Incidental Mutation 'IGL03220:Deup1'
ID 413605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Deup1
Ensembl Gene ENSMUSG00000039977
Gene Name deuterosome assembly protein 1
Synonyms 4933401K09Rik, Ccdc67
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03220
Quality Score
Status
Chromosome 9
Chromosomal Location 15471160-15539229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15503707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 285 (I285L)
Ref Sequence ENSEMBL: ENSMUSP00000111256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045513] [ENSMUST00000115592] [ENSMUST00000115593] [ENSMUST00000152377]
AlphaFold Q7M6Y5
Predicted Effect probably benign
Transcript: ENSMUST00000045513
AA Change: I285L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: I285L

DomainStartEndE-ValueType
Pfam:CEP63 11 279 7.7e-92 PFAM
low complexity region 286 299 N/A INTRINSIC
coiled coil region 353 397 N/A INTRINSIC
coiled coil region 555 586 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115592
AA Change: I285L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: I285L

DomainStartEndE-ValueType
coiled coil region 29 59 N/A INTRINSIC
coiled coil region 166 196 N/A INTRINSIC
coiled coil region 226 277 N/A INTRINSIC
low complexity region 286 299 N/A INTRINSIC
coiled coil region 461 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115593
AA Change: I285L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: I285L

DomainStartEndE-ValueType
coiled coil region 29 59 N/A INTRINSIC
coiled coil region 166 196 N/A INTRINSIC
coiled coil region 226 277 N/A INTRINSIC
low complexity region 286 299 N/A INTRINSIC
coiled coil region 461 492 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137164
Predicted Effect probably benign
Transcript: ENSMUST00000152377
AA Change: I285L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977
AA Change: I285L

DomainStartEndE-ValueType
coiled coil region 29 59 N/A INTRINSIC
coiled coil region 166 196 N/A INTRINSIC
coiled coil region 226 277 N/A INTRINSIC
low complexity region 286 299 N/A INTRINSIC
coiled coil region 353 397 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T A 1: 179,615,767 (GRCm39) E368D probably benign Het
Arid2 A T 15: 96,259,653 (GRCm39) H271L probably damaging Het
Bsnd G T 4: 106,343,962 (GRCm39) Q115K possibly damaging Het
Ceacam5 T A 7: 17,494,653 (GRCm39) I887N probably damaging Het
Clrn2 T C 5: 45,621,070 (GRCm39) F155L probably damaging Het
Col12a1 A G 9: 79,606,765 (GRCm39) S553P probably damaging Het
Crnn C T 3: 93,056,674 (GRCm39) H487Y possibly damaging Het
Ddi2 T C 4: 141,435,767 (GRCm39) N90S probably benign Het
Dlgap4 T C 2: 156,546,546 (GRCm39) S405P probably damaging Het
Dnah11 A G 12: 118,069,720 (GRCm39) F1560L probably benign Het
Dock1 T C 7: 134,710,251 (GRCm39) probably null Het
Dst C A 1: 34,225,076 (GRCm39) Q1161K probably damaging Het
Dus1l G T 11: 120,683,185 (GRCm39) H280N probably damaging Het
Gm21985 C A 2: 112,187,829 (GRCm39) H964N possibly damaging Het
Gzmd A T 14: 56,367,886 (GRCm39) V129E probably damaging Het
Hmcn2 T A 2: 31,236,633 (GRCm39) F392Y possibly damaging Het
Kdelr2 T A 5: 143,403,870 (GRCm39) Y86* probably null Het
Kif26b T G 1: 178,692,434 (GRCm39) C458W probably damaging Het
Lhpp G A 7: 132,252,020 (GRCm39) V220I probably benign Het
Nfya T C 17: 48,707,521 (GRCm39) N7S possibly damaging Het
Or5ar1 G T 2: 85,671,326 (GRCm39) Q270K possibly damaging Het
Or5b12b C T 19: 12,861,815 (GRCm39) T190I possibly damaging Het
Or5b24 A C 19: 12,912,858 (GRCm39) Y252S probably damaging Het
Prkg1 A T 19: 30,546,637 (GRCm39) probably benign Het
Prpf6 A G 2: 181,274,672 (GRCm39) E383G probably damaging Het
Ptpn21 A T 12: 98,644,882 (GRCm39) V1153E probably damaging Het
Ryr1 A T 7: 28,759,280 (GRCm39) I3330N probably damaging Het
Sgk1 A G 10: 21,873,290 (GRCm39) D252G probably null Het
Shcbp1l T C 1: 153,308,911 (GRCm39) probably benign Het
Shoc1 G A 4: 59,082,378 (GRCm39) Q417* probably null Het
Skida1 T C 2: 18,052,972 (GRCm39) D60G probably damaging Het
Slc9a5 T A 8: 106,094,652 (GRCm39) C748S probably benign Het
Smc4 A T 3: 68,916,875 (GRCm39) Y163F possibly damaging Het
Spdya T C 17: 71,885,286 (GRCm39) S247P possibly damaging Het
Sptb T C 12: 76,659,684 (GRCm39) D1072G probably benign Het
St7l A T 3: 104,782,139 (GRCm39) probably benign Het
Trmt1l T C 1: 151,316,692 (GRCm39) probably benign Het
Tspan4 A G 7: 141,071,712 (GRCm39) Y153C probably damaging Het
Ulk4 A T 9: 120,974,402 (GRCm39) N944K probably damaging Het
Unc80 T C 1: 66,544,097 (GRCm39) C407R probably damaging Het
Zfp563 T G 17: 33,323,661 (GRCm39) S85R probably benign Het
Zp2 A C 7: 119,736,450 (GRCm39) L331R possibly damaging Het
Other mutations in Deup1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Deup1 APN 9 15,472,666 (GRCm39) missense probably damaging 0.96
IGL00927:Deup1 APN 9 15,521,967 (GRCm39) splice site probably benign
IGL00946:Deup1 APN 9 15,472,534 (GRCm39) missense possibly damaging 0.62
IGL02458:Deup1 APN 9 15,503,656 (GRCm39) missense probably benign 0.02
IGL02567:Deup1 APN 9 15,486,579 (GRCm39) missense probably damaging 1.00
IGL03089:Deup1 APN 9 15,519,096 (GRCm39) missense possibly damaging 0.62
IGL03147:Deup1 UTSW 9 15,521,910 (GRCm39) missense probably damaging 0.99
PIT4468001:Deup1 UTSW 9 15,475,301 (GRCm39) missense possibly damaging 0.79
R0035:Deup1 UTSW 9 15,511,117 (GRCm39) missense possibly damaging 0.89
R0035:Deup1 UTSW 9 15,511,117 (GRCm39) missense possibly damaging 0.89
R0324:Deup1 UTSW 9 15,493,829 (GRCm39) missense probably benign 0.01
R0539:Deup1 UTSW 9 15,493,893 (GRCm39) missense possibly damaging 0.51
R0835:Deup1 UTSW 9 15,511,047 (GRCm39) missense probably damaging 1.00
R1666:Deup1 UTSW 9 15,486,487 (GRCm39) missense possibly damaging 0.92
R2212:Deup1 UTSW 9 15,511,139 (GRCm39) missense probably benign 0.00
R2237:Deup1 UTSW 9 15,486,597 (GRCm39) missense probably damaging 1.00
R2238:Deup1 UTSW 9 15,486,597 (GRCm39) missense probably damaging 1.00
R2423:Deup1 UTSW 9 15,503,754 (GRCm39) nonsense probably null
R2929:Deup1 UTSW 9 15,486,484 (GRCm39) missense probably benign 0.03
R3890:Deup1 UTSW 9 15,511,009 (GRCm39) missense probably damaging 1.00
R3892:Deup1 UTSW 9 15,511,009 (GRCm39) missense probably damaging 1.00
R4941:Deup1 UTSW 9 15,499,323 (GRCm39) missense probably benign
R4959:Deup1 UTSW 9 15,523,310 (GRCm39) nonsense probably null
R4960:Deup1 UTSW 9 15,512,264 (GRCm39) missense possibly damaging 0.87
R4968:Deup1 UTSW 9 15,503,724 (GRCm39) missense probably damaging 0.99
R4973:Deup1 UTSW 9 15,523,310 (GRCm39) nonsense probably null
R5195:Deup1 UTSW 9 15,486,487 (GRCm39) missense possibly damaging 0.92
R5231:Deup1 UTSW 9 15,486,495 (GRCm39) missense probably damaging 0.96
R5470:Deup1 UTSW 9 15,493,916 (GRCm39) splice site probably null
R5931:Deup1 UTSW 9 15,472,618 (GRCm39) missense possibly damaging 0.55
R6049:Deup1 UTSW 9 15,472,552 (GRCm39) missense possibly damaging 0.75
R6373:Deup1 UTSW 9 15,472,638 (GRCm39) missense probably damaging 0.99
R6516:Deup1 UTSW 9 15,521,910 (GRCm39) missense probably damaging 0.99
R7948:Deup1 UTSW 9 15,521,944 (GRCm39) missense possibly damaging 0.76
R8373:Deup1 UTSW 9 15,503,671 (GRCm39) missense possibly damaging 0.80
R8725:Deup1 UTSW 9 15,503,721 (GRCm39) missense probably damaging 1.00
R9008:Deup1 UTSW 9 15,511,140 (GRCm39) missense probably damaging 0.99
R9462:Deup1 UTSW 9 15,493,882 (GRCm39) missense probably benign 0.04
R9545:Deup1 UTSW 9 15,519,120 (GRCm39) missense possibly damaging 0.95
Z1177:Deup1 UTSW 9 15,519,128 (GRCm39) missense probably benign 0.11
Z1177:Deup1 UTSW 9 15,512,199 (GRCm39) missense probably null 1.00
Posted On 2016-08-02