Incidental Mutation 'R8815:Atp10b'
ID 672686
Institutional Source Beutler Lab
Gene Symbol Atp10b
Ensembl Gene ENSMUSG00000055415
Gene Name ATPase, class V, type 10B
Synonyms 9030605H24Rik, 5930426O13Rik
MMRRC Submission 068650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R8815 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 43040704-43153112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43093978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 507 (R507S)
Ref Sequence ENSEMBL: ENSMUSP00000076844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077659]
AlphaFold B1AWN4
Predicted Effect possibly damaging
Transcript: ENSMUST00000077659
AA Change: R507S

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: R507S

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 47 118 3.8e-26 PFAM
Pfam:E1-E2_ATPase 123 393 2.9e-7 PFAM
low complexity region 621 638 N/A INTRINSIC
Pfam:Cation_ATPase 692 799 7.1e-9 PFAM
Pfam:HAD 705 1062 6.7e-12 PFAM
Pfam:PhoLip_ATPase_C 1079 1324 1.9e-79 PFAM
low complexity region 1353 1366 N/A INTRINSIC
low complexity region 1457 1471 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,421,943 (GRCm39) Q106H probably damaging Het
Acad9 T C 3: 36,139,590 (GRCm39) C397R probably damaging Het
Ankfn1 T G 11: 89,282,602 (GRCm39) R348S probably damaging Het
Ankrd61 A G 5: 143,831,336 (GRCm39) C28R probably benign Het
Ano5 C T 7: 51,194,548 (GRCm39) R94* probably null Het
Apela A T 8: 65,489,590 (GRCm39) F10I unknown Het
Arhgap31 T C 16: 38,429,790 (GRCm39) S362G probably benign Het
Arhgef18 C A 8: 3,430,410 (GRCm39) H94Q probably benign Het
Astn2 A T 4: 65,830,834 (GRCm39) L585Q possibly damaging Het
Atf3 G T 1: 190,909,564 (GRCm39) A35D probably benign Het
Brip1 A C 11: 86,080,598 (GRCm39) V156G probably benign Het
Ccdc27 T A 4: 154,111,205 (GRCm39) M636L probably benign Het
Ceacam5 T A 7: 17,493,285 (GRCm39) N769K possibly damaging Het
Cklf C T 8: 104,977,560 (GRCm39) probably benign Het
Cpeb4 G A 11: 31,870,546 (GRCm39) V474M probably damaging Het
Dip2c T A 13: 9,673,834 (GRCm39) C1091* probably null Het
Eef1akmt4 T A 16: 20,437,288 (GRCm39) I210N possibly damaging Het
Fbxo38 A T 18: 62,666,587 (GRCm39) H195Q probably damaging Het
Fbxw14 G A 9: 109,105,305 (GRCm39) R287* probably null Het
Fes A G 7: 80,033,619 (GRCm39) S211P possibly damaging Het
Fry G T 5: 150,317,603 (GRCm39) R861L possibly damaging Het
Galnt12 A G 4: 47,113,908 (GRCm39) probably benign Het
Gm14226 G A 2: 154,866,538 (GRCm39) W165* probably null Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gprc6a A G 10: 51,497,079 (GRCm39) V488A probably benign Het
Haus8 A T 8: 71,705,910 (GRCm39) probably benign Het
Helb A T 10: 119,948,692 (GRCm39) C26S possibly damaging Het
Icam1 A T 9: 20,937,862 (GRCm39) I300F probably benign Het
Ip6k1 A G 9: 107,918,211 (GRCm39) N181S probably benign Het
Itga2b C A 11: 102,351,687 (GRCm39) R546L possibly damaging Het
Kif27 A T 13: 58,476,818 (GRCm39) Y611N probably damaging Het
Lpcat2 A G 8: 93,640,979 (GRCm39) I475V possibly damaging Het
Lrit2 A G 14: 36,794,487 (GRCm39) K517R probably benign Het
Lrp1b A T 2: 40,555,171 (GRCm39) I4085N Het
