Incidental Mutation 'R5920:Atp13a1'
ID 461527
Institutional Source Beutler Lab
Gene Symbol Atp13a1
Ensembl Gene ENSMUSG00000031862
Gene Name ATPase type 13A1
Synonyms Cgi152, catp, Atp13a
MMRRC Submission 044117-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5920 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 70243813-70260399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70252746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 689 (E689K)
Ref Sequence ENSEMBL: ENSMUSP00000034326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034326]
AlphaFold Q9EPE9
Predicted Effect probably benign
Transcript: ENSMUST00000034326
AA Change: E689K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: E689K

DomainStartEndE-ValueType
low complexity region 54 62 N/A INTRINSIC
transmembrane domain 64 86 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
Pfam:E1-E2_ATPase 264 515 3.2e-24 PFAM
Pfam:Hydrolase 524 781 2.2e-11 PFAM
Pfam:HAD 527 870 2.7e-27 PFAM
low complexity region 883 894 N/A INTRINSIC
transmembrane domain 1045 1067 N/A INTRINSIC
transmembrane domain 1093 1115 N/A INTRINSIC
transmembrane domain 1130 1147 N/A INTRINSIC
low complexity region 1173 1184 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,164,091 (GRCm39) K31E probably damaging Het
Ak9 T A 10: 41,296,672 (GRCm39) C1473S probably benign Het
Aox1 T C 1: 58,088,631 (GRCm39) L139S probably damaging Het
Arhgap45 T A 10: 79,864,965 (GRCm39) V849D possibly damaging Het
Calcr G A 6: 3,722,994 (GRCm39) R11W probably damaging Het
Casd1 T A 6: 4,641,853 (GRCm39) L710Q probably null Het
Cenpc1 T A 5: 86,168,769 (GRCm39) T743S probably benign Het
Cfap43 A G 19: 47,749,335 (GRCm39) V1185A possibly damaging Het
Chd2 A G 7: 73,187,060 (GRCm39) L33P probably damaging Het
Col24a1 G T 3: 145,133,985 (GRCm39) G889C probably damaging Het
Cracdl T A 1: 37,677,062 (GRCm39) K40M probably damaging Het
Dbh T C 2: 27,067,243 (GRCm39) probably benign Het
Dcdc2c T C 12: 28,585,536 (GRCm39) I154V possibly damaging Het
Eif2b5 G T 16: 20,317,694 (GRCm39) A11S unknown Het
Frmd4a T G 2: 4,337,927 (GRCm39) N44K probably benign Het
Fsip2 C T 2: 82,818,852 (GRCm39) Q4862* probably null Het
Hectd4 C T 5: 121,446,334 (GRCm39) T1513I possibly damaging Het
Hspg2 A T 4: 137,281,093 (GRCm39) D3355V probably damaging Het
Ift56 A G 6: 38,389,005 (GRCm39) Y430C probably damaging Het
Il16 G A 7: 83,301,552 (GRCm39) T190I probably benign Het
Immt T A 6: 71,840,180 (GRCm39) V319D probably benign Het
Kdm2b G C 5: 123,018,359 (GRCm39) S989W probably damaging Het
Kmt2e A G 5: 23,704,440 (GRCm39) E1211G possibly damaging Het
Ktn1 G T 14: 47,961,481 (GRCm39) G1061* probably null Het
Mast3 T C 8: 71,240,577 (GRCm39) I287V probably benign Het
Mrgpre T A 7: 143,335,465 (GRCm39) T13S probably benign Het
Myoc C T 1: 162,467,128 (GRCm39) A99V probably benign Het
Or10a49 C A 7: 108,467,895 (GRCm39) M155I probably benign Het
Otulinl T A 15: 27,664,442 (GRCm39) R109S possibly damaging Het
Per3 G A 4: 151,096,907 (GRCm39) P873S probably benign Het
Phykpl A C 11: 51,493,622 (GRCm39) E453A probably benign Het
Pkd2l2 A T 18: 34,563,826 (GRCm39) I514L probably benign Het
Plcl2 G T 17: 50,915,703 (GRCm39) R904L probably damaging Het
Ptpn1 A G 2: 167,813,668 (GRCm39) D137G probably benign Het
