Incidental Mutation 'R2207:Dlg1'
ID 239185
Institutional Source Beutler Lab
Gene Symbol Dlg1
Ensembl Gene ENSMUSG00000022770
Gene Name discs large MAGUK scaffold protein 1
Synonyms B130052P05Rik, SAP97, Dlgh1
MMRRC Submission 040209-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2207 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 31482261-31692174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31672664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 599 (H599R)
Ref Sequence ENSEMBL: ENSMUSP00000110850 (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: H649R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: H649R

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: H704R

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: H704R

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: H682R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: H682R

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: H599R

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: H599R

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: H682R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: H682R

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: H682R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: H682R

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 noncoding transcript
Transcript: ENSMUST00000138213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155847
Predicted Effect probably benign
Transcript: ENSMUST00000130920
Predicted Effect probably benign
Transcript: ENSMUST00000132176
SMART Domains Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik A G 17: 37,288,965 (GRCm39) probably benign Het
Abcb1b C T 5: 8,874,803 (GRCm39) R488C probably benign Het
Adam34 T C 8: 44,105,274 (GRCm39) I124V probably benign Het
Aicda T A 6: 122,538,244 (GRCm39) V134D possibly damaging Het
Akt2 T A 7: 27,336,625 (GRCm39) probably null Het
Aldh1a3 T C 7: 66,055,769 (GRCm39) R341G probably damaging Het
Ankrd12 G T 17: 66,338,569 (GRCm39) probably null Het
Anxa11 A G 14: 25,874,721 (GRCm39) Y244C probably damaging Het
Atp2c2 G A 8: 120,475,048 (GRCm39) R551Q probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bcl11a G T 11: 24,113,343 (GRCm39) G229W probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
Cacna1h A T 17: 25,603,987 (GRCm39) S1282T probably benign Het
Calcr T C 6: 3,717,133 (GRCm39) Y109C probably damaging Het
Ccdc39 T C 3: 33,890,882 (GRCm39) I241V probably damaging Het
Ccdc9 A G 7: 16,018,194 (GRCm39) probably benign Het
Cdk17 G A 10: 93,064,624 (GRCm39) D298N probably damaging Het
Cdkl3 A G 11: 51,918,020 (GRCm39) *354W probably null Het
Celf6 A T 9: 59,511,610 (GRCm39) Y401F possibly damaging Het
Clec4a4 C T 6: 122,990,766 (GRCm39) L169F probably damaging Het
Col14a1 T C 15: 55,327,082 (GRCm39) F1411L unknown Het
Col4a2 G T 8: 11,493,352 (GRCm39) G1354W probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cst13 A T 2: 148,665,202 (GRCm39) R66W probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Dhx8 A G 11: 101,641,797 (GRCm39) T632A probably benign Het
Disp1 A G 1: 182,869,906 (GRCm39) F838S possibly damaging Het
Dnah12 T A 14: 26,503,744 (GRCm39) V1654E probably damaging Het
Dnah5 C T 15: 28,343,817 (GRCm39) L2406F probably benign Het
Fam98b C G 2: 117,098,300 (GRCm39) R257G probably damaging Het
Fbn2 A T 18: 58,214,471 (GRCm39) C900* probably null Het
Fgf1 A G 18: 38,980,138 (GRCm39) Y79H possibly damaging Het
Foxn1 C A 11: 78,249,630 (GRCm39) A632S probably benign Het
Fsip2 T G 2: 82,807,823 (GRCm39) S1381A probably benign Het
Gtf2b G A 3: 142,484,081 (GRCm39) G85D probably benign Het
Gyg1 C A 3: 20,204,703 (GRCm39) G161C probably damaging Het
Hemgn G T 4: 46,396,301 (GRCm39) L312I possibly damaging Het
Hic2 T C 16: 17,075,324 (GRCm39) M51T possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hpx C T 7: 105,241,633 (GRCm39) R287H probably damaging Het
