Incidental Mutation 'R8041:Dlg1'
ID 618551
Institutional Source Beutler Lab
Gene Symbol Dlg1
Ensembl Gene ENSMUSG00000022770
Gene Name discs large MAGUK scaffold protein 1
Synonyms B130052P05Rik, SAP97, Dlgh1
MMRRC Submission 067478-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8041 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 31482261-31692174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31656885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 593 (D593G)
Ref Sequence ENSEMBL: ENSMUSP00000064280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023454] [ENSMUST00000064477] [ENSMUST00000100001] [ENSMUST00000115196] [ENSMUST00000115201] [ENSMUST00000115205] [ENSMUST00000132176]
AlphaFold Q811D0
Predicted Effect probably damaging
Transcript: ENSMUST00000023454
AA Change: D560G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: D560G

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 possibly damaging
Transcript: ENSMUST00000064477
AA Change: D593G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: D593G

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 possibly damaging
Transcript: ENSMUST00000100001
AA Change: D593G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: D593G

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 damaging
Transcript: ENSMUST00000115196
AA Change: D510G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: D510G

DomainStartEndE-ValueType
low complexity region 13 27 N/A INTRINSIC
MAGUK_N_PEST 30 140 1.81e-14 SMART
PDZ 149 228 5.98e-22 SMART
PDZ 244 323 1.94e-21 SMART
PDZ 391 464 1.84e-22 SMART
low complexity region 484 492 N/A INTRINSIC
SH3 501 567 1.27e-9 SMART
GuKc 643 822 1.54e-75 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115201
AA Change: D593G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: D593G

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 possibly damaging
Transcript: ENSMUST00000115205
AA Change: D593G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: D593G

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
Predicted Effect
SMART Domains Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
AA Change: D288G

