Incidental Mutation 'R5328:Atp8b1'
ID |
422192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b1
|
Ensembl Gene |
ENSMUSG00000039529 |
Gene Name |
ATPase, class I, type 8B, member 1 |
Synonyms |
Ic, FIC1 |
MMRRC Submission |
042843-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5328 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64664462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1235
(D1235E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
AlphaFold |
Q148W0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025482
AA Change: D1235E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000025482 Gene: ENSMUSG00000039529 AA Change: D1235E
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: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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 |
Abcb1b |
T |
A |
5: 8,887,694 (GRCm39) |
V860E |
possibly damaging |
Het |
Abcc6 |
T |
C |
7: 45,641,735 (GRCm39) |
D881G |
probably benign |
Het |
Abcc9 |
A |
G |
6: 142,627,785 (GRCm39) |
V415A |
probably benign |
Het |
Adgrb3 |
A |
C |
1: 25,133,356 (GRCm39) |
N1003K |
possibly damaging |
Het |
Adora3 |
C |
T |
3: 105,814,619 (GRCm39) |
T123I |
probably benign |
Het |
Amotl2 |
A |
C |
9: 102,600,967 (GRCm39) |
T345P |
probably benign |
Het |
Arap3 |
C |
T |
18: 38,124,740 (GRCm39) |
E247K |
possibly damaging |
Het |
Axl |
A |
T |
7: 25,472,836 (GRCm39) |
V400E |
probably damaging |
Het |
Brd8 |
T |
A |
18: 34,741,034 (GRCm39) |
N431Y |
probably benign |
Het |
Cadps |
A |
T |
14: 12,457,790 (GRCm38) |
N1025K |
probably benign |
Het |
Cblc |
A |
T |
7: 19,526,505 (GRCm39) |
S195T |
possibly damaging |
Het |
Chd2 |
C |
T |
7: 73,113,429 (GRCm39) |
A1184T |
possibly damaging |
Het |
Chst10 |
G |
A |
1: 38,935,043 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,527,342 (GRCm39) |
K2663E |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,140 (GRCm39) |
I292L |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,485,251 (GRCm39) |
V294A |
probably damaging |
Het |
Cyp2d11 |
G |
A |
15: 82,275,972 (GRCm39) |
P203L |
probably benign |
Het |
Dnaaf10 |
C |
A |
11: 17,172,220 (GRCm39) |
P103Q |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
Eif3l |
A |
T |
15: 78,977,561 (GRCm39) |
K534* |
probably null |
Het |
Enpep |
T |
C |
3: 129,074,159 (GRCm39) |
E796G |
probably benign |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Fam117a |
T |
A |
11: 95,254,996 (GRCm39) |
|
probably null |
Het |
Fan1 |
A |
T |
7: 64,004,217 (GRCm39) |
Y750N |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,011,017 (GRCm39) |
I2039N |
probably damaging |
Het |
Gabrr2 |
G |
T |
4: 33,082,565 (GRCm39) |
D106Y |
probably damaging |
Het |
Gak |
A |
C |
5: 108,764,867 (GRCm39) |
C145G |
possibly damaging |
Het |
Galnt14 |
A |
T |
17: 73,812,454 (GRCm39) |
N406K |
possibly damaging |
Het |
Gm10439 |
T |
G |
X: 148,419,159 (GRCm39) |
*434E |
probably null |
Het |
Gm10837 |
G |
T |
14: 122,728,190 (GRCm39) |
R22L |
unknown |
Het |
Gm19965 |
T |
A |
1: 116,749,148 (GRCm39) |
H276Q |
possibly damaging |
Het |
Gm43517 |
T |
C |
12: 49,437,939 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
T |
18: 10,553,720 (GRCm39) |
I1574F |
probably damaging |
Het |
Gzme |
G |
A |
14: 56,355,224 (GRCm39) |
H236Y |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,133,791 (GRCm39) |
T266I |
possibly damaging |
Het |
Hk3 |
T |
C |
13: 55,161,306 (GRCm39) |
I185V |
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,066,527 (GRCm39) |
E302G |
probably benign |
Het |
Itgal |
T |
C |
7: 126,910,847 (GRCm39) |
|
probably null |
Het |
Itk |
A |
G |
11: 46,222,703 (GRCm39) |
S583P |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,498,268 (GRCm39) |
