Incidental Mutation 'R7446:Dennd1a'
ID 577270
Institutional Source Beutler Lab
Gene Symbol Dennd1a
Ensembl Gene ENSMUSG00000035392
Gene Name DENN domain containing 1A
Synonyms 6030446I19Rik
MMRRC Submission 045522-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R7446 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 37689003-38177402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37706991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 505 (V505D)
Ref Sequence ENSEMBL: ENSMUSP00000099848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102787] [ENSMUST00000136460] [ENSMUST00000140552]
AlphaFold Q8K382
Predicted Effect possibly damaging
Transcript: ENSMUST00000102787
AA Change: V505D

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: V505D

DomainStartEndE-ValueType
uDENN 9 91 1.44e-26 SMART
DENN 92 273 2.09e-73 SMART
dDENN 304 371 1.37e-18 SMART
low complexity region 497 508 N/A INTRINSIC
low complexity region 689 702 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 772 786 N/A INTRINSIC
low complexity region 801 815 N/A INTRINSIC
low complexity region 822 856 N/A INTRINSIC
low complexity region 952 972 N/A INTRINSIC
low complexity region 991 1004 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136460
AA Change: V68D

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115527
Gene: ENSMUSG00000035392
AA Change: V68D

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
low complexity region 102 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140552
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,950,441 (GRCm39) D1446G probably benign Het
Adgrg1 A G 8: 95,738,412 (GRCm39) Y635C probably damaging Het
Akr1cl G A 1: 65,055,837 (GRCm39) R222W probably damaging Het
C2 G A 17: 35,094,986 (GRCm39) R250C probably damaging Het
Cdk15 A G 1: 59,328,854 (GRCm39) Y254C probably damaging Het
Celsr1 T C 15: 85,791,874 (GRCm39) T2576A possibly damaging Het
Cfap61 C T 2: 145,995,758 (GRCm39) R1108C probably benign Het
Clca3a1 A G 3: 144,733,188 (GRCm39) S107P possibly damaging Het
Cplane1 A G 15: 8,261,564 (GRCm39) D2460G probably damaging Het
Cpsf1 A G 15: 76,485,950 (GRCm39) S407P probably benign Het
Crisp4 T C 1: 18,192,962 (GRCm39) T252A probably damaging Het
Ctbs A G 3: 146,164,573 (GRCm39) Y242C probably damaging Het
Cul4a A G 8: 13,186,874 (GRCm39) T537A probably benign Het
D930020B18Rik T C 10: 121,503,650 (GRCm39) I275T possibly damaging Het
Dcaf7 T C 11: 105,944,561 (GRCm39) V248A probably benign Het
Def8 T C 8: 124,181,061 (GRCm39) C153R probably damaging Het
Dpysl5 A C 5: 30,936,231 (GRCm39) D207A probably benign Het
Dync2h1 A T 9: 7,041,720 (GRCm39) S3307R probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Erf A T 7: 24,945,556 (GRCm39) C72S probably damaging Het
Fastkd3 A T 13: 68,740,079 (GRCm39) H47L unknown Het
Gm5591 C T 7: 38,218,933 (GRCm39) E647K probably benign Het
Gng12 TGTCCAGCAAG TG 6: 66,992,736 (GRCm39) probably benign Het
Guk1 T C 11: 59,076,850 (GRCm39) T78A probably benign Het
Hephl1 T C 9: 15,009,347 (GRCm39) T82A probably damaging Het
Htra4 A G 8: 25,527,181 (GRCm39) S205P probably benign Het
