Incidental Mutation 'R8231:Dennd11'
ID 637140
Institutional Source Beutler Lab
Gene Symbol Dennd11
Ensembl Gene ENSMUSG00000037172
Gene Name DENN domain containing 11
Synonyms E330009J07Rik
MMRRC Submission 067663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R8231 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 40378309-40413069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40395546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 187 (H187Q)
Ref Sequence ENSEMBL: ENSMUSP00000099031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039008] [ENSMUST00000101492] [ENSMUST00000201712]
AlphaFold Q3UHG7
Predicted Effect probably benign
Transcript: ENSMUST00000039008
AA Change: H187Q

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045103
Gene: ENSMUSG00000037172
AA Change: H187Q

DomainStartEndE-ValueType
low complexity region 30 60 N/A INTRINSIC
Pfam:DUF2347 80 347 3.4e-79 PFAM
Pfam:SPA 234 345 5.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101492
AA Change: H187Q

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099031
Gene: ENSMUSG00000037172
AA Change: H187Q

DomainStartEndE-ValueType
low complexity region 30 60 N/A INTRINSIC
Pfam:DUF2347 80 347 3.2e-78 PFAM
Pfam:SPA 234 345 6.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201712
AA Change: H115Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143916
Gene: ENSMUSG00000037172
AA Change: H115Q

DomainStartEndE-ValueType
Pfam:DUF2347 15 133 1.4e-29 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C T 17: 85,000,213 (GRCm39) R258C probably damaging Het
Acsf2 C G 11: 94,452,188 (GRCm39) E451D probably benign Het
Adam34 A T 8: 44,104,659 (GRCm39) S329T probably benign Het
Adamts16 A G 13: 70,925,599 (GRCm39) I535T probably damaging Het
Atp6v0d2 A G 4: 19,881,451 (GRCm39) F214S probably damaging Het
Btg4 A G 9: 51,027,868 (GRCm39) T13A possibly damaging Het
Ccdc121 T A 5: 31,643,551 (GRCm39) C94S probably benign Het
Cplane1 T C 15: 8,248,511 (GRCm39) Y1687H probably benign Het
Csmd1 A T 8: 16,747,939 (GRCm39) S271T possibly damaging Het
Cul9 T C 17: 46,831,427 (GRCm39) T1596A probably damaging Het
Cyp2a4 G A 7: 26,012,362 (GRCm39) D382N probably benign Het
Dbh C T 2: 27,060,555 (GRCm39) R244C probably benign Het
Dnajc2 T C 5: 21,966,689 (GRCm39) K426R probably benign Het
Dock4 T A 12: 40,752,950 (GRCm39) M428K possibly damaging Het
Duox2 A T 2: 122,120,044 (GRCm39) M822K possibly damaging Het
Golga5 T C 12: 102,438,558 (GRCm39) V91A probably benign Het
Gpatch2l T C 12: 86,290,963 (GRCm39) S49P probably damaging Het
Ints7 T A 1: 191,328,465 (GRCm39) L246* probably null Het
Kntc1 A G 5: 123,920,959 (GRCm39) T926A possibly damaging Het
Kyat1 T C 2: 30,081,978 (GRCm39) T54A probably benign Het
Megf6 C G 4: 154,336,975 (GRCm39) C359W probably damaging Het
Mlh3 A G 12: 85,307,572 (GRCm39) probably null Het
Neb C A 2: 52,125,491 (GRCm39) probably null Het
Nyap2 A T 1: 81,169,846 (GRCm39) Q201L probably benign Het
Pibf1 T G 14: 99,423,997 (GRCm39) H523Q probably benign Het
Piezo1 A G 8: 123,232,836 (GRCm39) S133P Het
Pnma8b T C 7: 16,680,515 (GRCm39) C500R probably benign Het
Ptpra A G 2: 130,379,523 (GRCm39) N359S probably damaging Het
Rce1 A T 19: 4,675,078 (GRCm39) I112N probably damaging Het
Rmdn1 T C 4: 19,586,853 (GRCm39) Y104H probably benign Het
Snx22 A T 9: 65,975,480 (GRCm39) D96E probably benign Het
Sox5 G T 6: 143,974,014 (GRCm39) Q245K probably damaging Het
Stat6 A G 10: 127,482,842 (GRCm39) D21G possibly damaging Het
Tbc1d15 T C 10: 115,065,045 (GRCm39) Y180C probably damaging Het
Tdrd6 T C 17: 43,933,026 (GRCm39) T2058A probably damaging Het
Thbs4 A T 13: 92,911,352 (GRCm39) V277E probably benign Het
Tmem255b A G 8: 13,504,225 (GRCm39) D139G probably damaging Het
Ttc27 C A 17: 75,024,959 (GRCm39) T18K probably benign Het
Zfp131 A G 13: 120,237,348 (GRCm39) F337L probably damaging Het
Other mutations in Dennd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02813:Dennd11 APN 6 40,395,473 (GRCm39) missense probably benign 0.00
IGL03143:Dennd11 APN 6 40,399,828 (GRCm39) splice site probably benign
R1812:Dennd11 UTSW 6 40,386,365 (GRCm39) missense probably benign 0.02
R1928:Dennd11 UTSW 6 40,388,648 (GRCm39) missense probably benign 0.14
R2443:Dennd11 UTSW 6 40,383,710 (GRCm39) missense probably damaging 0.99
R3012:Dennd11 UTSW 6 40,412,926 (GRCm39) missense probably benign
R6913:Dennd11 UTSW 6 40,383,851 (GRCm39) missense possibly damaging 0.91
R7318:Dennd11 UTSW 6 40,386,098 (GRCm39) missense possibly damaging 0.72
R7456:Dennd11 UTSW 6 40,383,774 (GRCm39) missense probably benign 0.33
R8087:Dennd11 UTSW 6 40,395,526 (GRCm39) missense possibly damaging 0.94
R8776:Dennd11 UTSW 6 40,395,775 (GRCm39) intron probably benign
R8858:Dennd11 UTSW 6 40,399,669 (GRCm39) missense probably benign 0.02
Y4340:Dennd11 UTSW 6 40,412,992 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCATGAGGCTGAAGCATAATTTC -3'
(R):5'- CCGTTGAATTTCAGACCTTGTG -3'

Sequencing Primer
(F):5'- TGAGGCTGAAGCATAATTTCTTTATC -3'
(R):5'- AATTTCAGACCTTGTGTTTGAGC -3'
Posted On 2020-07-13