Incidental Mutation 'R8477:Dlgap1'
ID 657335
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 067921-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8477 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 70276068-71128408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 70823967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 317 (Q317H)
Ref Sequence ENSEMBL: ENSMUSP00000118497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060072] [ENSMUST00000133983] [ENSMUST00000135938] [ENSMUST00000146730] [ENSMUST00000155016]
AlphaFold Q9D415
Predicted Effect probably damaging
Transcript: ENSMUST00000060072
AA Change: Q317H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: Q317H

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: ENSMUST00000133983
AA Change: Q317H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: Q317H

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: Q317H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: Q317H

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: ENSMUST00000146730
AA Change: Q317H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: Q317H

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: Q317H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: Q317H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,924,174 (GRCm39) S94L probably benign Het
Ackr1 C T 1: 173,159,755 (GRCm39) G255R probably damaging Het
Aldh1l2 G A 10: 83,337,785 (GRCm39) T560I probably damaging Het
Arhgef25 A T 10: 127,020,266 (GRCm39) F384I probably damaging Het
Bptf T A 11: 106,943,679 (GRCm39) Q2671L probably damaging Het
Ccdc159 A G 9: 21,844,223 (GRCm39) E95G probably damaging Het
Cenpf A T 1: 189,385,385 (GRCm39) H2298Q probably benign Het
Chn2 G T 6: 54,246,467 (GRCm39) probably null Het
Csnk1g1 T C 9: 65,909,555 (GRCm39) L224P probably damaging Het
Cyp2c54 T A 19: 40,058,708 (GRCm39) K241N probably benign Het
Cyp2c55 G T 19: 38,999,485 (GRCm39) V64L probably damaging Het
Dnaja3 A G 16: 4,505,212 (GRCm39) D108G probably null Het
Dpagt1 G T 9: 44,243,390 (GRCm39) probably null Het
Dzip1 T C 14: 119,138,958 (GRCm39) R424G possibly damaging Het
Ero1b A G 13: 12,616,672 (GRCm39) K367R probably benign Het
Evi2 T C 11: 79,406,891 (GRCm39) Y228C probably benign Het
Exosc10 A T 4: 148,649,847 (GRCm39) I426L possibly damaging Het
Gba2 C T 4: 43,569,944 (GRCm39) R423Q probably damaging Het
Gm19965 A C 1: 116,730,854 (GRCm39) probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Gvin2 T C 7: 105,548,133 (GRCm39) K1640E possibly damaging Het
Hc A T 2: 34,879,182 (GRCm39) C1557S probably damaging Het
Hfm1 C T 5: 107,029,684 (GRCm39) S799N probably benign Het
Hibadh A T 6: 52,617,185 (GRCm39) W17R probably benign Het
Hivep1 A T 13: 42,337,696 (GRCm39) T2592S probably benign Het
Ighv8-5 G A 12: 115,031,200 (GRCm39) T113I probably benign Het
Il2rb A T 15: 78,370,006 (GRCm39) V211D probably damaging Het
Itgal A G 7: 126,900,105 (GRCm39) Y121C probably damaging Het
Kirrel1 T C 3: 86,992,138 (GRCm39) T597A possibly damaging Het
Lats1 A G 10: 7,581,279 (GRCm39) E688G probably damaging Het
Lbr C T 1: 181,644,539 (GRCm39) A589T possibly damaging Het
Limch1 G A 5: 67,131,908 (GRCm39) V133I probably benign Het
Mast2 C T 4: 116,164,407 (GRCm39) A1670T probably benign Het
Mtcl1 A T 17: 66,684,942 (GRCm39) L949Q probably benign Het
Nlrp4a T C 7: 26,159,219 (GRCm39) V833A probably benign Het
Or12k5 T C 2: 36,895,060 (GRCm39) T189A probably benign Het
Or8g28 A T 9: 39,169,099 (GRCm39) Y290N probably damaging Het
Osgep C A 14: 51,155,334 (GRCm39) A75S probably damaging Het
Pank1 C A 19: 34,856,055 (GRCm39) R141L probably benign Het
Pcdhb20 T A 18: 37,638,307 (GRCm39) S278T probably benign Het
Pcdhgb8 C A 18: 37,896,365 (GRCm39) F478L probably benign Het
Peg10 C CTCT 6: 4,756,453 (GRCm39) probably benign Het
Polr2a G A 11: 69,626,312 (GRCm39) P1613S probably benign Het
Pramel55 A C 5: 95,949,567 (GRCm39) M105L probably benign Het
Prom2 A C 2: 127,381,124 (GRCm39) S251A probably benign Het
R3hdm2 A G 10: 127,320,029 (GRCm39) H546R probably damaging Het
Reck G T 4: 43,891,011 (GRCm39) V50L probably benign Het
Rerg T C 6: 137,033,184 (GRCm39) T164A probably benign Het
Rho T A 6: 115,912,346 (GRCm39) probably null Het
Ric1 A G 19: 29,575,183 (GRCm39) T959A probably damaging Het
Slc28a3 T A 13: 58,724,609 (GRCm39) N215I possibly damaging Het
Slc2a5 G A 4: 150,210,119 (GRCm39) V35I probably benign Het
Srpk2 A T 5: 23,718,986 (GRCm39) S610T probably benign Het
Tasor2 A G 13: 3,625,079 (GRCm39) F1624L probably benign Het
Tmem147 T A 7: 30,427,656 (GRCm39) M86L probably benign Het
Trhde A G 10: 114,636,622 (GRCm39) V195A probably benign Het
Trio T C 15: 27,774,038 (GRCm39) S112G possibly damaging Het
U2af2 T C 7: 5,078,693 (GRCm39) V424A probably benign Het
Vmn2r27 T C 6: 124,201,200 (GRCm39) I252M probably benign Het
Wasf2 A G 4: 132,912,412 (GRCm39) E88G unknown Het
Zfp37 A G 4: 62,110,240 (GRCm39) C275R probably damaging Het
Zfp532 A T 18: 65,757,137 (GRCm39) I357F 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
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
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'- AGGCTTCCCGGAGTAACAATG -3'
(R):5'- ATGAAGTTGCTAGACGATGTCTC -3'

Sequencing Primer
(F):5'- GACATCAAGTGCTCCACCTGTG -3'
(R):5'- GCTAGACGATGTCTCCTTGAG -3'
Posted On 2021-01-18