Incidental Mutation 'IGL01577:Atp13a4'
ID 91295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp13a4
Ensembl Gene ENSMUSG00000038094
Gene Name ATPase type 13A4
Synonyms 4631413J11Rik, 9330174J19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01577
Quality Score
Status
Chromosome 16
Chromosomal Location 29214671-29363682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 29260102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 235 (V235I)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039090] [ENSMUST00000057018] [ENSMUST00000182013] [ENSMUST00000182627]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039090
AA Change: V597I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: V597I

DomainStartEndE-ValueType
Pfam:P5-ATPase 17 143 8.4e-31 PFAM
Cation_ATPase_N 147 223 1.09e-1 SMART
Pfam:E1-E2_ATPase 229 476 1.7e-36 PFAM
Pfam:Hydrolase 481 769 3.9e-11 PFAM
Pfam:HAD 484 787 4.1e-14 PFAM
Pfam:Hydrolase_like2 574 637 1.2e-9 PFAM
transmembrane domain 824 846 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057018
AA Change: V578I

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: V578I

DomainStartEndE-ValueType
Pfam:P5-ATPase 17 142 9.6e-34 PFAM
Cation_ATPase_N 147 223 1.09e-1 SMART
Pfam:E1-E2_ATPase 228 476 1.6e-34 PFAM
Pfam:Hydrolase 481 767 1.1e-10 PFAM
Pfam:HAD 484 858 3.3e-23 PFAM
Pfam:Cation_ATPase 573 637 4.9e-8 PFAM
transmembrane domain 902 924 N/A INTRINSIC
transmembrane domain 934 951 N/A INTRINSIC
transmembrane domain 972 994 N/A INTRINSIC
low complexity region 1014 1023 N/A INTRINSIC
transmembrane domain 1040 1057 N/A INTRINSIC
transmembrane domain 1070 1092 N/A INTRINSIC
transmembrane domain 1107 1126 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182013
SMART Domains Protein: ENSMUSP00000138583
Gene: ENSMUSG00000038094

DomainStartEndE-ValueType
Pfam:P5-ATPase 17 84 4.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182357
Predicted Effect possibly damaging
Transcript: ENSMUST00000182573
AA Change: V235I

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000182627
AA Change: V597I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: V597I

