Incidental Mutation 'R2929:Deup1'
ID 254949
Institutional Source Beutler Lab
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 # R2929 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 15471160-15539229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15486484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 399 (V399I)
Ref Sequence ENSEMBL: ENSMUSP00000111256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045513] [ENSMUST00000115592] [ENSMUST00000115593]
AlphaFold Q7M6Y5
Predicted Effect probably benign
Transcript: ENSMUST00000045513
AA Change: V493I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: V493I

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: V399I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: V399I

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: V399I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: V399I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd177 G A 7: 24,453,704 (GRCm39) Q396* probably null Het
Cdadc1 A T 14: 59,835,284 (GRCm39) M1K probably null Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Cnnm3 T A 1: 36,563,140 (GRCm39) F701L possibly damaging Het
Cul7 C G 17: 46,962,526 (GRCm39) D52E probably benign Het
Dennd4a T C 9: 64,759,699 (GRCm39) V268A possibly damaging Het
Dscam T A 16: 96,486,612 (GRCm39) Q1021L possibly damaging Het
Dst A T 1: 34,206,143 (GRCm39) K932* probably null Het
Neurl2 T C 2: 164,675,264 (GRCm39) N33D possibly damaging Het
Pnma8b T C 7: 16,680,617 (GRCm39) S534P possibly damaging Het
Pole2 G A 12: 69,256,712 (GRCm39) T271M probably benign Het
Ppfibp2 A G 7: 107,296,858 (GRCm39) M191V probably damaging Het
Rad51ap2 A G 12: 11,507,185 (GRCm39) Q369R probably benign Het
Rbm45 A G 2: 76,208,763 (GRCm39) I300V probably benign Het
Ro60 G A 1: 143,633,616 (GRCm39) A494V possibly damaging Het
Sco1 T A 11: 66,954,748 (GRCm39) I251K probably damaging Het
Spmip4 G A 6: 50,551,285 (GRCm39) T388I probably benign Het
Zfp202 T C 9: 40,122,984 (GRCm39) V582A possibly damaging Het
Zfp219 T A 14: 52,246,436 (GRCm39) E230D probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCAATTGCCAGCCTGTAC -3'
(R):5'- GTTCCATAAACGTCCACTCAGTG -3'

Sequencing Primer
(F):5'- GCCAGCCTGTACTTTTTACAAAACAG -3'
(R):5'- TGAGAACGAAAGACTCCG -3'
Posted On 2014-12-29