Incidental Mutation 'R7035:Dennd4c'
ID 546591
Institutional Source Beutler Lab
Gene Symbol Dennd4c
Ensembl Gene ENSMUSG00000038024
Gene Name DENN domain containing 4C
Synonyms 1700065A05Rik
MMRRC Submission 045136-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7035 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 86666792-86768840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86730574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 824 (V824I)
Ref Sequence ENSEMBL: ENSMUSP00000123367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045512] [ENSMUST00000082026] [ENSMUST00000142837]
AlphaFold A6H8H2
Predicted Effect probably damaging
Transcript: ENSMUST00000045512
AA Change: V824I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: V824I

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 damaging
Transcript: ENSMUST00000082026
AA Change: V824I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: V824I

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 damaging
Transcript: ENSMUST00000142837
AA Change: V824I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: V824I

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T A 3: 68,777,272 (GRCm39) F78I probably benign Het
1700102P08Rik A T 9: 108,272,510 (GRCm39) D140V possibly damaging Het
6430548M08Rik A T 8: 120,879,225 (GRCm39) S208C probably damaging Het
Abcd4 G T 12: 84,662,123 (GRCm39) T41K probably damaging Het
Acaca C T 11: 84,129,769 (GRCm39) R375C probably damaging Het
Acad11 T A 9: 103,990,694 (GRCm39) V433D probably damaging Het
Adal T A 2: 120,985,942 (GRCm39) C226S probably benign Het
Aldh3b2 A T 19: 4,028,142 (GRCm39) M95L probably benign Het
Ano4 A G 10: 88,790,573 (GRCm39) F842S probably damaging Het
Ap5s1 T C 2: 131,054,732 (GRCm39) F181S probably damaging Het
Apba1 G A 19: 23,894,931 (GRCm39) D456N possibly damaging Het
Armh4 T A 14: 50,010,507 (GRCm39) H400L possibly damaging Het
Atp6v0a1 A C 11: 100,918,183 (GRCm39) Q199H probably damaging Het
Atp8a1 C G 5: 67,938,373 (GRCm39) G161A probably benign Het
Atxn2 C T 5: 121,949,530 (GRCm39) Q61* probably null Het
Cacna2d1 T A 5: 16,451,670 (GRCm39) I178K probably damaging Het
Catsperb A C 12: 101,381,593 (GRCm39) T92P probably damaging Het
Ccdc175 A G 12: 72,202,419 (GRCm39) I292T probably benign Het
Cep290 T A 10: 100,334,933 (GRCm39) S318T probably benign Het
Cfb T A 17: 35,079,007 (GRCm39) Y826F possibly damaging Het
Cntn1 C A 15: 92,212,392 (GRCm39) D851E probably benign Het
Coq6 A G 12: 84,415,415 (GRCm39) D146G probably damaging Het
Crem G A 18: 3,327,503 (GRCm39) T12I probably damaging Het
Dnase2b C T 3: 146,288,096 (GRCm39) C333Y probably damaging Het
Dop1a T A 9: 86,406,355 (GRCm39) F365I possibly damaging Het
Dysf A T 6: 84,163,374 (GRCm39) I1570F probably benign Het
Eml1 T A 12: 108,475,493 (GRCm39) C275S probably damaging Het
Fam135b A C 15: 71,334,102 (GRCm39) S1031A possibly damaging Het
Gga2 T C 7: 121,588,939 (GRCm39) D596G probably damaging Het
Gin1 A C 1: 97,720,100 (GRCm39) Y365S possibly damaging Het
Gipr T A 7: 18,896,809 (GRCm39) I154F probably damaging Het
Gm5478 A T 15: 101,553,632 (GRCm39) I284N possibly damaging Het
Gnat1 A T 9: 107,553,827 (GRCm39) probably benign Het
Gsdmc A T 15: 63,650,569 (GRCm39) probably null Het
Lama1 T A 17: 68,088,044 (GRCm39) I1554N Het
Mycbp2 T A 14: 103,412,417 (GRCm39) T2519S probably benign Het
Mylk G A 16: 34,797,352 (GRCm39) V1604M possibly damaging Het
Mypop C T 7: 18,725,922 (GRCm39) probably benign Het
Nol6 A T 4: 41,118,479 (GRCm39) V774E probably benign Het
Nol8 T C 13: 49,814,678 (GRCm39) V262A probably benign Het
Npepps A T 11: 97,113,965 (GRCm39) V637D probably damaging Het
Or1e16 T C 11: 73,286,544 (GRCm39) I101M probably benign Het
Or4f52 A G 2: 111,061,784 (GRCm39) M118T probably damaging Het
Or5p52 T C 7: 107,502,140 (GRCm39) V72A probably benign Het
Pcdhgb8 A T 18: 37,896,201 (GRCm39) I424F possibly damaging Het
Phf7 A C 14: 30,961,183 (GRCm39) W231G probably damaging Het
Plagl1 A G 10: 13,003,977 (GRCm39) probably benign Het
Plat A T 8: 23,262,327 (GRCm39) D117V probably benign Het
Prkag2 T C 5: 25,152,564 (GRCm39) Y180C probably damaging Het
Prpf8 T C 11: 75,395,654 (GRCm39) I1927T possibly damaging Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Rad17 T A 13: 100,764,133 (GRCm39) D446V possibly damaging Het
Ralgapa2 G T 2: 146,353,777 (GRCm39) Q15K probably damaging Het
Ret A G 6: 118,140,247 (GRCm39) Y982H probably damaging Het
Rnf145 T A 11: 44,452,583 (GRCm39) S521T probably damaging Het
Samd4 G A 14: 47,326,620 (GRCm39) silent Het
Sardh T C 2: 27,120,854 (GRCm39) D390G probably damaging Het
Saxo1 T C 4: 86,363,359 (GRCm39) T375A probably damaging Het
Scly A G 1: 91,236,125 (GRCm39) T126A probably damaging Het
Slc6a16 T A 7: 44,910,251 (GRCm39) V307D probably damaging Het
Sned1 T C 1: 93,189,852 (GRCm39) C320R probably damaging Het
Sspo G A 6: 48,426,147 (GRCm39) probably null Het
Sycp2l C T 13: 41,310,973 (GRCm39) T645I unknown Het
Tpmt T C 13: 47,193,584 (GRCm39) K72E probably damaging Het
Tsbp1 C T 17: 34,679,305 (GRCm39) probably benign Het
Ube2q2l G A 6: 136,378,347 (GRCm39) T161M possibly damaging Het
Vmn1r51 A T 6: 90,106,207 (GRCm39) H41L probably benign Het
Wdfy3 A T 5: 102,003,415 (GRCm39) I2900N probably damaging Het
Zfp663 A G 2: 165,195,023 (GRCm39) S399P probably benign Het
Zfp692 T C 11: 58,200,268 (GRCm39) probably null 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
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
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'- TGCCAAGTATCCTGGTTGGG -3'
(R):5'- GAGACCAACCTCCTTTTAACATAAG -3'

Sequencing Primer
(F):5'- CTTAAAACAGATGAGACATGTGCATG -3'
(R):5'- GCAAATATGCTACCCTGAC -3'
Posted On 2019-05-13