Incidental Mutation 'IGL03349:Atp8b2'
| ID |
419593 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
IGL03349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89865124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 163
(F163I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000168276]
[ENSMUST00000168880]
[ENSMUST00000170696]
[ENSMUST00000171422]
|
| AlphaFold |
P98199 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069805
AA Change: F163I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: F163I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
96 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
103 |
374 |
5.6e-18 |
PFAM |
|
Pfam:HAD
|
408 |
842 |
1.3e-17 |
PFAM |
|
Pfam:Hydrolase_like2
|
491 |
590 |
1e-11 |
PFAM |
|
Pfam:Hydrolase
|
590 |
845 |
7.9e-8 |
PFAM |
|
low complexity region
|
1133 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107396
AA Change: F144I
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: F144I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
15 |
81 |
1.3e-29 |
PFAM |
|
Pfam:E1-E2_ATPase
|
81 |
351 |
2.7e-9 |
PFAM |
|
Pfam:HAD
|
389 |
847 |
1.5e-17 |
PFAM |
|
Pfam:Cation_ATPase
|
472 |
571 |
4.3e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
864 |
1118 |
2e-84 |
PFAM |
|
low complexity region
|
1138 |
1152 |
N/A |
INTRINSIC |
|
low complexity region
|
1172 |
1195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166705
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168276
AA Change: F144I
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: F144I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
84 |
355 |
2.5e-18 |
PFAM |
|
Pfam:HAD
|
389 |
823 |
7.9e-18 |
PFAM |
|
Pfam:Hydrolase_like2
|
472 |
571 |
3.6e-12 |
PFAM |
|
Pfam:Hydrolase
|
571 |
826 |
6.5e-8 |
PFAM |
|
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168880
|
| SMART Domains |
Protein: ENSMUSP00000128726
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170696
AA Change: F16I
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126142
Gene: ENSMUSG00000060671
AA Change: F16I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1-E2_ATPase
|
1 |
128 |
4.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171422
|
| SMART Domains |
Protein: ENSMUSP00000129641
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,455 (GRCm39) |
Y3648H |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,558,249 (GRCm39) |
R172* |
probably null |
Het |
| Apba1 |
A |
T |
19: 23,894,939 (GRCm39) |
E458D |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,308,054 (GRCm39) |
V1590D |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,489 (GRCm39) |
S332P |
probably benign |
Het |
| Azin2 |
A |
T |
4: 128,839,907 (GRCm39) |
Y228* |
probably null |
Het |
| Cd109 |
C |
T |
9: 78,543,767 (GRCm39) |
H104Y |
probably benign |
Het |
| Ces2a |
G |
T |
8: 105,460,712 (GRCm39) |
L3F |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,935,222 (GRCm39) |
V889A |
possibly damaging |
Het |
| Crim1 |
A |
T |
17: 78,662,579 (GRCm39) |
K801* |
probably null |
Het |
| Cxcr1 |
T |
C |
1: 74,231,687 (GRCm39) |
T112A |
possibly damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,587,158 (GRCm39) |
S378P |
possibly damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,632,128 (GRCm39) |
Y80C |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,796,256 (GRCm39) |
W761R |
probably damaging |
Het |
| Dgki |
C |
T |
6: 37,074,562 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
T |
C |
14: 7,984,146 (GRCm38) |
T89A |
probably benign |
Het |
| Dock4 |
C |
A |
12: 40,783,309 (GRCm39) |
Q748K |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 106,033,020 (GRCm39) |
E68G |
possibly damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,886,654 (GRCm39) |
E692* |
probably null |
Het |
| Fkbp9 |
T |
A |
6: 56,826,703 (GRCm39) |
M101K |
probably damaging |
Het |
| Grin1 |
C |
A |
2: 25,200,448 (GRCm39) |
V225L |
probably benign |
Het |
| Gucy2d |
T |
C |
7: 98,099,048 (GRCm39) |
V288A |
possibly damaging |
Het |
| Heatr5b |
C |
A |
17: 79,062,749 (GRCm39) |
K1933N |
probably benign |
Het |
| Hsdl1 |
A |
T |
8: 120,292,436 (GRCm39) |
S260T |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,287,833 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,441,474 (GRCm39) |
V220E |
probably benign |
Het |
| Igkv12-47 |
C |
T |
6: 69,727,850 (GRCm39) |
|
noncoding transcript |
Het |
| Ism1 |
C |
T |
2: 139,573,895 (GRCm39) |
R82* |
probably null |
Het |
| Lrch3 |
A |
G |
16: 32,775,694 (GRCm39) |
T187A |
probably damaging |
Het |
| Ltbr |
T |
A |
6: 125,289,329 (GRCm39) |
D160V |
probably damaging |
Het |
| Lypd11 |
T |
A |
7: 24,422,261 (GRCm39) |
S163C |
probably damaging |
Het |
| Mark3 |
A |
T |
12: 111,594,684 (GRCm39) |
K353I |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,140,772 (GRCm39) |
H260L |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,355,904 (GRCm39) |
Q627R |
probably benign |
Het |
| Neb |
T |
A |
2: 52,168,964 (GRCm39) |
Y1857F |
possibly damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,142,295 (GRCm39) |
T29A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,226,228 (GRCm39) |
G768D |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,323 (GRCm39) |
M204V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,179,551 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,734,313 (GRCm39) |
