Incidental Mutation 'R4866:Depdc1a'
ID 374897
Institutional Source Beutler Lab
Gene Symbol Depdc1a
Ensembl Gene ENSMUSG00000028175
Gene Name DEP domain containing 1a
Synonyms 5830484J08Rik
MMRRC Submission 042476-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R4866 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 159201070-159235592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 159221764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 236 (I236K)
Ref Sequence ENSEMBL: ENSMUSP00000101656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029825] [ENSMUST00000106041] [ENSMUST00000120272]
AlphaFold Q8CIG0
Predicted Effect probably damaging
Transcript: ENSMUST00000029825
AA Change: I236K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: I236K

DomainStartEndE-ValueType
DEP 24 108 3.51e-24 SMART
low complexity region 505 524 N/A INTRINSIC
low complexity region 542 553 N/A INTRINSIC
SCOP:d1f7ca_ 584 680 3e-9 SMART
low complexity region 745 762 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106041
AA Change: I236K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: I236K

DomainStartEndE-ValueType
DEP 24 108 3.51e-24 SMART
Pfam:RhoGAP 251 357 2.3e-11 PFAM
coiled coil region 460 488 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000120272
AA Change: I236K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: I236K

DomainStartEndE-ValueType
DEP 24 108 3.51e-24 SMART
low complexity region 505 524 N/A INTRINSIC
low complexity region 542 553 N/A INTRINSIC
SCOP:d1f7ca_ 584 680 4e-9 SMART
coiled coil region 737 765 N/A INTRINSIC
Meta Mutation Damage Score 0.1865 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Abcc5 A T 16: 20,241,182 (GRCm39) M1K probably null Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adam5 A C 8: 25,232,172 (GRCm39) probably null Het
Adam5 G A 8: 25,271,619 (GRCm39) T596I probably damaging Het
Apoa2 T C 1: 171,053,369 (GRCm39) probably null Het
Atad1 A T 19: 32,679,964 (GRCm39) H79Q probably benign Het
Atp8a2 T C 14: 59,928,916 (GRCm39) D1046G probably damaging Het
Bcam A G 7: 19,499,397 (GRCm39) Y209H probably benign Het
Brpf1 G A 6: 113,299,431 (GRCm39) V1120I probably damaging Het
Catsperb G A 12: 101,474,208 (GRCm39) C302Y probably damaging Het
Cbl A G 9: 44,064,166 (GRCm39) V790A probably benign Het
Ccdc60 T C 5: 116,310,549 (GRCm39) D171G probably damaging Het
Cd300c2 A T 11: 114,891,807 (GRCm39) C22* probably null Het
Cdan1 C A 2: 120,561,928 (GRCm39) probably benign Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cfap410 T A 10: 77,817,413 (GRCm39) probably null Het
Cfap65 T C 1: 74,964,716 (GRCm39) D479G probably damaging Het
Cmbl A G 15: 31,585,490 (GRCm39) K113E probably benign Het
Cog6 G A 3: 52,918,019 (GRCm39) T173I probably benign Het
Cts6 T A 13: 61,350,090 (GRCm39) probably null Het
Cyp11a1 G A 9: 57,933,380 (GRCm39) V413M probably damaging Het
Cyp2c39 G A 19: 39,502,020 (GRCm39) M136I probably benign Het
Dclre1b A T 3: 103,715,412 (GRCm39) Y29N probably damaging Het
Dhx36 A T 3: 62,380,198 (GRCm39) Y833N probably damaging Het
Dop1b G T 16: 93,560,318 (GRCm39) probably null Het
Elovl3 A G 19: 46,120,603 (GRCm39) E32G possibly damaging Het
Entrep1 A G 19: 23,952,790 (GRCm39) S507P possibly damaging Het
