Incidental Mutation 'R5802:Dlgap1'
ID 448809
Institutional Source Beutler Lab
Gene Symbol Dlgap1
Ensembl Gene ENSMUSG00000003279
Gene Name DLG associated protein 1
Synonyms GKAP/SAPAP, 4933422O14Rik, SAPAP1, Gkap, Sapap1, D17Bwg0511e, DAP-1 beta
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 69969073-70821413 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 70766091 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060072] [ENSMUST00000060072] [ENSMUST00000097288] [ENSMUST00000097288] [ENSMUST00000097288] [ENSMUST00000097288] [ENSMUST00000133717] [ENSMUST00000133717] [ENSMUST00000133717] [ENSMUST00000133717] [ENSMUST00000133983] [ENSMUST00000133983] [ENSMUST00000135938] [ENSMUST00000135938] [ENSMUST00000140728] [ENSMUST00000140728] [ENSMUST00000140728] [ENSMUST00000140728] [ENSMUST00000146730] [ENSMUST00000146730] [ENSMUST00000148486] [ENSMUST00000148486] [ENSMUST00000148486] [ENSMUST00000148486] [ENSMUST00000155016] [ENSMUST00000155016]
AlphaFold Q9D415
Predicted Effect probably null
Transcript: ENSMUST00000060072
SMART Domains Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 515 539 N/A INTRINSIC
low complexity region 542 559 N/A INTRINSIC
low complexity region 628 642 N/A INTRINSIC
Pfam:GKAP 643 982 6.8e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000060072
SMART Domains Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 515 539 N/A INTRINSIC
low complexity region 542 559 N/A INTRINSIC
low complexity region 628 642 N/A INTRINSIC
Pfam:GKAP 643 982 6.8e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097288
SMART Domains Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 208 228 N/A INTRINSIC
low complexity region 244 261 N/A INTRINSIC
low complexity region 330 344 N/A INTRINSIC
Pfam:GKAP 345 625 9.4e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097288
SMART Domains Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 208 228 N/A INTRINSIC
low complexity region 244 261 N/A INTRINSIC
low complexity region 330 344 N/A INTRINSIC
Pfam:GKAP 345 625 9.4e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097288
SMART Domains Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 208 228 N/A INTRINSIC
low complexity region 244 261 N/A INTRINSIC
low complexity region 330 344 N/A INTRINSIC
Pfam:GKAP 345 625 9.4e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097288
SMART Domains Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 208 228 N/A INTRINSIC
low complexity region 244 261 N/A INTRINSIC
low complexity region 330 344 N/A INTRINSIC
Pfam:GKAP 345 625 9.4e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126801
Predicted Effect probably null
Transcript: ENSMUST00000133717
SMART Domains Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 218 238 N/A INTRINSIC
low complexity region 312 326 N/A INTRINSIC
Pfam:GKAP 327 666 1.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133717
SMART Domains Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 218 238 N/A INTRINSIC
low complexity region 312 326 N/A INTRINSIC
Pfam:GKAP 327 666 1.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133717
SMART Domains Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 218 238 N/A INTRINSIC
low complexity region 312 326 N/A INTRINSIC
Pfam:GKAP 327 666 1.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133717
SMART Domains Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 218 238 N/A INTRINSIC
low complexity region 312 326 N/A INTRINSIC
Pfam:GKAP 327 666 1.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133983
SMART Domains Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 515 539 N/A INTRINSIC
low complexity region 542 559 N/A INTRINSIC
low complexity region 628 642 N/A INTRINSIC
Pfam:GKAP 643 982 6.8e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133983
SMART Domains Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 515 539 N/A INTRINSIC
low complexity region 542 559 N/A INTRINSIC
