Incidental Mutation 'R7422:Atp9a'
ID 575711
Institutional Source Beutler Lab
Gene Symbol Atp9a
Ensembl Gene ENSMUSG00000027546
Gene Name ATPase, class II, type 9A
Synonyms IIa, Class II
MMRRC Submission 045500-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7422 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 168476358-168584290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 168490513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 829 (L829Q)
Ref Sequence ENSEMBL: ENSMUSP00000104805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029060] [ENSMUST00000109175] [ENSMUST00000109176] [ENSMUST00000109177] [ENSMUST00000178504]
AlphaFold O70228
Predicted Effect probably damaging
Transcript: ENSMUST00000029060
AA Change: L771Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: L771Q

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
Pfam:E1-E2_ATPase 108 368 7.4e-21 PFAM
Pfam:Hydrolase 385 797 1.5e-19 PFAM
Pfam:HAD 388 794 1.1e-14 PFAM
Pfam:Hydrolase_like2 464 579 3.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109175
AA Change: L755Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: L755Q

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
Pfam:E1-E2_ATPase 92 352 7.2e-21 PFAM
Pfam:Hydrolase 369 781 1.4e-19 PFAM
Pfam:HAD 372 778 1.1e-14 PFAM
Pfam:Hydrolase_like2 448 563 3.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109176
AA Change: L829Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: L829Q

DomainStartEndE-ValueType
low complexity region 18 57 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 97 163 1.9e-20 PFAM
Pfam:E1-E2_ATPase 166 418 5.8e-13 PFAM
Pfam:Hydrolase 443 855 2.8e-13 PFAM
Pfam:HAD 446 852 2.4e-14 PFAM
Pfam:Cation_ATPase 522 635 1.5e-6 PFAM
Pfam:PhoLip_ATPase_C 869 1098 1.7e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109177
AA Change: L753Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: L753Q

DomainStartEndE-ValueType
low complexity region 55 70 N/A INTRINSIC
Pfam:E1-E2_ATPase 90 350 7.2e-21 PFAM
Pfam:Hydrolase 367 779 1.4e-19 PFAM
Pfam:HAD 370 776 1.1e-14 PFAM
Pfam:Hydrolase_like2 446 561 3.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178504
AA Change: L771Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: L771Q

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
Pfam:E1-E2_ATPase 108 368 7.4e-21 PFAM
Pfam:Hydrolase 385 797 1.5e-19 PFAM
Pfam:HAD 388 794 1.1e-14 PFAM
Pfam:Hydrolase_like2 464 579 3.4e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 97% (98/101)
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,885 (GRCm39) C456S probably damaging Het
4930524J08Rik T C 5: 100,127,068 (GRCm39) probably benign Het
Adam28 T G 14: 68,864,326 (GRCm39) R492S probably damaging Het
Adarb2 G A 13: 8,807,313 (GRCm39) A705T possibly damaging Het
Adprhl1 T C 8: 13,272,873 (GRCm39) D1295G probably benign Het
Aldh3b3 A G 19: 4,016,476 (GRCm39) I365V probably benign Het
Aldh8a1 T C 10: 21,264,996 (GRCm39) F208L possibly damaging Het
Ap3b1 G A 13: 94,664,673 (GRCm39) V871I unknown Het
Apol7e A T 15: 77,598,552 (GRCm39) R6* probably null Het
Arfgap3 T C 15: 83,191,150 (GRCm39) E456G probably damaging Het
Arhgef1 T C 7: 24,615,461 (GRCm39) L285P probably benign Het
Arhgef7 T A 8: 11,850,861 (GRCm39) C315S probably benign Het
