Incidental Mutation 'R4496:Atp11c'
ID 331002
Institutional Source Beutler Lab
Gene Symbol Atp11c
Ensembl Gene ENSMUSG00000062949
Gene Name ATPase, class VI, type 11C
Synonyms A330005H02Rik, Ig
MMRRC Submission 041749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R4496 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 59268643-59450041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59326104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 478 (D478G)
Ref Sequence ENSEMBL: ENSMUSP00000033480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033480] [ENSMUST00000101527] [ENSMUST00000154051]
AlphaFold Q9QZW0
Predicted Effect probably damaging
Transcript: ENSMUST00000033480
AA Change: D478G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033480
Gene: ENSMUSG00000062949
AA Change: D478G

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Pfam:E1-E2_ATPase 94 379 5.2e-18 PFAM
Pfam:Hydrolase 403 827 1.6e-12 PFAM
Pfam:HAD 406 825 9.2e-21 PFAM
Pfam:Hydrolase_like2 467 576 1.3e-14 PFAM
low complexity region 853 865 N/A INTRINSIC
low complexity region 994 1013 N/A INTRINSIC
low complexity region 1068 1085 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000101527
AA Change: D478G

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099066
Gene: ENSMUSG00000062949
AA Change: D478G

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Pfam:E1-E2_ATPase 94 379 1.2e-17 PFAM
Pfam:Hydrolase 403 827 1.8e-12 PFAM
Pfam:HAD 406 825 1.4e-20 PFAM
Pfam:Hydrolase_like2 467 576 3.7e-14 PFAM
low complexity region 853 865 N/A INTRINSIC
low complexity region 994 1013 N/A INTRINSIC
low complexity region 1068 1085 N/A INTRINSIC
low complexity region 1091 1105 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138569
Predicted Effect possibly damaging
Transcript: ENSMUST00000154051
AA Change: D478G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119320
Gene: ENSMUSG00000062949
AA Change: D478G

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 22 91 2.6e-25 PFAM
Pfam:E1-E2_ATPase 96 371 2.7e-13 PFAM
Pfam:Hydrolase 403 725 2.4e-7 PFAM
Pfam:HAD 406 825 3.4e-19 PFAM
Pfam:Cation_ATPase 467 576 8.6e-14 PFAM
Pfam:PhoLip_ATPase_C 842 1094 3.4e-71 PFAM
Meta Mutation Damage Score 0.1618 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
MGI Phenotype PHENOTYPE: Mice homozygous or hemizygous for an ENU mutation exhibit decreased B cells associated with arrested adult B cell lymphopoiesis. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,602,947 (GRCm39) L514H possibly damaging Het
Abca7 T C 10: 79,838,768 (GRCm39) F647S probably damaging Het
Ahi1 A G 10: 20,841,444 (GRCm39) K244E probably benign Het
Ankhd1 G A 18: 36,693,839 (GRCm39) D17N probably damaging Het
Arvcf G T 16: 18,223,932 (GRCm39) K890N probably damaging Het
Atosa T A 9: 74,938,813 (GRCm39) S1038T probably damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Clca3a2 C T 3: 144,797,926 (GRCm39) D180N possibly damaging Het
Comt T C 16: 18,230,437 (GRCm39) probably null Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Cyp2d11 C T 15: 82,276,149 (GRCm39) probably benign Het
Fam169b G T 7: 68,007,954 (GRCm39) C289F possibly damaging Het
Fastkd5 T C 2: 130,458,501 (GRCm39) T30A probably benign Het
Fchsd2 A C 7: 100,931,702 (GRCm39) T753P probably benign Het
Gatd3a T C 10: 77,999,377 (GRCm39) I145V probably damaging Het
Glis3 G A 19: 28,643,527 (GRCm39) S5L possibly damaging Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Gpt A T 15: 76,582,663 (GRCm39) Q276L probably damaging Het
Gtf3c3 G T 1: 54,463,291 (GRCm39) S302R probably benign Het
Hnrnpc A G 14: 52,312,888 (GRCm39) S229P probably benign Het
Ikzf5 T C 7: 130,998,393 (GRCm39) probably null Het
Mal2 T C 15: 54,461,835 (GRCm39) V110A probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo3b A G 2: 70,084,748 (GRCm39) D702G probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nat10 T A 2: 103,588,084 (GRCm39) I14F probably damaging Het
Nat14 C T 7: 4,926,918 (GRCm39) T30M probably damaging Het
Ndst4 C A 3: 125,476,922 (GRCm39) A49D probably damaging Het
Nnt A T 13: 119,518,301 (GRCm39) M292K probably damaging Het
Obox7 C T 7: 14,399,299 (GRCm39) T175I probably benign Het
Or2t26 T A 11: 49,039,214 (GRCm39) N43K possibly damaging Het
Or6c5c T G 10: 129,299,430 (GRCm39) V295G possibly damaging Het
Plekhm3 T C 1: 64,900,395 (GRCm39) E634G probably damaging Het
Plxdc2 T A 2: 16,517,040 (GRCm39) I107K probably damaging Het
Psmb10 T A 8: 106,662,660 (GRCm39) R226S probably damaging Het
Ptprr T A 10: 116,065,407 (GRCm39) V160E possibly damaging Het
Sema5a T A 15: 32,641,133 (GRCm39) L649H probably damaging Het
Sephs1 T A 2: 4,911,494 (GRCm39) I356K probably benign Het
Serpinb3d C T 1: 107,007,022 (GRCm39) V229M probably damaging Het
Slc7a4 T C 16: 17,393,676 (GRCm39) D41G probably damaging Het
Sort1 T C 3: 108,217,461 (GRCm39) V121A probably benign Het
Tcf20 C A 15: 82,739,185 (GRCm39) Q755H probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttll13 A T 7: 79,906,667 (GRCm39) Y445F probably benign Het
Usp40 T C 1: 87,923,459 (GRCm39) I271V possibly damaging Het
Vmn1r72 A G 7: 11,403,791 (GRCm39) I219T probably damaging Het
Other mutations in Atp11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
18nih30a APN X 36,608,577 (GRCm38) unclassified probably benign
ambrosius APN X 36,608,577 (GRCm38) unclassified probably benign
IGL00578:Atp11c APN X 59,286,177 (GRCm39) missense probably damaging 1.00
IGL01702:Atp11c APN X 59,315,263 (GRCm39) missense probably damaging 0.96
emptyhive UTSW X 59,315,347 (GRCm39) nonsense probably null
hit UTSW X 0 () nonsense
spelling UTSW X 59,335,396 (GRCm39) missense probably damaging 1.00
R1551:Atp11c UTSW X 59,282,072 (GRCm39) critical splice acceptor site probably null
R2134:Atp11c UTSW X 59,322,143 (GRCm39) missense probably damaging 1.00
R3687:Atp11c UTSW X 59,327,004 (GRCm39) missense probably benign 0.07
R3688:Atp11c UTSW X 59,327,004 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GGCACATGACTGAGTTACTGAAG -3'
(R):5'- GGAACCAGTAATTGTATTCGTTGC -3'

Sequencing Primer
(F):5'- CATGACTGAGTTACTGAAGCAAATG -3'
(R):5'- AATTGTATTCGTTGCTATGTAGTCG -3'
Posted On 2015-07-21