Incidental Mutation 'R4135:Dcaf12l1'
ID314874
Institutional Source Beutler Lab
Gene Symbol Dcaf12l1
Ensembl Gene ENSMUSG00000045284
Gene NameDDB1 and CUL4 associated factor 12-like 1
SynonymsA230038L21Rik, Wdr40b
MMRRC Submission 040995-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #R4135 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location44786570-44790197 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44789453 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 156 (N156S)
Ref Sequence ENSEMBL: ENSMUSP00000110708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060481] [ENSMUST00000115056]
Predicted Effect probably damaging
Transcript: ENSMUST00000060481
AA Change: N156S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062991
Gene: ENSMUSG00000045284
AA Change: N156S

DomainStartEndE-ValueType
low complexity region 119 132 N/A INTRINSIC
Blast:WD40 133 162 7e-12 BLAST
Blast:WD40 170 216 4e-18 BLAST
WD40 221 259 4.51e-7 SMART
WD40 289 328 2.57e0 SMART
low complexity region 330 341 N/A INTRINSIC
Blast:WD40 342 371 5e-6 BLAST
WD40 378 414 1.7e2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115056
AA Change: N156S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110708
Gene: ENSMUSG00000045284
AA Change: N156S

DomainStartEndE-ValueType
low complexity region 119 132 N/A INTRINSIC
Blast:WD40 133 162 7e-12 BLAST
Blast:WD40 170 216 4e-18 BLAST
WD40 221 259 4.51e-7 SMART
WD40 289 328 2.57e0 SMART
low complexity region 330 341 N/A INTRINSIC
Blast:WD40 342 371 5e-6 BLAST
WD40 378 414 1.7e2 SMART
Meta Mutation Damage Score 0.3034 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 160,077,522 probably benign Het
9230110F15Rik A G 9: 35,839,428 S33P possibly damaging Het
Bak1 T A 17: 27,021,270 T148S possibly damaging Het
Cdc25a C A 9: 109,881,517 H157Q possibly damaging Het
Chst5 T C 8: 111,890,184 Y268C probably damaging Het
Csnk1g2 T C 10: 80,638,296 I145T possibly damaging Het
Ctsr T C 13: 61,161,270 T224A probably benign Het
Cux1 T C 5: 136,307,896 K921E probably damaging Het
Dennd2d T A 3: 106,482,661 D2E probably benign Het
Dock2 T C 11: 34,714,501 K264E possibly damaging Het
Eif3c C G 7: 126,566,299 probably benign Het
Gabrb3 G T 7: 57,591,288 A5S probably benign Het
Gcnt2 T A 13: 40,887,807 N147K probably damaging Het
Gm14139 A T 2: 150,181,868 probably benign Het
Gm6987 T A X: 94,024,610 noncoding transcript Het
Hbp1 A T 12: 31,934,422 L262Q probably damaging Het
Hsd11b2 T C 8: 105,523,166 V303A probably benign Het
Htr5a A G 5: 27,842,692 M82V probably benign Het
Mcc T C 18: 44,724,640 D136G probably benign Het
Mrpl32 C T 13: 14,612,979 V14M probably damaging Het
Msl1 A G 11: 98,796,300 D157G possibly damaging Het
Mthfd1 G A 12: 76,282,874 probably null Het
Nkx6-1 T A 5: 101,659,505 D337V probably damaging Het
Nlrp5 T C 7: 23,418,398 W516R possibly damaging Het
Olfr131 A G 17: 38,082,357 V207A possibly damaging Het
Olfr168 T A 16: 19,530,702 I73F possibly damaging Het
Olfr312 C A 11: 58,831,994 T280K probably damaging Het
Olfr705 A G 7: 106,714,003 L226P probably damaging Het
Olfr723 T C 14: 49,928,815 H243R probably damaging Het
Pold3 T A 7: 100,100,647 R104* probably null Het
Rapsn A T 2: 91,036,817 N155Y probably damaging Het
Rorc C A 3: 94,389,519 Q269K probably damaging Het
Rreb1 A T 13: 37,947,123 N1418Y probably damaging Het
Rusc2 G A 4: 43,425,563 D1223N possibly damaging Het
Sema6d T C 2: 124,664,120 I616T probably damaging Het
Ttc6 T A 12: 57,632,795 probably benign Het
Ugt3a2 A T 15: 9,338,724 Y58F probably damaging Het
Vmn2r-ps159 T G 4: 156,338,790 noncoding transcript Het
Vwa5b1 A T 4: 138,594,330 M384K possibly damaging Het
Washc3 G A 10: 88,219,280 E111K probably benign Het
Xirp2 A G 2: 67,525,397 S3501G probably benign Het
Zfp352 C T 4: 90,225,024 T467M probably damaging Het
Zfp729a C A 13: 67,619,806 C768F probably damaging Het
Zfp810 T C 9: 22,279,073 K180E probably damaging Het
Other mutations in Dcaf12l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1449:Dcaf12l1 UTSW X 44789427 missense probably benign 0.38
R3792:Dcaf12l1 UTSW X 44788436 missense possibly damaging 0.57
R4134:Dcaf12l1 UTSW X 44789453 missense probably damaging 1.00
Z1176:Dcaf12l1 UTSW X 44789897 missense probably benign 0.09
Z1177:Dcaf12l1 UTSW X 44788824 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGCTATTGGGGTTTTCACC -3'
(R):5'- TCCATGCTGCTGACCAAGAG -3'

Sequencing Primer
(F):5'- TTCACCTCCAGTTGCCAAGAGG -3'
(R):5'- TGAACTACCTGAAGGGCCG -3'
Posted On2015-05-14