Babam2 T A 5: 31,888,393 (GRCm39) probably null Het
Bptf C T 11: 106,951,384 (GRCm39) R2185H probably damaging Het
Brd9 A C 13: 74,102,697 (GRCm39) M473L probably benign Het
C7 T C 15: 5,041,538 (GRCm39) H456R probably benign Het
Cabp7 C A 11: 4,688,856 (GRCm39) A205S probably damaging Het
Catsperb A G 12: 101,554,293 (GRCm39) I662M probably damaging Het
Ccl21a T C 4: 42,773,906 (GRCm39) M5V probably benign Het
Cdyl G T 13: 36,042,177 (GRCm39) R405L possibly damaging Het
Cep89 T C 7: 35,127,672 (GRCm39) L538P probably damaging Het
Cercam A G 2: 29,762,892 (GRCm39) M209V possibly damaging Het
Chfr T A 5: 110,310,571 (GRCm39) probably null Het
Cntnap5c T A 17: 58,717,226 (GRCm39) Y1269* probably null Het
Col6a2 G T 10: 76,439,170 (GRCm39) C833* probably null Het
Cpeb3 T A 19: 37,151,900 (GRCm39) I159F probably benign Het
Cplx2 G A 13: 54,526,663 (GRCm39) E24K possibly damaging Het
Ctsb A G 14: 63,379,752 (GRCm39) T332A probably benign Het
Cyp2j12 T A 4: 96,029,222 (GRCm39) T20S probably benign Het
Dcst2 T A 3: 89,273,993 (GRCm39) H181Q probably damaging Het
Dnm1l T C 16: 16,136,338 (GRCm39) I411V probably benign Het
Dock5 T A 14: 68,046,479 (GRCm39) I768F probably benign Het
Ecel1 A G 1: 87,077,334 (GRCm39) Y625H probably damaging Het
Efl1 T G 7: 82,330,587 (GRCm39) S253R probably damaging Het
Elmod1 T A 9: 53,820,127 (GRCm39) D287V probably damaging Het
Fam171a2 T C 11: 102,329,491 (GRCm39) S423G probably benign Het
Fbxo8 A T 8: 57,022,317 (GRCm39) probably null Het
Flnc G T 6: 29,455,470 (GRCm39) G2040W probably damaging Het
Fras1 C T 5: 96,821,458 (GRCm39) A1405V probably benign Het
Frem3 A C 8: 81,342,392 (GRCm39) I1562L probably benign Het
Fxr1 C T 3: 34,103,369 (GRCm39) A233V probably damaging Het
H1f9 A G 11: 94,859,184 (GRCm39) R160G possibly damaging Het
Helb A G 10: 119,944,799 (GRCm39) F246L probably damaging Het
Hoxb6 G T 11: 96,183,510 (GRCm39) probably benign Het
Hspa2 A G 12: 76,452,884 (GRCm39) E526G probably damaging Het
Hyal5 A T 6: 24,875,983 (GRCm39) probably benign Het
Ints6 A T 14: 62,942,224 (GRCm39) V503E probably benign Het
Ints9 C T 14: 65,269,747 (GRCm39) T479I possibly damaging Het
Jag1 C T 2: 136,926,975 (GRCm39) R928H probably benign Het
Lman2 A T 13: 55,499,338 (GRCm39) I179N probably damaging Het
Lta T C 17: 35,422,805 (GRCm39) S173G probably benign Het
Mki67 G A 7: 135,300,099 (GRCm39) P1645L probably damaging Het
Mrc2 A T 11: 105,183,609 (GRCm39) probably benign Het
Muc4 T A 16: 32,754,689 (GRCm38) M1521K probably benign Het
Mucl3 T A 17: 35,949,312 (GRCm39) T96S probably benign Het
Mylk3 T G 8: 86,081,873 (GRCm39) D438A probably benign Het
Myo7a T A 7: 97,700,833 (GRCm39) probably null Het
Nsmce4a G T 7: 130,135,547 (GRCm39) Q342K probably benign Het
Or10ac1 A G 6: 42,515,053 (GRCm39) I301T possibly damaging Het
Or4c124 T A 2: 89,156,423 (GRCm39) I34F probably benign Het
Or5p60 A G 7: 107,724,068 (GRCm39) L134P probably damaging Het
Or6c65 A T 10: 129,604,136 (GRCm39) Y257F possibly damaging Het
Osbpl6 T A 2: 76,423,730 (GRCm39) F864L probably damaging Het
Pla2g4a A G 1: 149,808,438 (GRCm39) S2P probably benign Het
Plce1 T C 19: 38,640,329 (GRCm39) L525P probably damaging Het
Por A T 5: 135,763,773 (GRCm39) M667L probably benign Het
