Incidental Mutation 'R0010:Dennd4c'
ID 32463
Institutional Source Beutler Lab
Gene Symbol Dennd4c
Ensembl Gene ENSMUSG00000038024
Gene Name DENN domain containing 4C
Synonyms 1700065A05Rik
MMRRC Submission 038305-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0010 (G1)
Quality Score 171
Status Validated (trace)
Chromosome 4
Chromosomal Location 86666792-86768840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86699814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 222 (S222P)
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: S222P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: S222P

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: S222P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: S222P

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 damaging
Transcript: ENSMUST00000142837
AA Change: S222P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: S222P

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 0.1104 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,410,607 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Aoc1l3 A T 6: 48,965,840 (GRCm39) H616L probably damaging Het
Bbs7 T C 3: 36,661,866 (GRCm39) probably null Het
Cacna1h T C 17: 25,599,818 (GRCm39) K1566E probably damaging Het
Ccdc73 C T 2: 104,811,332 (GRCm39) probably benign Het
Cd74 A T 18: 60,942,143 (GRCm39) H124L probably benign Het
Cd74 A T 18: 60,936,968 (GRCm39) probably benign Het
Cdk5rap2 T C 4: 70,161,696 (GRCm39) E270G probably benign Het
Ces2a G A 8: 105,468,028 (GRCm39) D520N probably benign Het
Cldnd1 T A 16: 58,551,622 (GRCm39) probably benign Het
Cox17 T A 16: 38,167,532 (GRCm39) C24S possibly damaging Het
Cyp2b9 T A 7: 25,886,178 (GRCm39) probably benign Het
Dennd4a T C 9: 64,803,997 (GRCm39) L1112P probably benign Het
Dhx37 T A 5: 125,508,680 (GRCm39) Q85L probably benign Het
Egfem1 G T 3: 29,637,068 (GRCm39) C192F probably damaging Het
Eif3f A T 7: 108,540,212 (GRCm39) N336Y possibly damaging Het
Evc2 T A 5: 37,574,793 (GRCm39) L1016Q probably damaging Het
Fam114a2 G T 11: 57,404,982 (GRCm39) T40N probably damaging Het
Fam135b T C 15: 71,493,881 (GRCm39) K16R probably damaging Het
Fcho1 A G 8: 72,162,643 (GRCm39) Y725H probably damaging Het
Frem1 T C 4: 82,918,335 (GRCm39) I536V probably benign Het
Galnt2l G A 8: 122,997,337 (GRCm39) probably benign Het
Ginm1 T C 10: 7,651,138 (GRCm39) probably benign Het
Glrb A T 3: 80,767,622 (GRCm39) probably benign Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10320 T C 13: 98,626,054 (GRCm39) Y110C probably damaging Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gm5422 A G 10: 31,125,750 (GRCm39) noncoding transcript Het
Igkv6-29 A T 6: 70,115,754 (GRCm39) probably benign Het
Inpp5d G A 1: 87,625,268 (GRCm39) probably null Het
Itpr3 T G 17: 27,339,951 (GRCm39) V2610G probably damaging Het
Kmt5c T A 7: 4,749,207 (GRCm39) M88K probably benign Het
Lrp12 C T 15: 39,741,672 (GRCm39) A367T probably damaging Het
Ltbp1 A G 17: 75,670,386 (GRCm39) T1476A probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Milr1 T G 11: 106,657,829 (GRCm39) *209G probably null Het
Mitf A G 6: 97,784,242 (GRCm39) K33R probably benign Het
Mon2 A C 10: 122,868,599 (GRCm39) S485A probably damaging Het
Mpdu1 C T 11: 69,549,667 (GRCm39) G47R probably damaging Het
Ms4a4d A G 19: 11,532,190 (GRCm39) N112S probably damaging Het
Mybpc3 G A 2: 90,965,178 (GRCm39) W1082* probably null Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Naa15 A T 3: 51,343,634 (GRCm39) probably null Het
Nav3 A G 10: 109,659,087 (GRCm39) probably benign Het
Nek7 T A 1: 138,471,942 (GRCm39) Q66L possibly damaging Het
Nktr G A 9: 121,570,232 (GRCm39) probably benign Het
Nlgn1 G T 3: 25,490,006 (GRCm39) probably benign Het
Npr1 T C 3: 90,362,139 (GRCm39) E1002G probably damaging Het
Nup133 A T 8: 124,631,318 (GRCm39) I1072N probably damaging Het
Oc90 C T 15: 65,748,397 (GRCm39) C371Y probably damaging Het
Or5ak24 A T 2: 85,260,239 (GRCm39) D311E probably benign Het
Or7g20 A T 9: 18,946,618 (GRCm39) L66F probably damaging Het
Or8b42 A T 9: 38,342,216 (GRCm39) I213F possibly damaging Het
Pradc1 A T 6: 85,424,213 (GRCm39) N44K probably damaging Het
Pradc1 T C 6: 85,424,602 (GRCm39) D116G probably damaging Het
Ptprk G A 10: 28,461,965 (GRCm39) C91Y probably damaging Het
Pus7 T C 5: 23,952,843 (GRCm39) I491V probably benign Het
Rock1 T A 18: 10,084,380 (GRCm39) D951V probably damaging Het
Scgb2b26 T A 7: 33,643,774 (GRCm39) E55D probably damaging Het
Scn8a T C 15: 100,911,454 (GRCm39) V958A probably damaging Het
Sec14l1 T C 11: 117,034,596 (GRCm39) probably benign Het
Sec24c A G 14: 20,739,329 (GRCm39) probably benign Het
Sema6b C T 17: 56,431,105 (GRCm39) E853K probably benign Het
Sgk1 G A 10: 21,873,337 (GRCm39) probably null Het
Shprh C T 10: 11,027,675 (GRCm39) T94I probably benign Het
Slc16a3 T C 11: 120,847,531 (GRCm39) S240P probably benign Het
Slc5a8 T C 10: 88,722,452 (GRCm39) V95A probably benign Het
Smg1 A T 7: 117,771,082 (GRCm39) probably benign Het
Spta1 G A 1: 174,045,509 (GRCm39) V1556I probably benign Het
Trappc14 T C 5: 138,258,555 (GRCm39) probably null Het
Trappc4 G A 9: 44,316,528 (GRCm39) probably benign Het
Tubgcp6 A G 15: 88,987,386 (GRCm39) S1188P probably benign Het
Txlna T G 4: 129,522,879 (GRCm39) D487A probably benign Het
Ube2d2b T C 5: 107,978,502 (GRCm39) F51S possibly damaging Het
Vmn2r6 G A 3: 64,466,966 (GRCm39) Q178* probably null Het
Wdfy3 T C 5: 101,996,215 (GRCm39) T3234A probably damaging Het
Ylpm1 C A 12: 85,075,800 (GRCm39) Q384K probably damaging Het
Zbtb41 T G 1: 139,351,268 (GRCm39) V127G probably damaging Het
Zfp605 T A 5: 110,275,400 (GRCm39) C173S probably benign Het
Zfp608 A T 18: 55,028,286 (GRCm39) probably benign Het
Zhx2 T C 15: 57,684,670 (GRCm39) V13A 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
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
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'- CGTGTAGCTTTCAGCACTGTCTTACATT -3'
(R):5'- CAACCTGACCCAAAGTCTGCTAATTCT -3'

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