Incidental Mutation 'R0103:Dennd4c'
ID 34456
Institutional Source Beutler Lab
Gene Symbol Dennd4c
Ensembl Gene ENSMUSG00000038024
Gene Name DENN domain containing 4C
Synonyms 1700065A05Rik
MMRRC Submission 038389-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0103 (G1)
Quality Score 205
Status Validated (trace)
Chromosome 4
Chromosomal Location 86666792-86768840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86730683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 860 (Y860C)
Ref Sequence ENSEMBL: ENSMUSP00000039860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045512] [ENSMUST00000082026] [ENSMUST00000142837]
AlphaFold A6H8H2
Predicted Effect probably benign
Transcript: ENSMUST00000045512
AA Change: Y860C

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: Y860C

DomainStartEndE-ValueType
internal_repeat_1 43 91 2.15e-5 PROSPERO
uDENN 168 275 3.96e-24 SMART
DENN 307 491 7.16e-72 SMART
dDENN 557 631 1.85e-24 SMART
low complexity region 983 1001 N/A INTRINSIC
low complexity region 1013 1025 N/A INTRINSIC
low complexity region 1045 1052 N/A INTRINSIC
low complexity region 1102 1113 N/A INTRINSIC
low complexity region 1175 1186 N/A INTRINSIC
low complexity region 1377 1392 N/A INTRINSIC
low complexity region 1472 1486 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000082026
AA Change: Y860C

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: Y860C

DomainStartEndE-ValueType
internal_repeat_1 43 91 3.19e-5 PROSPERO
uDENN 168 275 3.96e-24 SMART
DENN 307 491 7.16e-72 SMART
dDENN 557 631 1.85e-24 SMART
low complexity region 983 1001 N/A INTRINSIC
low complexity region 1013 1025 N/A INTRINSIC
low complexity region 1045 1052 N/A INTRINSIC
low complexity region 1102 1113 N/A INTRINSIC
low complexity region 1175 1186 N/A INTRINSIC
low complexity region 1377 1392 N/A INTRINSIC
low complexity region 1472 1486 N/A INTRINSIC
low complexity region 1724 1739 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142837
AA Change: Y860C

