Incidental Mutation 'R6516:Deup1'
ID 520715
Institutional Source Beutler Lab
Gene Symbol Deup1
Ensembl Gene ENSMUSG00000039977
Gene Name deuterosome assembly protein 1
Synonyms 4933401K09Rik, Ccdc67
MMRRC Submission 044643-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6516 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 15471160-15539229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 15521910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 85 (M85R)
Ref Sequence ENSEMBL: ENSMUSP00000111256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045513] [ENSMUST00000115592] [ENSMUST00000115593] [ENSMUST00000152377]
AlphaFold Q7M6Y5
Predicted Effect probably damaging
Transcript: ENSMUST00000045513
AA Change: M85R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039912
Gene: ENSMUSG00000039977
AA Change: M85R

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 damaging
Transcript: ENSMUST00000115592
AA Change: M85R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111255
Gene: ENSMUSG00000039977
AA Change: M85R

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 damaging
Transcript: ENSMUST00000115593
AA Change: M85R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111256
Gene: ENSMUSG00000039977
AA Change: M85R

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
AA Change: M85R

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000121526
Gene: ENSMUSG00000039977
AA Change: M85R

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik A T 1: 161,780,235 (GRCm39) V93E probably benign Het
Adam18 A G 8: 25,164,703 (GRCm39) L4P probably damaging Het
Adcy8 A T 15: 64,571,236 (GRCm39) Y1136N probably damaging Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankrd6 G A 4: 32,836,427 (GRCm39) R43W probably damaging Het
Ano8 G T 8: 71,934,424 (GRCm39) probably null Het
Arhgap31 A G 16: 38,429,766 (GRCm39) F370L possibly damaging Het
C7 A G 15: 5,086,563 (GRCm39) V26A probably damaging Het
Cimap1a G A 7: 140,428,718 (GRCm39) G128S probably damaging Het
Clec4a2 C A 6: 123,116,365 (GRCm39) Q153K probably damaging Het
Cyp2c67 T A 19: 39,605,873 (GRCm39) D341V probably damaging Het
Ddo T A 10: 40,507,741 (GRCm39) V46E probably damaging Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah2 A G 11: 69,356,212 (GRCm39) F2147L probably benign Het
Dock10 T C 1: 80,518,178 (GRCm39) E1298G probably damaging Het
Dock4 T A 12: 40,781,898 (GRCm39) V701E possibly damaging Het
Dthd1 A T 5: 62,996,607 (GRCm39) K447N probably benign Het
Eno2 G T 6: 124,738,672 (GRCm39) probably null Het
Fastkd5 T A 2: 130,456,221 (GRCm39) T790S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Gpbp1 A T 13: 111,589,636 (GRCm39) H111Q probably benign Het
Grk3 A T 5: 113,109,415 (GRCm39) probably benign Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kcnc2 A G 10: 112,297,905 (GRCm39) T610A probably benign Het
Kcnh1 T A 1: 192,101,089 (GRCm39) D560E possibly damaging Het
Klc4 A T 17: 46,953,181 (GRCm39) N116K probably damaging Het
Krba1 C T 6: 48,390,206 (GRCm39) Q656* probably null Het
Mchr1 A G 15: 81,122,069 (GRCm39) Y273C probably damaging Het
Myh15 T A 16: 48,957,996 (GRCm39) C938S probably benign Het
Nutm1 T C 2: 112,081,562 (GRCm39) E367G probably damaging Het
Or10a3n A T 7: 108,492,972 (GRCm39) I214K probably damaging Het
Or4e2 A T 14: 52,688,586 (GRCm39) T239S probably damaging Het
Or5w18 A T 2: 87,633,114 (GRCm39) Y127F possibly damaging Het
Or8b48 A G 9: 38,492,768 (GRCm39) N65S probably damaging Het
Pikfyve G T 1: 65,304,940 (GRCm39) M1697I probably benign Het
Plcd1 A G 9: 118,905,271 (GRCm39) S147P probably damaging Het
Plin3 G A 17: 56,593,223 (GRCm39) P113L probably damaging Het
Pum3 C A 19: 27,403,408 (GRCm39) S31I probably benign Het
Robo1 T C 16: 72,821,241 (GRCm39) V1327A probably benign Het
Rpl15-ps6 A G 15: 52,341,200 (GRCm39) noncoding transcript Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Scnn1b T C 7: 121,511,335 (GRCm39) S341P probably damaging Het
Sh3bp5 A T 14: 31,097,629 (GRCm39) M362K possibly damaging Het
Slc24a5 A G 2: 124,930,027 (GRCm39) T443A probably benign Het
Slc25a12 T C 2: 71,154,427 (GRCm39) Y81C probably damaging Het
Slc43a3 A G 2: 84,788,105 (GRCm39) T496A probably benign Het
Smap2 C T 4: 120,840,303 (GRCm39) probably null Het
Sptbn5 T A 2: 119,878,431 (GRCm39) probably benign Het
Taar5 A G 10: 23,847,564 (GRCm39) S321G possibly damaging Het
Tbx21 T C 11: 96,990,782 (GRCm39) I299V possibly damaging Het
Tcerg1 T C 18: 42,663,957 (GRCm39) probably null Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Tmem176a T G 6: 48,821,002 (GRCm39) probably null Het
Tmem236 T C 2: 14,200,791 (GRCm39) S119P probably benign Het
Tmprss11a C T 5: 86,567,987 (GRCm39) V247M probably damaging Het
Tnks1bp1 T C 2: 84,901,071 (GRCm39) S1593P probably damaging Het
Ttc9b T A 7: 27,355,412 (GRCm39) D227E probably benign Het
Usp33 A C 3: 152,079,053 (GRCm39) Q435P probably benign Het
Vti1a C T 19: 55,369,390 (GRCm39) A94V probably damaging Het
Wdr3 A G 3: 100,052,992 (GRCm39) Y587H probably damaging Het
Wwc1 G A 11: 35,758,129 (GRCm39) A739V probably benign Het
Zfp628 C G 7: 4,923,201 (GRCm39) Y474* probably null Het
Zfp820 A T 17: 22,038,354 (GRCm39) C325S probably 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
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
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'- AAGGCAGTGCAGATGCTATC -3'
(R):5'- CACGACAAACATTTGCCCTTG -3'

Sequencing Primer
(F):5'- ACCCATGAGATAGTGAAAGTCTG -3'
(R):5'- TTGGCTCTGTGCAGCGC -3'
Posted On 2018-06-06