Incidental Mutation 'IGL02165:Atp13a4'
ID282676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp13a4
Ensembl Gene ENSMUSG00000038094
Gene NameATPase type 13A4
Synonyms9330174J19Rik, 4631413J11Rik
Accession Numbers

Genbank: NM_001164612, NM_172613, NM_001164613

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02165
Quality Score
Status
Chromosome16
Chromosomal Location29395853-29544864 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29434010 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 706 (E706G)
Ref Sequence ENSEMBL: ENSMUSP00000048753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039090] [ENSMUST00000057018] [ENSMUST00000182013] [ENSMUST00000182627]
Predicted Effect probably damaging
Transcript: ENSMUST00000039090
AA Change: E706G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: E706G

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 damaging
Transcript: ENSMUST00000057018
AA Change: E687G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: E687G

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
AA Change: E68G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182357
Predicted Effect possibly damaging
Transcript: ENSMUST00000182573
AA Change: E344G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000182627
AA Change: E706G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: E706G

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,927,186 M199K possibly damaging Het
Abo C A 2: 26,843,429 V255L probably damaging Het
Alas1 A T 9: 106,238,783 M344K probably damaging Het
Ap1m1 A G 8: 72,249,809 I118V probably benign Het
Ap5m1 A T 14: 49,078,728 I252F possibly damaging Het
Arhgef2 G A 3: 88,646,220 R886H probably damaging Het
Baz2a C A 10: 128,119,349 A775E probably benign Het
C3 A T 17: 57,225,092 F210I probably benign Het
Casq1 A G 1: 172,213,381 L280P probably damaging Het
Cebpz A G 17: 78,922,169 F919L probably damaging Het
Dclre1c T A 2: 3,450,381 probably benign Het
Dsc3 T G 18: 19,983,652 M276L probably benign Het
Eftud2 A G 11: 102,851,747 probably benign Het
Elfn2 T A 15: 78,673,418 T310S probably benign Het
Ep300 A G 15: 81,641,391 K1472R probably benign Het
Fbxl2 T C 9: 114,018,031 D8G probably benign Het
Galnt5 T A 2: 57,998,865 M159K probably benign Het
Gm10260 T G 13: 97,760,140 K150T probably benign Het
Gm28048 A T 11: 22,982,072 probably benign Het
Hars2 T A 18: 36,783,394 M1K probably null Het
Hk1 T C 10: 62,281,888 T619A probably damaging Het
Ifi44 C T 3: 151,749,430 V53M probably damaging Het
Ippk T A 13: 49,446,535 V339D possibly damaging Het
Kcnma1 G T 14: 23,336,967 N875K possibly damaging Het
Kdm5a T A 6: 120,415,290 V991E probably damaging Het
Larp6 A G 9: 60,713,312 E36G probably benign Het
Lonp2 A T 8: 86,709,026 D210V probably damaging Het
Lrrc4c G A 2: 97,629,033 M1I probably null Het
Mmp2 A G 8: 92,833,219 K270R probably null Het
Nexmif C T X: 104,084,754 V1186I probably benign Het
Olfr54 A T 11: 51,027,643 I214F probably benign Het
Olfr744 A G 14: 50,619,011 Y263C probably damaging Het
Pld2 T C 11: 70,555,677 L763P probably damaging Het
Pold1 A T 7: 44,538,060 F644L probably damaging Het
Prrc2b T C 2: 32,214,640 S1377P probably damaging Het
Rttn A G 18: 89,043,041 D1111G probably benign Het
Slc27a5 A G 7: 12,994,948 V130A probably damaging Het
Slfn8 T C 11: 83,017,196 R174G probably benign Het
Slitrk6 G A 14: 110,751,817 P153S probably benign Het
Sorcs3 T C 19: 48,654,072 I388T probably benign Het
Star A T 8: 25,812,815 T262S possibly damaging Het
Strn A T 17: 78,687,620 W2R probably damaging Het
Tnmd T C X: 133,862,952 S172P probably damaging Het
Togaram2 A G 17: 71,697,866 K305R probably benign Het
Trhde C A 10: 114,592,161 W410L probably damaging Het
Trim5 C T 7: 104,279,359 R125Q probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vmn1r80 T A 7: 12,193,452 M163K probably benign Het