DomainStartEndE-ValueType
Pfam:P5-ATPase 17 143 2.1e-29 PFAM
Cation_ATPase_N 147 223 1.09e-1 SMART
Pfam:E1-E2_ATPase 229 476 3.9e-35 PFAM
Pfam:Hydrolase 481 861 4.2e-16 PFAM
Pfam:HAD 484 858 1.9e-23 PFAM
Pfam:Hydrolase_like2 574 637 2.2e-8 PFAM
transmembrane domain 902 924 N/A INTRINSIC
transmembrane domain 934 951 N/A INTRINSIC
transmembrane domain 972 994 N/A INTRINSIC
low complexity region 1014 1023 N/A INTRINSIC
transmembrane domain 1040 1057 N/A INTRINSIC
transmembrane domain 1070 1092 N/A INTRINSIC
transmembrane domain 1107 1126 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,709,232 (GRCm39) T279A probably benign Het
Adamts9 T G 6: 92,835,128 (GRCm39) probably benign Het
Apba3 G A 10: 81,108,053 (GRCm39) G403D probably damaging Het
Brca2 T A 5: 150,465,085 (GRCm39) C1616* probably null Het
Ccdc7a T A 8: 129,715,244 (GRCm39) E280V probably damaging Het
Cdc42bpb A G 12: 111,268,477 (GRCm39) I1241T possibly damaging Het
Cplx4 G T 18: 66,103,015 (GRCm39) A35E probably damaging Het
Cyp2j8 T G 4: 96,367,308 (GRCm39) D270A probably damaging Het
Cyp7a1 T C 4: 6,273,618 (GRCm39) D96G probably damaging Het
Ddx11 G A 17: 66,446,398 (GRCm39) R429H possibly damaging Het
Depdc5 C A 5: 33,113,241 (GRCm39) T419N possibly damaging Het
Diaph3 A C 14: 87,143,467 (GRCm39) I737R probably damaging Het
Elf2 C T 3: 51,163,773 (GRCm39) probably benign Het
Epha6 T A 16: 59,777,289 (GRCm39) I673L possibly damaging Het
Ephx1 A G 1: 180,829,545 (GRCm39) M1T probably null Het
Fndc3a A T 14: 72,827,298 (GRCm39) M84K probably damaging Het
Gad2 T C 2: 22,571,292 (GRCm39) probably benign Het
Gba2 G A 4: 43,573,753 (GRCm39) Q180* probably null Het
Gga2 A G 7: 121,589,006 (GRCm39) Y574H probably damaging Het
Gm7168 A T 17: 14,169,649 (GRCm39) R339W probably damaging Het
Hdac10 T C 15: 89,010,416 (GRCm39) E302G possibly damaging Het
Ighv1-72 A G 12: 115,721,893 (GRCm39) V21A possibly damaging Het
Kif15 A G 9: 122,825,399 (GRCm39) E774G probably benign Het
Lig3 A G 11: 82,674,303 (GRCm39) N43S probably benign Het
Nmnat1 T A 4: 149,554,135 (GRCm39) D135V possibly damaging Het
Or1s2 A G 19: 13,758,162 (GRCm39) Y62C probably damaging Het
Or52n2 A G 7: 104,542,730 (GRCm39) F35S probably benign Het
Pak6 A C 2: 118,524,129 (GRCm39) K428T probably benign Het
Pou2f3 G A 9: 43,058,178 (GRCm39) Q56* probably null Het
Prep T C 10: 44,948,144 (GRCm39) probably benign Het
Psd4 C T 2: 24,293,234 (GRCm39) P700S probably damaging Het
Rad18 A T 6: 112,642,302 (GRCm39) probably benign Het
Rbbp5 A G 1: 132,420,393 (GRCm39) K209E possibly damaging Het
Smurf1 G A 5: 144,829,998 (GRCm39) T335I probably damaging Het
Tbcd G A 11: 121,387,838 (GRCm39) R72Q probably damaging Het
Tsga10 T C 1: 37,874,538 (GRCm39) T116A possibly damaging Het
Unc80 A G 1: 66,569,127 (GRCm39) probably null Het
Vmn1r87 C A 7: 12,865,775 (GRCm39) V171F probably benign Het
Ythdc2 A T 18: 44,991,349 (GRCm39) M786L probably benign Het
Zmym6 C A 4: 126,999,223 (GRCm39) T469K probably damaging Het
Other mutations in Atp13a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Atp13a4 APN 16 29,222,596 (GRCm39) splice site probably benign
IGL01834:Atp13a4 APN 16 29,234,595 (GRCm39) splice site probably benign
IGL02165:Atp13a4 APN 16 29,252,828 (GRCm39) missense probably damaging 1.00
IGL02194:Atp13a4 APN 16 29,275,447 (GRCm39) missense probably damaging 1.00
IGL02322:Atp13a4 APN 16 29,258,920 (GRCm39) missense probably benign 0.00
IGL02553:Atp13a4 APN 16 29,241,521 (GRCm39) missense probably benign 0.03
IGL02821:Atp13a4 APN 16 29,260,125 (GRCm39) missense probably benign 0.01
IGL03349:Atp13a4 APN 16 29,275,489 (GRCm39) missense probably benign 0.01
G5030:Atp13a4 UTSW 16 29,274,306 (GRCm39) missense probably damaging 1.00
R0091:Atp13a4 UTSW 16 29,274,213 (GRCm39) missense probably damaging 1.00
R0100:Atp13a4 UTSW 16 29,240,542 (GRCm39) missense probably damaging 1.00
