Incidental Mutation 'IGL02951:Faap24'
ID365992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faap24
Ensembl Gene ENSMUSG00000030493
Gene NameFanconi anemia core complex associated protein 24
SynonymsC230052I12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock #IGL02951
Quality Score
Status
Chromosome7
Chromosomal Location35392152-35396836 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 35392951 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 180 (K180N)
Ref Sequence ENSEMBL: ENSMUSP00000115766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032704] [ENSMUST00000032705] [ENSMUST00000079414] [ENSMUST00000085556] [ENSMUST00000141704] [ENSMUST00000154597] [ENSMUST00000206854]
Predicted Effect probably damaging
Transcript: ENSMUST00000032704
AA Change: K180N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032704
Gene: ENSMUSG00000030493
AA Change: K180N

DomainStartEndE-ValueType
Pfam:HHH_2 162 219 1.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032705
SMART Domains Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494

DomainStartEndE-ValueType
Hr1 38 101 2.42e-12 SMART
BRO1 111 513 1.27e-167 SMART
PDZ 524 594 1.73e-9 SMART
low complexity region 623 637 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079414
SMART Domains Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072

DomainStartEndE-ValueType
low complexity region 27 62 N/A INTRINSIC
low complexity region 181 190 N/A INTRINSIC
coiled coil region 252 291 N/A INTRINSIC
coiled coil region 372 598 N/A INTRINSIC
coiled coil region 670 732 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085556
SMART Domains Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494

DomainStartEndE-ValueType
Hr1 38 101 2.42e-12 SMART
BRO1 111 513 1.27e-167 SMART
PDZ 524 594 1.73e-9 SMART
low complexity region 623 637 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141001
Predicted Effect probably benign
Transcript: ENSMUST00000141704
SMART Domains Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072

DomainStartEndE-ValueType
low complexity region 27 62 N/A INTRINSIC
low complexity region 181 190 N/A INTRINSIC
coiled coil region 252 291 N/A INTRINSIC
coiled coil region 372 598 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154597
AA Change: K180N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115766
Gene: ENSMUSG00000030493
AA Change: K180N

DomainStartEndE-ValueType
Pfam:HHH_2 162 219 2.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206854
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,454,702 probably benign Het
Acot10 G A 15: 20,665,782 T291I probably benign Het
Atp13a3 A G 16: 30,338,621 probably null Het
Atp2a1 C T 7: 126,450,227 V548M possibly damaging Het
Bsn G A 9: 108,115,613 S980L probably damaging Het
Ccdc158 A G 5: 92,650,006 M425T probably damaging Het
Cdh23 A G 10: 60,311,364 L2733S probably damaging Het
Chd3 C T 11: 69,361,048 probably null Het
Dock2 T C 11: 34,310,448 probably benign Het
Elfn2 T C 15: 78,671,882 K822E probably damaging Het
Eps15l1 G A 8: 72,358,396 S764L probably benign Het
Etl4 C A 2: 20,801,537 probably benign Het
Fam205a1 C T 4: 42,850,696 E487K probably benign Het
Fhod1 G A 8: 105,331,230 R888W probably damaging Het
Fus T C 7: 127,981,837 probably benign Het
Gm3453 T C 14: 5,976,168 E201G possibly damaging Het
Gm5346 T G 8: 43,627,088 H33P possibly damaging Het
Gnpat G T 8: 124,870,905 D69Y probably benign Het
Gpaa1 T A 15: 76,332,819 probably benign Het
Gsta1 A T 9: 78,242,537 K211* probably null Het
Lct G T 1: 128,300,211 Q1182K probably damaging Het
Mroh1 T C 15: 76,427,636 L523P probably damaging Het
Mrpl46 A G 7: 78,775,452 probably benign Het
Mst1r G T 9: 107,908,204 V354F possibly damaging Het
Myo15b A G 11: 115,881,301 D299G probably damaging Het
Myo6 G A 9: 80,264,234 V506I possibly damaging Het
Nadk A C 4: 155,587,476 K271Q probably benign Het
Nbas A G 12: 13,362,541 R954G probably benign Het
Nbr1 T A 11: 101,571,979 probably null Het
Nup88 T C 11: 70,944,872 D587G possibly damaging Het
Oas1a A T 5: 120,905,664 F135Y probably damaging Het
Obscn A G 11: 58,994,513 probably benign Het
Odf3l2 T C 10: 79,639,977 N251S probably benign Het
Olfr1290 T G 2: 111,490,120 I13L probably benign Het
Parp14 G A 16: 35,858,533 T355I probably benign Het
Pdgfd G T 9: 6,288,494 L43F probably damaging Het
Pou5f2 T C 13: 78,025,118 S60P probably benign Het
Prp2 A G 6: 132,599,825 N25S unknown Het
Ptprq A T 10: 107,667,460 F779Y probably benign Het
Rims2 C T 15: 39,534,938 R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 S425* probably null Het
Rps21 T A 2: 180,258,047 I59N probably damaging Het
Scn5a A T 9: 119,495,685 F1359Y probably damaging Het
Slc35b2 A G 17: 45,564,768 E67G probably damaging Het
Slc37a2 A G 9: 37,255,315 F15L probably benign Het
Snapc4 A C 2: 26,370,835 N465K probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taco1 A G 11: 106,069,527 N98S probably benign Het
Tcea3 T C 4: 136,257,988 probably null Het
Thada T C 17: 84,444,028 S507G probably benign Het
Tmem132b T A 5: 125,787,547 C906S probably damaging Het
Trpm2 A T 10: 77,929,278 I963N possibly damaging Het
Usp10 A G 8: 119,947,086 T397A probably benign Het
Usp3 G A 9: 66,542,550 R160* probably null Het
Utp15 T C 13: 98,257,952 Y144C probably damaging Het
Xpc G A 6: 91,506,849 R172W probably damaging Het
Other mutations in Faap24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02265:Faap24 APN 7 35396264 missense probably benign 0.01
IGL03351:Faap24 APN 7 35395309 nonsense probably null
R0030:Faap24 UTSW 7 35392860 missense probably damaging 0.97
R0606:Faap24 UTSW 7 35394963 unclassified probably benign
R1378:Faap24 UTSW 7 35392901 missense probably benign 0.06
R3749:Faap24 UTSW 7 35393012 missense possibly damaging 0.94
R4661:Faap24 UTSW 7 35395084 missense probably benign 0.00
R6279:Faap24 UTSW 7 35396284 missense possibly damaging 0.90
R7025:Faap24 UTSW 7 35392871 missense possibly damaging 0.84
R7074:Faap24 UTSW 7 35395102 missense possibly damaging 0.92
R7171:Faap24 UTSW 7 35392854 nonsense probably null
R7249:Faap24 UTSW 7 35395060 missense probably benign
R7566:Faap24 UTSW 7 35393040 missense probably benign 0.01
Posted On2015-12-18