Jakmip2 T C 18: 43,710,390 (GRCm39) D271G probably damaging Het
Krt16 CAGTATCTG C 11: 100,137,610 (GRCm39) probably null Het
Lrp1b T A 2: 41,561,069 (GRCm39) E286V Het
Lrp2 C A 2: 69,262,557 (GRCm39) G4415W probably damaging Het
Lrp2 C T 2: 69,290,018 (GRCm39) R3607H probably damaging Het
Mcph1 A G 8: 18,721,109 (GRCm39) K646E probably benign Het
Mgam T C 6: 40,723,266 (GRCm39) L457P probably damaging Het
Mink1 T A 11: 70,500,455 (GRCm39) S802T probably benign Het
Mrgprb5 C T 7: 47,818,252 (GRCm39) G161E possibly damaging Het
Mroh1 G A 15: 76,336,472 (GRCm39) G1565D possibly damaging Het
Mynn A G 3: 30,661,201 (GRCm39) K51R probably benign Het
Myo1b A G 1: 51,803,065 (GRCm39) F872S possibly damaging Het
Nbas A T 12: 13,443,499 (GRCm39) T1185S probably benign Het
Oas1d A T 5: 121,058,054 (GRCm39) I333L probably benign Het
Or10ak9 A T 4: 118,726,019 (GRCm39) I14F possibly damaging Het
Or4d10 A G 19: 12,051,061 (GRCm39) *312Q probably null Het
P2ry12 A G 3: 59,124,632 (GRCm39) *348Q probably null Het
Pik3cb A T 9: 98,928,711 (GRCm39) V848E probably damaging Het
Plcz1 A C 6: 139,959,312 (GRCm39) S282A possibly damaging Het
Prss46 A G 9: 110,679,189 (GRCm39) D130G probably damaging Het
Pygl T C 12: 70,243,784 (GRCm39) I644V probably benign Het
Ralgds T A 2: 28,435,901 (GRCm39) S509T probably damaging Het
Rdh16f2 A G 10: 127,712,767 (GRCm39) D255G probably benign Het
Scaf4 T C 16: 90,055,658 (GRCm39) D133G unknown Het
Sdk1 G A 5: 142,130,731 (GRCm39) S1630N probably damaging Het
Sema5b C T 16: 35,467,573 (GRCm39) T279I probably damaging Het
Slc24a3 T A 2: 145,422,902 (GRCm39) L207H probably damaging Het
Speer2 A T 16: 69,654,965 (GRCm39) S167T possibly damaging Het
Spock1 A G 13: 57,583,898 (GRCm39) I339T unknown Het
Srsf6 T A 2: 162,776,636 (GRCm39) S327T unknown Het
Syne1 T A 10: 5,172,266 (GRCm39) E5058D probably benign Het
Tcf19 A G 17: 35,825,428 (GRCm39) V243A probably benign Het
Tspan15 T C 10: 62,029,734 (GRCm39) D122G probably benign Het
Ttc17 C T 2: 94,205,495 (GRCm39) V284M probably damaging Het
Usp29 A C 7: 6,964,219 (GRCm39) T21P possibly damaging Het
Uspl1 T A 5: 149,141,082 (GRCm39) C360* probably null Het
Vmn1r181 A C 7: 23,684,356 (GRCm39) S274R probably benign Het
Xrcc5 T C 1: 72,433,132 (GRCm39) probably null Het
Zfp277 C T 12: 40,378,729 (GRCm39) R376H probably damaging Het
Zfp629 T C 7: 127,210,201 (GRCm39) E536G probably benign Het
Other mutations in Dennd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Dennd1a APN 2 38,133,454 (GRCm39) nonsense probably null
IGL00490:Dennd1a APN 2 37,691,164 (GRCm39) missense probably damaging 1.00
IGL00839:Dennd1a APN 2 37,706,994 (GRCm39) missense probably benign 0.30
IGL01065:Dennd1a APN 2 37,734,917 (GRCm39) missense probably benign 0.02
IGL01621:Dennd1a APN 2 37,734,821 (GRCm39) missense probably damaging 1.00
IGL01792:Dennd1a APN 2 38,016,592 (GRCm39) missense probably damaging 1.00
IGL01799:Dennd1a APN 2 37,938,754 (GRCm39) missense probably damaging 1.00
IGL02516:Dennd1a APN 2 37,742,406 (GRCm39) critical splice donor site probably null
contract UTSW 2 37,742,453 (GRCm39) missense possibly damaging 0.89