Lrrc32 T A 7: 98,148,242 (GRCm39) S341T probably damaging Het
Lrrn2 T A 1: 132,866,831 (GRCm39) I632K possibly damaging Het
Mettl22 A G 16: 8,300,178 (GRCm39) Q194R probably benign Het
Mfhas1 T A 8: 36,057,394 (GRCm39) V623E probably damaging Het
Mitd1 T C 1: 37,929,315 (GRCm39) D26G probably damaging Het
Myo1a C T 10: 127,546,043 (GRCm39) T222M probably benign Het
Naf1 A G 8: 67,317,333 (GRCm39) K275R possibly damaging Het
Nf1 T C 11: 79,332,491 (GRCm39) L765P probably damaging Het
Or12k7 G T 2: 36,958,429 (GRCm39) M37I probably benign Het
Or52a5 A G 7: 103,427,063 (GRCm39) L163P possibly damaging Het
Or5ac16 T A 16: 59,022,264 (GRCm39) H175L possibly damaging Het
Or9r3 T A 10: 129,947,808 (GRCm39) I284F probably damaging Het
Pappa A G 4: 65,099,347 (GRCm39) H622R probably benign Het
Pcdhb4 A T 18: 37,442,055 (GRCm39) Y455F probably damaging Het
Pepd A G 7: 34,671,116 (GRCm39) Y220C probably damaging Het
Pias3 T C 3: 96,607,381 (GRCm39) I172T probably damaging Het
Polq T A 16: 36,853,893 (GRCm39) H415Q probably damaging Het
Pp2d1 A T 17: 53,814,897 (GRCm39) M609K probably benign Het
Ppm1m G A 9: 106,076,237 (GRCm39) probably benign Het
Prss22 T A 17: 24,215,662 (GRCm39) T87S probably benign Het
Ptprf C A 4: 118,095,125 (GRCm39) V254L possibly damaging Het
Ripply3 A G 16: 94,136,723 (GRCm39) E128G possibly damaging Het
Rrm2 A C 12: 24,760,470 (GRCm39) I185L possibly damaging Het
Sbsn T A 7: 30,454,227 (GRCm39) probably benign Het
Sdc3 T A 4: 130,546,336 (GRCm39) S232T probably benign Het
Slx4 G C 16: 3,803,458 (GRCm39) P1119A probably benign Het
Smc5 C T 19: 23,221,422 (GRCm39) R369Q probably damaging Het
Speer4a3 A G 5: 26,158,191 (GRCm39) S54P probably damaging Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Sptbn4 G A 7: 27,106,657 (GRCm39) Q924* probably null Het
Srcap G C 7: 127,158,037 (GRCm39) D2638H unknown Het
Srsf12 T C 4: 33,226,045 (GRCm39) S103P possibly damaging Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Them4 C T 3: 94,231,610 (GRCm39) T149I probably damaging Het
Trpc7 T C 13: 56,970,312 (GRCm39) Y424C possibly damaging Het
Ttn C T 2: 76,628,364 (GRCm39) D14599N probably damaging Het
Ttn A T 2: 76,698,244 (GRCm39) L186H Het
Usp17lc T C 7: 103,067,524 (GRCm39) F273S probably benign Het
Vwa5b2 T C 16: 20,419,516 (GRCm39) S620P probably damaging Het
Other mutations in Atp10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Atp10b APN 11 43,092,988 (GRCm39) missense probably damaging 1.00
IGL01385:Atp10b APN 11 43,125,256 (GRCm39) missense probably damaging 1.00
IGL01524:Atp10b APN 11 43,150,672 (GRCm39) missense probably benign 0.18
IGL01575:Atp10b APN 11 43,063,548 (GRCm39) missense probably benign 0.00
IGL01588:Atp10b APN 11 43,063,548 (GRCm39) missense probably benign 0.00
IGL01590:Atp10b APN 11 43,063,548 (GRCm39) missense probably benign 0.00
IGL01832:Atp10b APN 11 43,125,262 (GRCm39) missense probably damaging 0.98
IGL01927:Atp10b APN 11 43,150,231 (GRCm39) splice site probably benign
IGL01933:Atp10b APN 11 43,085,457 (GRCm39) missense probably damaging 1.00
IGL02182:Atp10b APN 11 43,139,774 (GRCm39) missense probably damaging 1.00
IGL02215:Atp10b APN 11 43,085,492 (GRCm39) critical splice donor site probably null
