Incidental Mutation 'IGL02472:Atp8b2'
ID |
294784 |
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: 0.209)
|
Stock # |
IGL02472
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89861546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 267
(T267I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000168276]
[ENSMUST00000171422]
[ENSMUST00000168880]
[ENSMUST00000170696]
|
AlphaFold |
P98199 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069805
AA Change: T286I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063384 Gene: ENSMUSG00000060671 AA Change: T286I
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 |
probably damaging
Transcript: ENSMUST00000107396
AA Change: T267I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103019 Gene: ENSMUSG00000060671 AA Change: T267I
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 |
probably damaging
Transcript: ENSMUST00000168276
AA Change: T267I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128423 Gene: ENSMUSG00000060671 AA Change: T267I
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 |
noncoding transcript
Transcript: ENSMUST00000171818
|
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 |
|
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 |
probably benign
Transcript: ENSMUST00000170696
|
SMART Domains |
Protein: ENSMUSP00000126142 Gene: ENSMUSG00000060671
Domain | Start | End | E-Value | Type |
Pfam:E1-E2_ATPase
|
1 |
128 |
4.8e-9 |
PFAM |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
A |
G |
15: 76,834,578 (GRCm39) |
N158S |
probably damaging |
Het |
Ankrd17 |
A |
C |
5: 90,412,010 (GRCm39) |
L1285V |
probably damaging |
Het |
Becn1 |
C |
T |
11: 101,182,224 (GRCm39) |
G115D |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Chd6 |
A |
C |
2: 160,826,372 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,699,602 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,397,004 (GRCm39) |
I494V |
possibly damaging |
Het |
Dock2 |
T |
A |
11: 34,199,801 (GRCm39) |
E1416D |
probably benign |
Het |
Eif2ak1 |
A |
G |
5: 143,821,701 (GRCm39) |
H339R |
probably benign |
Het |
Espnl |
C |
T |
1: 91,268,256 (GRCm39) |
P294L |
probably benign |
Het |
Ftmt |
T |
A |
18: 52,464,912 (GRCm39) |
I76N |
possibly damaging |
Het |
Gorasp2 |
T |
G |
2: 70,506,803 (GRCm39) |
|
probably benign |
Het |
Hadhb |
T |
A |
5: 30,389,061 (GRCm39) |
M468K |
possibly damaging |
Het |
Hfm1 |
A |
G |
5: 107,021,794 (GRCm39) |
|
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,445,338 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,640,060 (GRCm39) |
F288I |
probably damaging |
Het |
Kcnv1 |
T |
A |
15: 44,972,519 (GRCm39) |
K455* |
probably null |
Het |
Kdm5a |
A |
G |
6: 120,383,691 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,747,958 (GRCm39) |
S3122F |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,490,817 (GRCm39) |
I440V |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,741,203 (GRCm39) |
I545F |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,195,789 (GRCm39) |
P1055L |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,755 (GRCm39) |
I195N |
probably benign |
Het |
Or5v1b |
C |
A |
17: 37,841,640 (GRCm39) |
F257L |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,609,270 (GRCm39) |
L65Q |
probably damaging |
Het |
Polr1g |
T |
C |
7: 19,093,030 (GRCm39) |
D50G |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,627,623 (GRCm39) |
I396V |
possibly damaging |
Het |
Ryr1 |
A |
T |
7: 28,740,269 (GRCm39) |
N3917K |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,582,658 (GRCm39) |
T80A |
probably damaging |
Het |
Sema3f |
C |
T |
9: 107,564,935 (GRCm39) |
E307K |
probably damaging |
Het |
Serpinb9b |
A |
T |
13: 33,223,953 (GRCm39) |
|
probably benign |
Het |
Siglec15 |
T |
A |
18: 78,086,832 (GRCm39) |
K342N |
possibly damaging |
Het |
Slc2a12 |
T |
C |
10: 22,541,054 (GRCm39) |
F303S |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,400,505 (GRCm39) |
V705A |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,423,383 (GRCm39) |
|
probably benign |
Het |
Tm6sf1 |
A |
T |
7: 81,525,572 (GRCm39) |
|
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,899,119 (GRCm39) |
Y269C |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,944,971 (GRCm39) |
I402T |
possibly damaging |
Het |
Ube4b |
A |
G |
4: 149,471,536 (GRCm39) |
|
probably null |
Het |
Usp28 |
T |
A |
9: 48,949,069 (GRCm39) |
Y863N |
possibly damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,058,960 (GRCm39) |
I534V |
probably benign |
Het |
Wdr89 |
A |
T |
12: 75,679,743 (GRCm39) |
D170E |
probably damaging |
Het |
Zfp280d |
C |
A |
9: 72,208,993 (GRCm39) |
N74K |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
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 |
IGL03349:Atp8b2
|
APN |
3 |
89,865,124 (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 |
2015-04-16 |