Incidental Mutation 'R9361:Dlgap1'
ID 708730
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9361 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 70276068-71128408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71068259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 610 (D610V)
Ref Sequence ENSEMBL: ENSMUSP00000122896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060072] [ENSMUST00000097288] [ENSMUST00000133717] [ENSMUST00000133983] [ENSMUST00000135938] [ENSMUST00000140728] [ENSMUST00000146730] [ENSMUST00000155016] [ENSMUST00000148486]
AlphaFold Q9D415
Predicted Effect probably damaging
Transcript: ENSMUST00000060072
AA Change: D600V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: D600V

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 damaging
Transcript: ENSMUST00000097288
AA Change: D302V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094890
Gene: ENSMUSG00000003279
AA Change: D302V

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 damaging
Transcript: ENSMUST00000133717
AA Change: D284V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122370
Gene: ENSMUSG00000003279
AA Change: D284V

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 damaging
Transcript: ENSMUST00000133983
AA Change: D600V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: D600V

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 damaging
Transcript: ENSMUST00000135938
AA Change: D582V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: D582V

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 damaging
Transcript: ENSMUST00000140728
AA Change: D310V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117358
Gene: ENSMUSG00000003279
AA Change: D310V

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 damaging
Transcript: ENSMUST00000146730
AA Change: D610V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: D610V

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 damaging
Transcript: ENSMUST00000155016
AA Change: D610V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: D610V

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 damaging
Transcript: ENSMUST00000148486
AA Change: D300V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122337
Gene: ENSMUSG00000003279
AA Change: D300V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik C T 8: 121,361,060 (GRCm39) A12T unknown Het
Aasdh T A 5: 77,030,225 (GRCm39) T792S probably benign Het
Actl11 T A 9: 107,805,824 (GRCm39) L49Q probably damaging Het
Adcy3 G T 12: 4,259,366 (GRCm39) R881L possibly damaging Het
Alox15 T G 11: 70,241,679 (GRCm39) K67N probably damaging Het
Amotl1 C T 9: 14,504,677 (GRCm39) R177Q probably benign Het
Ankrd34c T A 9: 89,612,183 (GRCm39) I53F probably damaging Het
Atp8b5 T A 4: 43,369,658 (GRCm39) F932Y possibly damaging Het
Bckdk A G 7: 127,506,515 (GRCm39) M281V probably benign Het
Ccdc33 C T 9: 58,024,908 (GRCm39) C106Y possibly damaging Het
Celsr3 T A 9: 108,726,521 (GRCm39) I3250N probably damaging Het
Ces1g A T 8: 94,061,646 (GRCm39) probably null Het
Ces2b G A 8: 105,564,039 (GRCm39) probably null Het
Clspn A T 4: 126,479,654 (GRCm39) D1033V probably damaging Het
Cntln G T 4: 84,968,151 (GRCm39) R790I probably benign Het
Cspg4 T C 9: 56,803,877 (GRCm39) V1656A probably damaging Het
Dennd2b A G 7: 109,126,991 (GRCm39) S907P probably damaging Het
Efcab3 C T 11: 104,896,524 (GRCm39) T4291I probably benign Het
Eya4 C A 10: 22,985,766 (GRCm39) G579W probably damaging Het
Fam83b T C 9: 76,400,076 (GRCm39) I342M probably benign Het
Fhdc1 A C 3: 84,356,140 (GRCm39) C435G probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Fras1 T G 5: 96,924,557 (GRCm39) L3666R probably damaging Het
Gm21560 T A 14: 6,218,262 (GRCm38) H72L possibly damaging Het
Gtsf2 C T 15: 103,348,066 (GRCm39) W148* probably null Het
Gucy2c T C 6: 136,714,429 (GRCm39) K466E possibly damaging Het
Higd2a T A 13: 54,738,120 (GRCm39) D14E probably benign Het
Hlcs C T 16: 93,939,799 (GRCm39) V513M probably benign Het
Ido1 T C 8: 25,079,601 (GRCm39) T148A probably benign Het
Ighv1-5 T A 12: 114,476,985 (GRCm39) T106S probably damaging Het
Igkv4-92 T C 6: 68,732,090 (GRCm39) T95A possibly damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Larp4b T G 13: 9,199,937 (GRCm39) F278V probably damaging Het
Lrch4 G A 5: 137,635,076 (GRCm39) R225H probably damaging Het
Mapkbp1 T C 2: 119,845,252 (GRCm39) Y378H probably benign Het
Nme9 T A 9: 99,341,775 (GRCm39) C42S probably damaging Het
Or2y10 A G 11: 49,455,303 (GRCm39) K185R probably damaging Het
Pdlim2 T G 14: 70,402,190 (GRCm39) T309P probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prodh C T 16: 17,898,834 (GRCm39) C207Y probably benign Het
Prom1 A T 5: 44,213,229 (GRCm39) L168Q probably damaging Het
Resf1 T G 6: 149,228,132 (GRCm39) S393A possibly damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Shkbp1 T C 7: 27,051,492 (GRCm39) Q189R probably benign Het
Skint4 T C 4: 112,001,021 (GRCm39) L372S probably damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Specc1 A T 11: 62,037,144 (GRCm39) E699D probably benign Het
Speer1m C T 5: 11,970,646 (GRCm39) T105M Het
Syt6 C A 3: 103,482,679 (GRCm39) probably benign Het
Tent5b G T 4: 133,213,461 (GRCm39) A111S probably damaging Het
Tg A G 15: 66,557,246 (GRCm39) E969G possibly damaging Het
Tie1 A C 4: 118,336,829 (GRCm39) H632Q probably benign Het
Trappc12 A G 12: 28,796,417 (GRCm39) W372R probably damaging Het
Trav7d-4 T C 14: 53,007,606 (GRCm39) V33A probably damaging Het
Ugdh A T 5: 65,575,886 (GRCm39) N324K probably damaging Het
Vmn2r79 G T 7: 86,652,822 (GRCm39) probably null Het
Washc2 T C 6: 116,239,433 (GRCm39) *1335Q probably null Het
Yme1l1 C T 2: 23,081,063 (GRCm39) T445I possibly damaging Het
Zdhhc11 T C 13: 74,122,737 (GRCm39) C158R probably damaging Het
Zfp128 T C 7: 12,624,364 (GRCm39) L244P probably damaging Het
Zfp445 T A 9: 122,690,887 (GRCm39) I103F probably damaging Het
Zfp980 A T 4: 145,427,999 (GRCm39) T243S probably benign 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
R5802:Dlgap1 UTSW 17 71,073,086 (GRCm39) critical splice donor site probably null
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
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'- TGCAGAAATCACAGTCTTTGC -3'
(R):5'- CTGTATCCCAATAGACAGACATCG -3'

Sequencing Primer
(F):5'- GCAGAAATCACAGTCTTTGCTTTCAC -3'
(R):5'- CCCAATAGACAGACATCGGTTTTTC -3'
Posted On 2022-04-18