Incidental Mutation 'R5556:Dennd4b'
ID 435372
Institutional Source Beutler Lab
Gene Symbol Dennd4b
Ensembl Gene ENSMUSG00000042404
Gene Name DENN domain containing 4B
Synonyms
MMRRC Submission 043113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R5556 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90172492-90187976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90175675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 148 (R148Q)
Ref Sequence ENSEMBL: ENSMUSP00000117354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029545] [ENSMUST00000098914] [ENSMUST00000129564] [ENSMUST00000184882]
AlphaFold Q3U1Y4
Predicted Effect probably benign
Transcript: ENSMUST00000029545
SMART Domains Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
Pfam:TORC_N 18 72 1.8e-20 PFAM
low complexity region 127 141 N/A INTRINSIC
Pfam:TORC_M 168 323 3.7e-71 PFAM
low complexity region 335 384 N/A INTRINSIC
low complexity region 391 416 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 484 494 N/A INTRINSIC
low complexity region 517 528 N/A INTRINSIC
Pfam:TORC_C 614 691 4.3e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098914
AA Change: R159Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: R159Q

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: R148Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: R148Q

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 noncoding transcript
Transcript: ENSMUST00000130002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149422
Predicted Effect unknown
Transcript: ENSMUST00000156358
AA Change: R139Q
SMART Domains Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404
AA Change: R139Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000184882
SMART Domains Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:TORC_M 83 239 6.5e-65 PFAM
low complexity region 250 299 N/A INTRINSIC
low complexity region 306 331 N/A INTRINSIC
low complexity region 347 354 N/A INTRINSIC
low complexity region 399 409 N/A INTRINSIC
low complexity region 432 443 N/A INTRINSIC
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
Meta Mutation Damage Score 0.1589 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Accs A G 2: 93,666,428 (GRCm39) Y420H probably damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cast A G 13: 74,844,008 (GRCm39) probably null Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Cherp C G 8: 73,221,824 (GRCm39) Q313H probably damaging Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Nsmaf C T 4: 6,398,621 (GRCm39) V828I probably benign Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Prtg T C 9: 72,758,986 (GRCm39) S447P probably damaging Het
Ptprr A G 10: 116,087,054 (GRCm39) Y267C probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Sh3d21 T C 4: 126,056,029 (GRCm39) N126D possibly damaging Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Usp3 G A 9: 66,451,303 (GRCm39) T153M possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G probably benign 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
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
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'- TGGCAGGTTTAGGAGACCAG -3'
(R):5'- AAATACCCTTTGTGCCGCC -3'

Sequencing Primer
(F):5'- AGCAGGATCCAAGACTCTTTCTATC -3'
(R):5'- ATACCCTTACACTAGTTCTTCAGG -3'
Posted On 2016-10-24