Incidental Mutation 'R5408:Atp13a1'
ID 426395
Institutional Source Beutler Lab
Gene Symbol Atp13a1
Ensembl Gene ENSMUSG00000031862
Gene Name ATPase type 13A1
Synonyms Cgi152, catp, Atp13a
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 70243813-70260399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70249490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 251 (V251A)
Ref Sequence ENSEMBL: ENSMUSP00000034326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034326]
AlphaFold Q9EPE9
Predicted Effect probably benign
Transcript: ENSMUST00000034326
AA Change: V251A

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: V251A

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
Meta Mutation Damage Score 0.2154 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
Allele List at MGI

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

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E 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
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
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'- GTGTTTCAGGTAACAGCAGC -3'
(R):5'- AGCATAGCACGTGCATGGTG -3'

Sequencing Primer
(F):5'- AGCAGCTCTGGCCCTTGTG -3'
(R):5'- ACGTGCATGGTGTCCACTC -3'
Posted On 2016-09-01