Wdr34 T C 2: 30,032,160 T430A probably benign Het
Wnk4 C A 11: 101,275,291 probably benign Het
Zfp277 T A 12: 40,315,803 I430F possibly damaging Het
Zfp566 A T 7: 30,077,830 C309S probably damaging Het
Zfp740 T G 15: 102,212,674 F141V possibly damaging Het
Zfp87 T A 13: 67,517,870 I158F probably damaging Het
Zswim3 C A 2: 164,821,115 A505D possibly damaging Het
Other mutations in Atp13a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Atp13a4 APN 16 29403778 splice site probably benign
IGL01577:Atp13a4 APN 16 29441284 missense possibly damaging 0.77
IGL01834:Atp13a4 APN 16 29415777 splice site probably benign
IGL02194:Atp13a4 APN 16 29456629 missense probably damaging 1.00
IGL02322:Atp13a4 APN 16 29440102 missense probably benign 0.00
IGL02553:Atp13a4 APN 16 29422703 missense probably benign 0.03
IGL02821:Atp13a4 APN 16 29441307 missense probably benign 0.01
IGL03349:Atp13a4 APN 16 29456671 missense probably benign 0.01
G5030:Atp13a4 UTSW 16 29455488 missense probably damaging 1.00
R0091:Atp13a4 UTSW 16 29455395 missense probably damaging 1.00
R0100:Atp13a4 UTSW 16 29421724 missense probably damaging 1.00
R0278:Atp13a4 UTSW 16 29454834 missense probably damaging 1.00
R1263:Atp13a4 UTSW 16 29471953 missense possibly damaging 0.60
R1378:Atp13a4 UTSW 16 29420428 missense probably damaging 1.00
R1575:Atp13a4 UTSW 16 29409710 missense probably benign 0.01
R1720:Atp13a4 UTSW 16 29408928 missense probably damaging 0.99
R1759:Atp13a4 UTSW 16 29456611 missense probably damaging 0.99
R1967:Atp13a4 UTSW 16 29479854 missense probably damaging 0.99
R2030:Atp13a4 UTSW 16 29422684 missense probably damaging 1.00
R2113:Atp13a4 UTSW 16 29441284 missense possibly damaging 0.77
R3409:Atp13a4 UTSW 16 29413749 missense probably damaging 1.00
R3410:Atp13a4 UTSW 16 29413749 missense probably damaging 1.00
R4032:Atp13a4 UTSW 16 29418571 missense probably damaging 1.00
R4163:Atp13a4 UTSW 16 29541250 missense possibly damaging 0.87
R4652:Atp13a4 UTSW 16 29452603 missense probably damaging 1.00
R4772:Atp13a4 UTSW 16 29420835 intron probably benign
R4795:Atp13a4 UTSW 16 29490008 critical splice donor site probably null
R4898:Atp13a4 UTSW 16 29408961 nonsense probably null
R4996:Atp13a4 UTSW 16 29472004 missense probably damaging 1.00
R5112:Atp13a4 UTSW 16 29409868 missense possibly damaging 0.87
R5259:Atp13a4 UTSW 16 29456610 missense probably damaging 1.00
R5395:Atp13a4 UTSW 16 29420888 nonsense probably null
R5395:Atp13a4 UTSW 16 29456604 missense possibly damaging 0.94
R5640:Atp13a4 UTSW 16 29415831 missense probably damaging 0.98
R5809:Atp13a4 UTSW 16 29433987 missense possibly damaging 0.56
R5856:Atp13a4 UTSW 16 29433987 missense possibly damaging 0.94
R5912:Atp13a4 UTSW 16 29456571 missense probably benign 0.33
R6282:Atp13a4 UTSW 16 29434004 missense probably benign 0.00
R6404:Atp13a4 UTSW 16 29471901 nonsense probably null
R6497:Atp13a4 UTSW 16 29479901 missense probably damaging 1.00
R6577:Atp13a4 UTSW 16 29479841 missense probably benign 0.03
R6806:Atp13a4 UTSW 16 29469280 missense probably damaging 1.00
R7229:Atp13a4 UTSW 16 29420905 missense probably benign 0.05
R7438:Atp13a4 UTSW 16 29441196 missense
R7493:Atp13a4 UTSW 16 29471956 missense
R7712:Atp13a4 UTSW 16 29459487 missense
R7739:Atp13a4 UTSW 16 29456601 missense
R7897:Atp13a4 UTSW 16 29396466 missense
R7950:Atp13a4 UTSW 16 29449917 missense
R8217:Atp13a4 UTSW 16 29403801 missense
R8227:Atp13a4 UTSW 16 29403845 missense
R8273:Atp13a4 UTSW 16 29471902 missense
R8488:Atp13a4 UTSW 16 29417836 missense possibly damaging 0.63
R8508:Atp13a4 UTSW 16 29454769 nonsense probably null
R8773:Atp13a4 UTSW 16 29441580 missense
R8921:Atp13a4 UTSW 16 29454774 missense
Z1176:Atp13a4 UTSW 16 29422587 missense probably null
Posted On2015-04-16