Igf2bp3 C T 6: 49,065,488 (GRCm39) G468E possibly damaging Het
Il5ra C A 6: 106,689,402 (GRCm39) E397* probably null Het
Itfg1 A T 8: 86,502,827 (GRCm39) S246R probably benign Het
Kdm2a A T 19: 4,412,898 (GRCm39) D29E probably damaging Het
Lamc2 T G 1: 153,009,452 (GRCm39) E784D possibly damaging Het
Lrp2 A T 2: 69,297,372 (GRCm39) N3196K possibly damaging Het
Lyzl1 T A 18: 4,181,962 (GRCm39) C96* probably null Het
Maf1 A G 15: 76,236,718 (GRCm39) T17A probably benign Het
Map1b T C 13: 99,567,591 (GRCm39) D1710G unknown Het
Megf8 C T 7: 25,049,222 (GRCm39) T1773I probably damaging Het
Mei1 T C 15: 81,987,450 (GRCm39) M414T probably benign Het
Myo15a A G 11: 60,396,860 (GRCm39) N2643S probably benign Het
Ndufa9 A G 6: 126,821,772 (GRCm39) Y64H probably damaging Het
Neb A T 2: 52,101,579 (GRCm39) L4354* probably null Het
Nom1 T A 5: 29,644,972 (GRCm39) I480N probably damaging Het
Nrxn3 C T 12: 89,315,082 (GRCm39) T331M probably damaging Het
Or1a1 G T 11: 74,087,150 (GRCm39) V274L possibly damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or4f14b A C 2: 111,775,270 (GRCm39) F177C probably damaging Het
Or51a42 A G 7: 103,708,612 (GRCm39) S66P probably damaging Het
Pcdhb15 A T 18: 37,608,075 (GRCm39) T436S probably benign Het
Pcdhb18 T A 18: 37,624,342 (GRCm39) N557K probably damaging Het
Pcdhb6 T C 18: 37,468,633 (GRCm39) M518T probably benign Het
Pgm2l1 T A 7: 99,917,319 (GRCm39) probably null Het
Pih1d2 C A 9: 50,532,379 (GRCm39) H162N probably benign Het
Pitrm1 T A 13: 6,619,327 (GRCm39) Y721N probably damaging Het
Pla2r1 C A 2: 60,288,779 (GRCm39) V618F probably damaging Het
Plb1 T C 5: 32,473,984 (GRCm39) S599P possibly damaging Het
Prkg1 T C 19: 30,556,260 (GRCm39) D562G probably damaging Het
Proser1 T G 3: 53,385,812 (GRCm39) S565A probably benign Het
Prx T A 7: 27,216,213 (GRCm39) V238E probably damaging Het
Psapl1 T C 5: 36,362,509 (GRCm39) I367T probably damaging Het
Rc3h1 T C 1: 160,767,595 (GRCm39) V128A probably damaging Het
Rrm1 T A 7: 102,091,233 (GRCm39) M1K probably null Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsl1 A G 13: 67,330,892 (GRCm39) T447A probably benign Het
Ryr2 A G 13: 11,825,823 (GRCm39) S552P probably damaging Het
Sbf1 A G 15: 89,190,896 (GRCm39) S225P possibly damaging Het
Serpina3c T A 12: 104,117,757 (GRCm39) I194F probably benign Het
Setd3 C T 12: 108,073,544 (GRCm39) V578M probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc6a1 T A 6: 114,285,632 (GRCm39) V356E probably damaging Het
Slfn1 A G 11: 83,011,992 (GRCm39) E36G possibly damaging Het
Sorcs1 T C 19: 50,218,655 (GRCm39) H609R possibly damaging Het
Spag16 A G 1: 70,764,043 (GRCm39) H621R probably benign Het
Spata31d1e A G 13: 59,890,920 (GRCm39) V300A probably benign Het
Tg G A 15: 66,553,788 (GRCm39) G401D probably benign Het
Tnxb A C 17: 34,928,391 (GRCm39) T2602P possibly damaging Het
Trip11 T C 12: 101,839,701 (GRCm39) N1643S probably benign Het
Ttn G A 2: 76,709,687 (GRCm39) R1581* probably null Het
Ttn A T 2: 76,796,155 (GRCm39) I590K probably benign Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Wdr7 T A 18: 63,910,678 (GRCm39) V690E possibly damaging Het
Xaf1 A T 11: 72,194,228 (GRCm39) E36D possibly damaging Het
Zfp131 A T 13: 120,237,348 (GRCm39) F303I probably damaging Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Zfp788 A T 7: 41,299,064 (GRCm39) I567F probably damaging Het
Zfyve26 A G 12: 79,292,861 (GRCm39) V2096A 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
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
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'- CAAGCCATTTTCCTTTACTACAGG -3'
(R):5'- GGTGGTTACCCTTCTCAAGTC -3'

Sequencing Primer
(F):5'- TTACTACAGGTATTTTCTTGTGACAG -3'
(R):5'- GGTGGTTACCCTTCTCAAGTCTATTG -3'
Posted On 2014-10-02