R0278:Atp13a4 UTSW 16 29,273,652 (GRCm39) missense probably damaging 1.00
R1263:Atp13a4 UTSW 16 29,290,771 (GRCm39) missense possibly damaging 0.60
R1378:Atp13a4 UTSW 16 29,239,246 (GRCm39) missense probably damaging 1.00
R1575:Atp13a4 UTSW 16 29,228,528 (GRCm39) missense probably benign 0.01
R1720:Atp13a4 UTSW 16 29,227,746 (GRCm39) missense probably damaging 0.99
R1759:Atp13a4 UTSW 16 29,275,429 (GRCm39) missense probably damaging 0.99
R1967:Atp13a4 UTSW 16 29,298,672 (GRCm39) missense probably damaging 0.99
R2030:Atp13a4 UTSW 16 29,241,502 (GRCm39) missense probably damaging 1.00
R2113:Atp13a4 UTSW 16 29,260,102 (GRCm39) missense possibly damaging 0.77
R3409:Atp13a4 UTSW 16 29,232,567 (GRCm39) missense probably damaging 1.00
R3410:Atp13a4 UTSW 16 29,232,567 (GRCm39) missense probably damaging 1.00
R4032:Atp13a4 UTSW 16 29,237,389 (GRCm39) missense probably damaging 1.00
R4163:Atp13a4 UTSW 16 29,360,068 (GRCm39) missense possibly damaging 0.87
R4652:Atp13a4 UTSW 16 29,271,421 (GRCm39) missense probably damaging 1.00
R4772:Atp13a4 UTSW 16 29,239,653 (GRCm39) intron probably benign
R4795:Atp13a4 UTSW 16 29,308,826 (GRCm39) critical splice donor site probably null
R4898:Atp13a4 UTSW 16 29,227,779 (GRCm39) nonsense probably null
R4996:Atp13a4 UTSW 16 29,290,822 (GRCm39) missense probably damaging 1.00
R5112:Atp13a4 UTSW 16 29,228,686 (GRCm39) missense possibly damaging 0.87
R5259:Atp13a4 UTSW 16 29,275,428 (GRCm39) missense probably damaging 1.00
R5395:Atp13a4 UTSW 16 29,275,422 (GRCm39) missense possibly damaging 0.94
R5395:Atp13a4 UTSW 16 29,239,706 (GRCm39) nonsense probably null
R5640:Atp13a4 UTSW 16 29,234,649 (GRCm39) missense probably damaging 0.98
R5809:Atp13a4 UTSW 16 29,252,805 (GRCm39) missense possibly damaging 0.56
R5856:Atp13a4 UTSW 16 29,252,805 (GRCm39) missense possibly damaging 0.94
R5912:Atp13a4 UTSW 16 29,275,389 (GRCm39) missense probably benign 0.33
R6282:Atp13a4 UTSW 16 29,252,822 (GRCm39) missense probably benign 0.00
R6404:Atp13a4 UTSW 16 29,290,719 (GRCm39) nonsense probably null
R6497:Atp13a4 UTSW 16 29,298,719 (GRCm39) missense probably damaging 1.00
R6577:Atp13a4 UTSW 16 29,298,659 (GRCm39) missense probably benign 0.03
R6806:Atp13a4 UTSW 16 29,288,098 (GRCm39) missense probably damaging 1.00
R7229:Atp13a4 UTSW 16 29,239,723 (GRCm39) missense probably benign 0.05
R7438:Atp13a4 UTSW 16 29,260,014 (GRCm39) missense
R7493:Atp13a4 UTSW 16 29,290,774 (GRCm39) missense
R7712:Atp13a4 UTSW 16 29,278,305 (GRCm39) missense
R7739:Atp13a4 UTSW 16 29,275,419 (GRCm39) missense
R7897:Atp13a4 UTSW 16 29,215,284 (GRCm39) missense
R7950:Atp13a4 UTSW 16 29,268,735 (GRCm39) missense
R8217:Atp13a4 UTSW 16 29,222,619 (GRCm39) missense
R8227:Atp13a4 UTSW 16 29,222,663 (GRCm39) missense
R8273:Atp13a4 UTSW 16 29,290,720 (GRCm39) missense
R8488:Atp13a4 UTSW 16 29,236,654 (GRCm39) missense possibly damaging 0.63
R8508:Atp13a4 UTSW 16 29,273,587 (GRCm39) nonsense probably null
R8773:Atp13a4 UTSW 16 29,260,398 (GRCm39) missense
R8921:Atp13a4 UTSW 16 29,273,592 (GRCm39) missense
R8940:Atp13a4 UTSW 16 29,273,508 (GRCm39) critical splice donor site probably null
R9056:Atp13a4 UTSW 16 29,290,706 (GRCm39) critical splice donor site probably null
R9272:Atp13a4 UTSW 16 29,268,797 (GRCm39) missense
R9292:Atp13a4 UTSW 16 29,241,500 (GRCm39) missense
R9415:Atp13a4 UTSW 16 29,227,821 (GRCm39) missense
R9453:Atp13a4 UTSW 16 29,239,659 (GRCm39) missense unknown
R9497:Atp13a4 UTSW 16 29,288,130 (GRCm39) critical splice acceptor site probably null
R9541:Atp13a4 UTSW 16 29,241,544 (GRCm39) missense
R9614:Atp13a4 UTSW 16 29,260,398 (GRCm39) missense
R9622:Atp13a4 UTSW 16 29,239,277 (GRCm39) missense
R9727:Atp13a4 UTSW 16 29,228,589 (GRCm39) missense
Z1176:Atp13a4 UTSW 16 29,241,405 (GRCm39) missense probably null
Posted On 2013-12-09