Incidental Mutation 'IGL02820:Dennd5b'
ID360975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd5b
Ensembl Gene ENSMUSG00000030313
Gene NameDENN/MADD domain containing 5B
Synonyms9330160C06Rik, D030011O10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL02820
Quality Score
Status
Chromosome6
Chromosomal Location148988071-149101680 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 149019342 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 851 (R851G)
Ref Sequence ENSEMBL: ENSMUSP00000107182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111557]
Predicted Effect probably null
Transcript: ENSMUST00000111557
AA Change: R851G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: R851G

DomainStartEndE-ValueType
uDENN 18 120 9.96e-39 SMART
low complexity region 145 161 N/A INTRINSIC
DENN 187 375 2.97e-78 SMART
dDENN 498 574 5.92e-23 SMART
RUN 866 929 2.13e-22 SMART
Pfam:PLAT 938 1043 1.7e-12 PFAM
low complexity region 1070 1081 N/A INTRINSIC
RUN 1205 1265 8.42e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150436
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,074,416 Y86C probably benign Het
Adgra2 G A 8: 27,117,507 V47M probably damaging Het
Anks1b T C 10: 90,077,059 C349R possibly damaging Het
Anks4b A T 7: 120,182,691 probably benign Het
Apobec2 A G 17: 48,423,267 S124P probably damaging Het
Brd8 G A 18: 34,607,301 S493L probably benign Het
Cbln3 A G 14: 55,883,487 Y126H probably damaging Het
Ccdc138 T C 10: 58,528,899 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ceacam2 T A 7: 25,519,986 H283L probably damaging Het
Clasp1 A G 1: 118,551,104 D718G possibly damaging Het
Clmn A T 12: 104,773,234 Y979N probably damaging Het
Ddias T C 7: 92,859,343 T455A probably benign Het
Dock1 T C 7: 135,167,215 V1771A probably benign Het
Dysf T A 6: 84,100,205 L694Q probably damaging Het
Faim2 T C 15: 99,521,257 Y77C probably benign Het
Fbxw22 A T 9: 109,386,664 I172N probably damaging Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Fyb T G 15: 6,658,559 V800G possibly damaging Het
Gcm1 T C 9: 78,064,562 F262L probably benign Het
Gm21983 T C 7: 27,180,180 M121V probably benign Het
Gm9996 A T 10: 29,143,661 probably benign Het
Gstm3 A T 3: 107,968,758 probably benign Het
Gsto2 G T 19: 47,874,959 E91D probably damaging Het
Hs6st3 G T 14: 119,139,080 M222I possibly damaging Het
Ighv3-6 T C 12: 114,288,230 D90G probably damaging Het
Itgb1bp1 C T 12: 21,276,853 A40T possibly damaging Het
Kcns3 C T 12: 11,091,871 E276K probably benign Het
Lamc3 C T 2: 31,923,022 R1007C probably damaging Het
Lnx2 A T 5: 147,042,067 M125K probably damaging Het
Lyst T A 13: 13,638,058 N1018K probably benign Het
Mctp2 T A 7: 72,245,542 S186C probably damaging Het
Mettl7a1 C A 15: 100,305,052 S51* probably null Het
Olfr352 A T 2: 36,869,859 T98S probably benign Het
Polg T C 7: 79,459,771 T433A possibly damaging Het
Rdh13 C T 7: 4,435,060 V127M probably damaging Het
Rdh16 A G 10: 127,813,601 T309A probably benign Het
Reep5 A T 18: 34,373,259 D21E probably benign Het
Rptn A T 3: 93,396,920 N520I probably benign Het
Rttn T C 18: 89,028,998 L928P probably damaging Het
Slc44a2 A G 9: 21,342,977 I212V probably benign Het
Snupn A G 9: 56,963,048 T71A probably benign Het
Ssu2 T C 6: 112,382,392 N89S probably benign Het
Thsd7a A G 6: 12,321,072 S1535P probably damaging Het