IGL02216:Atp10b APN 11 43,150,616 (GRCm39) missense probably damaging 0.98
IGL02973:Atp10b APN 11 43,088,336 (GRCm39) missense probably damaging 1.00
IGL03012:Atp10b APN 11 43,085,482 (GRCm39) missense probably damaging 0.99
IGL03106:Atp10b APN 11 43,138,304 (GRCm39) missense probably benign 0.32
IGL03123:Atp10b APN 11 43,044,110 (GRCm39) missense probably benign 0.01
IGL03202:Atp10b APN 11 43,125,268 (GRCm39) critical splice donor site probably null
IGL03339:Atp10b APN 11 43,121,442 (GRCm39) missense probably null 0.71
R0053:Atp10b UTSW 11 43,107,391 (GRCm39) splice site probably benign
R0053:Atp10b UTSW 11 43,107,391 (GRCm39) splice site probably benign
R0098:Atp10b UTSW 11 43,080,431 (GRCm39) missense probably benign 0.00
R0098:Atp10b UTSW 11 43,080,431 (GRCm39) missense probably benign 0.00
R0281:Atp10b UTSW 11 43,044,131 (GRCm39) missense probably benign 0.00
R0379:Atp10b UTSW 11 43,145,141 (GRCm39) missense probably benign 0.05
R0380:Atp10b UTSW 11 43,116,424 (GRCm39) missense probably damaging 1.00
R0470:Atp10b UTSW 11 43,093,866 (GRCm39) missense possibly damaging 0.88
R1355:Atp10b UTSW 11 43,042,482 (GRCm39) nonsense probably null
R1368:Atp10b UTSW 11 43,092,981 (GRCm39) missense probably damaging 1.00
R1370:Atp10b UTSW 11 43,042,482 (GRCm39) nonsense probably null
R1413:Atp10b UTSW 11 43,121,391 (GRCm39) missense probably benign 0.00
R1502:Atp10b UTSW 11 43,121,174 (GRCm39) missense probably damaging 1.00
R1530:Atp10b UTSW 11 43,088,351 (GRCm39) missense probably benign 0.03
R1596:Atp10b UTSW 11 43,126,594 (GRCm39) missense probably damaging 1.00
R1675:Atp10b UTSW 11 43,116,475 (GRCm39) missense probably damaging 1.00
R1880:Atp10b UTSW 11 43,150,259 (GRCm39) missense probably damaging 1.00
R1938:Atp10b UTSW 11 43,121,245 (GRCm39) missense probably benign 0.00
R1986:Atp10b UTSW 11 43,063,595 (GRCm39) missense probably benign 0.12
R2081:Atp10b UTSW 11 43,092,955 (GRCm39) missense probably damaging 1.00
R2083:Atp10b UTSW 11 43,103,250 (GRCm39) missense probably benign 0.24
R2159:Atp10b UTSW 11 43,042,680 (GRCm39) missense possibly damaging 0.81
R2255:Atp10b UTSW 11 43,125,207 (GRCm39) missense probably damaging 1.00
R2259:Atp10b UTSW 11 43,080,440 (GRCm39) missense probably damaging 1.00
R2259:Atp10b UTSW 11 43,063,572 (GRCm39) missense probably damaging 1.00
R3741:Atp10b UTSW 11 43,126,489 (GRCm39) missense probably damaging 1.00
R3942:Atp10b UTSW 11 43,063,581 (GRCm39) missense probably damaging 1.00
R3971:Atp10b UTSW 11 43,107,339 (GRCm39) missense probably damaging 1.00
R4007:Atp10b UTSW 11 43,150,679 (GRCm39) missense probably benign 0.04
R4050:Atp10b UTSW 11 43,150,363 (GRCm39) missense probably benign 0.00
R4078:Atp10b UTSW 11 43,044,110 (GRCm39) missense probably benign 0.01
R4567:Atp10b UTSW 11 43,088,384 (GRCm39) missense probably benign 0.03
R4651:Atp10b UTSW 11 43,085,472 (GRCm39) missense probably damaging 1.00
R4652:Atp10b UTSW 11 43,085,472 (GRCm39) missense probably damaging 1.00
R4667:Atp10b UTSW 11 43,138,345 (GRCm39) missense probably damaging 1.00
R4720:Atp10b UTSW 11 43,093,949 (GRCm39) missense probably benign
R4987:Atp10b UTSW 11 43,042,440 (GRCm39) utr 5 prime probably benign
