Incidental Mutation 'R4651:Atp10b'
ID 351306
Institutional Source Beutler Lab
Gene Symbol Atp10b
Ensembl Gene ENSMUSG00000055415
Gene Name ATPase, class V, type 10B
Synonyms 9030605H24Rik, 5930426O13Rik
MMRRC Submission 041911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R4651 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 43040704-43153112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43085472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 284 (G284S)
Ref Sequence ENSEMBL: ENSMUSP00000076844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077659]
AlphaFold B1AWN4
Predicted Effect probably damaging
Transcript: ENSMUST00000077659
AA Change: G284S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076844
Gene: ENSMUSG00000055415
AA Change: G284S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137991
Meta Mutation Damage Score 0.5102 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (98/101)
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Ahnak2 T G 12: 112,741,271 (GRCm39) S128R possibly damaging Het
Ankrd26 T C 6: 118,492,787 (GRCm39) D1319G probably benign Het
Ankrd35 T C 3: 96,591,343 (GRCm39) V543A probably benign Het
Ano10 A T 9: 122,090,181 (GRCm39) Y377* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp5f1c A G 2: 10,068,287 (GRCm39) F180S probably damaging Het
Btnl4 A G 17: 34,691,602 (GRCm39) S296P probably benign Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Catsperb G A 12: 101,507,771 (GRCm39) A513T probably benign Het
Ccnf C A 17: 24,450,760 (GRCm39) R406L probably damaging Het
Ceacam12 A G 7: 17,801,359 (GRCm39) T113A probably damaging Het
Cipc T C 12: 87,008,864 (GRCm39) V241A probably benign Het
Col12a1 A T 9: 79,520,228 (GRCm39) D2815E probably damaging Het
Cpox G T 16: 58,491,050 (GRCm39) R87L possibly damaging Het
Cttnbp2 A G 6: 18,434,037 (GRCm39) I607T possibly damaging Het
Cux1 A T 5: 136,596,083 (GRCm39) N4K probably damaging Het
Cyp3a25 T C 5: 145,931,701 (GRCm39) T136A probably benign Het
Dhx58 T A 11: 100,592,185 (GRCm39) N288Y probably damaging Het
Dnah10 T C 5: 124,806,207 (GRCm39) Y127H probably benign Het
Dnd1 G A 18: 36,898,114 (GRCm39) probably benign Het
Ehmt2 C A 17: 35,132,790 (GRCm39) N1171K probably damaging Het
Fanci T A 7: 79,085,004 (GRCm39) M838K possibly damaging Het
Flot1 T C 17: 36,143,436 (GRCm39) probably benign Het
Gad2 A T 2: 22,558,374 (GRCm39) D364V probably damaging Het
Gm10375 C A 14: 43,844,326 (GRCm39) probably null Het
Gm9996 T A 10: 29,019,754 (GRCm39) probably benign Het
Gnat3 T A 5: 18,220,568 (GRCm39) L247H probably damaging Het
Ip6k3 C T 17: 27,364,265 (GRCm39) C261Y probably damaging Het
Irgc C A 7: 24,132,238 (GRCm39) R193L probably damaging Het
Kalrn G T 16: 33,996,761 (GRCm39) P1477Q probably damaging Het
Kyat1 G T 2: 30,084,076 (GRCm39) H15N probably benign Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrc9 T C 12: 72,524,160 (GRCm39) W790R probably damaging Het
Lsm2 T A 17: 35,204,571 (GRCm39) probably benign Het
Med8 A T 4: 118,268,089 (GRCm39) E5V probably damaging Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Mettl25b T C 3: 87,834,979 (GRCm39) H107R probably benign Het
