Incidental Mutation 'R0012:Adap1'
ID8127
Institutional Source Beutler Lab
Gene Symbol Adap1
Ensembl Gene ENSMUSG00000056413
Gene NameArfGAP with dual PH domains 1
Synonyms4930431P11Rik, Centa1, centaurin alpha 1
MMRRC Submission 038307-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0012 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location139271876-139325622 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 139307734 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110865]
Predicted Effect probably benign
Transcript: ENSMUST00000110865
SMART Domains Protein: ENSMUSP00000106489
Gene: ENSMUSG00000056413

DomainStartEndE-ValueType
ArfGap 7 126 2.45e-60 SMART
PH 130 232 1.02e-5 SMART
PH 253 358 9.48e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196271
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 78.7%
  • 3x: 69.0%
  • 10x: 44.7%
  • 20x: 26.0%
Validation Efficiency 91% (95/104)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bnip3 A G 7: 138,898,672 probably benign Het
Brwd1 A C 16: 96,059,652 S311R probably damaging Het
C2cd3 G A 7: 100,418,522 V871M possibly damaging Het
Chd2 G T 7: 73,455,519 T192K probably damaging Het
Chrna10 T C 7: 102,115,057 N40S possibly damaging Het
Copb1 T A 7: 114,237,408 K366N probably damaging Het
Dpysl4 T G 7: 139,097,883 I412S probably benign Het
E130309D02Rik A G 5: 143,314,182 L137P probably damaging Het
Fat2 A G 11: 55,262,871 V3505A probably benign Het
Fbxo24 A G 5: 137,621,994 F101S probably damaging Het
Gcnt3 T C 9: 70,034,085 I400M probably benign Het
Gm2962 T A 1: 170,925,339 probably benign Het
Gsap T A 5: 21,226,229 probably benign Het
Hipk1 A G 3: 103,763,680 M467T probably damaging Het
Hmgb4 T A 4: 128,260,725 I17F probably damaging Het
Kif17 T G 4: 138,293,748 S606A probably damaging Het
Lypd4 A G 7: 24,865,332 L127P probably damaging Het
Lyst A G 13: 13,687,694 H2605R probably benign Het
Map3k4 A G 17: 12,238,189 S1289P probably damaging Het
Mob1b G A 5: 88,756,084 probably benign Het
Mthfd2l A T 5: 90,961,383 H224L probably damaging Het
Nectin2 T C 7: 19,730,744 probably benign Het
Rae1 T A 2: 173,002,673 F4I unknown Het
Ralgapa2 A G 2: 146,412,752 Y821H probably benign Het
Sharpin G T 15: 76,348,343 P156T possibly damaging Het
Slc38a4 C T 15: 96,999,629 R435H probably damaging Het
Snrnp200 T C 2: 127,228,549 V1061A probably benign Het
Suclg1 A G 6: 73,270,997 T234A possibly damaging Het
Tet2 T C 3: 133,476,558 Y1215C probably damaging Het
Tjp1 A G 7: 65,329,775 probably benign Het
Tnpo3 T C 6: 29,589,177 E58G probably damaging Het
Trp53bp2 T A 1: 182,444,718 M464K probably damaging Het
Trpm1 A G 7: 64,268,591 S560G possibly damaging Het
Unc80 T C 1: 66,507,391 S541P probably damaging Het
Ushbp1 T C 8: 71,395,040 probably benign Het
Zfp644 T G 5: 106,635,043 E1155A probably benign Het
Other mutations in Adap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02601:Adap1 APN 5 139307786 missense probably damaging 1.00
R0012:Adap1 UTSW 5 139307734 splice site probably benign
R0137:Adap1 UTSW 5 139293221 splice site probably benign
R1959:Adap1 UTSW 5 139273341 missense probably benign 0.01
R2913:Adap1 UTSW 5 139274821 splice site probably null
R2930:Adap1 UTSW 5 139307866 missense probably benign 0.00
R6154:Adap1 UTSW 5 139307776 missense possibly damaging 0.68
R6291:Adap1 UTSW 5 139273491 missense probably benign 0.01
R6735:Adap1 UTSW 5 139293145 missense probably damaging 1.00
R7537:Adap1 UTSW 5 139293173 missense possibly damaging 0.81
R7559:Adap1 UTSW 5 139279540 missense probably damaging 1.00
Posted On2012-11-20