Incidental Mutation 'R0268:Dlg1'
ID 35103
Institutional Source Beutler Lab
Gene Symbol Dlg1
Ensembl Gene ENSMUSG00000022770
Gene Name discs large MAGUK scaffold protein 1
Synonyms B130052P05Rik, SAP97, Dlgh1
MMRRC Submission 038494-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0268 (G1)
Quality Score 183
Status Validated
Chromosome 16
Chromosomal Location 31482261-31692174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31503011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 73 (C73R)
Ref Sequence ENSEMBL: ENSMUSP00000138782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023454] [ENSMUST00000064477] [ENSMUST00000100001] [ENSMUST00000115201] [ENSMUST00000115205] [ENSMUST00000132176]
AlphaFold Q811D0
Predicted Effect probably benign
Transcript: ENSMUST00000023454
AA Change: C73R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: C73R

DomainStartEndE-ValueType
L27 7 67 7.33e-12 SMART
MAGUK_N_PEST 106 190 4.33e-44 SMART
PDZ 199 278 5.98e-22 SMART
PDZ 294 373 1.94e-21 SMART
PDZ 441 514 1.84e-22 SMART
low complexity region 534 542 N/A INTRINSIC
SH3 551 617 1.27e-9 SMART
GuKc 681 860 1.54e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064477
AA Change: C73R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: C73R

DomainStartEndE-ValueType
L27 7 67 7.33e-12 SMART
MAGUK_N_PEST 106 223 6.07e-57 SMART
PDZ 232 311 5.98e-22 SMART
PDZ 327 406 1.94e-21 SMART
PDZ 474 547 1.84e-22 SMART
low complexity region 567 575 N/A INTRINSIC
SH3 584 650 1.27e-9 SMART
GuKc 736 915 1.54e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100001
AA Change: C73R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: C73R

DomainStartEndE-ValueType
L27 7 67 7.33e-12 SMART
MAGUK_N_PEST 106 223 6.07e-57 SMART
PDZ 232 311 5.98e-22 SMART
PDZ 327 406 1.94e-21 SMART
PDZ 474 547 1.84e-22 SMART
low complexity region 567 575 N/A INTRINSIC
SH3 584 650 1.27e-9 SMART
GuKc 714 893 1.54e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115201
AA Change: C73R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: C73R

DomainStartEndE-ValueType
L27 7 67 7.33e-12 SMART
MAGUK_N_PEST 106 223 6.07e-57 SMART
PDZ 232 311 5.98e-22 SMART
PDZ 327 406 1.94e-21 SMART
PDZ 474 547 1.84e-22 SMART
low complexity region 567 575 N/A INTRINSIC
SH3 584 650 1.27e-9 SMART
GuKc 721 900 1.54e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115205
AA Change: C73R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: C73R

DomainStartEndE-ValueType
L27 7 67 7.33e-12 SMART
MAGUK_N_PEST 106 223 6.07e-57 SMART
PDZ 232 311 5.98e-22 SMART
PDZ 327 406 1.94e-21 SMART
PDZ 474 547 1.84e-22 SMART
low complexity region 567 575 N/A INTRINSIC
SH3 584 650 1.27e-9 SMART
GuKc 714 893 1.54e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132176
AA Change: C73R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
AA Change: C73R