Epcam T C 17: 87,951,049 (GRCm39) V212A possibly damaging Het
Fcrl2 A T 3: 87,170,773 (GRCm39) C4S possibly damaging Het
Galnt16 T C 12: 80,630,851 (GRCm39) Y310H probably damaging Het
Gm12789 G A 4: 101,846,182 (GRCm39) probably benign Het
Gspt1 C T 16: 11,040,529 (GRCm39) R593H possibly damaging Het
Hmcn2 A T 2: 31,279,403 (GRCm39) T1802S possibly damaging Het
Igha A G 12: 113,223,129 (GRCm39) V166A probably benign Het
Itfg2 A G 6: 128,393,279 (GRCm39) probably benign Het
Jund T C 8: 71,152,254 (GRCm39) V183A probably damaging Het
Katnb1 T C 8: 95,824,132 (GRCm39) S471P possibly damaging Het
Kazn A G 4: 141,832,216 (GRCm39) F661S unknown Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Lgr5 C T 10: 115,288,590 (GRCm39) V661I probably benign Het
Lvrn G T 18: 47,026,768 (GRCm39) A789S probably damaging Het
Mapk10 T C 5: 103,111,391 (GRCm39) D351G probably damaging Het
Mga T A 2: 119,794,535 (GRCm39) C2622S possibly damaging Het
Mios T G 6: 8,214,857 (GRCm39) F18V probably damaging Het
Mllt6 A G 11: 97,565,285 (GRCm39) D575G probably damaging Het
Mmp10 G A 9: 7,508,190 (GRCm39) V439M probably damaging Het
Myh4 A G 11: 67,139,453 (GRCm39) D590G probably benign Het
Ndufs2 C T 1: 171,074,618 (GRCm39) G14R probably benign Het
Or10ad1b T A 15: 98,125,371 (GRCm39) I52F probably damaging Het
Or51a7 A T 7: 102,614,927 (GRCm39) M207L probably benign Het
Or56a4 T C 7: 104,806,514 (GRCm39) Y125C possibly damaging Het
Or8g26 A G 9: 39,096,367 (GRCm39) K298E probably damaging Het
Plau G T 14: 20,887,872 (GRCm39) V39L probably benign Het
Ppp3cb A G 14: 20,573,911 (GRCm39) C275R probably damaging Het
Ppp4r4 T G 12: 103,566,706 (GRCm39) M51R possibly damaging Het
Prr5 A G 15: 84,626,105 (GRCm39) Y60C probably damaging Het
Ptprt T C 2: 161,402,159 (GRCm39) D1023G probably damaging Het
Raly T A 2: 154,703,816 (GRCm39) V129E probably damaging Het
Rsph10b A G 5: 143,885,347 (GRCm39) E249G probably benign Het
Sart1 A C 19: 5,432,248 (GRCm39) L577W probably damaging Het
Senp1 T C 15: 97,964,729 (GRCm39) E189G possibly damaging Het
Slc22a2 G T 17: 12,803,316 (GRCm39) C50F probably damaging Het
Spem1 A T 11: 69,711,755 (GRCm39) V303E probably damaging Het
Tgfb3 A G 12: 86,124,588 (GRCm39) V40A possibly damaging Het
Ttl T C 2: 128,923,147 (GRCm39) S163P probably damaging Het
Ttll9 C A 2: 152,844,920 (GRCm39) N429K probably benign Het
Uggt1 G A 1: 36,241,936 (GRCm39) R333* probably null Het
Zfhx2 A G 14: 55,302,993 (GRCm39) S1664P possibly damaging Het
Zfp51 T A 17: 21,682,012 (GRCm39) D70E possibly damaging Het
Zfp592 T A 7: 80,691,607 (GRCm39) V1262E probably damaging Het
Zfp595 C A 13: 67,465,760 (GRCm39) G168C probably damaging Het
Zswim9 A T 7: 12,995,095 (GRCm39) S354T probably damaging Het
Other mutations in Depdc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Depdc1a APN 3 159,228,375 (GRCm39) nonsense probably null
IGL00581:Depdc1a APN 3 159,232,189 (GRCm39) missense probably benign 0.12
IGL00961:Depdc1a APN 3 159,229,451 (GRCm39) missense possibly damaging 0.79
IGL01530:Depdc1a APN 3 159,229,560 (GRCm39) missense probably damaging 1.00
IGL01567:Depdc1a APN 3 159,232,183 (GRCm39) missense probably damaging 1.00
