Incidental Mutation 'R9154:Atp8b5'
ID |
695213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b5
|
Ensembl Gene |
ENSMUSG00000028457 |
Gene Name |
ATPase, class I, type 8B, member 5 |
Synonyms |
4930417M19Rik, FetA |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R9154 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
43267159-43373833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43372630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1090
(I1090T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107937]
[ENSMUST00000107942]
|
AlphaFold |
A3FIN4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107937
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107942
AA Change: I1090T
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103575 Gene: ENSMUSG00000028457 AA Change: I1090T
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
38 |
104 |
1.8e-26 |
PFAM |
Pfam:E1-E2_ATPase
|
103 |
375 |
4.9e-9 |
PFAM |
Pfam:HAD
|
413 |
847 |
2e-18 |
PFAM |
Pfam:Cation_ATPase
|
495 |
594 |
1e-9 |
PFAM |
Pfam:PhoLip_ATPase_C
|
864 |
1118 |
2.6e-77 |
PFAM |
low complexity region
|
1171 |
1180 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
T |
C |
6: 91,926,926 (GRCm39) |
V862A |
probably benign |
Het |
A2m |
A |
T |
6: 121,645,512 (GRCm39) |
K1019M |
probably damaging |
Het |
Acot6 |
G |
T |
12: 84,147,789 (GRCm39) |
W15L |
possibly damaging |
Het |
Adam32 |
CCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAG |
8: 25,438,769 (GRCm39) |
|
probably benign |
Het |
Adnp |
C |
A |
2: 168,026,580 (GRCm39) |
Q238H |
possibly damaging |
Het |
Akap7 |
T |
C |
10: 25,047,053 (GRCm39) |
Y281C |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,605,387 (GRCm39) |
E1085G |
probably damaging |
Het |
Arhgef38 |
A |
T |
3: 132,837,924 (GRCm39) |
S669T |
unknown |
Het |
Atp8b2 |
A |
T |
3: 89,865,927 (GRCm39) |
S50R |
possibly damaging |
Het |
Ccdc198 |
A |
T |
14: 49,473,367 (GRCm39) |
H129Q |
probably benign |
Het |
Chrna4 |
G |
A |
2: 180,670,602 (GRCm39) |
R385C |
probably damaging |
Het |
Col4a1 |
T |
A |
8: 11,267,446 (GRCm39) |
I1105F |
probably damaging |
Het |
Crybg2 |
G |
A |
4: 133,792,620 (GRCm39) |
R85Q |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,798,287 (GRCm39) |
L1434Q |
|
Het |
Cyp3a13 |
T |
C |
5: 137,919,758 (GRCm39) |
N6S |
probably benign |
Het |
Dnase2b |
A |
T |
3: 146,299,326 (GRCm39) |
Y42* |
probably null |
Het |
F11r |
A |
G |
1: 171,289,376 (GRCm39) |
E233G |
probably damaging |
Het |
Fip1l1 |
T |
C |
5: 74,747,703 (GRCm39) |
I390T |
possibly damaging |
Het |
Fiz1 |
G |
A |
7: 5,011,280 (GRCm39) |
R413C |
probably damaging |
Het |
Fus |
G |
A |
7: 127,580,440 (GRCm39) |
G450E |
unknown |
Het |
Gm11569 |
C |
A |
11: 99,689,267 (GRCm39) |
C144F |
unknown |
Het |
Gm7298 |
A |
T |
6: 121,756,436 (GRCm39) |
Y1027F |
probably damaging |
Het |
Grik5 |
C |
A |
7: 24,758,403 (GRCm39) |
W340L |
probably damaging |
Het |
H1f2 |
A |
G |
13: 23,923,373 (GRCm39) |
K181R |
unknown |
Het |
Hectd4 |
G |
A |
5: 121,391,967 (GRCm39) |
R77H |
|
Het |
Ift81 |
C |
A |
5: 122,689,122 (GRCm39) |
V665L |
probably benign |
Het |
Ints2 |
A |
G |
11: 86,125,524 (GRCm39) |
F559L |
probably damaging |
Het |
Kdm8 |
G |
A |
7: 125,054,296 (GRCm39) |
V176I |
probably benign |
Het |
Keap1 |
A |
T |
9: 21,142,121 (GRCm39) |
Y584* |
probably null |
Het |
Klra1 |
T |
C |
6: 130,357,607 (GRCm39) |
T7A |
|
Het |
Lmo7 |
T |
A |
14: 102,122,743 (GRCm39) |
W311R |
probably damaging |
Het |
Lrp6 |
A |
G |
6: 134,518,855 (GRCm39) |
