Incidental Mutation 'R9674:Dlg1'
ID 728274
Institutional Source Beutler Lab
Gene Symbol Dlg1
Ensembl Gene ENSMUSG00000022770
Gene Name discs large MAGUK scaffold protein 1
Synonyms B130052P05Rik, SAP97, Dlgh1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9674 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 31482261-31692174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31610580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 287 (V287A)
Ref Sequence ENSEMBL: ENSMUSP00000064280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023454] [ENSMUST00000064477] [ENSMUST00000100001] [ENSMUST00000115196] [ENSMUST00000115201] [ENSMUST00000115205] [ENSMUST00000132176]
AlphaFold Q811D0
Predicted Effect possibly damaging
Transcript: ENSMUST00000023454
AA Change: V254A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: V254A

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 damaging
Transcript: ENSMUST00000064477
AA Change: V287A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: V287A

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 damaging
Transcript: ENSMUST00000100001
AA Change: V287A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: V287A

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 possibly damaging
Transcript: ENSMUST00000115196
AA Change: V204A

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: V204A

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: V287A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: V287A

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 damaging
Transcript: ENSMUST00000115205
AA Change: V287A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: V287A

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 damaging
Transcript: ENSMUST00000132176
AA Change: V254A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770
AA Change: V254A

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A T 3: 59,914,472 (GRCm39) D25V possibly damaging Het
Abca16 A G 7: 120,074,668 (GRCm39) probably null Het
Adam9 T A 8: 25,441,014 (GRCm39) T820S possibly damaging Het
Adamts6 G A 13: 104,563,448 (GRCm39) V647I probably benign Het
Afap1l2 T A 19: 56,922,195 (GRCm39) R14S probably damaging Het
Aff3 C T 1: 38,248,864 (GRCm39) V748I probably damaging Het
Aldh5a1 T C 13: 25,110,038 (GRCm39) I166V probably benign Het
Alx4 G T 2: 93,507,858 (GRCm39) L384F probably damaging Het
Ank3 T A 10: 69,824,549 (GRCm39) S1073T Het
Ankrd50 A G 3: 38,506,574 (GRCm39) C275R unknown Het
Apol11a G A 15: 77,401,347 (GRCm39) S278N possibly damaging Het
Astn2 T A 4: 65,460,963 (GRCm39) D1057V probably damaging Het
Atp11a T C 8: 12,877,525 (GRCm39) V317A probably benign Het
Cacna1i A G 15: 80,264,629 (GRCm39) T1486A probably damaging Het
Cadps A G 14: 12,454,291 (GRCm38) F1076L probably damaging Het
Cct6b T C 11: 82,645,838 (GRCm39) T154A probably damaging Het
Cfap69 A G 5: 5,697,021 (GRCm39) F92L possibly damaging Het
Cyp19a1 A T 9: 54,074,141 (GRCm39) I471K possibly damaging Het
Cyp26a1 T A 19: 37,689,726 (GRCm39) M474K probably damaging Het
Cyp4a12a T C 4: 115,186,156 (GRCm39) S439P probably benign Het
Cyp4f37 T A 17: 32,846,841 (GRCm39) probably null Het
Dgki A G 6: 37,027,157 (GRCm39) Y395H probably damaging Het
Dlx2 C T 2: 71,376,496 (GRCm39) G81S possibly damaging Het
Dnah8 G T 17: 30,998,112 (GRCm39) K3448N possibly damaging Het
Dnhd1 C T 7: 105,363,429 (GRCm39) P3997L probably damaging Het
Drosha C G 15: 12,890,170 (GRCm39) D910E probably damaging Het
Dscam A G 16: 96,442,036 (GRCm39) V1597A probably benign Het
Eif1b A G 9: 120,323,265 (GRCm39) K42E possibly damaging Het
Enpp2 C A 15: 54,816,135 (GRCm39) G10W unknown Het
Exd2 A G 12: 80,536,372 (GRCm39) N334S probably benign Het
Glt6d1 T A 2: 25,684,382 (GRCm39) N208I probably benign Het
Grin2a T A 16: 9,471,265 (GRCm39) K668* probably null Het
Grm1 A G 10: 10,609,028 (GRCm39) V535A possibly damaging Het
H2ac7 A G 13: 23,758,862 (GRCm39) D73G possibly damaging Het
Hey2 A T 10: 30,710,413 (GRCm39) D113E probably benign Het
Ighm T A 12: 113,385,139 (GRCm39) I274F Het
Ighv1-58 G T 12: 115,275,847 (GRCm39) T97K probably damaging Het
Igkv6-20 T C 6: 70,312,852 (GRCm39) H107R possibly damaging Het
Il15 C T 8: 83,069,938 (GRCm39) G42D probably damaging Het
Jakmip2 T A 18: 43,704,961 (GRCm39) M347L probably benign Het
Kcnh7 T C 2: 62,595,060 (GRCm39) Y670C probably damaging Het
Ktn1 G C 14: 47,922,213 (GRCm39) C458S possibly damaging Het
Lama5 C T 2: 179,840,267 (GRCm39) probably null Het
Lce1i T C 3: 92,685,113 (GRCm39) Q21R unknown Het
Lmo7 A T 14: 102,078,340 (GRCm39) E81D probably damaging Het
Lrrc4b A T 7: 44,111,852 (GRCm39) I575F probably damaging Het
Mmrn1 C T 6: 60,948,072 (GRCm39) Q272* probably null Het
Nbea A T 3: 55,966,183 (GRCm39) D426E probably damaging Het
Neto1 G A 18: 86,491,827 (GRCm39) V243M probably damaging Het
Notch1 G A 2: 26,361,308 (GRCm39) R1061C probably damaging Het
Or5g25 T G 2: 85,478,593 (GRCm39) Q24P possibly damaging Het
Or5p67 A T 7: 107,922,271 (GRCm39) I204N probably benign Het
Osgin1 A G 8: 120,172,499 (GRCm39) D431G possibly damaging Het
Ppp4r1 A G 17: 66,140,127 (GRCm39) D675G probably damaging Het
Pramel25 T A 4: 143,520,162 (GRCm39) H135Q probably benign Het
Prkdc T A 16: 15,533,819 (GRCm39) H1552Q probably damaging Het
Rbfox1 T C 16: 7,170,885 (GRCm39) F282L probably benign Het
Ret T C 6: 118,130,830 (GRCm39) D1111G probably damaging Het
Rnf224 A T 2: 25,126,330 (GRCm39) Y8N probably benign Het
Rtl1 G T 12: 109,559,024 (GRCm39) H938Q possibly damaging Het
Sec23ip T G 7: 128,380,187 (GRCm39) D867E probably damaging Het
Sema3f A T 9: 107,566,947 (GRCm39) L194Q possibly damaging Het
Sfmbt1 C T 14: 30,495,851 (GRCm39) R45C probably damaging Het
Slc7a4 T C 16: 17,392,208 (GRCm39) I409V probably benign Het
Slco6c1 T A 1: 97,047,565 (GRCm39) D246V probably damaging Het
Smap2 C T 4: 120,826,745 (GRCm39) M426I probably benign Het
Spata31h1 C T 10: 82,120,030 (GRCm39) V4327I possibly damaging Het
Tmem184b T A 15: 79,249,524 (GRCm39) T315S probably benign Het
Trpm4 A T 7: 44,982,811 (GRCm39) D30E possibly damaging Het
Ttc7b T A 12: 100,432,553 (GRCm39) K154N probably benign Het
Vps13b T A 15: 35,607,380 (GRCm39) H1104Q probably damaging Het
Wnk4 T A 11: 101,166,874 (GRCm39) L1010Q unknown Het
Xpo6 T A 7: 125,723,700 (GRCm39) H537L probably benign Het
Xrn1 A T 9: 95,855,645 (GRCm39) Y314F probably damaging Het
Xrn1 A T 9: 95,855,647 (GRCm39) I315F possibly damaging Het
Zap70 T C 1: 36,810,150 (GRCm39) Y87H probably benign Het
Zbtb4 T C 11: 69,669,973 (GRCm39) Y899H probably damaging Het
Zcchc7 T A 4: 44,931,418 (GRCm39) H202Q possibly damaging Het
Zeb2 A G 2: 44,891,725 (GRCm39) Y276H probably damaging Het
Zfp867 T G 11: 59,355,850 (GRCm39) Q68P probably benign 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
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
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'- CTAAGTACCTAGCATGTGGTTAATG -3'
(R):5'- ACTCAGATTCTGTAGAGGATAACAG -3'

Sequencing Primer
(F):5'- TGCTGGCTTTTGAGAAATGTATAC -3'
(R):5'- TTCTGTAGAGGATAACAGGATGAC -3'
Posted On 2022-10-06