IGL02320:Depdc1a APN 3 159,222,570 (GRCm39) missense probably damaging 0.99
IGL02622:Depdc1a APN 3 159,221,147 (GRCm39) missense probably benign 0.02
IGL02647:Depdc1a APN 3 159,228,503 (GRCm39) missense probably damaging 1.00
P0033:Depdc1a UTSW 3 159,221,778 (GRCm39) missense probably damaging 0.99
P4717OSA:Depdc1a UTSW 3 159,228,184 (GRCm39) missense probably damaging 1.00
P4748:Depdc1a UTSW 3 159,228,184 (GRCm39) missense probably damaging 1.00
R0220:Depdc1a UTSW 3 159,229,542 (GRCm39) missense probably benign 0.06
R0454:Depdc1a UTSW 3 159,222,537 (GRCm39) splice site probably null
R0479:Depdc1a UTSW 3 159,226,497 (GRCm39) missense probably damaging 1.00
R1317:Depdc1a UTSW 3 159,228,924 (GRCm39) missense probably damaging 1.00
R1452:Depdc1a UTSW 3 159,232,328 (GRCm39) missense possibly damaging 0.88
R1567:Depdc1a UTSW 3 159,228,177 (GRCm39) missense possibly damaging 0.86
R1669:Depdc1a UTSW 3 159,228,561 (GRCm39) missense probably benign 0.07
R1751:Depdc1a UTSW 3 159,228,924 (GRCm39) missense probably damaging 1.00
R2332:Depdc1a UTSW 3 159,229,503 (GRCm39) missense probably damaging 1.00
R4023:Depdc1a UTSW 3 159,221,786 (GRCm39) splice site probably null
R4254:Depdc1a UTSW 3 159,204,124 (GRCm39) missense probably damaging 0.99
R4551:Depdc1a UTSW 3 159,228,221 (GRCm39) missense probably damaging 1.00
R4780:Depdc1a UTSW 3 159,232,343 (GRCm39) missense probably benign 0.00
R4782:Depdc1a UTSW 3 159,232,273 (GRCm39) missense probably damaging 1.00
R4981:Depdc1a UTSW 3 159,229,550 (GRCm39) missense probably benign 0.14
R5100:Depdc1a UTSW 3 159,221,157 (GRCm39) missense probably benign 0.06
R5326:Depdc1a UTSW 3 159,232,286 (GRCm39) missense probably damaging 1.00
R5367:Depdc1a UTSW 3 159,229,591 (GRCm39) splice site probably null
R5892:Depdc1a UTSW 3 159,232,306 (GRCm39) missense probably damaging 1.00
R6314:Depdc1a UTSW 3 159,204,051 (GRCm39) missense probably damaging 1.00
R6467:Depdc1a UTSW 3 159,221,679 (GRCm39) missense probably benign 0.00
R6674:Depdc1a UTSW 3 159,232,344 (GRCm39) missense probably benign 0.00
R7061:Depdc1a UTSW 3 159,228,489 (GRCm39) missense possibly damaging 0.74
R7366:Depdc1a UTSW 3 159,228,849 (GRCm39) missense probably benign 0.00
R7531:Depdc1a UTSW 3 159,228,276 (GRCm39) missense probably damaging 1.00
R7886:Depdc1a UTSW 3 159,221,706 (GRCm39) missense probably benign 0.04
R7981:Depdc1a UTSW 3 159,226,488 (GRCm39) missense probably benign 0.00
R8335:Depdc1a UTSW 3 159,228,859 (GRCm39) missense probably damaging 1.00
R8488:Depdc1a UTSW 3 159,229,512 (GRCm39) missense probably damaging 0.96
R8560:Depdc1a UTSW 3 159,219,912 (GRCm39) missense probably damaging 1.00
R8725:Depdc1a UTSW 3 159,228,356 (GRCm39) missense probably benign 0.03
R8727:Depdc1a UTSW 3 159,228,356 (GRCm39) missense probably benign 0.03
R9096:Depdc1a UTSW 3 159,204,117 (GRCm39) missense probably benign 0.00
R9097:Depdc1a UTSW 3 159,204,117 (GRCm39) missense probably benign 0.00
R9360:Depdc1a UTSW 3 159,232,168 (GRCm39) missense possibly damaging 0.90
X0026:Depdc1a UTSW 3 159,204,268 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTTGCAAGTCATGTTCTTTTCCT -3'
(R):5'- ACATTTTGGATGTTTATCACTGCC -3'

Sequencing Primer
(F):5'- CTCTCTTTAGCCTGCAAAC -3'
(R):5'- GTCCTAGGAAAATGTTCTACT -3'
Posted On 2016-03-17