R0018:Dennd1a UTSW 2 37,748,472 (GRCm39) missense possibly damaging 0.72
R0018:Dennd1a UTSW 2 37,748,472 (GRCm39) missense possibly damaging 0.72
R0144:Dennd1a UTSW 2 38,016,652 (GRCm39) missense probably damaging 0.96
R0784:Dennd1a UTSW 2 37,911,426 (GRCm39) missense probably damaging 1.00
R1199:Dennd1a UTSW 2 37,851,728 (GRCm39) missense probably damaging 0.99
R1439:Dennd1a UTSW 2 37,933,412 (GRCm39) missense probably damaging 1.00
R1563:Dennd1a UTSW 2 37,748,441 (GRCm39) missense probably damaging 1.00
R1608:Dennd1a UTSW 2 37,742,446 (GRCm39) missense probably benign 0.18
R1720:Dennd1a UTSW 2 37,690,209 (GRCm39) nonsense probably null
R1967:Dennd1a UTSW 2 37,734,845 (GRCm39) missense probably benign
R2570:Dennd1a UTSW 2 37,734,795 (GRCm39) missense probably damaging 1.00
R3886:Dennd1a UTSW 2 37,748,089 (GRCm39) missense possibly damaging 0.89
R4464:Dennd1a UTSW 2 38,133,402 (GRCm39) splice site probably benign
R4890:Dennd1a UTSW 2 38,066,238 (GRCm39) intron probably benign
R5395:Dennd1a UTSW 2 37,692,140 (GRCm39) missense probably damaging 1.00
R5652:Dennd1a UTSW 2 37,691,138 (GRCm39) missense probably benign 0.00
R5882:Dennd1a UTSW 2 37,851,675 (GRCm39) missense probably damaging 1.00
R6285:Dennd1a UTSW 2 37,742,453 (GRCm39) missense possibly damaging 0.89
R6520:Dennd1a UTSW 2 37,851,759 (GRCm39) splice site probably null
R6934:Dennd1a UTSW 2 37,691,225 (GRCm39) missense possibly damaging 0.62
R7053:Dennd1a UTSW 2 37,851,666 (GRCm39) missense probably damaging 1.00
R7109:Dennd1a UTSW 2 37,938,804 (GRCm39) missense probably damaging 1.00
R7204:Dennd1a UTSW 2 37,929,215 (GRCm39) missense probably damaging 1.00
R7235:Dennd1a UTSW 2 37,691,073 (GRCm39) missense probably benign
R7408:Dennd1a UTSW 2 37,742,184 (GRCm39) splice site probably null
R7579:Dennd1a UTSW 2 37,748,444 (GRCm39) missense probably damaging 0.99
R7645:Dennd1a UTSW 2 37,911,375 (GRCm39) missense probably damaging 1.00
R7661:Dennd1a UTSW 2 37,734,841 (GRCm39) missense probably benign
R8132:Dennd1a UTSW 2 37,748,072 (GRCm39) missense probably damaging 1.00
R8305:Dennd1a UTSW 2 37,748,093 (GRCm39) missense probably damaging 1.00
R8369:Dennd1a UTSW 2 37,938,766 (GRCm39) missense probably damaging 1.00
R8418:Dennd1a UTSW 2 37,748,403 (GRCm39) missense probably benign 0.36
R8438:Dennd1a UTSW 2 37,746,150 (GRCm39) missense probably benign 0.08
R8544:Dennd1a UTSW 2 37,872,920 (GRCm39) splice site probably null
R8997:Dennd1a UTSW 2 37,690,497 (GRCm39) missense probably benign 0.14
R9052:Dennd1a UTSW 2 37,911,463 (GRCm39) missense probably damaging 1.00
R9087:Dennd1a UTSW 2 37,911,366 (GRCm39) critical splice donor site probably null
R9096:Dennd1a UTSW 2 37,690,077 (GRCm39) missense probably damaging 1.00
R9346:Dennd1a UTSW 2 37,911,447 (GRCm39) missense probably benign 0.12
Z1088:Dennd1a UTSW 2 37,690,704 (GRCm39) missense probably benign
Z1177:Dennd1a UTSW 2 37,690,269 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAATGACCAAGTTCCCTG -3'
(R):5'- GGTGGTGTTTACGTAATAACCAGG -3'

Sequencing Primer
(F):5'- CCTGCTCAGCATTTCAAAGGAG -3'
(R):5'- GTGTTTACGTAATAACCAGGAGACC -3'
Posted On 2019-10-07