V70A |
probably damaging |
Het |
Luc7l3 |
A |
T |
11: 94,190,793 (GRCm39) |
S174T |
unknown |
Het |
Madd |
T |
C |
2: 90,998,162 (GRCm39) |
T653A |
probably damaging |
Het |
Mlph |
G |
T |
1: 90,855,716 (GRCm39) |
G41V |
probably damaging |
Het |
Mov10l1 |
A |
G |
15: 88,896,118 (GRCm39) |
E654G |
possibly damaging |
Het |
Mpp3 |
T |
C |
11: 101,911,328 (GRCm39) |
I165V |
|
Het |
Mrgpra2a |
T |
G |
7: 47,076,394 (GRCm39) |
Y288S |
probably damaging |
Het |
Mroh9 |
T |
A |
1: 162,890,030 (GRCm39) |
M236L |
|
Het |
Muc5b |
A |
C |
7: 141,417,974 (GRCm39) |
K3640T |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,253,318 (GRCm39) |
I1485V |
probably benign |
Het |
Nf2 |
A |
T |
11: 4,744,873 (GRCm39) |
F285L |
probably damaging |
Het |
Nfx1 |
T |
A |
4: 40,990,845 (GRCm39) |
C471S |
probably damaging |
Het |
Nsd1 |
C |
T |
13: 55,361,253 (GRCm39) |
R74W |
probably damaging |
Het |
Nudt16l1 |
A |
T |
16: 4,758,281 (GRCm39) |
*212C |
probably null |
Het |
Oaf |
T |
C |
9: 43,133,992 (GRCm39) |
Y243C |
probably damaging |
Het |
Or51e1 |
T |
C |
7: 102,358,541 (GRCm39) |
V25A |
probably benign |
Het |
Or6c3 |
T |
C |
10: 129,308,690 (GRCm39) |
I43T |
probably benign |
Het |
Or7g30 |
T |
A |
9: 19,352,531 (GRCm39) |
F107L |
probably benign |
Het |
Or7h8 |
A |
G |
9: 20,124,173 (GRCm39) |
H176R |
possibly damaging |
Het |
Or8b36 |
T |
A |
9: 37,937,690 (GRCm39) |
L196* |
probably null |
Het |
Parp9 |
T |
C |
16: 35,768,543 (GRCm39) |
I241T |
probably damaging |
Het |
Phlpp2 |
G |
T |
8: 110,666,590 (GRCm39) |
A1040S |
possibly damaging |
Het |
Pon2 |
A |
T |
6: 5,265,391 (GRCm39) |
V332E |
possibly damaging |
Het |
Ptprc |
A |
G |
1: 138,016,302 (GRCm39) |
V544A |
probably damaging |
Het |
Rfx6 |
A |
G |
10: 51,597,600 (GRCm39) |
S446G |
probably benign |
Het |
Rnf103 |
T |
A |
6: 71,487,099 (GRCm39) |
C577S |
probably benign |
Het |
Ros1 |
T |
G |
10: 51,922,301 (GRCm39) |
E2278D |
possibly damaging |
Het |
Rpl37 |
A |
G |
15: 5,147,109 (GRCm39) |
S50G |
probably benign |
Het |
Rrad |
C |
T |
8: 105,355,343 (GRCm39) |
V222M |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,769,283 (GRCm39) |
T2770A |
probably benign |
Het |
Secisbp2l |
G |
A |
2: 125,617,623 (GRCm39) |
P18L |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,429,310 (GRCm39) |
W260R |
probably damaging |
Het |
Slc35c2 |
A |
G |
2: 165,122,797 (GRCm39) |
M117T |
probably benign |
Het |
Slc44a5 |
A |
G |
3: 153,953,373 (GRCm39) |
T252A |
probably benign |
Het |
Speer4f2 |
T |
A |
5: 17,581,610 (GRCm39) |
L184Q |
|
Het |
Sphkap |
C |
G |
1: 83,234,982 (GRCm39) |
V1615L |
probably damaging |
Het |
Sult2a3 |
C |
T |
7: 13,806,981 (GRCm39) |
V234I |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,630,132 (GRCm39) |
L704P |
probably damaging |
Het |
Tas2r126 |
T |
C |
6: 42,412,174 (GRCm39) |
S236P |
probably benign |
Het |
Tnik |
A |
G |
3: 28,704,235 (GRCm39) |
I1020V |
probably damaging |
Het |
Tomm5 |
T |
C |
4: 45,106,724 (GRCm39) |
Q64R |
unknown |
Het |
Ttll13 |
A |
G |
7: 79,897,182 (GRCm39) |
E16G |
probably benign |
Het |
Vmn1r21 |
C |
A |
6: 57,821,348 (GRCm39) |
C32F |
probably benign |
Het |
Vmn2r51 |
T |
A |
7: 9,839,480 (GRCm39) |
D36V |
probably damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,576,413 (GRCm39) |
D467N |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,625,850 (GRCm39) |
N454S |
possibly damaging |
Het |
Wfdc1 |
A |
C |
8: 120,406,116 (GRCm39) |
D77A |
|
Het |
Yme1l1 |
T |
A |
2: 23,077,815 (GRCm39) |