Uba7 A T 9: 107,981,516 S849C probably benign Het
Vmn2r80 A G 10: 79,171,605 T472A probably benign Het
Wdr6 A G 9: 108,578,544 I17T probably benign Het
Wdr66 A G 5: 123,254,636 probably benign Het
Xkr9 G A 1: 13,700,949 V230I probably benign Het
Other mutations in Dennd5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Dennd5b APN 6 149027330 missense probably damaging 1.00
IGL00590:Dennd5b APN 6 149068308 missense probably benign 0.03
IGL00727:Dennd5b APN 6 149006716 splice site probably benign
IGL00838:Dennd5b APN 6 149005363 splice site probably benign
IGL01115:Dennd5b APN 6 149009748 splice site probably benign
IGL01150:Dennd5b APN 6 149068085 missense probably benign 0.01
IGL01873:Dennd5b APN 6 149044529 missense probably benign
IGL01991:Dennd5b APN 6 149080824 missense probably damaging 1.00
IGL02226:Dennd5b APN 6 149033301 missense probably benign 0.00
IGL03056:Dennd5b APN 6 149055072 missense probably damaging 1.00
IGL03085:Dennd5b APN 6 149027395 missense probably damaging 1.00
IGL03329:Dennd5b APN 6 148998260 missense possibly damaging 0.53
R0081:Dennd5b UTSW 6 148993759 missense probably benign 0.13
R0617:Dennd5b UTSW 6 149033262 splice site probably benign
R1241:Dennd5b UTSW 6 149068490 missense probably benign 0.06
R1252:Dennd5b UTSW 6 149044487 missense probably damaging 1.00
R1255:Dennd5b UTSW 6 149041650 missense possibly damaging 0.48
R1641:Dennd5b UTSW 6 149068205 missense probably damaging 1.00
R1674:Dennd5b UTSW 6 148998284 missense probably damaging 1.00
R1781:Dennd5b UTSW 6 149027398 missense probably damaging 1.00
R1861:Dennd5b UTSW 6 149068262 missense probably damaging 1.00
R1907:Dennd5b UTSW 6 149041576 missense probably benign 0.00
R2412:Dennd5b UTSW 6 149005238 missense possibly damaging 0.88
R3794:Dennd5b UTSW 6 149101217 missense possibly damaging 0.87
R3825:Dennd5b UTSW 6 149044836 missense probably benign
R4581:Dennd5b UTSW 6 149016984 splice site silent
R4654:Dennd5b UTSW 6 149006837 missense probably damaging 1.00
R4725:Dennd5b UTSW 6 149044779 missense probably damaging 0.97
R4981:Dennd5b UTSW 6 149009772 missense possibly damaging 0.88
R4994:Dennd5b UTSW 6 149041500 intron probably null
R5400:Dennd5b UTSW 6 149000016 missense probably damaging 1.00
R5452:Dennd5b UTSW 6 149041513 splice site probably null
R5548:Dennd5b UTSW 6 149019349 synonymous probably null
R5841:Dennd5b UTSW 6 149044755 missense probably benign 0.11
R5996:Dennd5b UTSW 6 149068095 missense probably benign 0.22
R6082:Dennd5b UTSW 6 149068695 missense probably damaging 0.99
R6556:Dennd5b UTSW 6 149014251 splice site probably null
R6812:Dennd5b UTSW 6 149081132 start gained probably benign
R6828:Dennd5b UTSW 6 148993746 missense probably damaging 0.99
R7104:Dennd5b UTSW 6 149044604 missense probably damaging 1.00
R7231:Dennd5b UTSW 6 149044604 missense probably damaging 1.00
R7325:Dennd5b UTSW 6 149020570 missense probably benign 0.00
R7399:Dennd5b UTSW 6 149036483 missense probably damaging 1.00
R7516:Dennd5b UTSW 6 149068380 missense probably benign 0.02
R7751:Dennd5b UTSW 6 149017106 missense probably benign 0.01
R7763:Dennd5b UTSW 6 149068658 missense probably damaging 1.00
R7770:Dennd5b UTSW 6 149041716 missense probably damaging 0.99
R7788:Dennd5b UTSW 6 149068566 missense probably benign 0.00
Posted On2015-12-18