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: Y860C

DomainStartEndE-ValueType
internal_repeat_1 43 91 2.68e-5 PROSPERO
uDENN 168 275 3.96e-24 SMART
DENN 307 491 7.16e-72 SMART
dDENN 557 631 1.85e-24 SMART
low complexity region 934 952 N/A INTRINSIC
low complexity region 964 976 N/A INTRINSIC
low complexity region 996 1003 N/A INTRINSIC
low complexity region 1053 1064 N/A INTRINSIC
low complexity region 1126 1137 N/A INTRINSIC
low complexity region 1328 1343 N/A INTRINSIC
low complexity region 1423 1437 N/A INTRINSIC
low complexity region 1675 1690 N/A INTRINSIC
Meta Mutation Damage Score 0.1013 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,223,951 (GRCm39) R443S probably damaging Het
Anapc1 T C 2: 128,522,372 (GRCm39) probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arfgap3 A T 15: 83,206,922 (GRCm39) probably benign Het
Asah2 G T 19: 31,996,377 (GRCm39) H374N probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Ccdc106 C A 7: 5,060,544 (GRCm39) Q35K probably benign Het
Ccm2l G T 2: 152,909,839 (GRCm39) E64* probably null Het
Cep85l A T 10: 53,154,270 (GRCm39) D776E possibly damaging Het
Cfap52 T A 11: 67,815,951 (GRCm39) I611F possibly damaging Het
Cldn22 C T 8: 48,277,589 (GRCm39) T9M probably benign Het
Coa7 T C 4: 108,195,338 (GRCm39) L89P possibly damaging Het
Cox7a2l A T 17: 83,821,701 (GRCm39) Y2N probably damaging Het
Ctns A C 11: 73,076,137 (GRCm39) I299M probably damaging Het
Cyp27a1 A C 1: 74,775,074 (GRCm39) E301A probably benign Het
Cyp2b13 A T 7: 25,788,135 (GRCm39) K421M probably damaging Het
Cyp4f40 G T 17: 32,895,282 (GRCm39) C468F probably damaging Het
Cyp4f40 C A 17: 32,895,283 (GRCm39) C468* probably null Het
Dcun1d5 G A 9: 7,188,788 (GRCm39) C74Y probably damaging Het
Dgkz T C 2: 91,764,550 (GRCm39) T1028A probably benign Het
Dhx58 T C 11: 100,586,096 (GRCm39) T642A probably damaging Het
Dlg4 A G 11: 69,922,019 (GRCm39) Y87C probably damaging Het
Dnah6 C T 6: 73,069,155 (GRCm39) E2511K probably damaging Het
Entpd5 C A 12: 84,443,717 (GRCm39) E9* probably null Het
Fbln2 A C 6: 91,248,532 (GRCm39) I1066L probably benign Het
Fhl2 C T 1: 43,192,381 (GRCm39) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm39) I17K probably damaging Het
Galnt2l A G 8: 122,996,472 (GRCm39) probably benign Het
Gbp7 T A 3: 142,252,299 (GRCm39) N627K probably benign Het
Gnptab A G 10: 88,265,381 (GRCm39) Y331C probably damaging Het
Hdac4 T C 1: 91,903,366 (GRCm39) E521G possibly damaging Het
Hibadh T A 6: 52,534,862 (GRCm39) M173L probably benign Het
Iba57 C T 11: 59,054,439 (GRCm39) A27T probably benign Het
Itga1 T C 13: 115,152,790 (GRCm39) I211V probably benign Het
Keg1 A T 19: 12,696,280 (GRCm39) I155F possibly damaging Het
Krt84 T C 15: 101,438,671 (GRCm39) E272G probably damaging Het
Lrp2 C A 2: 69,307,384 (GRCm39) V2892L probably benign Het
Ltb A G 17: 35,414,016 (GRCm39) probably benign Het
Masp1 G A 16: 23,276,768 (GRCm39) P579L probably damaging Het
Mtor T A 4: 148,618,359 (GRCm39) M1724K probably benign Het
Myo3a T G 2: 22,436,360 (GRCm39) probably benign Het
Myo9b C T 8: 71,776,493 (GRCm39) probably benign Het
Ncor1 G T 11: 62,233,871 (GRCm39) Q444K possibly damaging Het
Nek7 A T 1: 138,471,980 (GRCm39) C53* probably null Het
Obscn G T 11: 58,953,522 (GRCm39) Y4044* probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh15 A T 10: 74,046,257 (GRCm39) D178V probably damaging Het
Pcsk6 T C 7: 65,578,845 (GRCm39) probably benign Het
Phxr4 T C 9: 13,343,087 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,593,583 (GRCm39) D1510V probably benign Het
Pkhd1l1 T C 15: 44,460,537 (GRCm39) C4249R probably benign Het
Plxnb2 A G 15: 89,045,972 (GRCm39) Y968H possibly damaging Het
Prpf39 T C 12: 65,102,057 (GRCm39) V378A possibly damaging Het
Psd2 A G 18: 36,137,770 (GRCm39) N455S probably damaging Het
Ptch2 C A 4: 116,966,622 (GRCm39) probably benign Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rad9b A T 5: 122,469,590 (GRCm39) V348E probably damaging Het
Rcor1 T C 12: 111,076,212 (GRCm39) probably benign Het
Rhoc A T 3: 104,699,307 (GRCm39) E32V possibly damaging Het
Rnf40 T G 7: 127,199,743 (GRCm39) V925G probably damaging Het
Rptor G T 11: 119,775,793 (GRCm39) R988L probably benign Het
Slc25a32 A T 15: 38,963,292 (GRCm39) Y176* probably null Het
Slc7a1 T A 5: 148,289,236 (GRCm39) K4* probably null Het
Ss18 A C 18: 14,812,478 (GRCm39) Y38D probably damaging Het
Syt4 T A 18: 31,580,273 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,304 (GRCm39) N305Y probably damaging Het
Taar7b A T 10: 23,876,192 (GRCm39) Y119F probably benign Het
Tcaf1 G T 6: 42,663,324 (GRCm39) D185E probably benign Het
Tmem138 T C 19: 10,552,316 (GRCm39) N62S possibly damaging Het
Tnfaip2 C T 12: 111,412,244 (GRCm39) T215M probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnfrsf25 C T 4: 152,201,405 (GRCm39) P65S possibly damaging Het
Trp53bp1 A T 2: 121,067,240 (GRCm39) S495R possibly damaging Het
Trpv3 T C 11: 73,184,805 (GRCm39) F597S probably damaging Het
Tsc22d4 A C 5: 137,745,378 (GRCm39) M1L possibly damaging Het
Ttc39a A G 4: 109,278,650 (GRCm39) probably null Het
Ttn T G 2: 76,591,570 (GRCm39) H21033P probably damaging Het
Ugt2a3 A G 5: 87,484,577 (GRCm39) V149A possibly damaging Het
Ush2a T G 1: 188,051,267 (GRCm39) I251R possibly damaging Het
Vamp4 T C 1: 162,417,108 (GRCm39) C114R possibly damaging Het
Wdr33 T C 18: 31,966,388 (GRCm39) V135A probably damaging Het
Zc3h13 T A 14: 75,567,908 (GRCm39) V1067E probably damaging Het
Zcwpw1 G A 5: 137,808,375 (GRCm39) W274* probably null Het
Zfp219 T A 14: 52,244,163 (GRCm39) H627L probably damaging Het
Other mutations in Dennd4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Dennd4c APN 4 86,723,724 (GRCm39) splice site probably benign
IGL01810:Dennd4c APN 4 86,717,788 (GRCm39) missense possibly damaging 0.94
IGL02203:Dennd4c APN 4 86,721,173 (GRCm39) missense probably benign 0.00
IGL02217:Dennd4c APN 4 86,732,036 (GRCm39) missense probably benign
IGL02236:Dennd4c APN 4 86,725,672 (GRCm39) missense possibly damaging 0.68
IGL02256:Dennd4c APN 4 86,717,778 (GRCm39) missense probably damaging 0.96
IGL02396:Dennd4c APN 4 86,743,237 (GRCm39) missense probably damaging 1.00
IGL02523:Dennd4c APN 4 86,692,490 (GRCm39) unclassified probably benign
IGL02615:Dennd4c APN 4 86,739,704 (GRCm39) missense probably benign 0.00
IGL03069:Dennd4c APN 4 86,692,674 (GRCm39) nonsense probably null
IGL03116:Dennd4c APN 4 86,707,057 (GRCm39) splice site probably benign
IGL03117:Dennd4c APN 4 86,696,140 (GRCm39) missense possibly damaging 0.95
IGL03273:Dennd4c APN 4 86,696,033 (GRCm39) missense probably damaging 1.00
IGL03329:Dennd4c APN 4 86,696,113 (GRCm39) missense probably damaging 1.00
IGL03365:Dennd4c APN 4 86,725,663 (GRCm39) critical splice acceptor site probably null
PIT4486001:Dennd4c UTSW 4 86,717,701 (GRCm39) nonsense probably null
R0010:Dennd4c UTSW 4 86,699,814 (GRCm39) missense probably damaging 1.00
R0032:Dennd4c UTSW 4 86,746,387 (GRCm39) critical splice donor site probably null
R0032:Dennd4c UTSW 4 86,746,387 (GRCm39) critical splice donor site probably null
R0092:Dennd4c UTSW 4 86,699,844 (GRCm39) missense probably damaging 1.00
R0103:Dennd4c UTSW 4 86,730,683 (GRCm39) missense probably benign 0.07
R0511:Dennd4c UTSW 4 86,744,259 (GRCm39) missense probably damaging 1.00
R0515:Dennd4c UTSW 4 86,731,703 (GRCm39) missense possibly damaging 0.94
R0578:Dennd4c UTSW 4 86,730,659 (GRCm39) missense probably damaging 1.00
R0759:Dennd4c UTSW 4 86,707,066 (GRCm39) missense probably damaging 1.00
R0784:Dennd4c UTSW 4 86,763,145 (GRCm39) missense probably benign 0.37
R1156:Dennd4c UTSW 4 86,725,703 (GRCm39) missense probably damaging 1.00
R1370:Dennd4c UTSW 4 86,729,747 (GRCm39) missense probably damaging 1.00
R1381:Dennd4c UTSW 4 86,692,769 (GRCm39) missense probably benign 0.24
R1569:Dennd4c UTSW 4 86,704,331 (GRCm39) missense possibly damaging 0.59
R1747:Dennd4c UTSW 4 86,725,675 (GRCm39) missense probably damaging 1.00
R1764:Dennd4c UTSW 4 86,721,247 (GRCm39) missense probably damaging 1.00
R1838:Dennd4c UTSW 4 86,743,415 (GRCm39) missense probably benign 0.00
R1997:Dennd4c UTSW 4 86,755,634 (GRCm39) missense probably benign
R2244:Dennd4c UTSW 4 86,692,780 (GRCm39) missense probably damaging 1.00
R2348:Dennd4c UTSW 4 86,729,764 (GRCm39) missense probably benign 0.04
R2968:Dennd4c UTSW 4 86,699,881 (GRCm39) missense possibly damaging 0.93
R3033:Dennd4c UTSW 4 86,743,557 (GRCm39) small deletion probably benign
R3401:Dennd4c UTSW 4 86,692,780 (GRCm39) missense probably damaging 1.00
R3402:Dennd4c UTSW 4 86,692,780 (GRCm39) missense probably damaging 1.00
R3403:Dennd4c UTSW 4 86,692,780 (GRCm39) missense probably damaging 1.00
R3855:Dennd4c UTSW 4 86,698,084 (GRCm39) missense probably damaging 1.00
R3939:Dennd4c UTSW 4 86,692,517 (GRCm39) missense probably damaging 1.00
R4164:Dennd4c UTSW 4 86,725,764 (GRCm39) missense probably benign 0.01
R4384:Dennd4c UTSW 4 86,729,687 (GRCm39) missense probably damaging 1.00
R4435:Dennd4c UTSW 4 86,716,312 (GRCm39) missense probably benign 0.44
R4788:Dennd4c UTSW 4 86,738,200 (GRCm39) missense probably benign 0.00
R4801:Dennd4c UTSW 4 86,738,121 (GRCm39) nonsense probably null
R4802:Dennd4c UTSW 4 86,738,121 (GRCm39) nonsense probably null
R4818:Dennd4c UTSW 4 86,743,511 (GRCm39) missense probably benign 0.00
R4923:Dennd4c UTSW 4 86,725,775 (GRCm39) missense probably damaging 1.00
R4958:Dennd4c UTSW 4 86,699,916 (GRCm39) missense probably damaging 1.00
R5025:Dennd4c UTSW 4 86,713,536 (GRCm39) critical splice donor site probably null
R5434:Dennd4c UTSW 4 86,729,693 (GRCm39) missense probably benign 0.10
R5662:Dennd4c UTSW 4 86,713,525 (GRCm39) missense probably benign 0.13
R5802:Dennd4c UTSW 4 86,729,690 (GRCm39) missense probably benign 0.02
R5849:Dennd4c UTSW 4 86,744,223 (GRCm39) missense possibly damaging 0.58
R5861:Dennd4c UTSW 4 86,709,589 (GRCm39) missense probably benign 0.30
R5970:Dennd4c UTSW 4 86,743,749 (GRCm39) missense probably damaging 1.00
R6163:Dennd4c UTSW 4 86,723,828 (GRCm39) missense possibly damaging 0.56
R6356:Dennd4c UTSW 4 86,743,686 (GRCm39) missense probably benign
R6661:Dennd4c UTSW 4 86,717,626 (GRCm39) missense possibly damaging 0.66
R6855:Dennd4c UTSW 4 86,754,694 (GRCm39) missense probably benign
R6983:Dennd4c UTSW 4 86,717,730 (GRCm39) missense probably damaging 1.00
R7035:Dennd4c UTSW 4 86,730,574 (GRCm39) missense probably damaging 1.00
R7126:Dennd4c UTSW 4 86,725,667 (GRCm39) missense probably damaging 1.00
R7185:Dennd4c UTSW 4 86,729,687 (GRCm39) missense probably damaging 1.00
R7212:Dennd4c UTSW 4 86,721,228 (GRCm39) missense probably damaging 1.00
R7324:Dennd4c UTSW 4 86,747,975 (GRCm39) missense unknown
R7329:Dennd4c UTSW 4 86,698,111 (GRCm39) missense possibly damaging 0.81
R7329:Dennd4c UTSW 4 86,759,318 (GRCm39) missense probably damaging 1.00
R7466:Dennd4c UTSW 4 86,692,568 (GRCm39) missense probably damaging 0.99
R7479:Dennd4c UTSW 4 86,717,590 (GRCm39) missense probably damaging 1.00
R7538:Dennd4c UTSW 4 86,692,753 (GRCm39) missense probably damaging 1.00
R7599:Dennd4c UTSW 4 86,729,849 (GRCm39) missense probably damaging 1.00
R7688:Dennd4c UTSW 4 86,713,377 (GRCm39) missense probably damaging 1.00
R7725:Dennd4c UTSW 4 86,704,330 (GRCm39) missense probably benign 0.00
R7751:Dennd4c UTSW 4 86,747,179 (GRCm39) missense probably benign 0.05
R7790:Dennd4c UTSW 4 86,717,754 (GRCm39) missense probably damaging 0.96
R8056:Dennd4c UTSW 4 86,763,213 (GRCm39) missense probably null 0.71
R8307:Dennd4c UTSW 4 86,744,109 (GRCm39) missense probably benign 0.12
R8494:Dennd4c UTSW 4 86,759,312 (GRCm39) missense probably damaging 1.00
R8531:Dennd4c UTSW 4 86,744,319 (GRCm39) critical splice donor site probably null
R9014:Dennd4c UTSW 4 86,754,666 (GRCm39) missense probably benign 0.00
R9014:Dennd4c UTSW 4 86,739,702 (GRCm39) missense probably benign 0.07
R9017:Dennd4c UTSW 4 86,743,349 (GRCm39) missense probably benign 0.33
R9142:Dennd4c UTSW 4 86,755,637 (GRCm39) missense probably benign 0.32
R9224:Dennd4c UTSW 4 86,738,170 (GRCm39) nonsense probably null
R9570:Dennd4c UTSW 4 86,747,208 (GRCm39) missense possibly damaging 0.71
R9644:Dennd4c UTSW 4 86,713,363 (GRCm39) missense probably damaging 0.99
R9649:Dennd4c UTSW 4 86,743,160 (GRCm39) missense probably benign 0.00
R9658:Dennd4c UTSW 4 86,754,625 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCTAACCACCCTGATTGAGTAGAACC -3'
(R):5'- TGACAAATatgtgaagaggactttgcacc -3'

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