Incidental Mutation 'R0107:Dennd4b'
ID 33311
Institutional Source Beutler Lab
Gene Symbol Dennd4b
Ensembl Gene ENSMUSG00000042404
Gene Name DENN domain containing 4B
Synonyms
MMRRC Submission 038393-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R0107 (G1)
Quality Score 211
Status Validated (trace)
Chromosome 3
Chromosomal Location 90172492-90187976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90180043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 663 (P663T)
Ref Sequence ENSEMBL: ENSMUSP00000117354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098914] [ENSMUST00000129564]
AlphaFold Q3U1Y4
Predicted Effect possibly damaging
Transcript: ENSMUST00000098914
AA Change: P674T

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: P674T

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 possibly damaging
Transcript: ENSMUST00000129564
AA Change: P663T

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: P663T

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 probably benign
Transcript: ENSMUST00000138376
SMART Domains Protein: ENSMUSP00000116003
Gene: ENSMUSG00000042404

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: 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183900
Meta Mutation Damage Score 0.1031 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,737 (GRCm39) L397I possibly damaging Het
Abca1 A G 4: 53,080,834 (GRCm39) V825A probably benign Het
Adamts7 T C 9: 90,062,773 (GRCm39) I409T possibly damaging Het
Adck1 T C 12: 88,413,426 (GRCm39) W253R possibly damaging Het
Afg3l2 A G 18: 67,564,836 (GRCm39) F213L probably damaging Het
Ankle2 T C 5: 110,400,893 (GRCm39) V743A probably benign Het
Ankrd34c C T 9: 89,611,537 (GRCm39) R268H probably benign Het
Arb2a A G 13: 78,050,933 (GRCm39) D145G probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc7b T G 8: 129,904,678 (GRCm39) probably benign Het
Cd320 A T 17: 34,067,059 (GRCm39) M169L probably benign Het
Chn1 A G 2: 73,445,028 (GRCm39) Y338H probably damaging Het
Chuk T A 19: 44,085,358 (GRCm39) S263C probably damaging Het
Dnajc24 T G 2: 105,832,259 (GRCm39) probably benign Het
Fbn2 A G 18: 58,189,275 (GRCm39) V1617A probably benign Het
Fermt2 T C 14: 45,702,279 (GRCm39) N502D probably damaging Het
Frrs1 A T 3: 116,690,365 (GRCm39) I3F probably damaging Het
Fut1 C A 7: 45,268,270 (GRCm39) Q20K possibly damaging Het
Gbf1 T C 19: 46,273,267 (GRCm39) V1709A probably benign Het
Gfra3 G T 18: 34,844,359 (GRCm39) H60Q probably benign Het
Gm10750 T A 2: 148,857,973 (GRCm39) M93L unknown Het
Hmcn1 T A 1: 150,462,766 (GRCm39) I5124L probably benign Het
Hps3 A C 3: 20,084,960 (GRCm39) L76R probably damaging Het
Ifrd1 T A 12: 40,264,080 (GRCm39) Q105L probably damaging Het
Irs2 A T 8: 11,054,691 (GRCm39) V1247E probably damaging Het
Itgal T C 7: 126,927,731 (GRCm39) probably benign Het
Ivns1abp A T 1: 151,237,321 (GRCm39) N495I probably damaging Het
Kank1 T A 19: 25,407,730 (GRCm39) probably benign Het
Mroh8 T C 2: 157,067,388 (GRCm39) Q657R probably benign Het
Mthfd1l T C 10: 3,991,838 (GRCm39) Y597H probably benign Het
Myom1 G A 17: 71,384,360 (GRCm39) V692I probably damaging Het
Or13a17 A T 7: 140,271,258 (GRCm39) M147L probably benign Het
Or1j18 T G 2: 36,624,730 (GRCm39) Y132* probably null Het
Or7g20 A G 9: 18,946,629 (GRCm39) D70G probably damaging Het
Palmd A T 3: 116,717,725 (GRCm39) H257Q probably damaging Het
Pcnx2 A T 8: 126,480,325 (GRCm39) V1994D probably benign Het
Phkb G A 8: 86,743,560 (GRCm39) G553S probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Ptprn A T 1: 75,232,356 (GRCm39) L453M probably damaging Het
Ptprz1 T A 6: 23,000,569 (GRCm39) D886E probably damaging Het
Rcn1 T A 2: 105,225,126 (GRCm39) I110F possibly damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Slc6a19 A G 13: 73,832,176 (GRCm39) Y467H possibly damaging Het
Slc9c1 T A 16: 45,395,783 (GRCm39) D611E probably benign Het
Slitrk6 T C 14: 110,989,395 (GRCm39) E104G possibly damaging Het
Spag17 A T 3: 99,958,103 (GRCm39) K920N possibly damaging Het
St3gal5 A G 6: 72,119,133 (GRCm39) S82G probably benign Het
Tlk1 T C 2: 70,544,333 (GRCm39) *767W probably null Het
Tln2 A G 9: 67,277,988 (GRCm39) V342A probably damaging Het
Tmem104 T A 11: 115,093,006 (GRCm39) M132K probably damaging Het
Tmem184c A G 8: 78,323,702 (GRCm39) S387P possibly damaging Het
Tmtc1 A G 6: 148,327,411 (GRCm39) V34A possibly damaging Het
Trim46 A G 3: 89,143,640 (GRCm39) F596S probably damaging Het
Unc79 T A 12: 103,100,784 (GRCm39) D1870E possibly damaging Het
Utp20 T C 10: 88,614,253 (GRCm39) T1234A probably benign Het
Vmn1r31 T A 6: 58,449,728 (GRCm39) T46S probably benign Het
Vps13a A T 19: 16,669,188 (GRCm39) L1341Q probably benign Het
Wdr72 A T 9: 74,117,715 (GRCm39) D821V probably damaging Het
Zfhx4 T C 3: 5,464,042 (GRCm39) L1400P probably damaging Het
Zfp217 T A 2: 169,956,794 (GRCm39) K735* probably null Het
Zfp235 A G 7: 23,836,541 (GRCm39) Q29R probably damaging Het
Zfp628 A G 7: 4,923,167 (GRCm39) Y463C probably damaging Het
Zkscan4 A G 13: 21,668,751 (GRCm39) T401A possibly 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
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
R2296:Dennd4b UTSW 3 90,182,821 (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'- TGACAGCATTGGCTGGAATCAGG -3'
(R):5'- AGCTAAGCGTTGGACATTGGGG -3'

Sequencing Primer
(F):5'- GTGCAGCCATACATGGTTC -3'
(R):5'- GCAGGATGATAGAAGACCCTCTTAC -3'
Posted On 2013-05-09