Incidental Mutation 'R4134:Dcaf12l1'
ID 314826
Institutional Source Beutler Lab
Gene Symbol Dcaf12l1
Ensembl Gene ENSMUSG00000045284
Gene Name DDB1 and CUL4 associated factor 12-like 1
Synonyms A230038L21Rik, Wdr40b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R4134 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 43875447-43879074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43878330 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8CBW4
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: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ces1g T C 8: 94,046,500 (GRCm39) T342A probably benign Het
Clip2 A G 5: 134,521,107 (GRCm39) V977A probably benign Het
Cnot11 T C 1: 39,576,629 (GRCm39) V211A probably benign Het
Dennd2d T A 3: 106,389,977 (GRCm39) D2E probably benign Het
F2 T C 2: 91,459,553 (GRCm39) D410G possibly damaging Het
Gabrb3 G T 7: 57,241,036 (GRCm39) A5S probably benign Het
Gcnt2 T A 13: 41,041,283 (GRCm39) N147K probably damaging Het
Greb1l T C 18: 10,529,708 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,430 (GRCm39) W38R probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspg2 A T 4: 137,283,968 (GRCm39) Q3446L probably damaging Het
Htr5a A G 5: 28,047,690 (GRCm39) M82V probably benign Het
Itgb4 G T 11: 115,897,296 (GRCm39) G1454V probably benign Het
Lrrc9 T C 12: 72,513,740 (GRCm39) S534P probably benign Het
Nkx6-1 T A 5: 101,807,371 (GRCm39) D337V probably damaging Het
Npm2 C T 14: 70,885,822 (GRCm39) E128K possibly damaging Het
Nyap2 A G 1: 81,218,908 (GRCm39) D310G probably damaging Het
Or2l13b T A 16: 19,349,452 (GRCm39) I73F possibly damaging Het
Or4l1 T C 14: 50,166,272 (GRCm39) H243R probably damaging Het
Pum1 A T 4: 130,491,380 (GRCm39) I770F probably damaging Het
Rreb1 A T 13: 38,131,099 (GRCm39) N1418Y probably damaging Het
Syt9 A G 7: 107,035,630 (GRCm39) S216G probably benign Het
Tep1 G A 14: 51,082,317 (GRCm39) H1120Y probably benign Het
Ttn T A 2: 76,715,138 (GRCm39) probably benign Het
Vmn1r8 A G 6: 57,013,705 (GRCm39) D252G probably benign Het
Vwa5b1 A T 4: 138,321,641 (GRCm39) M384K possibly damaging Het
Zfhx2 G A 14: 55,302,600 (GRCm39) P1795S possibly damaging Het
Zfhx4 T C 3: 5,308,687 (GRCm39) S638P probably damaging Het
Zfp677 A G 17: 21,618,043 (GRCm39) T367A probably benign Het
Zfp729a C A 13: 67,767,925 (GRCm39) C768F probably damaging Het
Zfp810 T C 9: 22,190,369 (GRCm39) K180E probably damaging Het
Other mutations in Dcaf12l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1449:Dcaf12l1 UTSW X 43,878,304 (GRCm39) missense probably benign 0.38
R3792:Dcaf12l1 UTSW X 43,877,313 (GRCm39) missense possibly damaging 0.57
R4135:Dcaf12l1 UTSW X 43,878,330 (GRCm39) missense probably damaging 1.00
Z1176:Dcaf12l1 UTSW X 43,878,774 (GRCm39) missense probably benign 0.09
Z1177:Dcaf12l1 UTSW X 43,877,701 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTAGACTGCCAGGCTATTG -3'
(R):5'- TCCATGCTGCTGACCAAGAG -3'

Sequencing Primer
(F):5'- CCAGGCTATTGGGGTTTTCACC -3'
(R):5'- TGAACTACCTGAAGGGCCG -3'
Posted On 2015-05-14