GRCm39) |
S350R |
possibly damaging |
Het |
| Sgo2b |
T |
A |
8: 64,379,536 (GRCm39) |
T1099S |
possibly damaging |
Het |
| Ska2 |
T |
C |
11: 87,006,945 (GRCm39) |
S17P |
probably damaging |
Het |
| Slc38a2 |
A |
G |
15: 96,591,034 (GRCm39) |
I243T |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,916,034 (GRCm39) |
D2007E |
possibly damaging |
Het |
| Taar5 |
T |
A |
10: 23,846,620 (GRCm39) |
L6H |
probably benign |
Het |
| Tbata |
G |
T |
10: 61,019,270 (GRCm39) |
|
probably null |
Het |
| Tent2 |
C |
T |
13: 93,312,076 (GRCm39) |
G208D |
probably damaging |
Het |
| Tmem107 |
T |
C |
11: 68,963,284 (GRCm39) |
S98P |
probably damaging |
Het |
| Tpst2 |
A |
G |
5: 112,456,286 (GRCm39) |
D275G |
possibly damaging |
Het |
| Ttc28 |
G |
T |
5: 111,433,184 (GRCm39) |
G2073W |
probably damaging |
Het |
| Ttc7 |
T |
C |
17: 87,629,891 (GRCm39) |
V291A |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,792,327 (GRCm39) |
N2198K |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,887,039 (GRCm39) |
D249E |
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,340,357 (GRCm39) |
C866F |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,263,566 (GRCm39) |
E188G |
possibly damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,099,064 (GRCm39) |
S43P |
possibly damaging |
Het |
| Zscan5b |
A |
G |
7: 6,236,850 (GRCm39) |
R200G |
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 |
|
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 |
64,689,950 (GRCm39) |
nonsense |
probably null |
|
|
R4560:Atp8b1
|
UTSW |
18 |
64,701,318 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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'- CTATGATGCCTCAGTCCTGGCAAC -3'
(R):5'- CCCTCTGCTGTCACAGAATGAAATCC -3'
Sequencing Primer
(F):5'- TTCAGCAAGCTGGTGTCAC -3'
(R):5'- GAAGCTGAAGTTCCCAAGGA -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation