Incidental Mutation 'R0515:Dennd4c'
ID 48177
Institutional Source Beutler Lab
Gene Symbol Dennd4c
Ensembl Gene ENSMUSG00000038024
Gene Name DENN domain containing 4C
Synonyms 1700065A05Rik
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0515 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 86666792-86768840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86731703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 887 (V887A)
Ref Sequence ENSEMBL: ENSMUSP00000123367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045512] [ENSMUST00000082026] [ENSMUST00000142837]
AlphaFold A6H8H2
Predicted Effect possibly damaging
Transcript: ENSMUST00000045512
AA Change: V887A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: V887A

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 possibly damaging
Transcript: ENSMUST00000082026
AA Change: V887A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: V887A

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 noncoding transcript
Transcript: ENSMUST00000121575
Predicted Effect possibly damaging
Transcript: ENSMUST00000142837
AA Change: V887A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: V887A

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 0.1479 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign 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
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
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'- AGGGTTTTGGGGTATCAGGCATATACA -3'
(R):5'- CACATGCAGCATTCTGAGGAGCTA -3'

Sequencing Primer
(F):5'- gggtatcaggcatatacagagag -3'
(R):5'- TGAAAAGACCTGTGATTTTTGCC -3'
Posted On 2013-06-12