Incidental Mutation 'IGL01122:Atp13a1'
ID 51796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp13a1
Ensembl Gene ENSMUSG00000031862
Gene Name ATPase type 13A1
Synonyms Cgi152, catp, Atp13a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01122
Quality Score
Status
Chromosome 8
Chromosomal Location 70243813-70260399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70251555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 540 (L540Q)
Ref Sequence ENSEMBL: ENSMUSP00000034326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034326]
AlphaFold Q9EPE9
Predicted Effect probably damaging
Transcript: ENSMUST00000034326
AA Change: L540Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034326
Gene: ENSMUSG00000031862
AA Change: L540Q

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
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap6 A T X: 168,029,666 (GRCm39) K142N possibly damaging Het
Cacna1a T C 8: 85,341,422 (GRCm39) probably null Het
Cops6 A G 5: 138,160,635 (GRCm39) K129E probably benign Het
Cracd T C 5: 77,018,522 (GRCm39) *1289Q probably null Het
Cyp11a1 T C 9: 57,923,589 (GRCm39) I98T probably damaging Het
Cyp2c65 A G 19: 39,060,621 (GRCm39) probably null Het
Dapl1 A T 2: 59,324,839 (GRCm39) K30I probably damaging Het
Dlg2 A G 7: 92,091,816 (GRCm39) M894V possibly damaging Het
Eme2 C T 17: 25,112,320 (GRCm39) A202T possibly damaging Het
Fbxw22 A T 9: 109,215,739 (GRCm39) S170T probably damaging Het
Havcr2 A G 11: 46,347,254 (GRCm39) Y77C probably damaging Het
Ivd T A 2: 118,707,361 (GRCm39) probably benign Het
Map3k9 T C 12: 81,778,900 (GRCm39) D471G possibly damaging Het
Med12 T C X: 100,325,149 (GRCm39) probably benign Het
Megf6 C T 4: 154,338,264 (GRCm39) R445W probably damaging Het
Mptx1 A G 1: 174,159,964 (GRCm39) Y90C probably damaging Het
Nek1 G A 8: 61,574,000 (GRCm39) V1083I possibly damaging Het
Nepn T A 10: 52,267,911 (GRCm39) I59N probably damaging Het
Or4a72 A G 2: 89,405,767 (GRCm39) I101T possibly damaging Het
Pbdc1 T C X: 104,126,297 (GRCm39) probably benign Het
Phlpp1 G T 1: 106,101,166 (GRCm39) R478L possibly damaging Het
Ppp2r3c C T 12: 55,344,587 (GRCm39) G127D probably benign Het
Ppp2r3d A G 9: 101,088,844 (GRCm39) L493P probably benign Het
Pramel24 A G 4: 143,454,971 (GRCm39) D423G probably benign Het
Psap T C 10: 60,135,253 (GRCm39) V303A probably benign Het
Rdh13 T C 7: 4,445,694 (GRCm39) K60R probably benign Het
Scaf4 A G 16: 90,045,518 (GRCm39) S528P unknown Het
Sfmbt1 A G 14: 30,532,268 (GRCm39) I543V probably damaging Het
Speg T C 1: 75,386,679 (GRCm39) L1271P probably damaging Het
Stard9 C A 2: 120,528,960 (GRCm39) T1739K possibly damaging Het
Tas2r134 G T 2: 51,517,671 (GRCm39) C50F probably damaging Het
Tmprss11b G T 5: 86,811,376 (GRCm39) T186K probably benign Het
U2surp G T 9: 95,372,287 (GRCm39) Q291K probably benign Het
Ulk4 A G 9: 120,997,358 (GRCm39) I738T possibly damaging Het
Urb1 A T 16: 90,601,346 (GRCm39) S142T possibly damaging Het
Vmn2r112 T A 17: 22,821,988 (GRCm39) I222N probably benign Het
Zmym4 T C 4: 126,758,045 (GRCm39) N1503S probably 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
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
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
Posted On 2013-06-21