Incidental Mutation 'PIT4354001:Depdc7'
ID 554807
Institutional Source Beutler Lab
Gene Symbol Depdc7
Ensembl Gene ENSMUSG00000027173
Gene Name DEP domain containing 7
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # PIT4354001 (G1)
Quality Score 156.008
Status Not validated
Chromosome 2
Chromosomal Location 104552129-104573202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104558533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 163 (S163P)
Ref Sequence ENSEMBL: ENSMUSP00000028595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028595]
AlphaFold Q91WS7
Predicted Effect probably benign
Transcript: ENSMUST00000028595
AA Change: S163P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028595
Gene: ENSMUSG00000027173
AA Change: S163P

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
Coding Region Coverage
  • 1x: 92.5%
  • 3x: 90.1%
  • 10x: 83.2%
  • 20x: 69.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A T 5: 62,811,392 (GRCm39) Y1140N probably damaging Het
Ccdc83 A T 7: 89,873,182 (GRCm39) M391K probably benign Het
Cntnap1 A T 11: 101,072,123 (GRCm39) I459F probably damaging Het
Cr2 T A 1: 194,848,617 (GRCm39) Y302F probably damaging Het
Ctu2 A T 8: 123,205,714 (GRCm39) D179V probably damaging Het
Cubn G A 2: 13,473,663 (GRCm39) Q427* probably null Het
Eif2s3y C T Y: 1,020,126 (GRCm39) R385C probably benign Het
Gigyf1 A G 5: 137,522,366 (GRCm39) K728R unknown Het
Gm1587 G A 14: 78,034,473 (GRCm39) R32* probably null Het
Hjv T C 3: 96,435,761 (GRCm39) C340R probably damaging Het
Isy1 A G 6: 87,810,653 (GRCm39) I53T possibly damaging Het
Myh8 A T 11: 67,180,456 (GRCm39) N564I probably benign Het
Neb A T 2: 52,135,330 (GRCm39) I3260N probably damaging Het
Npc1 C T 18: 12,344,592 (GRCm39) G426E probably benign Het
Nrdc G A 4: 108,911,222 (GRCm39) probably null Het
Or2v1 G A 11: 49,025,132 (GRCm39) V38M probably damaging Het
Or4c10b T A 2: 89,711,852 (GRCm39) S227R probably benign Het
Or4c116 C A 2: 88,942,830 (GRCm39) E9* probably null Het
Pate8 T A 9: 36,492,597 (GRCm39) S103C possibly damaging Het
Prss51 T A 14: 64,334,546 (GRCm39) V91D probably damaging Het
Qpct A C 17: 79,389,188 (GRCm39) Y280S probably benign Het
Rbpms A G 8: 34,296,866 (GRCm39) V137A possibly damaging Het
Rgl2 T A 17: 34,152,914 (GRCm39) M441K possibly damaging Het
Sdhaf3 A T 6: 6,956,072 (GRCm39) I16F possibly damaging Het
Slc38a3 T G 9: 107,534,848 (GRCm39) N176H probably benign Het
Sos1 T C 17: 80,756,785 (GRCm39) S256G possibly damaging Het
Spg11 A T 2: 121,918,666 (GRCm39) C988S probably damaging Het
Sync A T 4: 129,200,447 (GRCm39) Q451L possibly damaging Het
Tbc1d31 A G 15: 57,831,329 (GRCm39) Y929C probably benign Het
Thbs2 G A 17: 14,910,230 (GRCm39) T123I probably damaging Het
Thsd7a A C 6: 12,331,926 (GRCm39) probably null Het
Tnfrsf11a T C 1: 105,749,242 (GRCm39) L220P probably damaging Het
Trbv13-2 G A 6: 41,098,752 (GRCm39) C109Y probably damaging Het
Ugt3a1 G A 15: 9,306,446 (GRCm39) W198* probably null Het
Usp14 G A 18: 9,996,189 (GRCm39) R464W probably damaging Het
Vmn1r2 C T 4: 3,172,162 (GRCm39) S27L probably benign Het
Vmn1r68 T A 7: 10,261,958 (GRCm39) N47Y probably benign Het
Zfc3h1 T A 10: 115,262,944 (GRCm39) Y1719* probably null 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
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
R0908: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'- TAACACACAGCACACTCTTTCTCTG -3'
(R):5'- TTTTACCAGGCCTCGCTCAG -3'

Sequencing Primer
(F):5'- CTTTCTCTGCTTGAACATGAAAATTC -3'
(R):5'- AGTGGTATCTACCTGTAAGCCCAG -3'
Posted On 2019-06-07