Incidental Mutation 'IGL01887:Faap20'
ID179172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faap20
Ensembl Gene ENSMUSG00000073684
Gene NameFanconi anemia core complex associated protein 20
Synonyms2610002J02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01887
Quality Score
Status
Chromosome4
Chromosomal Location155249802-155256687 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 155256200 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 158 (V158A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097747] [ENSMUST00000103178] [ENSMUST00000105627] [ENSMUST00000148406] [ENSMUST00000178473]
Predicted Effect probably benign
Transcript: ENSMUST00000097747
AA Change: V175A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095354
Gene: ENSMUSG00000073684
AA Change: V175A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103178
SMART Domains Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053

DomainStartEndE-ValueType
S_TKc 69 335 5.49e-94 SMART
S_TK_X 336 399 2.58e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105627
AA Change: V172A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101252
Gene: ENSMUSG00000073684
AA Change: V172A

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126803
Predicted Effect probably damaging
Transcript: ENSMUST00000143709
AA Change: V158A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121522
Gene: ENSMUSG00000073684
AA Change: V158A

DomainStartEndE-ValueType
Pfam:FANCA_interact 8 119 2.9e-46 PFAM
Pfam:UBZ_FAAP20 124 158 2.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156404
Predicted Effect probably benign
Transcript: ENSMUST00000178473
AA Change: V185A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137116
Gene: ENSMUSG00000073684
AA Change: V185A

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
Pfam:FANCA_interact 34 145 6.1e-45 PFAM
Pfam:UBZ_FAAP20 150 184 3e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice show seminiferous tubule and ovarian follicle degeneration, small litter sizes, and increased sensitivity to DNA crosslinkers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik A G 15: 84,406,650 L152P probably damaging Het
Appl2 C A 10: 83,621,522 probably benign Het
Fam214a A G 9: 75,017,057 I861V probably benign Het
Filip1 A T 9: 79,819,617 D573E probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Lins1 T C 7: 66,710,381 I168T probably damaging Het
Myo5b A G 18: 74,714,936 R1082G probably benign Het
Olfr1089 A G 2: 86,732,686 C309R probably benign Het
Olfr1110 A G 2: 87,135,541 I260T possibly damaging Het
Pomt2 C T 12: 87,119,589 V439I probably damaging Het
Rars A T 11: 35,825,995 D231E probably benign Het
Slf1 A T 13: 77,100,982 N362K probably benign Het
Smad2 T C 18: 76,299,894 V299A probably damaging Het
Tead2 T C 7: 45,232,310 V84A probably damaging Het
Tnni3k A T 3: 154,875,187 probably null Het
Trp63 C T 16: 25,865,319 R319C probably damaging Het
Vmn1r203 G A 13: 22,524,876 V276I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp318 G T 17: 46,399,168 V606L probably benign Het
Other mutations in Faap20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Faap20 APN 4 155250610 missense probably benign 0.25
R2251:Faap20 UTSW 4 155250553 missense possibly damaging 0.63
R2252:Faap20 UTSW 4 155250553 missense possibly damaging 0.63
R5985:Faap20 UTSW 4 155250340 intron probably benign
R7502:Faap20 UTSW 4 155250336 missense
Posted On2014-05-07