Incidental Mutation 'R8359:Atpaf2'
ID645929
Institutional Source Beutler Lab
Gene Symbol Atpaf2
Ensembl Gene ENSMUSG00000042709
Gene NameATP synthase mitochondrial F1 complex assembly factor 2
SynonymsATP12p, ATP12
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8359 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location60400626-60418457 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60407303 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 147 (D147G)
Ref Sequence ENSEMBL: ENSMUSP00000104361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108721] [ENSMUST00000145532]
Predicted Effect probably damaging
Transcript: ENSMUST00000108721
AA Change: D147G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104361
Gene: ENSMUSG00000042709
AA Change: D147G

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Pfam:ATP12 56 177 7.9e-43 PFAM
low complexity region 227 237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000145532
AA Change: D147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135761
Gene: ENSMUSG00000042709
AA Change: D147G

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Pfam:ATP12 56 154 9.3e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,806,486 V315D probably damaging Het
Adgrf1 A T 17: 43,310,395 I508F probably damaging Het
Brwd1 T C 16: 96,016,209 T1368A probably damaging Het
Cacna1s A T 1: 136,116,061 E1626V probably benign Het
Carm1 G A 9: 21,569,469 V80I possibly damaging Het
Casc4 A T 2: 121,867,151 probably benign Het
Cenpw T A 10: 30,198,488 D71V probably damaging Het
Ckmt1 A T 2: 121,363,050 T364S probably benign Het
Col6a4 T C 9: 106,068,384 S844G probably benign Het
Crybg1 T C 10: 43,992,542 E1380G probably benign Het
Cyp21a1 A G 17: 34,802,131 probably null Het
D430042O09Rik T C 7: 125,868,851 probably null Het
Dhodh A C 8: 109,606,406 D12E probably benign Het
Dnali1 T A 4: 125,063,667 T95S probably damaging Het
Dynlrb1 A G 2: 155,249,950 N93D probably benign Het
Edem1 C T 6: 108,846,813 A390V probably benign Het
Enthd1 T C 15: 80,474,155 D388G probably benign Het
Fam170a A G 18: 50,281,610 T108A probably damaging Het
Fryl A G 5: 73,075,933 S1531P probably benign Het
Hspbap1 C A 16: 35,824,996 N350K probably benign Het
Htr3b A C 9: 48,947,296 S94R probably damaging Het
Ide A T 19: 37,330,487 V42E Het
Igf2r A G 17: 12,683,861 V2434A probably benign Het
Kif16b G A 2: 142,711,857 A1007V probably benign Het
Mccc1 C T 3: 35,964,344 V614I probably benign Het
Mos A G 4: 3,871,097 Y240H probably damaging Het
Myh11 C T 16: 14,208,231 probably null Het
Nexn T A 3: 152,248,361 D166V probably damaging Het
Olfr328 G T 11: 58,552,203 T12N probably benign Het
Olfr510 T A 7: 108,668,311 N298K probably benign Het
Olfr55 G A 17: 33,176,921 C173Y probably damaging Het
Pkp4 A G 2: 59,350,551 Y1061C probably damaging Het
Pla2g6 T C 15: 79,287,170 D740G probably damaging Het
Pla2r1 T A 2: 60,443,283 I920L probably benign Het
Plekha2 A G 8: 25,088,391 I31T probably damaging Het
Ppp1r16b G T 2: 158,761,375 V407L probably benign Het
Prss50 A G 9: 110,862,302 I225V probably damaging Het
Rmdn2 A T 17: 79,628,151 E231V Het
Sema3c T C 5: 17,653,728 S42P possibly damaging Het
Slc22a20 T C 19: 5,971,526 I483V probably benign Het
Slc30a2 T C 4: 134,349,379 V275A probably damaging Het
Slc6a3 T A 13: 73,544,883 F207L probably benign Het
Slc9a1 A T 4: 133,420,616 Q648H probably damaging Het
Slpi A T 2: 164,356,055 M1K probably null Het
Smc5 A C 19: 23,234,079 S564A possibly damaging Het
Smchd1 A T 17: 71,431,243 F542L probably damaging Het
Sycp1 T A 3: 102,820,593 K901N probably damaging Het
Synpo2l T A 14: 20,666,140 T126S probably benign Het
Upp2 A G 2: 58,777,943 N216S probably benign Het
Wnk1 T C 6: 119,992,447 D349G probably damaging Het
Zfp180 C T 7: 24,104,912 A252V probably benign Het
Zfr2 C T 10: 81,242,819 T295I possibly damaging Het
Zkscan16 C T 4: 58,957,230 T504I possibly damaging Het
Other mutations in Atpaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Atpaf2 APN 11 60409584 critical splice donor site probably null
IGL00504:Atpaf2 APN 11 60405803 missense probably damaging 1.00
IGL01941:Atpaf2 APN 11 60403898 missense probably benign 0.01
IGL02960:Atpaf2 APN 11 60405824 missense probably damaging 0.99
IGL03082:Atpaf2 APN 11 60403844 missense probably damaging 0.99
R1103:Atpaf2 UTSW 11 60403950 missense probably benign 0.06
R4782:Atpaf2 UTSW 11 60404412 missense probably damaging 0.99
R5180:Atpaf2 UTSW 11 60405869 missense possibly damaging 0.69
R5569:Atpaf2 UTSW 11 60416880 missense probably damaging 0.98
R5947:Atpaf2 UTSW 11 60405882 splice site probably benign
R6388:Atpaf2 UTSW 11 60417007 start gained probably benign
R8206:Atpaf2 UTSW 11 60404478 missense probably damaging 0.97
Z1176:Atpaf2 UTSW 11 60416775 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATGGCAACTCAGCTCAGTCC -3'
(R):5'- GTGACAATGGCTCTACTGCATG -3'

Sequencing Primer
(F):5'- GGTACCCTATGCTAGAACAGTCTG -3'
(R):5'- AATGGCTCTACTGCATGGCTCTG -3'
Posted On2020-09-02