Incidental Mutation 'R5802:Dlgap1'
ID 448809
Institutional Source Beutler Lab
Gene Symbol Dlgap1
Ensembl Gene ENSMUSG00000003279
Gene Name DLG associated protein 1
Synonyms Sapap1, Gkap, GKAP/SAPAP, SAPAP1, D17Bwg0511e, DAP-1 beta, 4933422O14Rik
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 70276068-71128408 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 71073086 bp (GRCm39)
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: 12,021,188 (GRCm39) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Abcc9 C A 6: 142,602,402 (GRCm39) probably null Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Cep70 A G 9: 99,178,458 (GRCm39) N519D probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dis3 A T 14: 99,337,100 (GRCm39) S4T probably damaging Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dnajc1 A G 2: 18,289,550 (GRCm39) Y286H probably benign Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Fbxw11 T A 11: 32,661,790 (GRCm39) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Klf12 A G 14: 100,260,330 (GRCm39) V133A probably benign Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Xylt1 A T 7: 117,255,914 (GRCm39) T829S probably benign Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Dlgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Dlgap1 APN 17 70,823,080 (GRCm39) missense probably benign 0.02
IGL01413:Dlgap1 APN 17 70,823,069 (GRCm39) missense probably benign 0.00
IGL01531:Dlgap1 APN 17 70,823,374 (GRCm39) missense probably damaging 1.00
IGL02226:Dlgap1 APN 17 70,823,029 (GRCm39) missense probably damaging 1.00
BB009:Dlgap1 UTSW 17 70,823,233 (GRCm39) missense probably damaging 1.00
BB019:Dlgap1 UTSW 17 70,823,233 (GRCm39) missense probably damaging 1.00
R0453:Dlgap1 UTSW 17 71,068,341 (GRCm39) missense probably benign 0.03
R0482:Dlgap1 UTSW 17 70,823,185 (GRCm39) missense probably benign 0.11
R0520:Dlgap1 UTSW 17 70,823,989 (GRCm39) nonsense probably null
R1951:Dlgap1 UTSW 17 71,068,306 (GRCm39) missense probably damaging 0.96
R2072:Dlgap1 UTSW 17 70,969,765 (GRCm39) missense probably damaging 0.99
R2076:Dlgap1 UTSW 17 71,093,826 (GRCm39) nonsense probably null
R3438:Dlgap1 UTSW 17 70,823,356 (GRCm39) missense probably damaging 0.97
R3743:Dlgap1 UTSW 17 71,025,221 (GRCm39) critical splice donor site probably null
R3881:Dlgap1 UTSW 17 71,093,810 (GRCm39) missense probably damaging 1.00
R3981:Dlgap1 UTSW 17 70,823,780 (GRCm39) missense probably damaging 1.00
R4043:Dlgap1 UTSW 17 71,068,075 (GRCm39) missense probably damaging 1.00
R4272:Dlgap1 UTSW 17 71,073,038 (GRCm39) missense probably benign
R4273:Dlgap1 UTSW 17 71,073,038 (GRCm39) missense probably benign
R4557:Dlgap1 UTSW 17 70,823,684 (GRCm39) missense probably benign 0.01
R4652:Dlgap1 UTSW 17 71,068,090 (GRCm39) missense probably damaging 1.00
R4771:Dlgap1 UTSW 17 70,900,375 (GRCm39) nonsense probably null
R5000:Dlgap1 UTSW 17 71,073,053 (GRCm39) missense probably damaging 1.00
R5004:Dlgap1 UTSW 17 71,025,222 (GRCm39) critical splice donor site probably null
R5291:Dlgap1 UTSW 17 71,025,205 (GRCm39) missense probably benign 0.03
R5304:Dlgap1 UTSW 17 71,122,202 (GRCm39) missense probably damaging 1.00
R5473:Dlgap1 UTSW 17 70,824,025 (GRCm39) intron probably benign
R5522:Dlgap1 UTSW 17 70,823,993 (GRCm39) critical splice donor site probably null
R5586:Dlgap1 UTSW 17 71,125,156 (GRCm39) missense probably damaging 1.00
R5742:Dlgap1 UTSW 17 71,025,194 (GRCm39) missense probably benign
R5850:Dlgap1 UTSW 17 71,094,087 (GRCm39) missense probably damaging 1.00
R5857:Dlgap1 UTSW 17 71,122,388 (GRCm39) intron probably benign
R5883:Dlgap1 UTSW 17 70,824,008 (GRCm39) intron probably benign
R6045:Dlgap1 UTSW 17 71,125,093 (GRCm39) missense probably damaging 1.00
R6336:Dlgap1 UTSW 17 71,122,284 (GRCm39) missense probably damaging 1.00
R6448:Dlgap1 UTSW 17 70,900,325 (GRCm39) missense possibly damaging 0.59
R6682:Dlgap1 UTSW 17 71,094,118 (GRCm39) missense probably damaging 1.00
R6795:Dlgap1 UTSW 17 71,125,069 (GRCm39) missense possibly damaging 0.48
R7147:Dlgap1 UTSW 17 70,969,753 (GRCm39) missense probably benign 0.00
R7187:Dlgap1 UTSW 17 70,823,093 (GRCm39) missense possibly damaging 0.93
R7382:Dlgap1 UTSW 17 71,094,169 (GRCm39) missense probably damaging 1.00
R7859:Dlgap1 UTSW 17 70,823,683 (GRCm39) missense probably benign
R7932:Dlgap1 UTSW 17 70,823,233 (GRCm39) missense probably damaging 1.00
R8477:Dlgap1 UTSW 17 70,823,967 (GRCm39) missense probably damaging 1.00
R8673:Dlgap1 UTSW 17 71,122,293 (GRCm39) missense probably damaging 1.00
R8866:Dlgap1 UTSW 17 70,823,435 (GRCm39) missense probably damaging 1.00
R8910:Dlgap1 UTSW 17 71,093,815 (GRCm39) missense probably damaging 1.00
R8997:Dlgap1 UTSW 17 70,823,528 (GRCm39) missense possibly damaging 0.63
R9012:Dlgap1 UTSW 17 70,823,182 (GRCm39) missense possibly damaging 0.94
R9035:Dlgap1 UTSW 17 70,823,855 (GRCm39) missense possibly damaging 0.73
R9067:Dlgap1 UTSW 17 71,116,186 (GRCm39) missense probably damaging 1.00
R9361:Dlgap1 UTSW 17 71,068,259 (GRCm39) missense probably damaging 1.00
R9464:Dlgap1 UTSW 17 70,823,964 (GRCm39) missense probably benign 0.11
R9550:Dlgap1 UTSW 17 71,093,902 (GRCm39) missense possibly damaging 0.61
R9564:Dlgap1 UTSW 17 70,964,458 (GRCm39) missense probably benign 0.02
R9565:Dlgap1 UTSW 17 70,964,458 (GRCm39) missense probably benign 0.02
T0975:Dlgap1 UTSW 17 70,823,950 (GRCm39) missense possibly damaging 0.86
Z1176:Dlgap1 UTSW 17 71,122,204 (GRCm39) missense probably damaging 1.00
Z1177:Dlgap1 UTSW 17 70,969,738 (GRCm39) 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