Incidental Mutation 'IGL00927:Deup1'
ID 28167
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 # IGL00927
Quality Score
Status
Chromosome 9
Chromosomal Location 15471160-15539229 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 15521967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045513] [ENSMUST00000115592] [ENSMUST00000115593] [ENSMUST00000152377]
AlphaFold Q7M6Y5
Predicted Effect probably benign
Transcript: ENSMUST00000045513
SMART Domains Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977

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
SMART Domains Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977

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
SMART Domains Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977

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: ENSMUST00000152377
SMART Domains Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Deup1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Deup1 APN 9 15,472,666 (GRCm39) missense probably damaging 0.96
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
IGL03220:Deup1 APN 9 15,503,707 (GRCm39) missense probably benign 0.38
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 2013-04-17