DomainStartEndE-ValueType
L27 7 67 7.33e-12 SMART
MAGUK_N_PEST 106 190 4.33e-44 SMART
PDZ 199 278 5.98e-22 SMART
PDZ 294 373 1.94e-21 SMART
PDZ 426 499 1.84e-22 SMART
low complexity region 519 527 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232316
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 95.9%
  • 20x: 93.0%
Validation Efficiency 98% (93/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal lethality, craniofacial defects, and abnormal eye morphology. Mice homozygous for knock-out alleles exhibit neonatal lethality, kidney defects, reproductive organ morphology, and cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,274,027 (GRCm39) noncoding transcript Het
Aadacl4 A T 4: 144,349,565 (GRCm39) H274L probably benign Het
Aldh1a7 T A 19: 20,686,866 (GRCm39) probably null Het
Ap3m1 A C 14: 21,087,170 (GRCm39) probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Avpr1a T C 10: 122,285,614 (GRCm39) V302A probably damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Cd209e T C 8: 3,899,125 (GRCm39) I196V probably benign Het
Cdc42bpa G T 1: 179,983,347 (GRCm39) probably benign Het
Cdcp3 A G 7: 130,839,905 (GRCm39) D609G probably damaging Het
Clec16a T A 16: 10,462,692 (GRCm39) L670* probably null Het
Cmtm2b A G 8: 105,049,066 (GRCm39) E27G probably damaging Het
Col4a1 T A 8: 11,317,588 (GRCm39) probably benign Het
Cyp26b1 A T 6: 84,551,554 (GRCm39) F221I probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dip2c G A 13: 9,687,186 (GRCm39) R1270H probably damaging Het
Dnah8 A G 17: 30,988,681 (GRCm39) D3217G probably damaging Het
Dtx1 T C 5: 120,819,356 (GRCm39) E614G probably damaging Het
Dut C A 2: 125,099,011 (GRCm39) A166E probably damaging Het
Ebf1 C A 11: 44,534,240 (GRCm39) D166E probably damaging Het
Egln2 A T 7: 26,864,672 (GRCm39) D84E possibly damaging Het
Exosc7 T A 9: 122,948,025 (GRCm39) S65T probably benign Het
Fam83e G A 7: 45,376,334 (GRCm39) R349Q probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fras1 A G 5: 96,884,868 (GRCm39) N2582S probably damaging Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gfral A T 9: 76,104,383 (GRCm39) C210S probably damaging Het
Gls GGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTG 1: 52,271,853 (GRCm39) probably benign Het
Hcn4 A C 9: 58,767,445 (GRCm39) E1002A unknown Het
Hcrtr2 A G 9: 76,135,470 (GRCm39) V449A probably benign Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 C A 12: 51,815,890 (GRCm39) S1394I probably damaging Het
Hecw2 A G 1: 53,965,857 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itsn2 G A 12: 4,750,333 (GRCm39) R1199Q probably benign Het
Kcnj3 C A 2: 55,484,971 (GRCm39) Y356* probably null Het
Klb T A 5: 65,506,180 (GRCm39) D142E probably benign Het
Klhl35 T A 7: 99,120,958 (GRCm39) S409T probably benign Het
Krt16 T A 11: 100,137,351 (GRCm39) probably benign Het
Krt82 C A 15: 101,450,148 (GRCm39) R516L probably benign Het
Lce3a A T 3: 92,833,038 (GRCm39) C21S unknown Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Map2 A T 1: 66,419,881 (GRCm39) K71* probably null Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Mycbp2 T A 14: 103,551,761 (GRCm39) R157* probably null Het
Nat10 C A 2: 103,558,262 (GRCm39) probably benign Het
Obscn G A 11: 58,958,098 (GRCm39) T3810M possibly damaging Het
Or13a19 G A 7: 139,903,068 (GRCm39) S152N possibly damaging Het
Or1x6 T A 11: 50,939,768 (GRCm39) M278K probably damaging Het
Or5d35 A T 2: 87,855,812 (GRCm39) I249F probably damaging Het
Or5g29 A G 2: 85,421,645 (GRCm39) T254A possibly damaging Het
Or6c209 A T 10: 129,483,045 (GRCm39) D16V possibly damaging Het
Or7a38 C T 10: 78,753,439 (GRCm39) T255I probably damaging Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgm2 T A 5: 64,263,151 (GRCm39) V266E probably damaging Het
Phip G A 9: 82,753,341 (GRCm39) T1801I probably damaging Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Ppp1r12a T A 10: 108,109,242 (GRCm39) probably benign Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Ptprq A T 10: 107,541,409 (GRCm39) D372E probably benign Het
Ptprr G A 10: 116,088,868 (GRCm39) V340I possibly damaging Het
Qki A G 17: 10,428,575 (GRCm39) probably benign Het
Qpct T A 17: 79,385,081 (GRCm39) D240E probably benign Het
Ren1 A G 1: 133,283,349 (GRCm39) T162A possibly damaging Het
Rif1 T C 2: 51,980,298 (GRCm39) probably null Het
Sart3 A G 5: 113,890,460 (GRCm39) V461A probably damaging Het
Saxo4 A G 19: 10,454,449 (GRCm39) V329A possibly damaging Het
Scgb1b24 G A 7: 33,443,278 (GRCm39) G19R probably null Het
Spen A T 4: 141,204,868 (GRCm39) I1253N unknown Het
Sspo C A 6: 48,442,489 (GRCm39) H1995N probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Togaram2 T C 17: 72,004,993 (GRCm39) probably null Het
Trim65 T A 11: 116,017,470 (GRCm39) probably benign Het
Trpm3 T A 19: 22,874,885 (GRCm39) probably null Het
Ubxn7 T C 16: 32,178,864 (GRCm39) I87T probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r102 A G 17: 19,898,112 (GRCm39) T376A probably benign Het
Vmn2r105 A T 17: 20,428,938 (GRCm39) C713S probably benign Het
Zbtb45 C T 7: 12,742,254 (GRCm39) M1I probably null Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Zfp932 T C 5: 110,156,929 (GRCm39) I176T probably benign Het
Zswim1 G A 2: 164,668,046 (GRCm39) E433K probably damaging Het
Other mutations in Dlg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Dlg1 APN 16 31,675,256 (GRCm39) splice site probably benign
IGL02277:Dlg1 APN 16 31,609,082 (GRCm39) missense probably damaging 1.00
IGL02897:Dlg1 APN 16 31,590,674 (GRCm39) critical splice donor site probably null
IGL03025:Dlg1 APN 16 31,624,545 (GRCm39) missense probably benign 0.00
IGL03271:Dlg1 APN 16 31,676,710 (GRCm39) missense possibly damaging 0.94
PIT4812001:Dlg1 UTSW 16 31,665,703 (GRCm39) missense probably benign 0.01
R0068:Dlg1 UTSW 16 31,655,018 (GRCm39) unclassified probably benign
R0115:Dlg1 UTSW 16 31,624,508 (GRCm39) nonsense probably null
R0128:Dlg1 UTSW 16 31,676,883 (GRCm39) critical splice donor site probably null
R0257:Dlg1 UTSW 16 31,661,671 (GRCm39) splice site probably benign
R0312:Dlg1 UTSW 16 31,609,085 (GRCm39) missense probably benign
R0321:Dlg1 UTSW 16 31,676,854 (GRCm39) missense probably damaging 1.00
R0355:Dlg1 UTSW 16 31,502,992 (GRCm39) nonsense probably null
R0538:Dlg1 UTSW 16 31,615,682 (GRCm39) critical splice acceptor site probably null
R0540:Dlg1 UTSW 16 31,656,992 (GRCm39) missense possibly damaging 0.90
R0607:Dlg1 UTSW 16 31,656,992 (GRCm39) missense possibly damaging 0.90
R0607:Dlg1 UTSW 16 31,484,398 (GRCm39) missense probably benign 0.37