I1448F |
probably damaging |
Het |
Macf1 |
GCCCCC |
GCCCCCC |
4: 123,244,784 (GRCm39) |
|
probably null |
Het |
Man2a2 |
A |
T |
7: 80,018,504 (GRCm39) |
F118L |
probably benign |
Het |
Mfsd5 |
T |
A |
15: 102,189,447 (GRCm39) |
V273E |
probably damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,507,200 (GRCm39) |
L300P |
probably damaging |
Het |
Nt5c1a |
T |
G |
4: 123,102,786 (GRCm39) |
L122R |
possibly damaging |
Het |
Nt5c3b |
A |
G |
11: 100,331,067 (GRCm39) |
F42S |
probably damaging |
Het |
Or2av9 |
C |
A |
11: 58,381,255 (GRCm39) |
A109S |
possibly damaging |
Het |
Or51g2 |
T |
A |
7: 102,623,175 (GRCm39) |
N8I |
possibly damaging |
Het |
Pabpc1 |
A |
T |
15: 36,603,121 (GRCm39) |
D204E |
probably benign |
Het |
Panx2 |
A |
G |
15: 88,952,298 (GRCm39) |
N255S |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,247,553 (GRCm39) |
L993P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,879,418 (GRCm39) |
C1160S |
probably damaging |
Het |
Plekhh3 |
T |
A |
11: 101,058,484 (GRCm39) |
|
probably benign |
Het |
Plod3 |
T |
A |
5: 137,018,537 (GRCm39) |
N258K |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,987,365 (GRCm39) |
Q710R |
probably benign |
Het |
Rnf216 |
G |
T |
5: 143,078,754 (GRCm39) |
T65K |
possibly damaging |
Het |
Samd9l |
T |
C |
6: 3,376,739 (GRCm39) |
E174G |
probably damaging |
Het |
Septin12 |
T |
A |
16: 4,811,857 (GRCm39) |
M63L |
possibly damaging |
Het |
Sh3bgrl2 |
T |
A |
9: 83,459,509 (GRCm39) |
D22E |
probably benign |
Het |
Sirpd |
T |
C |
3: 15,397,234 (GRCm39) |
M17V |
unknown |
Het |
Skil |
A |
G |
3: 31,171,718 (GRCm39) |
K488R |
probably benign |
Het |
Slamf6 |
T |
A |
1: 171,765,662 (GRCm39) |
I262K |
probably benign |
Het |
Slc27a3 |
T |
C |
3: 90,294,139 (GRCm39) |
D470G |
probably damaging |
Het |
Sorbs3 |
A |
T |
14: 70,418,623 (GRCm39) |
V680E |
probably damaging |
Het |
Sox9 |
C |
T |
11: 112,673,484 (GRCm39) |
T25I |
probably benign |
Het |
Srsf1 |
G |
T |
11: 87,940,819 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
C |
2: 120,529,711 (GRCm39) |
E1989D |
probably damaging |
Het |
Thumpd2 |
T |
A |
17: 81,351,591 (GRCm39) |
I277F |
possibly damaging |
Het |
Tinag |
C |
A |
9: 76,912,913 (GRCm39) |
G299* |
probably null |
Het |
Tk2 |
A |
T |
8: 104,955,931 (GRCm39) |
|
probably null |
Het |
Tmem44 |
A |
G |
16: 30,359,709 (GRCm39) |
S210P |
possibly damaging |
Het |
Traf3ip1 |
C |
A |
1: 91,447,791 (GRCm39) |
P423T |
probably damaging |
Het |
Trmt12 |
A |
G |
15: 58,744,704 (GRCm39) |
D34G |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,180,178 (GRCm39) |
Y72H |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,708,755 (GRCm39) |
|
probably benign |
Het |
Ttyh2 |
T |
A |
11: 114,600,894 (GRCm39) |
I381N |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,777,814 (GRCm39) |
N734Y |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,414,616 (GRCm39) |
I2853T |
probably benign |
Het |
Usp34 |
G |
A |
11: 23,438,659 (GRCm39) |
G3407D |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,570,238 (GRCm39) |
Y252C |
probably damaging |
Het |
Wdr19 |
G |
A |
5: 65,401,522 (GRCm39) |
C979Y |
probably damaging |
Het |
Yeats2 |
A |
T |
16: 19,989,955 (GRCm39) |
H277L |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,319,267 (GRCm39) |
Y253C |
possibly damaging |
Het |
Zfat |
C |
A |
15: 68,051,677 (GRCm39) |
G706C |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,350,898 (GRCm39) |
N1584K |
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 |
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'- GGCTTTGCGATTGCTTAACAG -3'
(R):5'- TCTCCAGATCCAGAAGCATCG -3'
Sequencing Primer
(F):5'- ACAGCACAATCCTAGAAGTTTATTG -3'
(R):5'- TCCAGAAGCATCGAAAGCG -3'
|
Posted On |
2016-08-04 |