Incidental Mutation 'R6315:Atp8b1'
| ID |
510624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b1
|
| Ensembl Gene |
ENSMUSG00000039529 |
| Gene Name |
ATPase, class I, type 8B, member 1 |
| Synonyms |
Ic, FIC1 |
| MMRRC Submission |
044472-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
64662050-64794342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 64664550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1206
(R1206L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
| AlphaFold |
Q148W0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025482
AA Change: R1206L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: R1206L
| 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 |
0.2774 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (64/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,945,315 (GRCm39) |
Y464H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,983,990 (GRCm39) |
M1758T |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,282,837 (GRCm39) |
D1201V |
possibly damaging |
Het |
| Amdhd2 |
A |
C |
17: 24,377,330 (GRCm39) |
H203Q |
probably benign |
Het |
| Ano3 |
A |
G |
2: 110,527,384 (GRCm39) |
M608T |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| B4galt5 |
A |
T |
2: 167,147,729 (GRCm39) |
N215K |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,987,996 (GRCm39) |
K180E |
possibly damaging |
Het |
| Cadm1 |
C |
T |
9: 47,721,417 (GRCm39) |
T269M |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,171,919 (GRCm39) |
D252G |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,309,448 (GRCm39) |
R348G |
probably benign |
Het |
| Cers4 |
G |
A |
8: 4,566,980 (GRCm39) |
C94Y |
probably benign |
Het |
| Cfap58 |
G |
A |
19: 47,929,716 (GRCm39) |
R59H |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,565,533 (GRCm39) |
G266D |
unknown |
Het |
| Col6a5 |
G |
T |
9: 105,759,169 (GRCm39) |
F2012L |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,168,588 (GRCm39) |
Q445R |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,657,643 (GRCm39) |
S238G |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,691,132 (GRCm39) |
S322N |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,057,114 (GRCm39) |
D57G |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,188,025 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,669,218 (GRCm39) |
C77* |
probably null |
Het |
| Fgb |
T |
A |
3: 82,952,362 (GRCm39) |
Q169L |
probably benign |
Het |
| Fut9 |
A |
T |
4: 25,619,774 (GRCm39) |
Y347N |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,862,688 (GRCm39) |
K132R |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,874,995 (GRCm39) |
L1833P |
probably damaging |
Het |
| Hk3 |
C |
T |
13: 55,158,970 (GRCm39) |
D484N |
probably benign |
Het |
| Icam4 |
T |
C |
9: 20,941,248 (GRCm39) |
V129A |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,440,638 (GRCm39) |
S280P |
possibly damaging |
Het |
| Impg1 |
C |
A |
9: 80,301,356 (GRCm39) |
G267V |
probably benign |
Het |
| Iqgap1 |
C |
T |
7: 80,449,638 (GRCm39) |
V39M |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,818,089 (GRCm39) |
N1253S |
probably benign |
Het |
| Mgat4b |
T |
A |
11: 50,122,591 (GRCm39) |
V195E |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,983 (GRCm39) |
T218I |
probably damaging |
Het |
| Myrfl |
T |
G |
10: 116,658,724 (GRCm39) |
E411A |
possibly damaging |
Het |
| Myt1l |
T |
C |
12: 29,877,797 (GRCm39) |
S483P |
unknown |
Het |
| Neil2 |
A |
G |
14: 63,420,920 (GRCm39) |
V80A |
possibly damaging |
Het |
| Nfe2l2 |
G |
T |
2: 75,507,163 (GRCm39) |
D312E |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,092,389 (GRCm39) |
L640Q |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,213,804 (GRCm39) |
I1732N |
probably damaging |
Het |
| Nup42 |
T |
C |
5: 24,372,502 (GRCm39) |
S97P |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,769 (GRCm39) |
C148R |
unknown |
Het |
| Or5k16 |
A |
C |
16: 58,736,609 (GRCm39) |
Y132D |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,188,261 (GRCm39) |
T785S |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Ppp1r1b |
A |
G |
11: 98,246,216 (GRCm39) |
E66G |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,994,306 (GRCm39) |
W1325R |
probably benign |
Het |
| Sec14l5 |
A |
C |
16: 4,998,141 (GRCm39) |
E500A |
possibly damaging |
Het |
| Sirpb1c |
A |
G |
3: 15,886,470 (GRCm39) |
V302A |
possibly damaging |
Het |
| Spata19 |
T |
C |
9: 27,312,133 (GRCm39) |
Y107H |
possibly damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,502 (GRCm39) |
M298I |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,937,229 (GRCm39) |
M1273K |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,179,904 (GRCm39) |
H250R |
possibly damaging |
Het |
| Trip11 |
T |
G |
12: 101,851,837 (GRCm39) |
E742D |
possibly damaging |
Het |
| Tslp |
A |
G |
18: 32,950,143 (GRCm39) |
T71A |
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,907,770 (GRCm39) |
R711C |
possibly damaging |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,949,757 (GRCm39) |
F363L |
probably benign |
Het |
| Vsnl1 |
T |
A |
12: 11,382,156 (GRCm39) |
N75I |
probably damaging |
Het |
| Wdr55 |
A |
T |
18: 36,895,122 (GRCm39) |
D96V |
probably damaging |
Het |
| Wls |
T |
A |
3: 159,640,007 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,546,355 (GRCm39) |
D152G |
probably damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,110,604 (GRCm39) |
E151G |
probably benign |
Het |
| Zfat |
A |
G |
15: 67,956,311 (GRCm39) |
S1174P |
probably damaging |
Het |
| Zfyve9 |
T |
A |
4: 108,531,685 (GRCm39) |
T416S |
probably 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 |
|
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 |
|
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'- CAGTGACAACTTCAGTTTGTTTGTG -3'
(R):5'- TGCATAAGGGTGTAAAGGCTCTC -3'
Sequencing Primer
(F):5'- AGGTCCTGAGTCGTTCATTAAAG -3'
(R):5'- TGTAAAGGCTCTCCGCGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation