Incidental Mutation 'R2296:Dennd4b'
ID 245171
Institutional Source Beutler Lab
Gene Symbol Dennd4b
Ensembl Gene ENSMUSG00000042404
Gene Name DENN domain containing 4B
Synonyms
MMRRC Submission 040295-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R2296 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90172492-90187976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90182821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 879 (N879K)
Ref Sequence ENSEMBL: ENSMUSP00000117354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098914] [ENSMUST00000129564]
AlphaFold Q3U1Y4
Predicted Effect probably damaging
Transcript: ENSMUST00000098914
AA Change: N890K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: N890K

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
uDENN 183 290 1.15e-29 SMART
DENN 324 508 5.26e-70 SMART
dDENN 573 647 1.75e-25 SMART
low complexity region 672 690 N/A INTRINSIC
low complexity region 740 752 N/A INTRINSIC
coiled coil region 902 928 N/A INTRINSIC
low complexity region 1022 1038 N/A INTRINSIC
low complexity region 1086 1096 N/A INTRINSIC
low complexity region 1114 1127 N/A INTRINSIC
low complexity region 1131 1148 N/A INTRINSIC
low complexity region 1338 1350 N/A INTRINSIC
low complexity region 1424 1439 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129564
AA Change: N879K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: N879K

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
uDENN 172 279 1.15e-29 SMART
DENN 313 497 5.26e-70 SMART
dDENN 562 636 1.75e-25 SMART
low complexity region 661 679 N/A INTRINSIC
low complexity region 729 741 N/A INTRINSIC
coiled coil region 891 917 N/A INTRINSIC
low complexity region 1011 1027 N/A INTRINSIC
low complexity region 1075 1085 N/A INTRINSIC
low complexity region 1103 1116 N/A INTRINSIC
low complexity region 1120 1137 N/A INTRINSIC
low complexity region 1327 1339 N/A INTRINSIC
low complexity region 1413 1428 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000138376
AA Change: N17K
SMART Domains Protein: ENSMUSP00000116003
Gene: ENSMUSG00000042404
AA Change: N17K

DomainStartEndE-ValueType
coiled coil region 29 55 N/A INTRINSIC
low complexity region 148 164 N/A INTRINSIC
low complexity region 212 222 N/A INTRINSIC
low complexity region 240 253 N/A INTRINSIC
low complexity region 257 264 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143803
Predicted Effect probably benign
Transcript: ENSMUST00000151648
SMART Domains Protein: ENSMUSP00000121350
Gene: ENSMUSG00000042404

DomainStartEndE-ValueType
uDENN 2 57 3.71e-6 SMART
Pfam:DENN 91 157 2.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156358
SMART Domains Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404

