Incidental Mutation 'R0908:Depdc7'
ID 83381
Institutional Source Beutler Lab
Gene Symbol Depdc7
Ensembl Gene ENSMUSG00000027173
Gene Name DEP domain containing 7
Synonyms
MMRRC Submission 039066-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0908 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 104552129-104573202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104558437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 195 (S195P)
Ref Sequence ENSEMBL: ENSMUSP00000028595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028595]
AlphaFold Q91WS7
Predicted Effect probably benign
Transcript: ENSMUST00000028595
AA Change: S195P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028595
Gene: ENSMUSG00000027173
AA Change: S195P

DomainStartEndE-ValueType
DEP 46 136 4.97e-24 SMART
low complexity region 461 478 N/A INTRINSIC
low complexity region 480 493 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144133
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,775,838 (GRCm39) F1676I probably damaging Het
Afg2a T A 3: 37,485,772 (GRCm39) probably null Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Atp8b3 T C 10: 80,355,918 (GRCm39) T1265A probably benign Het
Cep112 T C 11: 108,555,323 (GRCm39) V679A possibly damaging Het
Cts8 A T 13: 61,398,730 (GRCm39) Y259N probably damaging Het
Dio2 A T 12: 90,696,422 (GRCm39) C189S probably damaging Het
Dmc1 A G 15: 79,469,890 (GRCm39) L189P probably damaging Het
Ehmt1 A G 2: 24,694,900 (GRCm39) Y1016H probably damaging Het
Gle1 T C 2: 29,826,133 (GRCm39) S71P probably benign Het
Gykl1 T A 18: 52,828,441 (GRCm39) *550K probably null Het
Klhl32 T C 4: 24,682,092 (GRCm39) D197G probably damaging Het
Krt78 G A 15: 101,859,336 (GRCm39) T287M probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mrpl1 A T 5: 96,409,942 (GRCm39) I272L probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Or52e19 T C 7: 102,959,780 (GRCm39) V284A possibly damaging Het
Or8g23 T C 9: 38,971,243 (GRCm39) T240A probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Pde5a A T 3: 122,572,650 (GRCm39) I344L probably benign Het
Prl7c1 A G 13: 27,957,717 (GRCm39) I241T possibly damaging Het
Rp1 T C 1: 4,414,878 (GRCm39) E2078G probably benign Het
Scamp3 T C 3: 89,086,746 (GRCm39) probably null Het
Septin8 A G 11: 53,428,697 (GRCm39) H414R probably benign Het
Spef2 T A 15: 9,614,281 (GRCm39) probably null Het
Txlnb A G 10: 17,674,925 (GRCm39) N26S probably damaging Het
Vmn1r11 G T 6: 57,115,049 (GRCm39) V201L probably damaging Het
Other mutations in Depdc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Depdc7 APN 2 104,552,426 (GRCm39) nonsense probably null
IGL01419:Depdc7 APN 2 104,552,455 (GRCm39) missense possibly damaging 0.93
IGL02043:Depdc7 APN 2 104,560,626 (GRCm39) missense probably benign 0.17
IGL02819:Depdc7 APN 2 104,555,071 (GRCm39) missense probably benign 0.00
IGL02869:Depdc7 APN 2 104,560,694 (GRCm39) missense probably damaging 1.00
IGL02942:Depdc7 APN 2 104,558,439 (GRCm39) missense probably damaging 0.99
PIT4354001:Depdc7 UTSW 2 104,558,533 (GRCm39) missense probably benign 0.01
R0396:Depdc7 UTSW 2 104,557,668 (GRCm39) splice site probably benign
R0616:Depdc7 UTSW 2 104,557,650 (GRCm39) missense probably benign 0.33
R0631:Depdc7 UTSW 2 104,552,332 (GRCm39) missense possibly damaging 0.68
R0633:Depdc7 UTSW 2 104,553,226 (GRCm39) missense probably benign
R0856:Depdc7 UTSW 2 104,558,437 (GRCm39) missense probably benign 0.01
R1184:Depdc7 UTSW 2 104,560,523 (GRCm39) splice site probably benign
R2129:Depdc7 UTSW 2 104,558,518 (GRCm39) missense probably benign 0.00
R5144:Depdc7 UTSW 2 104,560,598 (GRCm39) missense probably damaging 1.00
R6639:Depdc7 UTSW 2 104,555,098 (GRCm39) missense probably damaging 1.00
R7304:Depdc7 UTSW 2 104,553,463 (GRCm39) missense possibly damaging 0.89
R7552:Depdc7 UTSW 2 104,557,585 (GRCm39) missense possibly damaging 0.89
R7612:Depdc7 UTSW 2 104,560,853 (GRCm39) missense probably benign 0.39
R7835:Depdc7 UTSW 2 104,558,530 (GRCm39) missense probably benign 0.00
R8274:Depdc7 UTSW 2 104,558,551 (GRCm39) missense probably benign 0.12
R8475:Depdc7 UTSW 2 104,552,314 (GRCm39) missense probably benign 0.07
R8940:Depdc7 UTSW 2 104,554,913 (GRCm39) critical splice donor site probably null
R9499:Depdc7 UTSW 2 104,553,220 (GRCm39) critical splice donor site probably null
R9551:Depdc7 UTSW 2 104,553,220 (GRCm39) critical splice donor site probably null
X0028:Depdc7 UTSW 2 104,560,886 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATTTCAGACTTGAAGCCCTGCC -3'
(R):5'- TGAAACATAAGCTCCGTAGCCACTG -3'

Sequencing Primer
(F):5'- AAGCCCTGCCAGCAGATG -3'
(R):5'- GCAGCTCTAACACTCATCATTACTG -3'
Posted On 2013-11-08