I419N |
probably damaging |
Het |
Zfp106 |
G |
A |
2: 120,364,812 (GRCm39) |
Q555* |
probably null |
Het |
Zfp773 |
A |
C |
7: 7,138,302 (GRCm39) |
M111R |
probably damaging |
Het |
Zmat3 |
G |
A |
3: 32,397,767 (GRCm39) |
A165V |
possibly damaging |
Het |
|
Other mutations in Atp8b5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00885:Atp8b5
|
APN |
4 |
43,355,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00970:Atp8b5
|
APN |
4 |
43,311,938 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01335:Atp8b5
|
APN |
4 |
43,302,628 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01462:Atp8b5
|
APN |
4 |
43,368,010 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01657:Atp8b5
|
APN |
4 |
43,291,693 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01935:Atp8b5
|
APN |
4 |
43,366,638 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01977:Atp8b5
|
APN |
4 |
43,320,590 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02102:Atp8b5
|
APN |
4 |
43,364,167 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02369:Atp8b5
|
APN |
4 |
43,334,205 (GRCm39) |
missense |
probably benign |
|
IGL02456:Atp8b5
|
APN |
4 |
43,365,578 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02696:Atp8b5
|
APN |
4 |
43,369,634 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02826:Atp8b5
|
APN |
4 |
43,366,770 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Atp8b5
|
APN |
4 |
43,305,774 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0128:Atp8b5
|
UTSW |
4 |
43,369,715 (GRCm39) |
critical splice donor site |
probably null |
|
R0130:Atp8b5
|
UTSW |
4 |
43,369,715 (GRCm39) |
critical splice donor site |
probably null |
|
R0243:Atp8b5
|
UTSW |
4 |
43,366,057 (GRCm39) |
missense |
probably benign |
|
R0256:Atp8b5
|
UTSW |
4 |
43,302,576 (GRCm39) |
intron |
probably benign |
|
R0379:Atp8b5
|
UTSW |
4 |
43,361,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R0671:Atp8b5
|
UTSW |
4 |
43,291,672 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1109:Atp8b5
|
UTSW |
4 |
43,305,719 (GRCm39) |
intron |
probably benign |
|
R1442:Atp8b5
|
UTSW |
4 |
43,334,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R1454:Atp8b5
|
UTSW |
4 |
43,302,590 (GRCm39) |
missense |
probably benign |
|
R1469:Atp8b5
|
UTSW |
4 |
43,291,733 (GRCm39) |
critical splice donor site |
probably null |
|
R1469:Atp8b5
|
UTSW |
4 |
43,291,733 (GRCm39) |
critical splice donor site |
probably null |
|
R1503:Atp8b5
|
UTSW |
4 |
43,344,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1580:Atp8b5
|
UTSW |
4 |
43,355,673 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1677:Atp8b5
|
UTSW |
4 |
43,372,903 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1861:Atp8b5
|
UTSW |
4 |
43,372,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Atp8b5
|
UTSW |
4 |
43,361,804 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1903:Atp8b5
|
UTSW |
4 |
43,357,063 (GRCm39) |
missense |
probably damaging |
0.98 |
R1961:Atp8b5
|
UTSW |
4 |
43,369,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R2131:Atp8b5
|
UTSW |
4 |
43,370,726 (GRCm39) |
missense |
probably benign |
0.33 |
R2971:Atp8b5
|
UTSW |
4 |
43,361,953 (GRCm39) |
splice site |
probably benign |
|
R3023:Atp8b5
|
UTSW |
4 |
43,311,957 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3433:Atp8b5
|
UTSW |
4 |
43,372,697 (GRCm39) |
missense |
probably benign |
|
R3690:Atp8b5
|
UTSW |
4 |
43,368,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R4157:Atp8b5
|
UTSW |
4 |
43,365,591 (GRCm39) |
