Incidental Mutation 'IGL02991:Atp11b'
ID 452907
Institutional Source Beutler Lab
Gene Symbol Atp11b
Ensembl Gene ENSMUSG00000037400
Gene Name ATPase, class VI, type 11B
Synonyms 1110019I14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # IGL02991 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 35808255-35910425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35881140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 566 (T566A)
Ref Sequence ENSEMBL: ENSMUSP00000142676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029257] [ENSMUST00000198599]
AlphaFold Q6DFW5
Predicted Effect probably benign
Transcript: ENSMUST00000029257
AA Change: T766A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: T766A

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 21 90 2.4e-24 PFAM
Pfam:E1-E2_ATPase 95 369 5.4e-13 PFAM
Pfam:Hydrolase 401 757 1.5e-10 PFAM
Pfam:HAD 404 829 5.9e-20 PFAM
Pfam:Cation_ATPase 492 605 7.1e-13 PFAM
Pfam:PhoLip_ATPase_C 846 1099 1.5e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197003
Predicted Effect probably benign
Transcript: ENSMUST00000198599
AA Change: T566A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: T566A

DomainStartEndE-ValueType
low complexity region 90 107 N/A INTRINSIC
Pfam:Hydrolase 201 632 3e-17 PFAM
Pfam:HAD 204 629 4e-16 PFAM
Pfam:Hydrolase_like2 292 405 1.2e-13 PFAM
low complexity region 833 848 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200445
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 95% (73/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Adam23 T C 1: 63,586,978 (GRCm39) probably null Het
Aptx C A 4: 40,686,687 (GRCm39) G199C probably damaging Het
Asap2 T C 12: 21,299,294 (GRCm39) probably benign Het
Bcas3 C T 11: 85,348,713 (GRCm39) Q202* probably null Het
Cacna1h C A 17: 25,610,286 (GRCm39) R740L possibly damaging Het
Casp8 T A 1: 58,866,438 (GRCm39) N146K probably benign Het
Ccdc63 T C 5: 122,246,275 (GRCm39) M549V probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh20 T C 1: 104,861,972 (GRCm39) S51P probably benign Het
Chd7 T C 4: 8,828,398 (GRCm39) M1113T possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 ACC AC 1: 139,164,822 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cxcl11 C T 5: 92,509,169 (GRCm39) R28H probably damaging Het
Defb40 C T 8: 19,025,119 (GRCm39) C29Y probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fen1 A T 19: 10,178,026 (GRCm39) D139E probably benign Het
Frem3 A G 8: 81,395,511 (GRCm39) E1846G probably damaging Het
Gria2 T A 3: 80,615,116 (GRCm39) K455* probably null Het
Hmcn1 A T 1: 150,614,409 (GRCm39) N1332K possibly damaging Het
Htr5b C T 1: 121,455,756 (GRCm39) V55M probably benign Het
Ighv6-5 A T 12: 114,380,315 (GRCm39) N86K probably benign Het
Il4ra T C 7: 125,174,833 (GRCm39) V347A possibly damaging Het
Itih5 A G 2: 10,256,162 (GRCm39) E876G probably benign Het
Itpkb A T 1: 180,155,279 (GRCm39) probably benign Het
Lbr T C 1: 181,649,117 (GRCm39) Y334C probably damaging Het
Lrfn2 T C 17: 49,377,732 (GRCm39) L271P probably damaging Het
Lss T A 10: 76,379,745 (GRCm39) probably benign Het
Map1a T C 2: 121,132,091 (GRCm39) V731A probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mob3b T A 4: 35,083,805 (GRCm39) Q128L probably benign Het
Mog T C 17: 37,334,091 (GRCm39) M1V probably null Het
Mrpl4 A G 9: 20,919,901 (GRCm39) Y284C probably damaging Het
Mtus2 T G 5: 148,250,310 (GRCm39) V310G probably damaging Het