R0894:Dlg1 UTSW 16 31,561,965 (GRCm39) missense probably benign 0.03
R1107:Dlg1 UTSW 16 31,665,734 (GRCm39) missense probably benign 0.00
R1349:Dlg1 UTSW 16 31,631,638 (GRCm39) missense probably damaging 1.00
R1372:Dlg1 UTSW 16 31,631,638 (GRCm39) missense probably damaging 1.00
R1468:Dlg1 UTSW 16 31,661,640 (GRCm39) splice site probably null
R1468:Dlg1 UTSW 16 31,661,640 (GRCm39) splice site probably null
R1696:Dlg1 UTSW 16 31,600,616 (GRCm39) missense probably damaging 0.96
R1772:Dlg1 UTSW 16 31,484,485 (GRCm39) missense possibly damaging 0.75
R1795:Dlg1 UTSW 16 31,561,965 (GRCm39) missense probably benign 0.03
R2106:Dlg1 UTSW 16 31,631,574 (GRCm39) missense probably damaging 1.00
R2206:Dlg1 UTSW 16 31,672,664 (GRCm39) missense probably benign 0.18
R2207:Dlg1 UTSW 16 31,672,664 (GRCm39) missense probably benign 0.18
R2846:Dlg1 UTSW 16 31,682,015 (GRCm39) missense probably damaging 1.00
R3954:Dlg1 UTSW 16 31,676,826 (GRCm39) missense probably damaging 1.00
R4714:Dlg1 UTSW 16 31,609,079 (GRCm39) missense probably damaging 1.00
R4758:Dlg1 UTSW 16 31,610,570 (GRCm39) missense possibly damaging 0.92
R4898:Dlg1 UTSW 16 31,676,764 (GRCm39) missense probably damaging 1.00
R4964:Dlg1 UTSW 16 31,573,626 (GRCm39) missense probably benign 0.21
R4966:Dlg1 UTSW 16 31,573,626 (GRCm39) missense probably benign 0.21
R4985:Dlg1 UTSW 16 31,606,953 (GRCm39) splice site probably null
R5068:Dlg1 UTSW 16 31,503,113 (GRCm39) critical splice donor site probably null
R5069:Dlg1 UTSW 16 31,503,113 (GRCm39) critical splice donor site probably null
R5078:Dlg1 UTSW 16 31,675,287 (GRCm39) nonsense probably null
R5090:Dlg1 UTSW 16 31,656,902 (GRCm39) missense probably damaging 1.00
R5225:Dlg1 UTSW 16 31,655,085 (GRCm39) missense probably benign 0.21
R5888:Dlg1 UTSW 16 31,610,704 (GRCm39) critical splice donor site probably null
R5950:Dlg1 UTSW 16 31,484,401 (GRCm39) missense probably damaging 1.00
R6029:Dlg1 UTSW 16 31,612,388 (GRCm39) missense probably damaging 1.00
R6132:Dlg1 UTSW 16 31,655,059 (GRCm39) missense possibly damaging 0.93
R6246:Dlg1 UTSW 16 31,484,468 (GRCm39) missense probably benign 0.00
R6294:Dlg1 UTSW 16 31,656,942 (GRCm39) missense probably damaging 1.00
R6322:Dlg1 UTSW 16 31,675,297 (GRCm39) missense probably damaging 1.00
R7147:Dlg1 UTSW 16 31,610,672 (GRCm39) missense probably benign
R7216:Dlg1 UTSW 16 31,615,736 (GRCm39) frame shift probably null
R7963:Dlg1 UTSW 16 31,609,119 (GRCm39) missense probably null 0.92
R7985:Dlg1 UTSW 16 31,606,923 (GRCm39) nonsense probably null
R8041:Dlg1 UTSW 16 31,656,885 (GRCm39) missense possibly damaging 0.91
R8111:Dlg1 UTSW 16 31,661,620 (GRCm39) missense possibly damaging 0.79
R8751:Dlg1 UTSW 16 31,600,648 (GRCm39) missense probably benign
R9052:Dlg1 UTSW 16 31,656,942 (GRCm39) missense probably damaging 1.00
R9674:Dlg1 UTSW 16 31,610,580 (GRCm39) missense probably damaging 0.98
R9725:Dlg1 UTSW 16 31,665,683 (GRCm39) missense probably benign 0.44
R9741:Dlg1 UTSW 16 31,676,735 (GRCm39) nonsense probably null
X0021:Dlg1 UTSW 16 31,484,526 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGCACCGTCACTGTTTACATTTGA -3'
(R):5'- GCTTTCTGAGATCTACCACCAAGACAC -3'

Sequencing Primer
(F):5'- gcaagagcagggggcag -3'
(R):5'- AGACAGAATCAAGATTCTTGACAC -3'
Posted On 2013-05-09