missense |
probably damaging |
0.97 |
R4484:Atp8b5
|
UTSW |
4 |
43,357,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Atp8b5
|
UTSW |
4 |
43,320,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Atp8b5
|
UTSW |
4 |
43,320,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4679:Atp8b5
|
UTSW |
4 |
43,365,955 (GRCm39) |
missense |
probably benign |
0.16 |
R4753:Atp8b5
|
UTSW |
4 |
43,372,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R4761:Atp8b5
|
UTSW |
4 |
43,308,504 (GRCm39) |
makesense |
probably null |
|
R4784:Atp8b5
|
UTSW |
4 |
43,356,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4785:Atp8b5
|
UTSW |
4 |
43,356,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4855:Atp8b5
|
UTSW |
4 |
43,344,449 (GRCm39) |
missense |
probably benign |
|
R5422:Atp8b5
|
UTSW |
4 |
43,366,644 (GRCm39) |
missense |
probably benign |
0.10 |
R5915:Atp8b5
|
UTSW |
4 |
43,370,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R6228:Atp8b5
|
UTSW |
4 |
43,304,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R6496:Atp8b5
|
UTSW |
4 |
43,371,003 (GRCm39) |
missense |
probably benign |
0.03 |
R6708:Atp8b5
|
UTSW |
4 |
43,334,249 (GRCm39) |
missense |
probably benign |
|
R6931:Atp8b5
|
UTSW |
4 |
43,364,108 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7021:Atp8b5
|
UTSW |
4 |
43,355,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R7085:Atp8b5
|
UTSW |
4 |
43,361,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R7207:Atp8b5
|
UTSW |
4 |
43,357,018 (GRCm39) |
missense |
probably damaging |
0.97 |
R7404:Atp8b5
|
UTSW |
4 |
43,342,640 (GRCm39) |
missense |
probably benign |
0.10 |
R7448:Atp8b5
|
UTSW |
4 |
43,366,021 (GRCm39) |
missense |
probably benign |
|
R7465:Atp8b5
|
UTSW |
4 |
43,271,269 (GRCm39) |
missense |
probably benign |
0.00 |
R7526:Atp8b5
|
UTSW |
4 |
43,366,609 (GRCm39) |
missense |
probably damaging |
0.99 |
R7616:Atp8b5
|
UTSW |
4 |
43,370,823 (GRCm39) |
critical splice donor site |
probably null |
|
R7698:Atp8b5
|
UTSW |
4 |
43,366,735 (GRCm39) |
missense |
probably benign |
0.27 |
R7883:Atp8b5
|
UTSW |
4 |
43,342,471 (GRCm39) |
missense |
probably damaging |
0.99 |
R8052:Atp8b5
|
UTSW |
4 |
43,356,982 (GRCm39) |
nonsense |
probably null |
|
R8218:Atp8b5
|
UTSW |
4 |
43,372,728 (GRCm39) |
critical splice donor site |
probably null |
|
R8248:Atp8b5
|
UTSW |
4 |
43,366,072 (GRCm39) |
missense |
probably damaging |
0.97 |
R8345:Atp8b5
|
UTSW |
4 |
43,291,714 (GRCm39) |
missense |
probably benign |
0.01 |
R8756:Atp8b5
|
UTSW |
4 |
43,342,439 (GRCm39) |
missense |
probably damaging |
0.98 |
R8888:Atp8b5
|
UTSW |
4 |
43,304,687 (GRCm39) |
missense |
|
|
R8942:Atp8b5
|
UTSW |
4 |
43,353,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R9153:Atp8b5
|
UTSW |
4 |
43,308,493 (GRCm39) |
utr 3 prime |
probably benign |
|
R9211:Atp8b5
|
UTSW |
4 |
43,367,960 (GRCm39) |
missense |
probably damaging |
0.97 |
R9361:Atp8b5
|
UTSW |
4 |
43,369,658 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9786:Atp8b5
|
UTSW |
4 |
43,305,798 (GRCm39) |
missense |
probably damaging |
0.97 |
X0025:Atp8b5
|
UTSW |
4 |
43,366,774 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Atp8b5
|
UTSW |
4 |
43,361,903 (GRCm39) |
missense |
probably benign |
0.40 |
Z1177:Atp8b5
|
UTSW |
4 |
43,370,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTGGCTGTGCAAAGTGC -3'
(R):5'- GTTTTCAGACAGGGAGGCCAAG -3'
Sequencing Primer
(F):5'- CTTCTCAGGAGACTAGACTGACTG -3'
(R):5'- CCAAGTGAAAGGGGACGGTG -3'
|
Posted On |
2022-01-20 |