Incidental Mutation 'R0312:Dlg1'
ID 25314
Institutional Source Beutler Lab
Gene Symbol Dlg1
Ensembl Gene ENSMUSG00000022770
Gene Name discs large MAGUK scaffold protein 1
Synonyms B130052P05Rik, SAP97, Dlgh1
MMRRC Submission 038522-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0312 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 31482261-31692174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31609085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 227 (T227A)
Ref Sequence ENSEMBL: ENSMUSP00000138782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023454] [ENSMUST00000064477] [ENSMUST00000100001] [ENSMUST00000115196] [ENSMUST00000115201] [ENSMUST00000115205] [ENSMUST00000132176]
AlphaFold Q811D0
Predicted Effect probably benign
Transcript: ENSMUST00000023454
AA Change: T227A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: T227A

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: T260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: T260A

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: T260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: T260A

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: ENSMUST00000115196
AA Change: T177A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: T177A

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 benign
Transcript: ENSMUST00000115201
AA Change: T260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: T260A

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: T260A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: T260A

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: ENSMUST00000131136
SMART Domains Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770

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: T227A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
AA Change: T227A

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
Meta Mutation Damage Score 0.0609 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 90.3%
Validation Efficiency 100% (60/60)
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
Abcb5 G T 12: 118,836,572 (GRCm39) A1113D probably damaging Het
Adcy1 G T 11: 7,099,538 (GRCm39) A673S probably benign Het
Apob T A 12: 8,059,034 (GRCm39) H2505Q probably benign Het
Arhgap12 A G 18: 6,061,982 (GRCm39) probably benign Het
Bcl9 C T 3: 97,116,727 (GRCm39) E656K probably benign Het
Bnc1 C T 7: 81,627,072 (GRCm39) R106H possibly damaging Het
Ccdc54 T C 16: 50,411,165 (GRCm39) K34E possibly damaging Het
Cfap65 G A 1: 74,943,226 (GRCm39) R1600W probably damaging Het
Csmd1 A T 8: 16,034,760 (GRCm39) N2470K probably damaging Het
Cspp1 T C 1: 10,129,054 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,684 (GRCm39) I699N probably damaging Het
Dhx40 G A 11: 86,662,775 (GRCm39) T639I probably damaging Het
Dnah10 G A 5: 124,873,433 (GRCm39) probably benign Het
Dnah3 T A 7: 119,644,882 (GRCm39) K1133M probably damaging Het
Dock5 G C 14: 68,033,440 (GRCm39) F976L possibly damaging Het
Evc C T 5: 37,485,885 (GRCm39) C97Y possibly damaging Het
Fbxw7 T C 3: 84,874,876 (GRCm39) probably benign Het
Fggy A C 4: 95,732,422 (GRCm39) D112A probably damaging Het
Fpgs A G 2: 32,574,813 (GRCm39) Y435H probably damaging Het
Fryl T A 5: 73,230,231 (GRCm39) H1642L probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gda T A 19: 21,394,369 (GRCm39) I237F probably damaging Het
Glt1d1 A G 5: 127,768,134 (GRCm39) N247S probably damaging Het
Gm7647 T C 5: 95,110,839 (GRCm39) S7P probably benign Het
Gpr31b C T 17: 13,270,498 (GRCm39) V224I probably damaging Het
Hlf G A 11: 90,278,701 (GRCm39) P121L possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ism1 G T 2: 139,520,592 (GRCm39) M1I probably null Het
Kansl1l T C 1: 66,817,265 (GRCm39) N365S probably null Het
Lama1 T C 17: 68,082,846 (GRCm39) L1368P possibly damaging Het
Lima1 A G 15: 99,678,968 (GRCm39) V491A possibly damaging Het
Lrch1 G T 14: 75,185,034 (GRCm39) H23N possibly damaging Het
Lrp1b A G 2: 41,172,183 (GRCm39) V1488A probably damaging Het
Lrp8 T C 4: 107,664,052 (GRCm39) probably benign Het
Lrrc8e A G 8: 4,285,733 (GRCm39) S653G probably benign Het
Mnat1 A G 12: 73,228,558 (GRCm39) T141A possibly damaging Het
Mpeg1 C A 19: 12,439,767 (GRCm39) N408K probably damaging Het
Myo7b T C 18: 32,147,390 (GRCm39) E51G possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naa35 A G 13: 59,757,395 (GRCm39) T257A probably benign Het
Obox5 T A 7: 15,491,485 (GRCm39) H8Q probably damaging Het
Or1j4 A T 2: 36,740,372 (GRCm39) I105L probably benign Het
Or51q1c T C 7: 103,653,232 (GRCm39) V250A probably damaging Het
Or5h26 A T 16: 58,988,202 (GRCm39) F101L probably benign Het
Phldb2 G T 16: 45,609,410 (GRCm39) T732N probably damaging Het
Phyhip G T 14: 70,704,410 (GRCm39) A210S possibly damaging Het
Pik3r4 A G 9: 105,563,409 (GRCm39) D1262G probably damaging Het
Pip G A 6: 41,826,798 (GRCm39) E48K possibly damaging Het
Plk4 C T 3: 40,767,982 (GRCm39) L74F probably damaging Het
Prdm14 G A 1: 13,189,031 (GRCm39) R438W probably damaging Het
Rab19 G A 6: 39,361,023 (GRCm39) R57H probably benign Het
Rtl1 G T 12: 109,556,661 (GRCm39) P1726Q probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Skint6 A T 4: 112,666,297 (GRCm39) V1176D possibly damaging Het
Slc12a1 A G 2: 125,067,948 (GRCm39) I1012V probably damaging Het
Slc1a3 C T 15: 8,665,721 (GRCm39) M509I probably benign Het
Spata18 G A 5: 73,824,224 (GRCm39) G35E probably benign Het
Spata31h1 A T 10: 82,120,203 (GRCm39) I4269N probably damaging Het
Sspo C T 6: 48,432,335 (GRCm39) P801L possibly damaging Het
Ugt2b37 C T 5: 87,398,524 (GRCm39) G304D probably damaging Het
Vmn2r25 A T 6: 123,805,539 (GRCm39) probably benign Het
Xrcc6 C A 15: 81,911,423 (GRCm39) probably null 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
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'- GGGACATTTTCTTCAGCCTCACCTAC -3'
(R):5'- CAAAGAGCAAAGTGATCTGAGAGTTGGT -3'

Sequencing Primer
(F):5'- ACGTCTTTCCTTACGAAGAGC -3'
(R):5'- TGTCAACAGCACAGCATACG -3'
Posted On 2013-04-16