Incidental Mutation 'R9786:Atp8b5'
| ID |
734319 |
| 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 # |
R9786 (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 A
at 43305798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 114
(I114K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102953]
[ENSMUST00000107937]
[ENSMUST00000107942]
[ENSMUST00000136262]
|
| AlphaFold |
A3FIN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102953
AA Change: I114K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
AA Change: I114K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
49 |
N/A |
INTRINSIC |
|
Blast:CUB
|
55 |
90 |
1e-6 |
BLAST |
|
Pfam:E1-E2_ATPase
|
107 |
305 |
4.7e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107937
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107942
AA Change: I114K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: I114K
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136262
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,502,536 (GRCm39) |
M232K |
possibly damaging |
Het |
| Abcc1 |
T |
C |
16: 14,222,927 (GRCm39) |
S243P |
probably damaging |
Het |
| Acsl1 |
T |
C |
8: 46,974,486 (GRCm39) |
Y320H |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,653,090 (GRCm39) |
S61G |
probably benign |
Het |
| Adamts1 |
G |
A |
16: 85,592,302 (GRCm39) |
T965I |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,456,182 (GRCm39) |
M190K |
probably damaging |
Het |
| Ankrd2 |
T |
A |
19: 42,033,358 (GRCm39) |
L300Q |
|
Het |
| Ankrd27 |
A |
T |
7: 35,291,294 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Atrn |
A |
T |
2: 130,786,809 (GRCm39) |
I205F |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Boc |
C |
T |
16: 44,311,692 (GRCm39) |
R677H |
|
Het |
| Calhm6 |
A |
G |
10: 34,003,643 (GRCm39) |
F88S |
probably benign |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,502,939 (GRCm39) |
E255V |
probably benign |
Het |
| Dpysl3 |
G |
T |
18: 43,462,922 (GRCm39) |
T485K |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,194,038 (GRCm39) |
D867G |
possibly damaging |
Het |
| Fam178b |
G |
A |
1: 36,603,517 (GRCm39) |
T478I |
probably damaging |
Het |
| Foxd2 |
G |
T |
4: 114,764,850 (GRCm39) |
T390K |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,040,645 (GRCm39) |
V731A |
probably benign |
Het |
| Grin2a |
T |
A |
16: 9,471,466 (GRCm39) |
I601F |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,250,959 (GRCm39) |
R169Q |
possibly damaging |
Het |
| Ighe |
G |
C |
12: 113,236,851 (GRCm39) |
Q6E |
|
Het |
| Ighv8-2 |
T |
C |
12: 114,426,179 (GRCm39) |
I31V |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,878,104 (GRCm39) |
D120G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,702,982 (GRCm39) |
D1054G |
probably benign |
Het |
| Lamp5 |
A |
T |
2: 135,910,998 (GRCm39) |
I244F |
probably damaging |
Het |
| Maco1 |
A |
T |
4: 134,557,993 (GRCm39) |
Y173* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mfsd4b1 |
T |
C |
10: 39,878,865 (GRCm39) |
E344G |
probably damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,556 (GRCm39) |
K13R |
probably benign |
Het |
| Mrpl43 |
C |
T |
19: 44,994,346 (GRCm39) |
S91N |
probably benign |
Het |
| Mtbp |
T |
C |
15: 55,481,032 (GRCm39) |
S706P |
probably benign |
Het |
| Nelfb |
A |
T |
2: 25,095,145 (GRCm39) |
V348D |
probably damaging |
Het |
| Or1l8 |
T |
A |
2: 36,817,416 (GRCm39) |
K237* |
probably null |
Het |
| Or5p72 |
A |
T |
7: 108,021,924 (GRCm39) |
I49F |
probably benign |
Het |
| Or7g20 |
C |
T |
9: 18,947,241 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k18 |
G |
A |
2: 86,085,428 (GRCm39) |
S203L |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,713 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,140,009 (GRCm39) |
I324T |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,660,655 (GRCm39) |
L770* |
probably null |
Het |
| Pik3c2b |
T |
A |
1: 133,019,338 (GRCm39) |
F1029I |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,087,890 (GRCm39) |
S500R |
probably benign |
Het |
| Sarm1 |
T |
C |
11: 78,365,743 (GRCm39) |
M761V |
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,822,140 (GRCm39) |
L264P |
possibly damaging |
Het |
| Slc37a1 |
G |
T |
17: 31,556,965 (GRCm39) |
G377V |
probably damaging |
Het |
| Slc38a4 |
T |
A |
15: 96,906,378 (GRCm39) |
M364L |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,580,280 (GRCm39) |
F384S |
probably benign |
Het |
| Smyd4 |
T |
C |
11: 75,281,625 (GRCm39) |
V366A |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,155 (GRCm39) |
V1101D |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,498 (GRCm39) |
D441N |
possibly damaging |
Het |
| Stab2 |
C |
A |
10: 86,757,997 (GRCm39) |
M1090I |
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,062,457 (GRCm39) |
T903I |
probably damaging |
Het |
| Tgds |
A |
T |
14: 118,368,049 (GRCm39) |
Y41* |
probably null |
Het |
| Tle4 |
G |
T |
19: 14,495,304 (GRCm39) |
H142N |
probably benign |
Het |
| Tlx2 |
T |
C |
6: 83,046,274 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
C |
G |
19: 5,131,869 (GRCm39) |
A446P |
probably damaging |
Het |
| Tmem205 |
A |
T |
9: 21,832,496 (GRCm39) |
D138E |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,042 (GRCm39) |
K1009E |
unknown |
Het |
| Tnk2 |
T |
A |
16: 32,498,875 (GRCm39) |
C729* |
probably null |
Het |
| Trim46 |
T |
A |
3: 89,142,399 (GRCm39) |
D696V |
probably damaging |
Het |
| Tuba3b |
G |
A |
6: 145,564,482 (GRCm39) |
R84Q |
probably benign |
Het |
| Unc119b |
C |
T |
5: 115,263,521 (GRCm39) |
D228N |
probably damaging |
Het |
| Usp17la |
A |
G |
7: 104,510,864 (GRCm39) |
T490A |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,853 (GRCm39) |
C625* |
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,919,768 (GRCm39) |
M1I |
probably null |
Het |
| Zfp729a |
T |
C |
13: 67,768,628 (GRCm39) |
T534A |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,668,047 (GRCm39) |
H305L |
probably benign |
Het |
| Zscan10 |
C |
T |
17: 23,828,330 (GRCm39) |
Q291* |
probably null |
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 |
|
|
R9154:Atp8b5
|
UTSW |
4 |
43,372,630 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
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'- ACTAGGGCCAGCGAGTTTATTAG -3'
(R):5'- TTCTGGCCAAGCAGAAACCTG -3'
Sequencing Primer
(F):5'- GGCCAGCGAGTTTATTAGTTTAAACC -3'
(R):5'- AACCCTATGGCATCCGGGATAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation