Incidental Mutation 'R6143:Atp13a1'
ID 488680
Institutional Source Beutler Lab
Gene Symbol Atp13a1
Ensembl Gene ENSMUSG00000031862
Gene Name ATPase type 13A1
Synonyms Cgi152, catp, Atp13a
MMRRC Submission 044290-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6143 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70243813-70260399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70258010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 922 (P922S)
Ref Sequence ENSEMBL: ENSMUSP00000034326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034326] [ENSMUST00000036074] [ENSMUST00000123453]
AlphaFold Q9EPE9
Predicted Effect probably benign
Transcript: ENSMUST00000034326
AA Change: P922S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: P922S

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
Predicted Effect probably benign
Transcript: ENSMUST00000036074
SMART Domains Protein: ENSMUSP00000045676
Gene: ENSMUSG00000036246

DomainStartEndE-ValueType
PDB:3QWE|A 85 356 1e-149 PDB
low complexity region 358 367 N/A INTRINSIC
low complexity region 389 406 N/A INTRINSIC
low complexity region 419 431 N/A INTRINSIC
C1 491 536 1.75e-6 SMART
RhoGAP 561 753 1.06e-61 SMART
Blast:RhoGAP 824 971 1e-53 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000123453
SMART Domains Protein: ENSMUSP00000116542
Gene: ENSMUSG00000036246

DomainStartEndE-ValueType
PDB:3QWE|A 85 356 1e-150 PDB
low complexity region 358 367 N/A INTRINSIC
low complexity region 389 406 N/A INTRINSIC
low complexity region 419 431 N/A INTRINSIC
C1 491 536 1.75e-6 SMART
RhoGAP 561 753 1.06e-61 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
Allele List at MGI

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

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A G 14: 55,797,736 (GRCm39) probably benign Het
Abcd2 A T 15: 91,075,150 (GRCm39) V221E possibly damaging Het
Arhgap39 T A 15: 76,614,606 (GRCm39) K853* probably null Het
Art2a T C 7: 101,204,430 (GRCm39) D36G possibly damaging Het
Brwd1 C T 16: 95,804,156 (GRCm39) G2005R probably benign Het
Bzw2 A T 12: 36,170,725 (GRCm39) M133K probably benign Het
Cacna1s T G 1: 136,004,496 (GRCm39) S346A probably damaging Het
Cebpb C A 2: 167,531,220 (GRCm39) D93E probably benign Het
Cep162 C A 9: 87,094,904 (GRCm39) probably null Het
Col9a2 A T 4: 120,911,060 (GRCm39) Y565F probably damaging Het
Csgalnact1 T A 8: 68,826,202 (GRCm39) N372I probably damaging Het
Csmd1 T C 8: 16,138,315 (GRCm39) D1579G probably damaging Het
Cyfip2 A C 11: 46,144,792 (GRCm39) Y687* probably null Het
Cyp2d34 G A 15: 82,504,977 (GRCm39) R28W probably benign Het
Dbndd2 C A 2: 164,330,206 (GRCm39) Q13K probably damaging Het
Dnah5 T A 15: 28,233,377 (GRCm39) S245R probably benign Het
Dnajb5 A T 4: 42,956,990 (GRCm39) T226S probably damaging Het
Dnmt1 T C 9: 20,838,430 (GRCm39) E211G probably benign Het
Dnpep G A 1: 75,291,872 (GRCm39) H214Y probably damaging Het
Drc3 G A 11: 60,261,406 (GRCm39) V186M possibly damaging Het
Dvl3 A G 16: 20,345,789 (GRCm39) D413G possibly damaging Het
Dyrk4 C T 6: 126,863,614 (GRCm39) probably null Het
Edc4 T A 8: 106,612,506 (GRCm39) D181E probably damaging Het
Enthd1 T C 15: 80,393,487 (GRCm39) Y247C possibly damaging Het
Gm5622 A T 14: 51,892,372 (GRCm39) R50S possibly damaging Het
Gpbp1 G A 13: 111,603,389 (GRCm39) T20I probably damaging Het
Hnrnpdl A T 5: 100,184,410 (GRCm39) Y276* probably null Het
Hsd3b7 A C 7: 127,400,404 (GRCm39) E51A probably damaging Het
Ighv5-16 G T 12: 113,802,238 (GRCm39) F87L probably damaging Het
Iqsec1 C T 6: 90,786,666 (GRCm39) probably null Het
Irgm2 A T 11: 58,111,435 (GRCm39) E387D possibly damaging Het
Klhl23 C A 2: 69,664,040 (GRCm39) P463Q possibly damaging Het
Mast4 A T 13: 102,990,391 (GRCm39) N43K probably damaging Het
Mme T G 3: 63,207,532 (GRCm39) probably null Het
Mrps31 T G 8: 22,901,539 (GRCm39) S20A probably benign Het
Myo5c A G 9: 75,157,091 (GRCm39) R176G probably damaging Het
Naf1 T C 8: 67,330,347 (GRCm39) V291A possibly damaging Het
Nbeal1 A T 1: 60,290,466 (GRCm39) H1021L possibly damaging Het
Ncaph2 T C 15: 89,248,206 (GRCm39) probably null Het
Neurod4 T G 10: 130,106,869 (GRCm39) Y135S probably damaging Het
Nrp2 A T 1: 62,799,974 (GRCm39) N396I probably damaging Het
Nvl T G 1: 180,962,560 (GRCm39) T137P probably benign Het
Or5p59 A G 7: 107,703,335 (GRCm39) D273G probably damaging Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pcdhgc4 T A 18: 37,950,653 (GRCm39) S690T possibly damaging Het
Pck1 A T 2: 172,995,805 (GRCm39) D101V probably damaging Het
Pdilt T A 7: 119,094,265 (GRCm39) N329Y probably damaging Het
Pfkl T A 10: 77,825,447 (GRCm39) R648W probably damaging Het
Prtn3 T A 10: 79,716,382 (GRCm39) I63N probably damaging Het
Psg22 C T 7: 18,456,723 (GRCm39) A163V probably benign Het
Pten A G 19: 32,777,485 (GRCm39) T160A possibly damaging Het
Retreg2 A G 1: 75,123,530 (GRCm39) D449G probably damaging Het
Scn9a T C 2: 66,317,868 (GRCm39) Y1531C probably benign Het
Sgk2 T A 2: 162,841,174 (GRCm39) C195S probably damaging Het
Slc19a3 C T 1: 83,004,060 (GRCm39) V14I probably benign Het
Snai2 A T 16: 14,526,107 (GRCm39) R253* probably null Het
Speg G A 1: 75,391,031 (GRCm39) V1512I probably damaging Het
Srsf1 G A 11: 87,940,425 (GRCm39) probably benign Het
Tctn3 G T 19: 40,597,671 (GRCm39) T190N probably benign Het
Tmprss11f T A 5: 86,687,558 (GRCm39) I117L probably benign Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Vmn2r118 G T 17: 55,899,871 (GRCm39) L678I possibly damaging Het
Vps13b T C 15: 35,668,884 (GRCm39) S1594P probably damaging Het
Vps13d G T 4: 144,875,135 (GRCm39) H1791N possibly damaging 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
R5920:Atp13a1 UTSW 8 70,252,746 (GRCm39) missense probably benign 0.02
R5951:Atp13a1 UTSW 8 70,249,935 (GRCm39) missense probably damaging 1.00
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'- TGCAACTGAACACTGGTACC -3'
(R):5'- ACTGGATGGAGGACAGCTTG -3'

Sequencing Primer
(F):5'- TACCAGACCGTGTGCCC -3'
(R):5'- AGCTTGGAGGTGAAGGGTGC -3'
Posted On 2017-10-10