Mup11 ACAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCA 4: 60,618,275 (GRCm39) probably benign Het
Odad4 A G 11: 100,444,698 (GRCm39) S285G probably benign Het
Or10g9 T C 9: 39,911,698 (GRCm39) Y275C probably damaging Het
Or8g55 T A 9: 39,785,362 (GRCm39) S264T probably benign Het
Orc3 T G 4: 34,593,083 (GRCm39) Q328P probably damaging Het
Otulinl T C 15: 27,658,388 (GRCm39) S211G possibly damaging Het
Pcdhb20 G T 18: 37,639,264 (GRCm39) G597C probably damaging Het
Pdxdc1 A G 16: 13,675,260 (GRCm39) I334T probably damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Proz G A 8: 13,123,490 (GRCm39) E254K probably benign Het
Psma6 T C 12: 55,454,357 (GRCm39) probably benign Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Ryr2 A G 13: 11,776,192 (GRCm39) V1115A probably damaging Het
Sfxn5 G T 6: 85,266,190 (GRCm39) N102K possibly damaging Het
Sgo2a G T 1: 58,054,514 (GRCm39) probably benign Het
Slc14a2 A T 18: 78,249,049 (GRCm39) M1K probably null Het
Spag5 T A 11: 78,205,077 (GRCm39) L621M probably damaging Het
Spata31 A G 13: 65,068,533 (GRCm39) Y227C probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,179 (GRCm39) E728G probably damaging Het
Sympk T A 7: 18,764,502 (GRCm39) L69Q probably damaging Het
Timd4 T A 11: 46,732,974 (GRCm39) probably benign Het
Trh G A 6: 92,220,719 (GRCm39) R48W probably damaging Het
Trip12 C A 1: 84,716,536 (GRCm39) D383Y probably damaging Het
Tspo2 T A 17: 48,757,014 (GRCm39) I23F possibly damaging Het
Tspyl5 A G 15: 33,686,989 (GRCm39) S319P probably damaging Het
Txlnb A G 10: 17,717,201 (GRCm39) K403E probably damaging Het
Vmn2r34 C A 7: 7,675,720 (GRCm39) C556F probably damaging Het
Vps13c C A 9: 67,821,159 (GRCm39) A1223E probably damaging Het
Other mutations in Atp11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Atp11b APN 3 35,863,525 (GRCm39) splice site probably null
IGL00722:Atp11b APN 3 35,874,084 (GRCm39) missense probably damaging 1.00
IGL00725:Atp11b APN 3 35,881,222 (GRCm39) missense probably damaging 0.97
IGL01514:Atp11b APN 3 35,891,130 (GRCm39) missense probably damaging 1.00
IGL01532:Atp11b APN 3 35,903,651 (GRCm39) nonsense probably null
IGL01789:Atp11b APN 3 35,843,741 (GRCm39) missense possibly damaging 0.81
IGL01915:Atp11b APN 3 35,885,612 (GRCm39) missense probably damaging 1.00
IGL02009:Atp11b APN 3 35,868,301 (GRCm39) missense probably benign 0.07
IGL02049:Atp11b APN 3 35,854,642 (GRCm39) missense probably damaging 0.99
IGL02952:Atp11b APN 3 35,882,844 (GRCm39) missense probably damaging 1.00
R0044:Atp11b UTSW 3 35,866,401 (GRCm39) missense probably damaging 0.99
R0254:Atp11b UTSW 3 35,866,259 (GRCm39) missense possibly damaging 0.82
R0538:Atp11b UTSW 3 35,891,163 (GRCm39) missense probably damaging 1.00
R0541:Atp11b UTSW 3 35,861,093 (GRCm39) missense probably damaging 0.99
R0653:Atp11b UTSW 3 35,893,343 (GRCm39) missense probably damaging 0.99
R0790:Atp11b UTSW 3 35,887,072 (GRCm39) missense probably damaging 1.00
R1083:Atp11b UTSW 3 35,832,162 (GRCm39) splice site probably benign
R1371:Atp11b UTSW 3 35,860,918 (GRCm39) missense probably damaging 0.97
R1458:Atp11b UTSW 3 35,843,707 (GRCm39) missense probably damaging 1.00
R1875:Atp11b UTSW 3 35,893,296 (GRCm39) missense probably damaging 1.00
R1921:Atp11b UTSW 3 35,888,474 (GRCm39) missense probably damaging 1.00
R2008:Atp11b UTSW 3 35,909,271 (GRCm39) missense probably damaging 0.97
R2065:Atp11b UTSW 3 35,893,223 (GRCm39) missense probably damaging 1.00
