Incidental Mutation 'PIT4696001:Atp8b1'
ID |
556819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b1
|
Ensembl Gene |
ENSMUSG00000039529 |
Gene Name |
ATPase, class I, type 8B, member 1 |
Synonyms |
Ic, FIC1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4696001 (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 C
at 64672341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1008
(S1008G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025482]
|
AlphaFold |
Q148W0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025482
AA Change: S1008G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025482 Gene: ENSMUSG00000039529 AA Change: S1008G
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: 93.5%
- 3x: 91.0%
- 10x: 86.2%
- 20x: 75.9%
|
Validation Efficiency |
100% (57/57) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
G |
A |
7: 119,384,209 (GRCm39) |
|
probably null |
Het |
Adam20 |
T |
A |
8: 41,247,985 (GRCm39) |
Y32N |
probably benign |
Het |
Adm |
T |
C |
7: 110,227,496 (GRCm39) |
V4A |
probably benign |
Het |
Anpep |
G |
A |
7: 79,489,212 (GRCm39) |
T320I |
possibly damaging |
Het |
B9d1 |
T |
A |
11: 61,396,069 (GRCm39) |
M12K |
possibly damaging |
Het |
Cad |
T |
C |
5: 31,229,438 (GRCm39) |
L1435P |
probably damaging |
Het |
Cat |
T |
C |
2: 103,302,157 (GRCm39) |
D180G |
probably damaging |
Het |
Cntln |
C |
T |
4: 84,892,237 (GRCm39) |
T374M |
probably damaging |
Het |
Cyp2a5 |
G |
A |
7: 26,540,404 (GRCm39) |
R339Q |
probably benign |
Het |
Defa22 |
T |
C |
8: 21,652,352 (GRCm39) |
L6P |
probably damaging |
Het |
Dr1 |
T |
A |
5: 108,417,604 (GRCm39) |
I50K |
probably damaging |
Het |
Eln |
C |
T |
5: 134,766,032 (GRCm39) |
G57E |
unknown |
Het |
Fat4 |
T |
C |
3: 38,943,153 (GRCm39) |
I682T |
probably benign |
Het |
Fat4 |
C |
A |
3: 39,036,506 (GRCm39) |
A3386E |
probably damaging |
Het |
Fcgr3 |
T |
A |
1: 170,885,319 (GRCm39) |
Y102F |
probably damaging |
Het |
Gm5930 |
A |
T |
14: 44,573,993 (GRCm39) |
L115M |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,386,291 (GRCm39) |
V3748D |
probably damaging |
Het |
Ino80d |
A |
G |
1: 63,125,145 (GRCm39) |
S106P |
probably benign |
Het |
Kcns3 |
C |
T |
12: 11,142,749 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
T |
A |
7: 139,512,830 (GRCm39) |
L1527Q |
probably damaging |
Het |
Lepr |
T |
G |
4: 101,637,180 (GRCm39) |
S690A |
probably benign |
Het |
Lrfn5 |
T |
C |
12: 61,890,343 (GRCm39) |
F544S |
probably damaging |
Het |
Mapkap1 |
C |
A |
2: 34,509,861 (GRCm39) |
H450Q |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,994,445 (GRCm39) |
T485A |
probably benign |
Het |
Megf10 |
T |
C |
18: 57,410,760 (GRCm39) |
C690R |
probably damaging |
Het |
Myo7a |
A |
G |
7: 97,712,806 (GRCm39) |
M1723T |
probably benign |
Het |
Nrip3 |
A |
T |
7: 109,364,714 (GRCm39) |
C137* |
probably null |
Het |
Or5w22 |
T |
A |
2: 87,363,124 (GRCm39) |
I249N |
probably damaging |
Het |
Pde4a |
T |
A |
9: 21,122,297 (GRCm39) |
M731K |
probably benign |
Het |
Pebp1 |
A |
G |
5: 117,421,527 (GRCm39) |
L117P |
probably damaging |
Het |
Phc2 |
T |
C |
4: 128,598,995 (GRCm39) |
Y51H |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,284,713 (GRCm39) |
F50S |
probably benign |
Het |
Prpf4b |
A |
G |
13: 35,083,825 (GRCm39) |
S865G |
probably benign |
Het |
Ptpn5 |
C |
T |
7: 46,738,354 (GRCm39) |
V243M |
probably benign |
Het |
Rora |
T |
C |
9: 69,271,841 (GRCm39) |
L273P |
possibly damaging |
Het |
Rtp4 |
T |
A |
16: 23,432,204 (GRCm39) |
S245R |
probably benign |
Het |
Scgb2b20 |
C |
T |
7: 33,063,985 (GRCm39) |
G95D |
probably benign |
Het |
Sec24b |
A |
G |
3: 129,788,040 (GRCm39) |
V820A |
probably benign |
Het |
Sim2 |
A |
G |
16: 93,895,168 (GRCm39) |
D62G |
possibly damaging |
Het |
Slc17a4 |
A |
T |
13: 24,084,497 (GRCm39) |
V429D |
probably benign |
Het |
Sp2 |
T |
C |
11: 96,852,799 (GRCm39) |
T42A |
probably damaging |
Het |
Spata3 |
G |
A |
1: 85,952,169 (GRCm39) |
R141Q |
unknown |
Het |
Sptbn2 |
A |
T |
19: 4,795,605 (GRCm39) |
E1658D |
probably benign |
Het |
Tcaf1 |
T |
C |
6: 42,655,473 (GRCm39) |
H501R |
probably benign |
Het |
Tec |
G |
A |
5: 72,931,178 (GRCm39) |
T262M |
possibly damaging |
Het |
Timm9 |
A |
T |
12: 71,172,305 (GRCm39) |
N22K |
possibly damaging |
Het |
Tln1 |
C |
T |
4: 43,542,701 (GRCm39) |
|
probably null |
Het |
Tmbim4 |
A |
G |
10: 120,053,529 (GRCm39) |
I109M |
probably benign |
Het |
Tmc7 |
T |
C |
7: 118,163,566 (GRCm39) |
K110E |
probably benign |
Het |
Tmem107 |
C |
T |
11: 68,963,399 (GRCm39) |
P136L |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,061,563 (GRCm39) |
|
probably null |
Het |
Ubd |
A |
C |
17: 37,506,335 (GRCm39) |
T74P |
probably damaging |
Het |
Vps11 |
A |
G |
9: 44,269,486 (GRCm39) |
V255A |
possibly damaging |
Het |
Vsnl1 |
T |
C |
12: 11,376,448 (GRCm39) |
T146A |
probably benign |
Het |
Wdr38 |
G |
T |
2: 38,889,984 (GRCm39) |
|
probably null |
Het |
Yes1 |
T |
A |
5: 32,841,969 (GRCm39) |
S498T |
possibly damaging |
Het |
Zc3h13 |
G |
A |
14: 75,569,323 (GRCm39) |
R1390H |
probably damaging |
Het |
Zscan4b |
A |
G |
7: 10,635,949 (GRCm39) |
V126A |
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 |
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 |
64,689,950 (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'- AGTTGACCGTTATCACTAGAGCG -3'
(R):5'- CAAAGCTTGCCTGACCTCTG -3'
Sequencing Primer
(F):5'- TTATCACTAGAGCGGAGGCCAC -3'
(R):5'- TCTGCACACAAAGATACTGGTCAGG -3'
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Posted On |
2019-06-07 |