Mettl3 T A 14: 52,532,549 (GRCm39) I545F probably damaging Het
Naa20 CTCTAGA C 2: 145,753,752 (GRCm39) probably benign Het
Ncapg2 T A 12: 116,389,407 (GRCm39) N342K probably damaging Het
Ndufaf6 T A 4: 11,062,070 (GRCm39) Y187F probably damaging Het
Nomo1 T A 7: 45,717,866 (GRCm39) I799N probably damaging Het
Obscn G A 11: 58,929,703 (GRCm39) R5824C probably damaging Het
Or4f6 G T 2: 111,838,595 (GRCm39) S312Y probably damaging Het
Or6c214 T C 10: 129,591,287 (GRCm39) I11V probably benign Het
Or6n2 A G 1: 173,897,394 (GRCm39) I177V possibly damaging Het
Or7g30 T A 9: 19,352,591 (GRCm39) C127* probably null Het
Pgm3 T A 9: 86,440,523 (GRCm39) R389S probably benign Het
Pkd2l2 A T 18: 34,542,889 (GRCm39) R20* probably null Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Ppp4r3a T A 12: 101,049,170 (GRCm39) probably benign Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Prrc2c A T 1: 162,550,843 (GRCm39) H40Q probably damaging Het
Ptprk T C 10: 28,139,686 (GRCm39) I137T probably damaging Het
Sdr42e1 T C 8: 118,390,360 (GRCm39) T94A probably benign Het
Setd2 A G 9: 110,423,200 (GRCm39) D2085G possibly damaging Het
Sgce T C 6: 4,689,560 (GRCm39) probably benign Het
Shisa3 A G 5: 67,765,992 (GRCm39) D81G probably damaging Het
Sipa1l1 T A 12: 82,469,245 (GRCm39) L1248* probably null Het
Skint7 T G 4: 111,839,309 (GRCm39) M201R probably damaging Het
Slc5a3 T A 16: 91,874,090 (GRCm39) V49E probably benign Het
Slc9c1 A T 16: 45,367,756 (GRCm39) *163L probably null Het
Smyd3 A G 1: 178,871,306 (GRCm39) Y358H probably benign Het
Srp68 A T 11: 116,164,840 (GRCm39) S31R probably benign Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Strc A T 2: 121,204,829 (GRCm39) D985E possibly damaging Het
Syne2 A G 12: 76,036,013 (GRCm39) T3767A probably damaging Het
Sytl2 C A 7: 90,024,633 (GRCm39) P207Q probably damaging Het
Tbc1d2b A G 9: 90,089,940 (GRCm39) F863S probably damaging Het
Tek T C 4: 94,669,121 (GRCm39) S41P probably damaging Het
Top1 T C 2: 160,554,637 (GRCm39) Y463H probably damaging Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Ttn A G 2: 76,576,979 (GRCm39) V24638A possibly damaging Het
Ttn A G 2: 76,701,213 (GRCm39) probably benign Het
Tyro3 G C 2: 119,647,349 (GRCm39) G826A probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,587 (GRCm39) W410R probably benign Het
Unc45a T C 7: 79,982,777 (GRCm39) K383E possibly damaging Het
Usp7 A C 16: 8,516,278 (GRCm39) probably benign Het
Vmn1r193 C T 13: 22,403,695 (GRCm39) G99D probably damaging Het
Vrk2 T C 11: 26,439,803 (GRCm39) D256G probably damaging Het
Wdr81 A G 11: 75,342,066 (GRCm39) V1067A probably damaging Het
Wiz C T 17: 32,576,655 (GRCm39) R624Q probably damaging Het
Zcwpw2 A G 9: 117,843,119 (GRCm39) noncoding transcript 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
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
R8815:Atp10b UTSW 11 43,093,978 (GRCm39) missense possibly damaging 0.63
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'- GCCATGGTTGCTGAAACAGG -3'
(R):5'- ACAGAGTGAGTGAGCTCCTG -3'

Sequencing Primer
(F):5'- CTGAAACAGGGGAATGAATTGCTTTC -3'
(R):5'- GTCGCCACCAACCTTTGCAAG -3'
Posted On 2015-10-08