Incidental Mutation 'R1976:Dennd4b'
ID 221683
Institutional Source Beutler Lab
Gene Symbol Dennd4b
Ensembl Gene ENSMUSG00000042404
Gene Name DENN domain containing 4B
Synonyms
MMRRC Submission 039989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R1976 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90172492-90187976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90180362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 742 (T742S)
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: T753S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: T753S

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: T742S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: T742S

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: 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 noncoding transcript
Transcript: ENSMUST00000183900
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
Meta Mutation Damage Score 0.0637 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,347,815 (GRCm39) V3556A probably damaging Het
Abcb5 T C 12: 118,854,417 (GRCm39) I833V probably benign Het
Adgrd1 A T 5: 129,217,861 (GRCm39) H432L probably benign Het
Alppl2 T A 1: 87,016,463 (GRCm39) I204F probably damaging Het
Ascc3 T A 10: 50,525,262 (GRCm39) F486I probably damaging Het
Bcl9l T A 9: 44,417,449 (GRCm39) L429Q possibly damaging Het
Ccdc33 A T 9: 58,024,445 (GRCm39) Y227* probably null Het
Cd101 A G 3: 100,915,377 (GRCm39) V730A probably damaging Het
Cdadc1 A T 14: 59,811,217 (GRCm39) V431E probably damaging Het
Dazap1 T A 10: 80,110,454 (GRCm39) probably null Het
Dbpht2 T A 12: 74,342,635 (GRCm39) noncoding transcript Het
Dhtkd1 T C 2: 5,907,202 (GRCm39) E838G possibly damaging Het
Dync2h1 A T 9: 7,129,045 (GRCm39) D1823E probably benign Het
Enox1 T A 14: 77,906,233 (GRCm39) N556K probably benign Het
Fam227a T C 15: 79,510,477 (GRCm39) I392M possibly damaging Het
Fnip2 A T 3: 79,388,238 (GRCm39) M831K probably benign Het
Foxn1 T C 11: 78,256,763 (GRCm39) probably benign Het
Garre1 A C 7: 33,956,805 (GRCm39) N353K probably damaging Het
Glis3 T C 19: 28,240,077 (GRCm39) 936 probably benign Het
Gm4953 T A 1: 158,995,923 (GRCm39) noncoding transcript Het
Gsr T G 8: 34,170,288 (GRCm39) probably null Het
Habp4 G T 13: 64,332,420 (GRCm39) V344F probably benign Het
Hdac7 G A 15: 97,704,386 (GRCm39) Q495* probably null Het
Helb T C 10: 119,930,168 (GRCm39) D737G possibly damaging Het
Hltf A G 3: 20,160,610 (GRCm39) D759G probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itsn2 A G 12: 4,722,733 (GRCm39) probably benign Het
Kank2 A T 9: 21,705,857 (GRCm39) V387E probably damaging Het
Lefty1 T C 1: 180,765,389 (GRCm39) V319A probably benign Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Lpcat2b A T 5: 107,581,716 (GRCm39) K348N possibly damaging Het
Lsamp T C 16: 41,709,430 (GRCm39) V103A probably damaging Het
Ltbp4 A T 7: 27,026,195 (GRCm39) C538S probably damaging Het
Micu1 T C 10: 59,604,035 (GRCm39) S174P probably damaging Het
Mta1 A G 12: 113,099,926 (GRCm39) N607S probably damaging Het
Muc5b C T 7: 141,416,891 (GRCm39) S3279L probably benign Het
Naalad2 T C 9: 18,289,995 (GRCm39) E211G probably damaging Het
Nup155 T A 15: 8,165,311 (GRCm39) M649K probably benign Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Pisd A G 5: 32,896,209 (GRCm39) V372A probably damaging Het
Prim1 T A 10: 127,859,668 (GRCm39) C288S probably benign Het
Rab23 T A 1: 33,763,019 (GRCm39) C30S probably damaging Het
Sacs A G 14: 61,440,344 (GRCm39) T797A probably benign Het
Sall3 T C 18: 81,015,108 (GRCm39) D940G probably benign Het
Scn1a T C 2: 66,161,615 (GRCm39) E311G probably benign Het
Sdk1 T A 5: 142,129,573 (GRCm39) I1598N probably damaging Het
Slc22a17 A T 14: 55,145,957 (GRCm39) probably null Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Sprr3 T A 3: 92,364,253 (GRCm39) Q197L possibly damaging Het
Stab2 A C 10: 86,732,360 (GRCm39) probably null Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tas2r123 T A 6: 132,824,295 (GRCm39) V64D probably damaging Het
Trhde T G 10: 114,424,336 (GRCm39) N483T possibly damaging Het
Trp53 C T 11: 69,479,323 (GRCm39) T167M probably damaging Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Tut4 T C 4: 108,336,720 (GRCm39) L148P probably benign Het
Usp17la A G 7: 104,509,527 (GRCm39) E44G possibly damaging Het
Usp40 T G 1: 87,906,258 (GRCm39) Q659P probably benign Het
Vmn1r4 T C 6: 56,933,723 (GRCm39) C76R probably damaging Het
Vmn2r118 C T 17: 55,899,925 (GRCm39) G660R probably damaging Het
Zfp786 T A 6: 47,796,691 (GRCm39) H749L 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
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'- TCCAACGCTTAGCTCTGTGC -3'
(R):5'- CAGAGGCTAATGTTTGTACAGC -3'

Sequencing Primer
(F):5'- TGCTAACTGTCTGCACGG -3'
(R):5'- GAACTCACTCTGTAGATCAGGCTG -3'
Posted On 2014-08-25