Psma4 T C 9: 54,862,166 (GRCm39) Y97H probably benign Het
Qtrt1 A T 9: 21,323,753 (GRCm39) H126L probably benign Het
Rab3a A T 8: 71,209,170 (GRCm39) Y102F possibly damaging Het
Rnf212 T A 5: 108,879,555 (GRCm39) H87L probably benign Het
Rnf216 A G 5: 143,076,591 (GRCm39) S98P probably benign Het
Ryr1 G T 7: 28,785,295 (GRCm39) R1806S probably benign Het
Scgb1b3 A T 7: 31,075,262 (GRCm39) L37F probably benign Het
Sds T C 5: 120,617,254 (GRCm39) S37P probably damaging Het
Senp6 A G 9: 80,021,159 (GRCm39) R280G probably damaging Het
She T A 3: 89,761,864 (GRCm39) I441K possibly damaging Het
Slc6a20b A G 9: 123,436,682 (GRCm39) S244P possibly damaging Het
Slc9a3 A T 13: 74,299,004 (GRCm39) Y141F probably damaging Het
Slco6c1 A T 1: 97,009,207 (GRCm39) H426Q probably benign Het
Smc2 C A 4: 52,440,301 (GRCm39) Q16K probably benign Het
Sphkap A C 1: 83,241,547 (GRCm39) V1535G probably benign Het
Stard9 C A 2: 120,532,633 (GRCm39) N2963K probably benign Het
Sycp2 C T 2: 178,035,944 (GRCm39) A248T probably damaging Het
Taar8a T C 10: 23,952,762 (GRCm39) L122P probably damaging Het
Tab1 T A 15: 80,044,445 (GRCm39) V491E probably benign Het
Tanc1 T C 2: 59,636,688 (GRCm39) M857T probably benign Het
Tcirg1 C A 19: 3,949,008 (GRCm39) R427L possibly damaging Het
Tmem109 A C 19: 10,849,124 (GRCm39) *244G probably null Het
Tox2 A G 2: 163,163,435 (GRCm39) Y136C Het
Tubb1 T C 2: 174,298,825 (GRCm39) V169A possibly damaging Het
Ubr3 T C 2: 69,783,886 (GRCm39) probably null Het
Vmn1r225 T A 17: 20,723,059 (GRCm39) F167I probably benign Het
Vmn2r65 A C 7: 84,595,569 (GRCm39) W372G probably damaging Het
Vps13a A T 19: 16,727,537 (GRCm39) D188E probably damaging Het
Vsnl1 G T 12: 11,376,439 (GRCm39) Q149K probably benign Het
Wdr35 A G 12: 9,054,105 (GRCm39) N466S probably benign Het
Ywhae T A 11: 75,650,169 (GRCm39) S210R probably damaging Het
Zfp28 T A 7: 6,397,748 (GRCm39) S728T probably damaging Het
Zfpm1 A G 8: 123,063,698 (GRCm39) D919G unknown Het
Other mutations in Atp9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Atp9a APN 2 168,482,600 (GRCm39) missense probably benign 0.24
IGL01594:Atp9a APN 2 168,532,932 (GRCm39) missense probably damaging 1.00
IGL01911:Atp9a APN 2 168,495,481 (GRCm39) missense probably damaging 1.00
IGL02606:Atp9a APN 2 168,494,588 (GRCm39) missense probably damaging 1.00
IGL02639:Atp9a APN 2 168,491,540 (GRCm39) missense probably damaging 1.00
IGL03011:Atp9a APN 2 168,494,552 (GRCm39) missense probably damaging 1.00
IGL03294:Atp9a APN 2 168,531,225 (GRCm39) missense probably benign 0.04
IGL03310:Atp9a APN 2 168,481,879 (GRCm39) missense probably damaging 1.00
R0114:Atp9a UTSW 2 168,552,776 (GRCm39) nonsense probably null
R0194:Atp9a UTSW 2 168,485,805 (GRCm39) missense probably benign 0.00
R0427:Atp9a UTSW 2 168,482,617 (GRCm39) critical splice acceptor site probably null
R0508:Atp9a UTSW 2 168,491,446 (GRCm39) splice site probably null
R1611:Atp9a UTSW 2 168,515,489 (GRCm39) missense probably damaging 1.00
R2120:Atp9a UTSW 2 168,495,457 (GRCm39) missense probably damaging 1.00
R2330:Atp9a UTSW 2 168,481,849 (GRCm39) missense probably benign 0.01
R2348:Atp9a UTSW 2 168,552,746 (GRCm39) splice site probably benign
R2404:Atp9a UTSW 2 168,517,283 (GRCm39) critical splice acceptor site probably null
