Incidental Mutation 'R1381:Dennd4c'
ID 162998
Institutional Source Beutler Lab
Gene Symbol Dennd4c
Ensembl Gene ENSMUSG00000038024
Gene Name DENN domain containing 4C
Synonyms 1700065A05Rik
MMRRC Submission 039443-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1381 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 86666792-86768840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86692769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 93 (R93K)
Ref Sequence ENSEMBL: ENSMUSP00000123367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045512] [ENSMUST00000082026] [ENSMUST00000142837]
AlphaFold A6H8H2
Predicted Effect probably benign
Transcript: ENSMUST00000045512
AA Change: R93K

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: R93K

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: R93K

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: R93K

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: ENSMUST00000128710
Predicted Effect probably benign
Transcript: ENSMUST00000142837
AA Change: R93K

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: R93K

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,561,430 (GRCm39) F252L probably benign Het
Aadac A T 3: 59,947,351 (GRCm39) M350L probably damaging Het
Agtrap G A 4: 148,168,422 (GRCm39) T19I probably damaging Het
Apba3 C T 10: 81,107,590 (GRCm39) T142M possibly damaging Het
Cd55b T A 1: 130,347,412 (GRCm39) K133I probably damaging Het
Cep295 A C 9: 15,233,861 (GRCm39) C2312G probably benign Het
Ces1a A G 8: 93,760,659 (GRCm39) V231A probably damaging Het
Chdh C A 14: 29,758,791 (GRCm39) L579I probably damaging Het
Cyb5r4 T A 9: 86,904,286 (GRCm39) S19T probably benign Het
Cyp2d22 C A 15: 82,256,709 (GRCm39) R355L probably benign Het
Dach2 T C X: 112,208,472 (GRCm39) Y117H probably damaging Het
Dph2 G T 4: 117,746,865 (GRCm39) L452I probably damaging Het
Exoc6b T C 6: 84,812,099 (GRCm39) D634G probably benign Het
Fam217b G A 2: 178,062,218 (GRCm39) V61I probably benign Het
Fbln7 A C 2: 128,719,299 (GRCm39) Q32P probably damaging Het
Fgfr1op2 A G 6: 146,490,239 (GRCm39) Y46C probably damaging Het
Fhod3 T A 18: 25,223,528 (GRCm39) I958N probably damaging Het
Foxp2 T A 6: 15,409,765 (GRCm39) M455K possibly damaging Het
Gabrr2 G A 4: 33,081,420 (GRCm39) G152D probably damaging Het
Galntl6 G T 8: 58,925,989 (GRCm39) P92Q probably damaging Het
Gm5592 A T 7: 40,935,596 (GRCm39) T33S probably benign Het
Grid2ip A T 5: 143,348,406 (GRCm39) T166S probably benign Het
Grsf1 G A 5: 88,813,723 (GRCm39) S225L probably benign Het
Hadha G T 5: 30,333,834 (GRCm39) T395K probably benign Het
Hars2 C T 18: 36,922,270 (GRCm39) A295V possibly damaging Het
Hsf5 T A 11: 87,528,995 (GRCm39) S577T probably benign Het
Ice2 A G 9: 69,307,809 (GRCm39) Y31C probably damaging Het
Ift80 A T 3: 68,822,116 (GRCm39) I643N possibly damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Ilvbl C A 10: 78,412,430 (GRCm39) S50R probably damaging Het
Invs C A 4: 48,421,942 (GRCm39) S858* probably null Het
Ipo13 T G 4: 117,761,592 (GRCm39) T508P probably damaging Het
Itgb4 T C 11: 115,885,163 (GRCm39) I1015T probably benign Het
Kank4 A T 4: 98,668,175 (GRCm39) W91R probably damaging Het
Kansl1l C T 1: 66,760,063 (GRCm39) A906T probably benign Het
Klk4 G A 7: 43,534,706 (GRCm39) V222M probably damaging Het
Lipo4 T A 19: 33,476,741 (GRCm39) M336L probably benign Het
Lrig1 T C 6: 94,583,111 (GRCm39) N1002D probably benign Het
Lzts3 A G 2: 130,477,219 (GRCm39) S524P probably damaging Het
Maz A T 7: 126,622,324 (GRCm39) C409* probably null Het
Mmp24 A T 2: 155,656,047 (GRCm39) Q495L possibly damaging Het
Mrgpra9 C T 7: 46,885,050 (GRCm39) V206I possibly damaging Het
Myof A G 19: 37,983,933 (GRCm39) Y124H probably damaging Het
Nalcn A T 14: 123,551,517 (GRCm39) V1030D probably damaging Het
Neb T A 2: 52,150,544 (GRCm39) I2495F probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nup153 T C 13: 46,842,657 (GRCm39) D837G probably damaging Het
Nup210 C A 6: 91,052,942 (GRCm39) G331V probably damaging Het
Or5b97 T C 19: 12,878,320 (GRCm39) T275A probably benign Het
Or5w18 T C 2: 87,633,480 (GRCm39) L245P probably damaging Het
Or6z7 A G 7: 6,484,008 (GRCm39) probably null Het
Or8b56 T A 9: 38,739,634 (GRCm39) S210T probably benign Het
Pabpc4 T A 4: 123,182,852 (GRCm39) L163H probably damaging Het
Pcdh7 T A 5: 57,878,882 (GRCm39) Y126* probably null Het
Pdzd2 A G 15: 12,385,525 (GRCm39) S1082P probably benign Het
Pkd2l1 T C 19: 44,138,902 (GRCm39) I649M probably benign Het
Plcl2 G A 17: 50,914,757 (GRCm39) E589K probably damaging Het
Plppr1 C A 4: 49,337,674 (GRCm39) T325N possibly damaging Het
Prss8 GCTGCCCAAGTCCC GC 7: 127,529,021 (GRCm39) probably benign Het
Ptcd2 A G 13: 99,481,105 (GRCm39) S25P probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rusc2 T A 4: 43,416,137 (GRCm39) V481E probably damaging Het
Sephs2 G T 7: 126,872,139 (GRCm39) T318K probably damaging Het
Sf3b1 T A 1: 55,042,313 (GRCm39) I497L probably damaging Het
Slc30a7 C T 3: 115,750,519 (GRCm39) probably null Het
Slc66a2 T G 18: 80,326,529 (GRCm39) S126A probably benign Het
Smarca2 T C 19: 26,608,228 (GRCm39) S96P probably damaging Het
Spata31d1c A C 13: 65,184,368 (GRCm39) I637L probably benign Het
Ston2 A T 12: 91,707,266 (GRCm39) S115T probably damaging Het
Tal2 A C 4: 53,785,999 (GRCm39) E60A probably benign Het
Tdpoz3 A T 3: 93,733,447 (GRCm39) T41S probably benign Het
Tent4b T A 8: 88,969,937 (GRCm39) M203K possibly damaging Het
Tespa1 T C 10: 130,196,560 (GRCm39) I166T probably benign Het
Thsd7a A T 6: 12,555,438 (GRCm39) C149S probably damaging Het
Trav6-1 T A 14: 52,875,967 (GRCm39) probably benign Het
Txnl4a T C 18: 80,250,479 (GRCm39) V25A probably benign Het
Utp4 C A 8: 107,632,908 (GRCm39) P297Q probably benign Het
Vmn1r34 T C 6: 66,613,922 (GRCm39) Y272C probably damaging Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Vmn2r121 C A X: 123,037,837 (GRCm39) G728W probably damaging Het
Vmn2r24 T A 6: 123,763,692 (GRCm39) S190T probably damaging Het
Zfp507 A G 7: 35,475,435 (GRCm39) V926A possibly 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
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
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'- AGCTCCAATCACAGACATTGCTGTTAT -3'
(R):5'- GGAATGCCCTTCCCTAAAGATGTTCAT -3'

Sequencing Primer
(F):5'- CAGCACTCCAAGCAAACTTG -3'
(R):5'- agcactgactcctctccc -3'
Posted On 2014-03-17