Incidental Mutation 'IGL02715:Atpsckmt'
ID 304707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atpsckmt
Ensembl Gene ENSMUSG00000039065
Gene Name ATP synthase C subunit lysine N-methyltransferase
Synonyms Fam173b, A930016P21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02715
Quality Score
Status
Chromosome 15
Chromosomal Location 31601998-31621373 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31606149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 36 (T36A)
Ref Sequence ENSEMBL: ENSMUSP00000039094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000042702] [ENSMUST00000161061] [ENSMUST00000161266]
AlphaFold Q9D1Z3
Predicted Effect probably benign
Transcript: ENSMUST00000022842
SMART Domains Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 44 537 7.7e-160 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042702
AA Change: T36A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039094
Gene: ENSMUSG00000039065
AA Change: T36A

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
SCOP:d1dusa_ 87 186 2e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160146
Predicted Effect probably benign
Transcript: ENSMUST00000161061
SMART Domains Protein: ENSMUSP00000124619
Gene: ENSMUSG00000039065

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161266
SMART Domains Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 6 199 5.4e-61 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,089,714 (GRCm39) I57V probably damaging Het
Abce1 T A 8: 80,416,990 (GRCm39) E340D probably damaging Het
Agbl2 C T 2: 90,636,212 (GRCm39) R583W probably damaging Het
Aig1 A G 10: 13,744,360 (GRCm39) probably null Het
Brd3 C A 2: 27,344,495 (GRCm39) A412S possibly damaging Het
C3 A G 17: 57,511,158 (GRCm39) probably benign Het
Ccdc127 A G 13: 74,504,893 (GRCm39) E147G probably benign Het
Chrna4 A G 2: 180,671,374 (GRCm39) probably benign Het
Cnn2 T C 10: 79,829,323 (GRCm39) L151P probably damaging Het
Col11a1 G T 3: 113,923,058 (GRCm39) M7I probably benign Het
Cstdc4 T C 16: 36,008,315 (GRCm39) I67T possibly damaging Het
Fastkd1 A G 2: 69,542,469 (GRCm39) probably null Het
Fcho2 A G 13: 98,932,843 (GRCm39) M53T probably damaging Het
Fmnl2 T C 2: 52,962,222 (GRCm39) Y236H possibly damaging Het
G6bos A G 17: 35,284,537 (GRCm39) probably null Het
Gramd1a C T 7: 30,835,279 (GRCm39) G436D probably damaging Het
Hivep2 A G 10: 14,007,131 (GRCm39) Y1243C probably benign Het
Lrit2 A G 14: 36,794,505 (GRCm39) D523G probably benign Het
Lrrc2 A C 9: 110,799,182 (GRCm39) D177A probably damaging Het
Lyst T A 13: 13,848,905 (GRCm39) probably null Het
Mrgpra6 A T 7: 46,838,396 (GRCm39) probably benign Het
Myh6 T C 14: 55,184,365 (GRCm39) probably benign Het
Myzap C A 9: 71,422,397 (GRCm39) E392* probably null Het
Ndst3 G A 3: 123,340,410 (GRCm39) probably benign Het
Nlrc5 C A 8: 95,201,296 (GRCm39) P130H probably damaging Het
Obscn T C 11: 58,971,137 (GRCm39) T2526A probably benign Het
Or1e26 T A 11: 73,479,947 (GRCm39) I206F probably benign Het
Pcnt C A 10: 76,204,556 (GRCm39) probably benign Het
Pfpl T A 19: 12,407,145 (GRCm39) C465* probably null Het
Pkd1l3 T A 8: 110,353,458 (GRCm39) C680S probably damaging Het
Ppp1r10 G T 17: 36,241,604 (GRCm39) G793V unknown Het
Prss27 A T 17: 24,263,953 (GRCm39) D213V possibly damaging Het
Sh2d5 T C 4: 137,984,018 (GRCm39) probably benign Het
Spata31d1a T C 13: 59,851,549 (GRCm39) D193G probably benign Het
Sptan1 T C 2: 29,868,588 (GRCm39) V66A probably benign Het
Synpr T C 14: 13,608,618 (GRCm38) S133P probably damaging Het
Tagln3 T C 16: 45,544,588 (GRCm39) N28D probably benign Het
Tfrc A G 16: 32,443,189 (GRCm39) T494A probably benign Het
Tmem38a T C 8: 73,333,512 (GRCm39) I77T possibly damaging Het
Tmem42 C A 9: 122,851,295 (GRCm39) T86N probably damaging Het
Ttc8 T A 12: 98,910,179 (GRCm39) probably benign Het
Tub G A 7: 108,628,517 (GRCm39) V342I probably benign Het
Vmn2r103 A T 17: 20,014,218 (GRCm39) I337F probably damaging Het
Xkr7 A G 2: 152,896,277 (GRCm39) E377G probably damaging Het
Zfp292 C T 4: 34,819,542 (GRCm39) G260D probably damaging Het
Other mutations in Atpsckmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Atpsckmt APN 15 31,606,261 (GRCm39) missense possibly damaging 0.89
R0414:Atpsckmt UTSW 15 31,617,148 (GRCm39) nonsense probably null
R0462:Atpsckmt UTSW 15 31,617,018 (GRCm39) missense probably damaging 1.00
R0518:Atpsckmt UTSW 15 31,606,103 (GRCm39) missense probably benign 0.05
R0521:Atpsckmt UTSW 15 31,606,103 (GRCm39) missense probably benign 0.05
R1692:Atpsckmt UTSW 15 31,602,297 (GRCm39) critical splice donor site probably null
R2141:Atpsckmt UTSW 15 31,609,718 (GRCm39) missense probably benign 0.09
R4719:Atpsckmt UTSW 15 31,608,243 (GRCm39) missense probably damaging 1.00
R5984:Atpsckmt UTSW 15 31,617,065 (GRCm39) nonsense probably null
R6113:Atpsckmt UTSW 15 31,608,308 (GRCm39) missense probably damaging 1.00
R6899:Atpsckmt UTSW 15 31,617,257 (GRCm39) missense probably benign 0.03
R7575:Atpsckmt UTSW 15 31,606,186 (GRCm39) missense probably damaging 1.00
R7577:Atpsckmt UTSW 15 31,606,186 (GRCm39) missense probably damaging 1.00
R8024:Atpsckmt UTSW 15 31,608,317 (GRCm39) missense probably damaging 1.00
R9043:Atpsckmt UTSW 15 31,617,101 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16