Rasal3 G A 17: 32,614,143 (GRCm39) P571S probably damaging Het
Sdha A G 13: 74,475,044 (GRCm39) probably null Het
Tbc1d31 C A 15: 57,805,954 (GRCm39) Q439K probably benign Het
Ttc12 T C 9: 49,364,633 (GRCm39) D381G possibly damaging Het
Uaca T A 9: 60,776,885 (GRCm39) M424K probably benign Het
Usp33 G T 3: 152,080,320 (GRCm39) A484S probably damaging Het
Usp9y A G Y: 1,316,730 (GRCm39) S1940P probably damaging Het
Zfp532 G A 18: 65,777,421 (GRCm39) V893I probably benign Het
Other mutations in Atp13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Atp13a1 APN 8 70,249,547 (GRCm39) missense probably damaging 1.00
IGL00949:Atp13a1 APN 8 70,252,653 (GRCm39) splice site probably benign
IGL01122:Atp13a1 APN 8 70,251,555 (GRCm39) missense probably damaging 1.00
IGL02399:Atp13a1 APN 8 70,259,751 (GRCm39) missense probably damaging 1.00
IGL02616:Atp13a1 APN 8 70,257,963 (GRCm39) missense probably benign
IGL03073:Atp13a1 APN 8 70,251,152 (GRCm39) missense probably damaging 1.00
yun_nan UTSW 8 70,251,329 (GRCm39) missense probably damaging 1.00
P0005:Atp13a1 UTSW 8 70,256,397 (GRCm39) missense possibly damaging 0.88
R0086:Atp13a1 UTSW 8 70,250,424 (GRCm39) missense possibly damaging 0.86
R0384:Atp13a1 UTSW 8 70,249,974 (GRCm39) missense possibly damaging 0.89
R0973:Atp13a1 UTSW 8 70,254,794 (GRCm39) critical splice donor site probably null
R0973:Atp13a1 UTSW 8 70,254,794 (GRCm39) critical splice donor site probably null
R0974:Atp13a1 UTSW 8 70,254,794 (GRCm39) critical splice donor site probably null
R2010:Atp13a1 UTSW 8 70,244,010 (GRCm39) missense possibly damaging 0.77
R2040:Atp13a1 UTSW 8 70,259,702 (GRCm39) missense possibly damaging 0.76
R2069:Atp13a1 UTSW 8 70,252,423 (GRCm39) missense probably benign 0.00
R4274:Atp13a1 UTSW 8 70,257,942 (GRCm39) missense probably benign
R4288:Atp13a1 UTSW 8 70,246,728 (GRCm39) missense possibly damaging 0.89
R4470:Atp13a1 UTSW 8 70,251,329 (GRCm39) missense probably damaging 1.00
R5408:Atp13a1 UTSW 8 70,249,490 (GRCm39) missense probably benign 0.41
R5916:Atp13a1 UTSW 8 70,259,748 (GRCm39) missense probably damaging 1.00
R5951:Atp13a1 UTSW 8 70,249,935 (GRCm39) missense probably damaging 1.00
R6143:Atp13a1 UTSW 8 70,258,010 (GRCm39) missense probably benign
R6467:Atp13a1 UTSW 8 70,259,424 (GRCm39) missense probably damaging 1.00
R6487:Atp13a1 UTSW 8 70,252,528 (GRCm39) missense probably damaging 0.99
R7166:Atp13a1 UTSW 8 70,251,966 (GRCm39) splice site probably null
R7652:Atp13a1 UTSW 8 70,258,209 (GRCm39) missense probably damaging 0.97
R7942:Atp13a1 UTSW 8 70,259,870 (GRCm39) missense probably damaging 0.96
R8014:Atp13a1 UTSW 8 70,252,429 (GRCm39) nonsense probably null
R8228:Atp13a1 UTSW 8 70,251,569 (GRCm39) missense probably damaging 1.00
R8496:Atp13a1 UTSW 8 70,250,618 (GRCm39) missense probably damaging 1.00
R8951:Atp13a1 UTSW 8 70,246,484 (GRCm39) missense probably benign 0.01
R9000:Atp13a1 UTSW 8 70,254,725 (GRCm39) missense probably damaging 1.00
R9087:Atp13a1 UTSW 8 70,256,457 (GRCm39) missense probably damaging 1.00
R9721:Atp13a1 UTSW 8 70,252,087 (GRCm39) missense probably damaging 1.00
RF001:Atp13a1 UTSW 8 70,252,720 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CACTGACCTCTGCTACATCG -3'
(R):5'- GATCCACTATGGCCTCTGAC -3'

Sequencing Primer
(F):5'- TACATCGCGGCTGTGAAG -3'
(R):5'- TATGGCCTCTGACCACCAG -3'
Posted On 2017-02-28