Incidental Mutation 'IGL02093:Apobec4'
ID 279485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apobec4
Ensembl Gene ENSMUSG00000055547
Gene Name apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 4
Synonyms 4933431M11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02093
Quality Score
Status
Chromosome 1
Chromosomal Location 152626302-152633295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152632119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 49 (H49R)
Ref Sequence ENSEMBL: ENSMUSP00000069723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068875] [ENSMUST00000111857] [ENSMUST00000111859]
AlphaFold Q497M3
Predicted Effect possibly damaging
Transcript: ENSMUST00000068875
AA Change: H49R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069723
Gene: ENSMUSG00000055547
AA Change: H49R

DomainStartEndE-ValueType
Pfam:APOBEC_N 47 263 4.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111857
SMART Domains Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482

DomainStartEndE-ValueType
RasGEFN 62 194 5.86e-39 SMART
RasGEF 226 500 9.56e-116 SMART
Blast:RasGEF 520 580 7e-8 BLAST
low complexity region 583 594 N/A INTRINSIC
low complexity region 625 635 N/A INTRINSIC
RA 646 733 1.7e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111859
SMART Domains Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482

DomainStartEndE-ValueType
RasGEFN 99 231 5.86e-39 SMART
RasGEF 263 537 9.56e-116 SMART
Blast:RasGEF 557 617 6e-8 BLAST
low complexity region 620 631 N/A INTRINSIC
low complexity region 662 672 N/A INTRINSIC
RA 683 770 1.7e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191482
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,160,396 (GRCm39) Y41F probably benign Het
Amigo1 T C 3: 108,095,214 (GRCm39) Y238H probably benign Het
Ankrd17 A G 5: 90,390,822 (GRCm39) S2283P possibly damaging Het
Arhgap44 T C 11: 64,965,360 (GRCm39) K34R probably damaging Het
Arsg A G 11: 109,416,272 (GRCm39) Y173C possibly damaging Het
Arv1 C A 8: 125,457,617 (GRCm39) L56M probably damaging Het
B3glct A T 5: 149,656,150 (GRCm39) R194S probably benign Het
Ccdc39 T A 3: 33,886,717 (GRCm39) Y297F probably benign Het
Dnah8 A G 17: 30,936,854 (GRCm39) E1552G probably damaging Het
Dnajb9 T C 12: 44,253,987 (GRCm39) H140R probably damaging Het
Dock5 T G 14: 68,076,992 (GRCm39) probably benign Het
Egr2 G A 10: 67,375,854 (GRCm39) G92D probably damaging Het
Evi2a G A 11: 79,418,490 (GRCm39) S40L probably benign Het
Fshr A G 17: 89,309,317 (GRCm39) probably null Het
Glce G A 9: 61,977,821 (GRCm39) T21I probably damaging Het
Gucy2d C A 7: 98,092,755 (GRCm39) S44* probably null Het
Heatr5a T C 12: 51,962,858 (GRCm39) E1014G possibly damaging Het
Hnrnpll A T 17: 80,351,933 (GRCm39) H337Q probably benign Het
Jhy G T 9: 40,856,163 (GRCm39) probably null Het
Kat5 A T 19: 5,653,903 (GRCm39) M427K probably benign Het
Lama5 G A 2: 179,830,380 (GRCm39) P1876S probably damaging Het
Lamc3 C A 2: 31,777,667 (GRCm39) H104Q probably damaging Het
Lcn5 T C 2: 25,548,462 (GRCm39) Y84H probably damaging Het
Mageb18 T A X: 91,163,872 (GRCm39) K123N probably damaging Het
Mfhas1 T A 8: 36,056,498 (GRCm39) N324K probably damaging Het
Nagk T C 6: 83,776,352 (GRCm39) F189S probably damaging Het
Nbas T A 12: 13,610,963 (GRCm39) M2218K probably benign Het
Nuak2 C A 1: 132,259,850 (GRCm39) P543T probably benign Het
Or2ag17 C T 7: 106,390,030 (GRCm39) M59I probably benign Het
Or5bh3 C T X: 49,098,705 (GRCm39) M136I possibly damaging Het
Prl8a9 T C 13: 27,743,436 (GRCm39) Y123C probably damaging Het
Rapgef5 T C 12: 117,682,867 (GRCm39) F220S probably damaging Het
Rexo4 T C 2: 26,852,530 (GRCm39) D135G probably benign Het
Slc39a10 C T 1: 46,874,369 (GRCm39) R311Q probably damaging Het
Slfn10-ps A T 11: 82,923,016 (GRCm39) noncoding transcript Het
Tfrc A G 16: 32,449,012 (GRCm39) E717G probably benign Het
Tg T A 15: 66,564,223 (GRCm39) N1141K possibly damaging Het
Topors T C 4: 40,261,467 (GRCm39) S606G probably damaging Het
Usp11 A G X: 20,585,591 (GRCm39) D827G probably benign Het
Vmn2r1 A T 3: 64,012,130 (GRCm39) M664L probably benign Het
Vmn2r14 A T 5: 109,368,275 (GRCm39) M239K possibly damaging Het
Xiap T C X: 41,188,704 (GRCm39) probably benign Het
Zfp2 G A 11: 50,791,831 (GRCm39) P71S probably benign Het
Zhx1 T A 15: 57,916,264 (GRCm39) T661S probably benign Het
Other mutations in Apobec4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Apobec4 APN 1 152,632,017 (GRCm39) missense probably damaging 1.00
H8562:Apobec4 UTSW 1 152,632,925 (GRCm39) missense probably damaging 0.98
R0928:Apobec4 UTSW 1 152,632,028 (GRCm39) missense probably damaging 1.00
R1848:Apobec4 UTSW 1 152,631,981 (GRCm39) missense probably damaging 1.00
R3773:Apobec4 UTSW 1 152,632,556 (GRCm39) missense probably benign
R4702:Apobec4 UTSW 1 152,632,001 (GRCm39) missense probably benign 0.00
R4703:Apobec4 UTSW 1 152,632,001 (GRCm39) missense probably benign 0.00
R4704:Apobec4 UTSW 1 152,632,001 (GRCm39) missense probably benign 0.00
R4705:Apobec4 UTSW 1 152,632,001 (GRCm39) missense probably benign 0.00
R4720:Apobec4 UTSW 1 152,632,425 (GRCm39) missense possibly damaging 0.84
R5141:Apobec4 UTSW 1 152,631,964 (GRCm39) intron probably benign
R5677:Apobec4 UTSW 1 152,633,033 (GRCm39) missense probably benign 0.00
R9497:Apobec4 UTSW 1 152,632,947 (GRCm39) missense probably benign 0.00
R9574:Apobec4 UTSW 1 152,632,415 (GRCm39) missense probably damaging 1.00
Z1177:Apobec4 UTSW 1 152,632,477 (GRCm39) missense probably damaging 1.00
Z1190:Apobec4 UTSW 1 152,633,081 (GRCm39) missense probably benign 0.20
Posted On 2015-04-16