low complexity region 628 642 N/A INTRINSIC
Pfam:GKAP 643 982 6.8e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135938
SMART Domains Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 516 536 N/A INTRINSIC
low complexity region 610 624 N/A INTRINSIC
Pfam:GKAP 625 964 9.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135938
SMART Domains Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 516 536 N/A INTRINSIC
low complexity region 610 624 N/A INTRINSIC
Pfam:GKAP 625 964 9.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000140728
SMART Domains Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 216 236 N/A INTRINSIC
low complexity region 252 269 N/A INTRINSIC
low complexity region 338 352 N/A INTRINSIC
Pfam:GKAP 353 692 1.4e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000140728
SMART Domains Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 216 236 N/A INTRINSIC
low complexity region 252 269 N/A INTRINSIC
low complexity region 338 352 N/A INTRINSIC
Pfam:GKAP 353 692 1.4e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000140728
SMART Domains Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 216 236 N/A INTRINSIC
low complexity region 252 269 N/A INTRINSIC
low complexity region 338 352 N/A INTRINSIC
Pfam:GKAP 353 692 1.4e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000140728
SMART Domains Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 216 236 N/A INTRINSIC
low complexity region 252 269 N/A INTRINSIC
low complexity region 338 352 N/A INTRINSIC
Pfam:GKAP 353 692 1.4e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000146730
SMART Domains Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 516 536 N/A INTRINSIC
low complexity region 552 569 N/A INTRINSIC
low complexity region 638 652 N/A INTRINSIC
Pfam:GKAP 653 933 9.5e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000146730
SMART Domains Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 516 536 N/A INTRINSIC
low complexity region 552 569 N/A INTRINSIC
low complexity region 638 652 N/A INTRINSIC
Pfam:GKAP 653 933 9.5e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000148486
SMART Domains Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 215 239 N/A INTRINSIC
low complexity region 242 259 N/A INTRINSIC
low complexity region 328 342 N/A INTRINSIC
Pfam:GKAP 343 682 1.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000148486
SMART Domains Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 215 239 N/A INTRINSIC
low complexity region 242 259 N/A INTRINSIC
low complexity region 328 342 N/A INTRINSIC
Pfam:GKAP 343 682 1.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000148486
SMART Domains Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 215 239 N/A INTRINSIC
low complexity region 242 259 N/A INTRINSIC
low complexity region 328 342 N/A INTRINSIC
Pfam:GKAP 343 682 1.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000148486
SMART Domains Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 215 239 N/A INTRINSIC
low complexity region 242 259 N/A INTRINSIC
low complexity region 328 342 N/A INTRINSIC
Pfam:GKAP 343 682 1.3e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000155016
SMART Domains Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 516 536 N/A INTRINSIC
low complexity region 552 569 N/A INTRINSIC
low complexity region 638 652 N/A INTRINSIC
Pfam:GKAP 660 992 2e-153 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000155016
SMART Domains Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279

DomainStartEndE-ValueType
low complexity region 180 210 N/A INTRINSIC
low complexity region 516 536 N/A INTRINSIC
low complexity region 552 569 N/A INTRINSIC
low complexity region 638 652 N/A INTRINSIC
Pfam:GKAP 660 992 2e-153 PFAM
Meta Mutation Damage Score 0.9486 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,950,964 (GRCm38) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,703,636 (GRCm38) D261V probably damaging Het
Abca4 A T 3: 122,054,232 (GRCm38) L67F probably damaging Het
Abcc9 C A 6: 142,656,676 (GRCm38) probably null Het
Atp2a3 T C 11: 72,972,882 (GRCm38) V175A probably damaging Het
B3galt4 T A 17: 33,950,757 (GRCm38) D169V probably damaging Het
Bsn C T 9: 108,113,009 (GRCm38) R1848Q possibly damaging Het
Camkk2 T C 5: 122,734,244 (GRCm38) E90G probably damaging Het
Cdon T A 9: 35,454,420 (GRCm38) I155N probably damaging Het
Cep70 A G 9: 99,296,405 (GRCm38) N519D probably damaging Het
Clgn T C 8: 83,425,614 (GRCm38) S582P probably damaging Het
Cnga3 T C 1: 37,260,925 (GRCm38) F280S probably damaging Het
Dennd4c C T 4: 86,811,453 (GRCm38) T764M probably benign Het
Dis3 A T 14: 99,099,664 (GRCm38) S4T probably damaging Het
Dnah17 C T 11: 118,036,446 (GRCm38) V3839I possibly damaging Het
Dnajc1 A G 2: 18,284,739 (GRCm38) Y286H probably benign Het
Dynap T A 18: 70,241,002 (GRCm38) D151V unknown Het
Ednrb A G 14: 103,821,714 (GRCm38) F292S probably damaging Het
Eef1a1 A G 9: 78,479,036 (GRCm38) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm38) F324S probably benign Het
Fbxw11 T A 11: 32,711,790 (GRCm38) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm38) V209L probably benign Homo
Gm5592 C T 7: 41,219,105 (GRCm38) probably benign Het
Gm7030 A G 17: 36,111,287 (GRCm38) probably benign Het
Gpr137 C T 19: 6,942,005 (GRCm38) W51* probably null Het
Hbb-bs T C 7: 103,826,672 (GRCm38) Y146C probably damaging Het
Herc1 G T 9: 66,462,878 (GRCm38) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,665,056 (GRCm38) N309K unknown Het
Hydin A T 8: 110,452,060 (GRCm38) I1096F possibly damaging Het
Klf12 A G 14: 100,022,894 (GRCm38) V133A probably benign Het
Lats2 A T 14: 57,694,418 (GRCm38) Y848N probably damaging Het
Loxl3 A G 6: 83,049,289 (GRCm38) T453A possibly damaging Het
Ltn1 T G 16: 87,415,681 (GRCm38) H664P probably benign Het
Lypd6 C T 2: 50,173,601 (GRCm38) T40I probably benign Het
Nbeal1 A T 1: 60,272,221 (GRCm38) T1817S probably benign Het
Nub1 A C 5: 24,702,441 (GRCm38) Y350S possibly damaging Het
Pbp2 A G 6: 135,309,876 (GRCm38) Y158H possibly damaging Het
Ptpru C T 4: 131,788,377 (GRCm38) E827K possibly damaging Het
Rap1a A G 3: 105,745,936 (GRCm38) Y32H probably damaging Het
Raph1 T C 1: 60,488,673 (GRCm38) N1143S possibly damaging Het
Rbl1 T C 2: 157,161,433 (GRCm38) T859A probably benign Het
Rom1 A G 19: 8,928,824 (GRCm38) L117P probably damaging Het
Senp6 T C 9: 80,118,644 (GRCm38) probably benign Het
Sirpb1c T C 3: 15,832,076 (GRCm38) M379V probably benign Het
Slc6a4 C T 11: 77,019,236 (GRCm38) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm38) R141L probably damaging Het
Stk10 C T 11: 32,596,748 (GRCm38) P335L probably benign Het
Tcstv2c G A 13: 120,154,913 (GRCm38) S96N possibly damaging Het
Tecpr1 A T 5: 144,206,546 (GRCm38) N670K probably benign Het
Tgds T C 14: 118,132,707 (GRCm38) E8G probably benign Het
Tmem129 A G 5: 33,657,716 (GRCm38) S38P probably damaging Het
Trappc9 T C 15: 72,685,339 (GRCm38) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm38) probably benign Het
Wapl A G 14: 34,692,320 (GRCm38) T380A probably damaging Het
Xylt1 A T 7: 117,656,691 (GRCm38) T829S probably benign Het
Zc3h6 C T 2: 129,015,559 (GRCm38) P666L possibly damaging Het
Zfp1010 T C 2: 177,265,256 (GRCm38) T150A possibly damaging Het
Zfp703 C T 8: 26,979,205 (GRCm38) P299L probably damaging Het
Other mutations in Dlgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Dlgap1 APN 17 70,516,085 (GRCm38) missense probably benign 0.02
IGL01413:Dlgap1 APN 17 70,516,074 (GRCm38) missense probably benign 0.00
IGL01531:Dlgap1 APN 17 70,516,379 (GRCm38) missense probably damaging 1.00
IGL02226:Dlgap1 APN 17 70,516,034 (GRCm38) missense probably damaging 1.00
BB009:Dlgap1 UTSW 17 70,516,238 (GRCm38) missense probably damaging 1.00
BB019:Dlgap1 UTSW 17 70,516,238 (GRCm38) missense probably damaging 1.00
R0453:Dlgap1 UTSW 17 70,761,346 (GRCm38) missense probably benign 0.03
