Incidental Mutation 'IGL02226:Dlgap1'
ID285352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlgap1
Ensembl Gene ENSMUSG00000003279
Gene NameDLG associated protein 1
SynonymsGKAP/SAPAP, 4933422O14Rik, SAPAP1, Gkap, Sapap1, D17Bwg0511e, DAP-1 beta
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02226
Quality Score
Status
Chromosome17
Chromosomal Location69969073-70821413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70516034 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 5 (S5P)
Ref Sequence ENSEMBL: ENSMUSP00000122896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060072] [ENSMUST00000133983] [ENSMUST00000135938] [ENSMUST00000146730] [ENSMUST00000155016]
Predicted Effect probably damaging
Transcript: ENSMUST00000060072
AA Change: S5P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: S5P

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 noncoding transcript
Transcript: ENSMUST00000125691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130971
Predicted Effect probably damaging
Transcript: ENSMUST00000133983
AA Change: S5P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: S5P

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: S5P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: S5P

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: S5P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: S5P

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 noncoding transcript
Transcript: ENSMUST00000150798
Predicted Effect probably damaging
Transcript: ENSMUST00000155016
AA Change: S5P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: S5P

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik A C X: 89,931,912 D226E probably damaging Het
Akap6 T C 12: 53,010,467 probably benign Het
Ankrd11 G A 8: 122,892,245 R1602W probably damaging Het
Arhgap23 G T 11: 97,451,600 R236L probably benign Het
Aurkaip1 T C 4: 155,832,571 V92A probably benign Het
Cdh20 A T 1: 104,954,091 probably benign Het
Ctnnd2 A G 15: 30,847,336 N691S probably benign Het
Ddx24 A C 12: 103,424,458 D2E possibly damaging Het
Dennd5b A G 6: 149,033,301 S691P probably benign Het
Dhrs3 C T 4: 144,923,949 R248W possibly damaging Het
Ep300 A T 15: 81,613,412 M510L unknown Het
Fbxo25 T C 8: 13,923,922 probably benign Het
Gm3252 A T 14: 4,743,741 K193M possibly damaging Het
Gtf3c1 T C 7: 125,667,990 probably null Het
Helz2 T C 2: 181,231,690 D2337G probably damaging Het
Idh1 A T 1: 65,161,922 M290K probably damaging Het
Layn T C 9: 51,074,017 S80G probably damaging Het
Ltbp4 C T 7: 27,306,934 E1440K probably damaging Het
Mri1 T C 8: 84,256,295 T166A probably damaging Het
Myod1 C T 7: 46,378,306 T290I probably benign Het
Nfat5 T A 8: 107,351,522 L431* probably null Het
Nle1 A T 11: 82,904,307 Y299* probably null Het
Nlrp4c T A 7: 6,066,829 F576L possibly damaging Het
Nudt21 G T 8: 94,019,701 S123* probably null Het
Plekhg1 A C 10: 3,945,916 D436A probably damaging Het
Plxna2 T C 1: 194,644,424 V222A probably damaging Het
Rbm14 A G 19: 4,801,717 probably benign Het
Scfd1 T A 12: 51,389,381 probably benign Het
Slc34a2 A G 5: 53,067,731 T405A probably benign Het
Slc39a9 T A 12: 80,644,921 M14K probably damaging Het
Slc39a9 G A 12: 80,644,922 M14I probably damaging Het