DomainStartEndE-ValueType
low complexity region 24 38 N/A INTRINSIC
Blast:uDENN 39 97 9e-6 BLAST
Blast:uDENN 164 207 1e-22 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A G 1: 11,582,275 (GRCm39) E68G possibly damaging Het
Apob A G 12: 8,044,879 (GRCm39) D820G probably damaging Het
Bglap3 G C 3: 88,276,819 (GRCm39) probably benign Het
Calr3 C T 8: 73,178,469 (GRCm39) probably benign Het
Carmil1 A G 13: 24,299,492 (GRCm39) L344P probably damaging Het
Cop1 G A 1: 159,072,220 (GRCm39) V109M possibly damaging Het
Fam13b T C 18: 34,627,814 (GRCm39) D129G possibly damaging Het
Fam222a C A 5: 114,749,027 (GRCm39) H74Q possibly damaging Het
Gata5 A G 2: 179,970,113 (GRCm39) M278T possibly damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Iigp1c T A 18: 60,378,542 (GRCm39) C26S probably benign Het
Inpp5k T G 11: 75,530,313 (GRCm39) L251R probably damaging Het
Lrrc36 T G 8: 106,187,651 (GRCm39) D522E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nras T A 3: 102,966,350 (GRCm39) probably null Het
Nudt12 A G 17: 59,317,044 (GRCm39) V201A possibly damaging Het
Phf2 T C 13: 48,988,754 (GRCm39) E39G unknown Het
Serpinb3a A T 1: 106,975,291 (GRCm39) V172D probably damaging Het
Stab2 T A 10: 86,790,338 (GRCm39) probably null Het
Trim3 A G 7: 105,262,481 (GRCm39) I559T probably damaging Het
Trp53bp1 A T 2: 121,039,728 (GRCm39) S1304T possibly damaging Het
Xrcc5 A T 1: 72,385,485 (GRCm39) K525N probably benign Het
Zfp110 T A 7: 12,583,467 (GRCm39) V705D probably damaging Het
Other mutations in Dennd4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Dennd4b APN 3 90,178,514 (GRCm39) missense possibly damaging 0.83
IGL00834:Dennd4b APN 3 90,186,993 (GRCm39) critical splice donor site probably null
IGL01124:Dennd4b APN 3 90,176,381 (GRCm39) missense possibly damaging 0.61
IGL01792:Dennd4b APN 3 90,187,152 (GRCm39) missense probably damaging 0.96
IGL01895:Dennd4b APN 3 90,182,874 (GRCm39) missense probably benign 0.00
IGL02533:Dennd4b APN 3 90,179,617 (GRCm39) missense probably benign 0.02
IGL02630:Dennd4b APN 3 90,180,284 (GRCm39) missense probably benign 0.00
R0107:Dennd4b UTSW 3 90,180,043 (GRCm39) missense possibly damaging 0.92
R0143:Dennd4b UTSW 3 90,179,671 (GRCm39) missense probably damaging 1.00
R1079:Dennd4b UTSW 3 90,178,485 (GRCm39) missense probably benign
R1306:Dennd4b UTSW 3 90,178,472 (GRCm39) missense probably benign 0.00
R1525:Dennd4b UTSW 3 90,178,177 (GRCm39) missense probably damaging 0.97
R1756:Dennd4b UTSW 3 90,178,912 (GRCm39) missense probably damaging 1.00
R1959:Dennd4b UTSW 3 90,176,080 (GRCm39) missense probably damaging 1.00
R1976:Dennd4b UTSW 3 90,180,362 (GRCm39) missense probably damaging 1.00
R2184:Dennd4b UTSW 3 90,182,847 (GRCm39) missense probably damaging 1.00
R2406:Dennd4b UTSW 3 90,182,795 (GRCm39) missense probably damaging 1.00
R2408:Dennd4b UTSW 3 90,178,882 (GRCm39) nonsense probably null
R4691:Dennd4b UTSW 3 90,179,619 (GRCm39) missense probably damaging 1.00
R5376:Dennd4b UTSW 3 90,185,363 (GRCm39) missense probably benign 0.00
R5466:Dennd4b UTSW 3 90,175,807 (GRCm39) splice site probably null
R5555:Dennd4b UTSW 3 90,175,675 (GRCm39) missense probably damaging 1.00
R5556:Dennd4b UTSW 3 90,175,675 (GRCm39) missense probably damaging 1.00
R5557:Dennd4b UTSW 3 90,175,675 (GRCm39) missense probably damaging 1.00
R5605:Dennd4b UTSW 3 90,175,675 (GRCm39) missense probably damaging 1.00
R5617:Dennd4b UTSW 3 90,182,933 (GRCm39) missense probably benign
R5692:Dennd4b UTSW 3 90,185,090 (GRCm39) missense probably damaging 1.00
R5790:Dennd4b UTSW 3 90,184,757 (GRCm39) missense probably damaging 1.00
R5957:Dennd4b UTSW 3 90,178,272 (GRCm39) missense probably damaging 1.00
R6130:Dennd4b UTSW 3 90,183,566 (GRCm39) missense probably damaging 1.00
R6183:Dennd4b UTSW 3 90,182,875 (GRCm39) utr 3 prime probably benign
R6505:Dennd4b UTSW 3 90,174,918 (GRCm39) missense probably damaging 1.00
R6631:Dennd4b UTSW 3 90,185,039 (GRCm39) splice site probably null
R6801:Dennd4b UTSW 3 90,176,086 (GRCm39) missense probably damaging 0.98
R7409:Dennd4b UTSW 3 90,181,259 (GRCm39) missense probably benign 0.15
R7457:Dennd4b UTSW 3 90,176,622 (GRCm39) missense probably benign
R7650:Dennd4b UTSW 3 90,176,056 (GRCm39) nonsense probably null
R8196:Dennd4b UTSW 3 90,178,904 (GRCm39) missense probably damaging 1.00
R8208:Dennd4b UTSW 3 90,178,278 (GRCm39) missense possibly damaging 0.78
R8444:Dennd4b UTSW 3 90,181,259 (GRCm39) missense probably benign 0.27
R8502:Dennd4b UTSW 3 90,181,165 (GRCm39) missense probably damaging 0.98
R8735:Dennd4b UTSW 3 90,185,172 (GRCm39) missense probably damaging 1.00
R8933:Dennd4b UTSW 3 90,186,523 (GRCm39) missense probably benign 0.05
R9031:Dennd4b UTSW 3 90,178,188 (GRCm39) missense probably benign
R9335:Dennd4b UTSW 3 90,175,611 (GRCm39) missense probably damaging 1.00
R9456:Dennd4b UTSW 3 90,178,515 (GRCm39) missense probably damaging 1.00
R9747:Dennd4b UTSW 3 90,177,828 (GRCm39) missense possibly damaging 0.76
X0024:Dennd4b UTSW 3 90,178,278 (GRCm39) missense possibly damaging 0.78
Z1176:Dennd4b UTSW 3 90,186,802 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTCAGACAGTCCTAGACAGC -3'
(R):5'- GAAAGGCCCCTACAGTTTCC -3'

Sequencing Primer
(F):5'- CAAGTCTGCAGAAAAAGGTGGCC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2014-10-30