DomainStartEndE-ValueType
PDZ 38 117 1.94e-21 SMART
PDZ 170 243 1.84e-22 SMART
low complexity region 263 271 N/A INTRINSIC
SH3 280 346 1.27e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132176
AA Change: T547A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
AA Change: T547A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 A T 18: 61,891,754 (GRCm39) L21Q probably damaging Het
Ago1 G A 4: 126,335,729 (GRCm39) R661C probably damaging Het
Albfm1 T A 5: 90,740,864 (GRCm39) probably null Het
Aoc3 T C 11: 101,223,132 (GRCm39) V456A probably benign Het
Aopep G C 13: 63,180,921 (GRCm39) W294C probably damaging Het
Cacna1b A T 2: 24,547,311 (GRCm39) F1223L probably damaging Het
Ccdc40 T C 11: 119,122,507 (GRCm39) F33S possibly damaging Het
Ccnjl T C 11: 43,470,538 (GRCm39) V102A probably damaging Het
Cd48 T C 1: 171,526,958 (GRCm39) V128A probably damaging Het
Cmah A G 13: 24,652,601 (GRCm39) D577G probably benign Het
Cnnm4 A G 1: 36,511,174 (GRCm39) K134R probably benign Het
Cntnap5a T A 1: 116,187,209 (GRCm39) Y594N probably damaging Het
Col14a1 A G 15: 55,318,626 (GRCm39) E1375G unknown Het
Comtd1 T A 14: 21,897,985 (GRCm39) E153V probably benign Het
Dchs1 T A 7: 105,404,395 (GRCm39) T2716S probably benign Het
Ddx4 A T 13: 112,762,928 (GRCm39) S143T probably benign Het
Dok6 A G 18: 89,578,213 (GRCm39) I68T possibly damaging Het
Dpysl5 A G 5: 30,953,658 (GRCm39) I563V probably benign Het
Eapp A G 12: 54,739,650 (GRCm39) S56P probably damaging Het
Efcab3 T G 11: 104,810,305 (GRCm39) D3147E unknown Het
Fgd5 A T 6: 92,038,837 (GRCm39) D1157V probably damaging Het
Fmn1 T A 2: 113,194,939 (GRCm39) L213Q unknown Het
Foxo1 T A 3: 52,253,044 (GRCm39) Y402* probably null Het
Fyb2 C A 4: 104,857,681 (GRCm39) F619L possibly damaging Het
Gtf2i A T 5: 134,322,599 (GRCm39) probably null Het
Hrh1 G A 6: 114,456,878 (GRCm39) R53H not run Het
Hydin A T 8: 111,301,626 (GRCm39) M3786L probably benign Het
Ifi207 T C 1: 173,555,268 (GRCm39) R805G possibly damaging Het
Igfn1 C A 1: 135,895,797 (GRCm39) G1590* probably null Het
Jph3 A C 8: 122,516,201 (GRCm39) I740L probably benign Het
Kbtbd7 T A 14: 79,666,144 (GRCm39) F659I probably benign Het
Kcns2 A T 15: 34,839,291 (GRCm39) Q218L probably benign Het
Kcnt2 A G 1: 140,537,398 (GRCm39) N1119S probably benign Het
Krit1 A T 5: 3,857,309 (GRCm39) H38L probably benign Het
Krt20 T A 11: 99,328,663 (GRCm39) R87S probably damaging Het
Ly6g5c A G 17: 35,330,808 (GRCm39) E110G probably damaging Het
Mamdc4 A G 2: 25,454,707 (GRCm39) F1035S probably damaging Het
Mmp13 A T 9: 7,280,865 (GRCm39) D416V probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,352,768 (GRCm39) L566* probably null Het
Or12d17 T C 17: 37,777,540 (GRCm39) F148L probably benign Het
Or4b12 A T 2: 90,096,488 (GRCm39) C95* probably null Het
Or51ai2 T C 7: 103,586,788 (GRCm39) L67P probably damaging Het
Or5p69 T C 7: 107,966,741 (GRCm39) F15L probably damaging Het
Pcdhb19 T C 18: 37,630,367 (GRCm39) L54P possibly damaging Het
Pitpnm2 A G 5: 124,259,519 (GRCm39) F1272S probably damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Reep4 T C 14: 70,785,627 (GRCm39) Y186H probably benign Het
Rpgrip1 A G 14: 52,356,702 (GRCm39) T89A possibly damaging Het
Shc1 T C 3: 89,330,260 (GRCm39) S175P probably damaging Het
Sipa1l3 A G 7: 29,063,645 (GRCm39) S1156P probably damaging Het
Slc1a3 G A 15: 8,665,683 (GRCm39) P522L probably benign Het
Slc6a17 T A 3: 107,381,744 (GRCm39) T446S probably damaging Het
Tas1r2 A T 4: 139,387,290 (GRCm39) N250Y possibly damaging Het
Tex15 G T 8: 34,065,874 (GRCm39) R1768L probably damaging Het
Ttll9 G C 2: 152,844,956 (GRCm39) Q441H possibly damaging Het
Unc5c T A 3: 141,171,545 (GRCm39) V24E possibly damaging Het
Unc79 A G 12: 103,054,726 (GRCm39) E888G probably benign Het
Vmn2r19 T C 6: 123,312,750 (GRCm39) S607P possibly damaging Het
Vsig1 C T X: 139,833,875 (GRCm39) H232Y probably benign Het
Wdfy4 A G 14: 32,875,965 (GRCm39) probably null Het
Zbtb49 T C 5: 38,358,198 (GRCm39) D685G possibly 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
R0268:Dlg1 UTSW 16 31,503,011 (GRCm39) missense 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
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'- CATGCAGTCTATCCTAAAACACTG -3'
(R):5'- AACACCATGTACCTTCGTTTACTAG -3'

Sequencing Primer
(F):5'- CTTAGACTGTTTCCATTACAGAGTG -3'
(R):5'- GGAATCACTCCGACTTCGTCAC -3'
Posted On 2020-01-23