Incidental Mutation 'R5224:Depdc1b'
ID 402516
Institutional Source Beutler Lab
Gene Symbol Depdc1b
Ensembl Gene ENSMUSG00000021697
Gene Name DEP domain containing 1B
Synonyms XTP1
MMRRC Submission 042797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5224 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 108452592-108526100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108521354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 387 (D387G)
Ref Sequence ENSEMBL: ENSMUSP00000132972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051594] [ENSMUST00000163307] [ENSMUST00000171178]
AlphaFold Q8BH88
Predicted Effect probably damaging
Transcript: ENSMUST00000051594
AA Change: D387G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059291
Gene: ENSMUSG00000021697
AA Change: D387G

DomainStartEndE-ValueType
DEP 24 108 4.36e-20 SMART
Pfam:RhoGAP 267 347 8.3e-10 PFAM
low complexity region 464 480 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163307
AA Change: D387G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131707
Gene: ENSMUSG00000021697
AA Change: D387G

DomainStartEndE-ValueType
DEP 24 108 4.36e-20 SMART
Pfam:RhoGAP 264 347 7.9e-10 PFAM
low complexity region 464 480 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171178
AA Change: D387G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132972
Gene: ENSMUSG00000021697
AA Change: D387G

DomainStartEndE-ValueType
DEP 24 108 4.36e-20 SMART
Pfam:RhoGAP 264 347 9.1e-10 PFAM
Meta Mutation Damage Score 0.4789 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 CGTGACCTTTCTGGT CGT 10: 85,481,386 (GRCm39) probably benign Het
Ahi1 A G 10: 20,862,921 (GRCm39) S699G probably damaging Het
Atp10d C T 5: 72,426,669 (GRCm39) A959V probably benign Het
Axl T C 7: 25,486,369 (GRCm39) M112V probably benign Het
Brd10 A T 19: 29,696,450 (GRCm39) S1014R possibly damaging Het
Camk1g A T 1: 193,037,342 (GRCm39) D119E probably damaging Het
Capn8 A C 1: 182,424,554 (GRCm39) N117T probably damaging Het
Cct3 G A 3: 88,204,532 (GRCm39) probably benign Het
Csmd3 T C 15: 47,752,080 (GRCm39) T1293A possibly damaging Het
Dtx3l A G 16: 35,759,163 (GRCm39) Y29H possibly damaging Het
Erp44 A T 4: 48,279,435 (GRCm39) N2K probably benign Het
Fmn1 A G 2: 113,195,470 (GRCm39) E390G unknown Het
Ganab T A 19: 8,887,955 (GRCm39) D396E probably benign Het
Gatd3a A G 10: 77,999,367 (GRCm39) V148A probably damaging Het
Gcc2 T A 10: 58,121,982 (GRCm39) S1140T probably damaging Het
Gm7008 T C 12: 40,273,342 (GRCm39) probably benign Het
Gphn T A 12: 78,637,361 (GRCm39) F354I probably damaging Het
H2-T7 G A 17: 36,454,231 (GRCm39) noncoding transcript Het
Hnrnpul1 G A 7: 25,444,600 (GRCm39) T236M probably damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Jaml T A 9: 45,015,564 (GRCm39) M356K probably damaging Het
Kbtbd12 T A 6: 88,594,681 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,954 (GRCm39) N39K probably damaging Het
Lrp1b G A 2: 41,000,852 (GRCm39) T2238I possibly damaging Het
Lypd8 T A 11: 58,277,634 (GRCm39) C139S possibly damaging Het
Masp1 G T 16: 23,313,445 (GRCm39) H163Q probably damaging Het
Mpo T C 11: 87,687,283 (GRCm39) probably benign Het
Muc19 A T 15: 91,825,910 (GRCm39) noncoding transcript Het
Muc5ac T A 7: 141,347,708 (GRCm39) S438T probably benign Het
Nav2 T C 7: 49,201,473 (GRCm39) V160A probably benign Het
Nlrc5 G T 8: 95,220,944 (GRCm39) A1128S probably benign Het
Nlrp5 T A 7: 23,117,401 (GRCm39) L375Q probably damaging Het
Nlrp9a A G 7: 26,256,717 (GRCm39) T112A probably benign Het
Nppa T C 4: 148,085,773 (GRCm39) S127P probably damaging Het