Q393L |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,065 (GRCm39) |
I335V |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,100,710 (GRCm39) |
I2071M |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,331 (GRCm39) |
V807E |
probably damaging |
Het |
| Rnf20 |
G |
A |
4: 49,655,936 (GRCm39) |
A961T |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,056,865 (GRCm39) |
Q126R |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,237,696 (GRCm39) |
Y382N |
probably damaging |
Het |
| Snrpn |
C |
T |
7: 59,635,613 (GRCm39) |
G129D |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,984,335 (GRCm39) |
N386I |
possibly damaging |
Het |
| Ssna1 |
T |
C |
2: 25,161,542 (GRCm39) |
N102D |
possibly damaging |
Het |
| Tex21 |
A |
T |
12: 76,268,365 (GRCm39) |
I139N |
probably benign |
Het |
| Trgc2 |
T |
A |
13: 19,489,346 (GRCm39) |
T129S |
probably benign |
Het |
| Trim21 |
T |
C |
7: 102,212,484 (GRCm39) |
T161A |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,703 (GRCm39) |
H96Q |
probably benign |
Het |
|
| Other mutations in Atp8b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Atp8b2
|
APN |
3 |
89,857,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Atp8b2
|
APN |
3 |
89,861,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02651:Atp8b2
|
APN |
3 |
89,861,896 (GRCm39) |
splice site |
probably null |
|
|
IGL03057:Atp8b2
|
APN |
3 |
89,851,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Atp8b2
|
APN |
3 |
89,855,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Atp8b2
|
UTSW |
3 |
89,866,368 (GRCm39) |
splice site |
probably benign |
|
|
R0784:Atp8b2
|
UTSW |
3 |
89,864,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1249:Atp8b2
|
UTSW |
3 |
89,855,111 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1447:Atp8b2
|
UTSW |
3 |
89,851,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Atp8b2
|
UTSW |
3 |
89,857,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1647:Atp8b2
|
UTSW |
3 |
89,849,091 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1736:Atp8b2
|
UTSW |
3 |
89,860,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1907:Atp8b2
|
UTSW |
3 |
89,853,583 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2656:Atp8b2
|
UTSW |
3 |
89,849,065 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2888:Atp8b2
|
UTSW |
3 |
89,865,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Atp8b2
|
UTSW |
3 |
89,852,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3708:Atp8b2
|
UTSW |
3 |
89,852,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3740:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3741:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3742:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3896:Atp8b2
|
UTSW |
3 |
89,864,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3914:Atp8b2
|
UTSW |
3 |
89,861,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4536:Atp8b2
|
UTSW |
3 |
89,849,091 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4770:Atp8b2
|
UTSW |
3 |
89,864,374 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4859:Atp8b2
|
UTSW |
3 |
89,853,287 (GRCm39) |
missense |
probably benign |
|
|
R4905:Atp8b2
|
UTSW |
3 |
89,856,315 (GRCm39) |
missense |
probably benign |
|
|
R4925:Atp8b2
|
UTSW |
3 |
89,853,930 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4955:Atp8b2
|
UTSW |
3 |
89,860,227 (GRCm39) |
unclassified |
probably benign |
|
|
R5433:Atp8b2
|
UTSW |
3 |
89,860,216 (GRCm39) |
unclassified |
probably benign |
|
|
R5458:Atp8b2
|
UTSW |
3 |
89,853,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5517:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R5663:Atp8b2
|
UTSW |
3 |
89,849,101 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6056:Atp8b2
|
UTSW |
3 |
89,853,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6821:Atp8b2
|
UTSW |
3 |
89,855,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7069:Atp8b2
|
UTSW |
3 |
89,861,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Atp8b2
|
UTSW |
3 |
89,850,979 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7533:Atp8b2
|
UTSW |
3 |
89,852,831 (GRCm39) |
missense |
|
|
|
R7552:Atp8b2
|
UTSW |
3 |
89,854,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Atp8b2
|
UTSW |
3 |
89,853,527 (GRCm39) |
unclassified |
probably benign |
|
|
R8491:Atp8b2
|
UTSW |
3 |
89,865,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Atp8b2
|
UTSW |
3 |
89,853,307 (GRCm39) |
missense |
|
|
|
R8913:Atp8b2
|
UTSW |
3 |
89,852,830 (GRCm39) |
missense |
|
|
|
R8996:Atp8b2
|
UTSW |
3 |
89,850,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Atp8b2
|
UTSW |
3 |
89,865,927 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9341:Atp8b2
|
UTSW |
3 |
89,855,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9343:Atp8b2
|
UTSW |
3 |
89,855,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9439:Atp8b2
|
UTSW |
3 |
89,851,492 (GRCm39) |
missense |
|
|
|
R9466:Atp8b2
|
UTSW |
3 |
89,851,484 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9590:Atp8b2
|
UTSW |
3 |
89,865,693 (GRCm39) |
nonsense |
probably null |
|
|
R9651:Atp8b2
|
UTSW |
3 |
89,865,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9739:Atp8b2
|
UTSW |
3 |
89,853,403 (GRCm39) |
missense |
probably benign |
|
|
R9778:Atp8b2
|
UTSW |
3 |
89,861,865 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Atp8b2
|
UTSW |
3 |
89,861,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation