Incidental Mutation 'R4761:Atp8b5'
ID 356872
Institutional Source Beutler Lab
Gene Symbol Atp8b5
Ensembl Gene ENSMUSG00000028457
Gene Name ATPase, class I, type 8B, member 5
Synonyms 4930417M19Rik, FetA
MMRRC Submission 042402-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4761 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43267159-43373833 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 43308504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 40 (*40W)
Ref Sequence ENSEMBL: ENSMUSP00000116428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102953] [ENSMUST00000107937] [ENSMUST00000107942] [ENSMUST00000136262]
AlphaFold A3FIN4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000056010
Predicted Effect probably damaging
Transcript: ENSMUST00000102953
AA Change: D130G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
AA Change: D130G

DomainStartEndE-ValueType
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: D130G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: D130G

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000136262
AA Change: *40W
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A G 9: 101,820,165 (GRCm39) D195G possibly damaging Het
Abcc8 G A 7: 45,762,499 (GRCm39) R1221C probably damaging Het
Adra1a T A 14: 66,964,880 (GRCm39) probably null Het
Akr1c6 A T 13: 4,497,010 (GRCm39) M98L probably benign Het
Alpk3 A G 7: 80,753,916 (GRCm39) Q1632R probably damaging Het
Arhgap24 G T 5: 102,812,080 (GRCm39) probably benign Het
Bdkrb2 A T 12: 105,554,537 (GRCm39) M17L probably benign Het
C4bp T C 1: 130,581,158 (GRCm39) K117R possibly damaging Het
Cacng3 A T 7: 122,367,887 (GRCm39) T256S probably benign Het
Cep63 T C 9: 102,464,240 (GRCm39) probably benign Het
Ces2b T A 8: 105,563,193 (GRCm39) probably null Het
Col12a1 T A 9: 79,564,592 (GRCm39) D1696V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcst1 A T 3: 89,264,860 (GRCm39) M296K possibly damaging Het
Ehbp1l1 G A 19: 5,769,875 (GRCm39) P476L possibly damaging Het
Enpp1 A G 10: 24,517,849 (GRCm39) V858A possibly damaging Het
Ermp1 T A 19: 29,623,656 (GRCm39) E55D probably benign Het
Eya1 G A 1: 14,373,045 (GRCm39) L25F probably damaging Het
Foxn2 T A 17: 88,770,136 (GRCm39) probably null Het
Gabrb3 A T 7: 57,415,250 (GRCm39) T107S probably damaging Het
Gm26678 A T 3: 54,540,564 (GRCm39) noncoding transcript Het
Gm7897 G T 1: 173,657,536 (GRCm39) noncoding transcript Het
Gm9789 A T 16: 88,954,915 (GRCm39) Y8F unknown Het
Gsta3 A T 1: 21,330,381 (GRCm39) T78S probably benign Het
H2-Ab1 A G 17: 34,486,474 (GRCm39) N178D probably damaging Het
Herc6 G A 6: 57,639,885 (GRCm39) V1000I probably benign Het
Hrnr A C 3: 93,230,062 (GRCm39) K100T probably damaging Het
Ift57 T C 16: 49,522,263 (GRCm39) F2L probably damaging Het
Iqca1l A G 5: 24,756,981 (GRCm39) V232A probably benign Het
Kmt2a C A 9: 44,760,421 (GRCm39) R509L probably damaging Het
Lefty1 T A 1: 180,765,190 (GRCm39) C253S probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Mfsd9 T C 1: 40,813,635 (GRCm39) K227E possibly damaging Het
Mrps2 C G 2: 28,359,946 (GRCm39) H268D probably benign Het
Mrps27 T A 13: 99,548,739 (GRCm39) S292T probably benign Het
Ncaph T C 2: 126,948,036 (GRCm39) D683G probably benign Het
Nlrc3 A T 16: 3,781,514 (GRCm39) S632T probably damaging Het
Nsun6 T C 2: 15,034,872 (GRCm39) T198A possibly damaging Het
Oasl2 C T 5: 115,037,836 (GRCm39) H78Y probably benign Het
Or8b54 T C 9: 38,687,133 (GRCm39) V194A probably benign Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pdgfrb C A 18: 61,212,772 (GRCm39) S892Y probably damaging Het
Phf8-ps A T 17: 33,286,172 (GRCm39) V210D probably damaging Het
Por T G 5: 135,754,784 (GRCm39) probably benign Het
Ppp2r5e A T 12: 75,640,035 (GRCm39) V22D possibly damaging Het
Prcp A G 7: 92,566,933 (GRCm39) probably null Het
Ptchd3 A T 11: 121,727,224 (GRCm39) N366I possibly damaging Het
Rprd1b A G 2: 157,889,890 (GRCm39) E4G probably damaging Het
Semp2l1 A T 1: 32,585,588 (GRCm39) S107R possibly damaging Het
Serpinb6d C A 13: 33,855,250 (GRCm39) S308Y probably damaging Het
Slc12a7 T C 13: 73,961,708 (GRCm39) V1026A probably benign Het
Slc17a7 G A 7: 44,820,408 (GRCm39) V313I probably benign Het
Slc35c1 T A 2: 92,289,168 (GRCm39) M113L probably damaging Het
Smgc A G 15: 91,729,717 (GRCm39) T178A possibly damaging Het
Spef2 A T 15: 9,653,040 (GRCm39) W914R probably damaging Het
Srfbp1 C A 18: 52,621,638 (GRCm39) P233Q probably damaging Het
Swt1 A C 1: 151,276,853 (GRCm39) C508G probably benign Het
Tex22 T C 12: 113,052,386 (GRCm39) V148A possibly damaging Het
Tle7 A T 8: 110,836,753 (GRCm39) D213V probably damaging Het
Tpd52 G A 3: 9,028,933 (GRCm39) P37L probably damaging Het
Utp25 T C 1: 192,796,230 (GRCm39) Y145C probably damaging Het
Vmn1r197 A T 13: 22,512,174 (GRCm39) M32L probably benign Het
Vmn2r100 T C 17: 19,741,630 (GRCm39) F114S possibly damaging Het
Xdh T A 17: 74,217,262 (GRCm39) I669F possibly damaging Het
Zfp940 G A 7: 29,545,578 (GRCm39) R110C probably benign Het
Other mutations in Atp8b5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AAGATGGGTCTCTTTCTTTCCTT -3'
(R):5'- CCTCAATGAAGTAGAAACAAACTCATT -3'

Sequencing Primer
(F):5'- GATGGGTCTCTTTCTTTCCTTTTCTG -3'
(R):5'- TTTAGCAATGGTGGCCTC -3'
Posted On 2015-11-11