Or8k24 A G 2: 86,216,193 (GRCm39) S190P possibly damaging Het
Osbpl1a T C 18: 13,066,753 (GRCm39) N2S probably benign Het
Otoa A G 7: 120,739,016 (GRCm39) T742A probably damaging Het
Pcdh10 A G 3: 45,347,249 (GRCm39) R1015G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plpp1 T A 13: 112,988,046 (GRCm39) Y56* probably null Het
Ppp1r12a A G 10: 108,096,886 (GRCm39) T236A probably benign Het
Rhag T C 17: 41,139,395 (GRCm39) L110P probably damaging Het
Scn11a T A 9: 119,583,858 (GRCm39) N1586Y probably damaging Het
Sgms2 T A 3: 131,135,766 (GRCm39) K36I probably damaging Het
Slc22a2 A G 17: 12,805,719 (GRCm39) N157D probably damaging Het
Stx19 T G 16: 62,642,937 (GRCm39) M251R probably benign Het
Suco A G 1: 161,662,274 (GRCm39) I719T probably benign Het
Tnr A G 1: 159,750,885 (GRCm39) D1282G probably damaging Het
Tram1 T C 1: 13,648,349 (GRCm39) R154G probably benign Het
Ubtfl1 G T 9: 18,321,326 (GRCm39) V285L probably benign Het
Ugt2b38 A G 5: 87,571,601 (GRCm39) S144P probably benign Het
Washc2 T G 6: 116,185,965 (GRCm39) *58G probably null Het
Zfp354a T A 11: 50,960,876 (GRCm39) S362R probably damaging Het
Other mutations in Depdc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Depdc1b APN 13 108,493,974 (GRCm39) missense probably benign
IGL01071:Depdc1b APN 13 108,493,975 (GRCm39) missense probably benign
IGL01778:Depdc1b APN 13 108,498,861 (GRCm39) missense probably benign 0.02
IGL02368:Depdc1b APN 13 108,500,113 (GRCm39) missense probably benign
R0310:Depdc1b UTSW 13 108,510,375 (GRCm39) missense possibly damaging 0.88
R0483:Depdc1b UTSW 13 108,510,382 (GRCm39) missense probably benign 0.03
R0650:Depdc1b UTSW 13 108,460,443 (GRCm39) missense probably damaging 1.00
R0900:Depdc1b UTSW 13 108,498,794 (GRCm39) missense possibly damaging 0.68
R0932:Depdc1b UTSW 13 108,523,369 (GRCm39) missense probably benign 0.23
R1757:Depdc1b UTSW 13 108,460,482 (GRCm39) missense probably damaging 1.00
R2174:Depdc1b UTSW 13 108,498,787 (GRCm39) nonsense probably null
R2308:Depdc1b UTSW 13 108,510,375 (GRCm39) missense possibly damaging 0.88
R3941:Depdc1b UTSW 13 108,505,370 (GRCm39) missense probably damaging 1.00
R4213:Depdc1b UTSW 13 108,525,225 (GRCm39) missense probably damaging 1.00
R4613:Depdc1b UTSW 13 108,500,177 (GRCm39) missense probably damaging 1.00
R4771:Depdc1b UTSW 13 108,519,434 (GRCm39) missense probably benign 0.14
R5292:Depdc1b UTSW 13 108,510,376 (GRCm39) missense probably damaging 0.99
R6241:Depdc1b UTSW 13 108,460,653 (GRCm39) missense possibly damaging 0.78
R6399:Depdc1b UTSW 13 108,460,580 (GRCm39) missense probably damaging 1.00
R6418:Depdc1b UTSW 13 108,493,956 (GRCm39) missense probably damaging 0.97
R7078:Depdc1b UTSW 13 108,523,505 (GRCm39) missense possibly damaging 0.93
R7120:Depdc1b UTSW 13 108,498,781 (GRCm39) missense probably benign 0.01
R7127:Depdc1b UTSW 13 108,460,462 (GRCm39) missense probably damaging 1.00
R7209:Depdc1b UTSW 13 108,519,389 (GRCm39) missense possibly damaging 0.55
R7385:Depdc1b UTSW 13 108,500,166 (GRCm39) missense probably damaging 1.00
R8098:Depdc1b UTSW 13 108,460,593 (GRCm39) missense probably damaging 0.97
R8552:Depdc1b UTSW 13 108,493,959 (GRCm39) missense probably damaging 1.00
R8825:Depdc1b UTSW 13 108,521,316 (GRCm39) missense possibly damaging 0.56
R8975:Depdc1b UTSW 13 108,525,094 (GRCm39) missense probably null 0.00
R9648:Depdc1b UTSW 13 108,460,444 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGCAAACTAACTGGCTTCAG -3'
(R):5'- CGCCATGTTTAGTAGCAGACC -3'

Sequencing Primer
(F):5'- GCTTCAGTTTAGAGAAGGCAAG -3'
(R):5'- GCTCTAAGCACTTTAATCCTTGG -3'
Posted On 2016-07-22