R0482:Dlgap1 UTSW 17 70,516,190 (GRCm38) missense probably benign 0.11
R0520:Dlgap1 UTSW 17 70,516,994 (GRCm38) nonsense probably null
R1951:Dlgap1 UTSW 17 70,761,311 (GRCm38) missense probably damaging 0.96
R2072:Dlgap1 UTSW 17 70,662,770 (GRCm38) missense probably damaging 0.99
R2076:Dlgap1 UTSW 17 70,786,831 (GRCm38) nonsense probably null
R3438:Dlgap1 UTSW 17 70,516,361 (GRCm38) missense probably damaging 0.97
R3743:Dlgap1 UTSW 17 70,718,226 (GRCm38) critical splice donor site probably null
R3881:Dlgap1 UTSW 17 70,786,815 (GRCm38) missense probably damaging 1.00
R3981:Dlgap1 UTSW 17 70,516,785 (GRCm38) missense probably damaging 1.00
R4043:Dlgap1 UTSW 17 70,761,080 (GRCm38) missense probably damaging 1.00
R4272:Dlgap1 UTSW 17 70,766,043 (GRCm38) missense probably benign
R4273:Dlgap1 UTSW 17 70,766,043 (GRCm38) missense probably benign
R4557:Dlgap1 UTSW 17 70,516,689 (GRCm38) missense probably benign 0.01
R4652:Dlgap1 UTSW 17 70,761,095 (GRCm38) missense probably damaging 1.00
R4771:Dlgap1 UTSW 17 70,593,380 (GRCm38) nonsense probably null
R5000:Dlgap1 UTSW 17 70,766,058 (GRCm38) missense probably damaging 1.00
R5004:Dlgap1 UTSW 17 70,718,227 (GRCm38) critical splice donor site probably null
R5291:Dlgap1 UTSW 17 70,718,210 (GRCm38) missense probably benign 0.03
R5304:Dlgap1 UTSW 17 70,815,207 (GRCm38) missense probably damaging 1.00
R5473:Dlgap1 UTSW 17 70,517,030 (GRCm38) intron probably benign
R5522:Dlgap1 UTSW 17 70,516,998 (GRCm38) critical splice donor site probably null
R5586:Dlgap1 UTSW 17 70,818,161 (GRCm38) missense probably damaging 1.00
R5742:Dlgap1 UTSW 17 70,718,199 (GRCm38) missense probably benign
R5850:Dlgap1 UTSW 17 70,787,092 (GRCm38) missense probably damaging 1.00
R5857:Dlgap1 UTSW 17 70,815,393 (GRCm38) intron probably benign
R5883:Dlgap1 UTSW 17 70,517,013 (GRCm38) intron probably benign
R6045:Dlgap1 UTSW 17 70,818,098 (GRCm38) missense probably damaging 1.00
R6336:Dlgap1 UTSW 17 70,815,289 (GRCm38) missense probably damaging 1.00
R6448:Dlgap1 UTSW 17 70,593,330 (GRCm38) missense possibly damaging 0.59
R6682:Dlgap1 UTSW 17 70,787,123 (GRCm38) missense probably damaging 1.00
R6795:Dlgap1 UTSW 17 70,818,074 (GRCm38) missense possibly damaging 0.48
R7147:Dlgap1 UTSW 17 70,662,758 (GRCm38) missense probably benign 0.00
R7187:Dlgap1 UTSW 17 70,516,098 (GRCm38) missense possibly damaging 0.93
R7382:Dlgap1 UTSW 17 70,787,174 (GRCm38) missense probably damaging 1.00
R7859:Dlgap1 UTSW 17 70,516,688 (GRCm38) missense probably benign
R7932:Dlgap1 UTSW 17 70,516,238 (GRCm38) missense probably damaging 1.00
R8477:Dlgap1 UTSW 17 70,516,972 (GRCm38) missense probably damaging 1.00
R8673:Dlgap1 UTSW 17 70,815,298 (GRCm38) missense probably damaging 1.00
R8866:Dlgap1 UTSW 17 70,516,440 (GRCm38) missense probably damaging 1.00
R8910:Dlgap1 UTSW 17 70,786,820 (GRCm38) missense probably damaging 1.00
R8997:Dlgap1 UTSW 17 70,516,533 (GRCm38) missense possibly damaging 0.63
R9012:Dlgap1 UTSW 17 70,516,187 (GRCm38) missense possibly damaging 0.94
R9035:Dlgap1 UTSW 17 70,516,860 (GRCm38) missense possibly damaging 0.73
R9067:Dlgap1 UTSW 17 70,809,191 (GRCm38) missense probably damaging 1.00
R9361:Dlgap1 UTSW 17 70,761,264 (GRCm38) missense probably damaging 1.00
R9464:Dlgap1 UTSW 17 70,516,969 (GRCm38) missense probably benign 0.11
R9550:Dlgap1 UTSW 17 70,786,907 (GRCm38) missense possibly damaging 0.61
R9564:Dlgap1 UTSW 17 70,657,463 (GRCm38) missense probably benign 0.02
R9565:Dlgap1 UTSW 17 70,657,463 (GRCm38) missense probably benign 0.02
T0975:Dlgap1 UTSW 17 70,516,955 (GRCm38) missense possibly damaging 0.86
Z1176:Dlgap1 UTSW 17 70,815,209 (GRCm38) missense probably damaging 1.00
Z1177:Dlgap1 UTSW 17 70,662,743 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGAACAGTCCCGTCATATCC -3'
(R):5'- TCCCAAGCATAGGTGGCAAG -3'

Sequencing Primer
(F):5'- TATCCCAGAGGTGAAAGCCTGTC -3'
(R):5'- AGCTTGCAGGCTTGTCAC -3'
Posted On 2016-12-15