Spast G A 17: 74,372,339 probably benign Het
Spen T C 4: 141,478,146 R1057G unknown Het
Sptbn4 T G 7: 27,365,707 T2056P probably damaging Het
Ssrp1 T C 2: 85,040,361 L148P probably damaging Het
Tdrd6 T A 17: 43,627,202 H985L probably damaging Het
Tmem44 A G 16: 30,539,381 probably benign Het
Vmn2r116 T A 17: 23,384,834 L11Q probably null Het
Wdr78 A T 4: 103,090,398 I227K probably benign Het
Other mutations in Dlgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Dlgap1 APN 17 70516085 missense probably benign 0.02
IGL01413:Dlgap1 APN 17 70516074 missense probably benign 0.00
IGL01531:Dlgap1 APN 17 70516379 missense probably damaging 1.00
BB009:Dlgap1 UTSW 17 70516238 missense probably damaging 1.00
BB019:Dlgap1 UTSW 17 70516238 missense probably damaging 1.00
R0453:Dlgap1 UTSW 17 70761346 missense probably benign 0.03
R0482:Dlgap1 UTSW 17 70516190 missense probably benign 0.11
R0520:Dlgap1 UTSW 17 70516994 nonsense probably null
R1951:Dlgap1 UTSW 17 70761311 missense probably damaging 0.96
R2072:Dlgap1 UTSW 17 70662770 missense probably damaging 0.99
R2076:Dlgap1 UTSW 17 70786831 nonsense probably null
R3438:Dlgap1 UTSW 17 70516361 missense probably damaging 0.97
R3743:Dlgap1 UTSW 17 70718226 critical splice donor site probably null
R3881:Dlgap1 UTSW 17 70786815 missense probably damaging 1.00
R3981:Dlgap1 UTSW 17 70516785 missense probably damaging 1.00
R4043:Dlgap1 UTSW 17 70761080 missense probably damaging 1.00
R4272:Dlgap1 UTSW 17 70766043 missense probably benign
R4273:Dlgap1 UTSW 17 70766043 missense probably benign
R4557:Dlgap1 UTSW 17 70516689 missense probably benign 0.01
R4652:Dlgap1 UTSW 17 70761095 missense probably damaging 1.00
R4771:Dlgap1 UTSW 17 70593380 nonsense probably null
R5000:Dlgap1 UTSW 17 70766058 missense probably damaging 1.00
R5004:Dlgap1 UTSW 17 70718227 critical splice donor site probably null
R5291:Dlgap1 UTSW 17 70718210 missense probably benign 0.03
R5304:Dlgap1 UTSW 17 70815207 missense probably damaging 1.00
R5473:Dlgap1 UTSW 17 70517030 intron probably benign
R5522:Dlgap1 UTSW 17 70516998 critical splice donor site probably null
R5586:Dlgap1 UTSW 17 70818161 missense probably damaging 1.00
R5742:Dlgap1 UTSW 17 70718199 missense probably benign
R5802:Dlgap1 UTSW 17 70766091 critical splice donor site probably null
R5850:Dlgap1 UTSW 17 70787092 missense probably damaging 1.00
R5857:Dlgap1 UTSW 17 70815393 intron probably benign
R5883:Dlgap1 UTSW 17 70517013 intron probably benign
R6045:Dlgap1 UTSW 17 70818098 missense probably damaging 1.00
R6336:Dlgap1 UTSW 17 70815289 missense probably damaging 1.00
R6448:Dlgap1 UTSW 17 70593330 missense possibly damaging 0.59
R6682:Dlgap1 UTSW 17 70787123 missense probably damaging 1.00
R6795:Dlgap1 UTSW 17 70818074 missense possibly damaging 0.48
R7147:Dlgap1 UTSW 17 70662758 missense probably benign 0.00
R7187:Dlgap1 UTSW 17 70516098 missense possibly damaging 0.93
R7382:Dlgap1 UTSW 17 70787174 missense probably damaging 1.00
R7859:Dlgap1 UTSW 17 70516688 missense probably benign
R7932:Dlgap1 UTSW 17 70516238 missense probably damaging 1.00
T0975:Dlgap1 UTSW 17 70516955 missense possibly damaging 0.86
Z1176:Dlgap1 UTSW 17 70815209 missense probably damaging 1.00
Z1177:Dlgap1 UTSW 17 70662743 missense probably benign
Posted On2015-04-16