Incidental Mutation 'R5892:Depdc1a'
ID 457237
Institutional Source Beutler Lab
Gene Symbol Depdc1a
Ensembl Gene ENSMUSG00000028175
Gene Name DEP domain containing 1a
Synonyms 5830484J08Rik
MMRRC Submission 044093-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5892 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 159201070-159235592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 159232306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 686 (A686P)
Ref Sequence ENSEMBL: ENSMUSP00000113216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029825] [ENSMUST00000106041] [ENSMUST00000120272]
AlphaFold Q8CIG0
Predicted Effect probably damaging
Transcript: ENSMUST00000029825
AA Change: A686P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029825
Gene: ENSMUSG00000028175
AA Change: A686P

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: A409P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101656
Gene: ENSMUSG00000028175
AA Change: A409P

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 probably damaging
Transcript: ENSMUST00000120272
AA Change: A686P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113216
Gene: ENSMUSG00000028175
AA Change: A686P

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 0.4410 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik G T 5: 100,127,124 (GRCm39) probably benign Het
Abcb11 C T 2: 69,091,844 (GRCm39) A893T probably damaging Het
Adtrp A T 13: 41,981,682 (GRCm39) N30K probably benign Het
Alms1 T A 6: 85,597,885 (GRCm39) S904T probably damaging Het
Cep170 T A 1: 176,582,953 (GRCm39) probably null Het
Cntnap3 A G 13: 64,946,994 (GRCm39) V145A probably damaging Het
Dclre1a T C 19: 56,535,572 (GRCm39) E4G probably benign Het
Dnah7b T C 1: 46,376,753 (GRCm39) probably null Het
Enox1 A G 14: 77,723,457 (GRCm39) probably benign Het
Fam107b A G 2: 3,779,601 (GRCm39) E268G probably damaging Het
Fer1l6 A G 15: 58,435,917 (GRCm39) S437G probably benign Het
Flnb C A 14: 7,907,183 (GRCm38) T1252K probably damaging Het
Fubp1 A G 3: 151,923,951 (GRCm39) probably benign Het
Gm20402 G A 3: 52,176,370 (GRCm39) A50T probably benign Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gzmk C T 13: 113,310,456 (GRCm39) probably null Het
Ino80 A T 2: 119,270,028 (GRCm39) probably benign Het
Ints8 T C 4: 11,223,813 (GRCm39) T677A probably damaging Het
Kat6a A G 8: 23,428,305 (GRCm39) E1220G probably damaging Het
Lrfn5 A G 12: 61,890,204 (GRCm39) T498A probably damaging Het
Lrp2 T A 2: 69,273,120 (GRCm39) T4043S probably benign Het
Malrd1 A G 2: 15,619,078 (GRCm39) N314S probably benign Het
Mfsd1 A G 3: 67,497,162 (GRCm39) probably null Het
Muc1 C T 3: 89,138,300 (GRCm39) P381S probably benign Het
Myh2 A T 11: 67,076,002 (GRCm39) K730* probably null Het
Nat3 T A 8: 68,000,590 (GRCm39) N156K probably benign Het
Nelfe T C 17: 35,073,645 (GRCm39) probably benign Het
Nlrp1a A T 11: 70,990,471 (GRCm39) L927Q probably damaging Het
P4ha2 A G 11: 54,011,014 (GRCm39) Y343C probably damaging Het
Pclo A T 5: 14,571,185 (GRCm39) Q190L probably damaging Het
Pde8a A G 7: 80,945,439 (GRCm39) N183S probably damaging Het
Plekha2 C T 8: 25,542,381 (GRCm39) V278I probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Ppox C T 1: 171,105,034 (GRCm39) V385I probably damaging Het
Prdm16 T C 4: 154,407,716 (GRCm39) D1170G possibly damaging Het
Prmt5 A T 14: 54,747,368 (GRCm39) S470T probably damaging Het
Robo2 T A 16: 73,692,668 (GRCm39) probably benign Het
Siglecg G A 7: 43,061,628 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,949,810 (GRCm39) N367S probably damaging Het
Tex29 C T 8: 11,904,288 (GRCm39) probably benign Het
Tmem117 T A 15: 94,536,020 (GRCm39) V18E probably damaging Het
Tmtc2 C T 10: 105,249,366 (GRCm39) M122I probably benign Het
Tpr T A 1: 150,283,151 (GRCm39) N287K probably benign Het
Unc93b1 A T 19: 3,993,632 (GRCm39) D358V probably damaging Het
Vrk2 A T 11: 26,484,372 (GRCm39) probably benign Het
Wdr24 A T 17: 26,046,960 (GRCm39) Q671L probably benign Het
Zfp110 C T 7: 12,582,405 (GRCm39) T351I probably benign Het
Zfp963 T C 8: 70,196,027 (GRCm39) D142G probably benign 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
R4866:Depdc1a UTSW 3 159,221,764 (GRCm39) missense probably damaging 0.96
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
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'- TCTCTGTTAATGGAAGCTGTGAC -3'
(R):5'- CCAGGCTCCATACATTCCTG -3'

Sequencing Primer
(F):5'- TGACCCATTAGAATTTTGCTAACAC -3'
(R):5'- CCATACATTCCTGACTTTGAGAATGC -3'
Posted On 2017-02-15