R2881:Atp9a UTSW 2 168,548,134 (GRCm39) missense probably damaging 1.00
R2882:Atp9a UTSW 2 168,548,134 (GRCm39) missense probably damaging 1.00
R4029:Atp9a UTSW 2 168,531,245 (GRCm39) missense probably damaging 1.00
R4371:Atp9a UTSW 2 168,491,535 (GRCm39) missense probably damaging 1.00
R4411:Atp9a UTSW 2 168,503,853 (GRCm39) missense probably damaging 1.00
R4446:Atp9a UTSW 2 168,523,917 (GRCm39) missense possibly damaging 0.75
R4583:Atp9a UTSW 2 168,531,280 (GRCm39) splice site probably null
R4626:Atp9a UTSW 2 168,481,863 (GRCm39) missense probably damaging 1.00
R4661:Atp9a UTSW 2 168,479,592 (GRCm39) missense possibly damaging 0.52
R4679:Atp9a UTSW 2 168,503,884 (GRCm39) missense possibly damaging 0.95
R4738:Atp9a UTSW 2 168,510,101 (GRCm39) missense probably benign
R5191:Atp9a UTSW 2 168,503,983 (GRCm39) missense possibly damaging 0.51
R5216:Atp9a UTSW 2 168,516,808 (GRCm39) missense probably benign 0.38
R5280:Atp9a UTSW 2 168,481,908 (GRCm39) missense possibly damaging 0.66
R5509:Atp9a UTSW 2 168,481,857 (GRCm39) missense probably damaging 1.00
R5798:Atp9a UTSW 2 168,532,884 (GRCm39) critical splice donor site probably null
R5807:Atp9a UTSW 2 168,495,454 (GRCm39) missense probably damaging 0.98
R5926:Atp9a UTSW 2 168,548,191 (GRCm39) missense probably damaging 1.00
R6046:Atp9a UTSW 2 168,476,790 (GRCm39) missense probably benign 0.42
R6244:Atp9a UTSW 2 168,531,272 (GRCm39) critical splice acceptor site probably null
R6307:Atp9a UTSW 2 168,510,090 (GRCm39) missense probably benign 0.02
R6345:Atp9a UTSW 2 168,518,093 (GRCm39) missense probably damaging 0.99
R6442:Atp9a UTSW 2 168,491,481 (GRCm39) missense probably benign 0.01
R6459:Atp9a UTSW 2 168,509,933 (GRCm39) missense probably damaging 1.00
R6769:Atp9a UTSW 2 168,516,820 (GRCm39) missense probably damaging 1.00
R6771:Atp9a UTSW 2 168,516,820 (GRCm39) missense probably damaging 1.00
R6841:Atp9a UTSW 2 168,496,140 (GRCm39) missense possibly damaging 0.87
R7271:Atp9a UTSW 2 168,576,047 (GRCm39)
R7490:Atp9a UTSW 2 168,517,272 (GRCm39) missense probably benign 0.00
R7827:Atp9a UTSW 2 168,547,114 (GRCm39) missense probably benign 0.03
R7833:Atp9a UTSW 2 168,516,777 (GRCm39) missense probably benign 0.02
R7854:Atp9a UTSW 2 168,490,523 (GRCm39) missense probably benign 0.02
R7963:Atp9a UTSW 2 168,516,732 (GRCm39) missense probably damaging 1.00
R8331:Atp9a UTSW 2 168,517,217 (GRCm39) missense probably benign 0.01
R8904:Atp9a UTSW 2 168,547,097 (GRCm39) missense probably benign 0.05
R8914:Atp9a UTSW 2 168,479,420 (GRCm39) critical splice donor site probably null
R9129:Atp9a UTSW 2 168,517,205 (GRCm39) missense probably benign 0.00
R9149:Atp9a UTSW 2 168,575,988 (GRCm39) intron probably benign
R9171:Atp9a UTSW 2 168,485,780 (GRCm39) critical splice donor site probably null
R9189:Atp9a UTSW 2 168,518,060 (GRCm39) critical splice donor site probably null
R9299:Atp9a UTSW 2 168,554,666 (GRCm39) start codon destroyed probably null
R9303:Atp9a UTSW 2 168,517,163 (GRCm39) missense probably benign 0.13
R9305:Atp9a UTSW 2 168,517,163 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TCACAGCAGCAGAACTCAGG -3'
(R):5'- CTGAGCACTTAGGCTATGGG -3'

Sequencing Primer
(F):5'- ACTCAGGCTCCTTGTGAAAAG -3'
(R):5'- AGGCTATGGGCTGCAGG -3'
Posted On 2019-10-07