R2112:Atp11b UTSW 3 35,891,677 (GRCm39) missense probably damaging 1.00
R2228:Atp11b UTSW 3 35,861,091 (GRCm39) missense probably damaging 1.00
R2270:Atp11b UTSW 3 35,864,283 (GRCm39) splice site probably null
R2273:Atp11b UTSW 3 35,882,762 (GRCm39) missense probably benign 0.04
R2439:Atp11b UTSW 3 35,868,233 (GRCm39) missense possibly damaging 0.68
R2497:Atp11b UTSW 3 35,909,294 (GRCm39) missense probably damaging 0.99
R4181:Atp11b UTSW 3 35,854,714 (GRCm39) missense probably benign 0.19
R4181:Atp11b UTSW 3 35,843,707 (GRCm39) missense probably damaging 1.00
R4714:Atp11b UTSW 3 35,888,543 (GRCm39) missense probably benign 0.02
R4923:Atp11b UTSW 3 35,889,528 (GRCm39) critical splice donor site probably null
R4937:Atp11b UTSW 3 35,861,157 (GRCm39) splice site probably null
R5013:Atp11b UTSW 3 35,888,532 (GRCm39) missense possibly damaging 0.66
R5058:Atp11b UTSW 3 35,863,510 (GRCm39) missense probably benign 0.41
R5171:Atp11b UTSW 3 35,887,086 (GRCm39) missense probably damaging 1.00
R5200:Atp11b UTSW 3 35,891,156 (GRCm39) missense probably benign 0.21
R5465:Atp11b UTSW 3 35,864,333 (GRCm39) missense probably benign 0.00
R5651:Atp11b UTSW 3 35,909,289 (GRCm39) missense probably damaging 1.00
R5689:Atp11b UTSW 3 35,888,501 (GRCm39) missense possibly damaging 0.67
R5718:Atp11b UTSW 3 35,891,665 (GRCm39) missense probably benign 0.12
R5807:Atp11b UTSW 3 35,866,428 (GRCm39) missense probably damaging 1.00
R5888:Atp11b UTSW 3 35,891,696 (GRCm39) missense probably benign 0.15
R6059:Atp11b UTSW 3 35,868,326 (GRCm39) missense possibly damaging 0.72
R6259:Atp11b UTSW 3 35,861,050 (GRCm39) missense probably damaging 1.00
R6359:Atp11b UTSW 3 35,832,210 (GRCm39) missense probably benign 0.04
R6367:Atp11b UTSW 3 35,838,686 (GRCm39) missense probably damaging 1.00
R6577:Atp11b UTSW 3 35,893,311 (GRCm39) missense probably damaging 0.99
R6818:Atp11b UTSW 3 35,868,329 (GRCm39) missense possibly damaging 0.71
R7016:Atp11b UTSW 3 35,895,185 (GRCm39) missense probably benign
R7178:Atp11b UTSW 3 35,874,099 (GRCm39) missense probably benign 0.34
R7614:Atp11b UTSW 3 35,864,259 (GRCm39) splice site probably null
R7729:Atp11b UTSW 3 35,832,256 (GRCm39) missense probably damaging 0.97
R7910:Atp11b UTSW 3 35,885,652 (GRCm39) missense possibly damaging 0.68
R7967:Atp11b UTSW 3 35,895,192 (GRCm39) missense probably benign 0.03
R8085:Atp11b UTSW 3 35,895,185 (GRCm39) missense probably benign
R8095:Atp11b UTSW 3 35,888,565 (GRCm39) missense probably damaging 1.00
R8499:Atp11b UTSW 3 35,864,854 (GRCm39) missense probably benign 0.01
R8672:Atp11b UTSW 3 35,874,066 (GRCm39) missense probably benign 0.19
R9046:Atp11b UTSW 3 35,852,740 (GRCm39) splice site probably benign
R9047:Atp11b UTSW 3 35,861,038 (GRCm39) missense probably damaging 0.98
R9065:Atp11b UTSW 3 35,887,131 (GRCm39) critical splice donor site probably null
R9713:Atp11b UTSW 3 35,885,560 (GRCm39) missense probably damaging 1.00
R9761:Atp11b UTSW 3 35,903,621 (GRCm39) missense probably benign 0.25
R9761:Atp11b UTSW 3 35,903,616 (GRCm39) missense probably damaging 1.00
R9761:Atp11b UTSW 3 35,903,607 (GRCm39) nonsense probably null
Z1088:Atp11b UTSW 3 35,866,362 (GRCm39) missense probably damaging 1.00
Z1177:Atp11b UTSW 3 35,861,003 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TCAGGTAATACAACTGAGTTTGTTCAC -3'
(R):5'- GCCCTAGGTTGAAGCTGATTAAC -3'

Sequencing Primer
(F):5'- ACAACTGAGTTTGTTCACTTACAC -3'
(R):5'- TCTCTCCCTTCCTTCCTTAAGAG -3'
Posted On 2017-01-24