R5232:Atp10b UTSW 11 43,093,006 (GRCm39) missense probably damaging 1.00
R5233:Atp10b UTSW 11 43,121,387 (GRCm39) missense probably benign 0.06
R5281:Atp10b UTSW 11 43,145,163 (GRCm39) missense probably damaging 0.97
R5307:Atp10b UTSW 11 43,103,302 (GRCm39) missense probably damaging 1.00
R5460:Atp10b UTSW 11 43,121,282 (GRCm39) missense probably benign 0.00
R5518:Atp10b UTSW 11 43,042,463 (GRCm39) missense possibly damaging 0.84
R5659:Atp10b UTSW 11 43,136,252 (GRCm39) missense probably damaging 1.00
R5688:Atp10b UTSW 11 43,092,000 (GRCm39) missense probably benign 0.00
R5735:Atp10b UTSW 11 43,042,601 (GRCm39) missense probably benign 0.00
R6153:Atp10b UTSW 11 43,145,109 (GRCm39) missense probably damaging 1.00
R6251:Atp10b UTSW 11 43,126,573 (GRCm39) missense possibly damaging 0.95
R6259:Atp10b UTSW 11 43,092,065 (GRCm39) missense probably benign 0.24
R6394:Atp10b UTSW 11 43,116,464 (GRCm39) missense probably damaging 1.00
R6492:Atp10b UTSW 11 43,109,784 (GRCm39) missense probably damaging 1.00
R6769:Atp10b UTSW 11 43,094,079 (GRCm39) critical splice donor site probably null
R6771:Atp10b UTSW 11 43,094,079 (GRCm39) critical splice donor site probably null
R6775:Atp10b UTSW 11 43,113,040 (GRCm39) missense possibly damaging 0.80
R7134:Atp10b UTSW 11 43,136,291 (GRCm39) missense probably damaging 1.00
R7322:Atp10b UTSW 11 43,103,374 (GRCm39) missense probably damaging 1.00
R7367:Atp10b UTSW 11 43,138,328 (GRCm39) missense probably damaging 1.00
R7538:Atp10b UTSW 11 43,116,373 (GRCm39) missense probably benign 0.04
R7708:Atp10b UTSW 11 43,092,970 (GRCm39) missense probably damaging 1.00
R7787:Atp10b UTSW 11 43,150,700 (GRCm39) missense possibly damaging 0.91
R8145:Atp10b UTSW 11 43,092,949 (GRCm39) missense probably damaging 1.00
R8406:Atp10b UTSW 11 43,093,984 (GRCm39) missense probably benign 0.00
R8503:Atp10b UTSW 11 43,113,066 (GRCm39) missense possibly damaging 0.92
R8542:Atp10b UTSW 11 43,121,208 (GRCm39) missense probably benign 0.18
R8744:Atp10b UTSW 11 43,121,177 (GRCm39) missense probably damaging 1.00
R8833:Atp10b UTSW 11 43,112,986 (GRCm39) missense probably damaging 1.00
R8880:Atp10b UTSW 11 43,106,811 (GRCm39) missense probably benign
R8989:Atp10b UTSW 11 43,136,269 (GRCm39) nonsense probably null
R8998:Atp10b UTSW 11 43,150,726 (GRCm39) makesense probably null
R9255:Atp10b UTSW 11 43,107,148 (GRCm39) missense probably damaging 1.00
R9281:Atp10b UTSW 11 43,116,458 (GRCm39) missense probably benign 0.11
R9345:Atp10b UTSW 11 43,094,024 (GRCm39) missense probably damaging 0.99
R9357:Atp10b UTSW 11 43,150,711 (GRCm39) missense probably benign 0.18
R9393:Atp10b UTSW 11 43,063,608 (GRCm39) missense probably damaging 1.00
R9516:Atp10b UTSW 11 43,121,224 (GRCm39) missense probably benign 0.02
R9644:Atp10b UTSW 11 43,042,659 (GRCm39) missense probably damaging 1.00
R9747:Atp10b UTSW 11 43,088,339 (GRCm39) missense probably benign
Z1177:Atp10b UTSW 11 43,044,176 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GCAACCCAGATACAGTTTTCC -3'
(R):5'- GGCTCTGCTATATCCTAGAGCC -3'

Sequencing Primer
(F):5'- CCTGAAGTCTAGCATCCCCC -3'
(R):5'- GCTCTGCTATATCCTAGAGCCTTCTC -3'
Posted On 2021-04-30