Incidental Mutation 'R4135:Dcaf12l1'
ID 314874
Institutional Source Beutler Lab
Gene Symbol Dcaf12l1
Ensembl Gene ENSMUSG00000045284
Gene Name DDB1 and CUL4 associated factor 12-like 1
Synonyms A230038L21Rik, Wdr40b
MMRRC Submission 040995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R4135 (G1)
Quality Score 222
Status 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: 98.7%
  • 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: 159,905,092 (GRCm39) probably benign Het
Bak1 T A 17: 27,240,244 (GRCm39) T148S possibly damaging Het
Cdc25a C A 9: 109,710,585 (GRCm39) H157Q possibly damaging Het
Chst5 T C 8: 112,616,816 (GRCm39) Y268C probably damaging Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Ctsr T C 13: 61,309,084 (GRCm39) T224A probably benign Het
Cux1 T C 5: 136,336,750 (GRCm39) K921E probably damaging Het
Dennd2d T A 3: 106,389,977 (GRCm39) D2E probably benign Het
Dock2 T C 11: 34,605,328 (GRCm39) K264E possibly damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign 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
Gm6987 T A X: 93,068,216 (GRCm39) noncoding transcript Het
Hbp1 A T 12: 31,984,421 (GRCm39) L262Q probably damaging Het
Hsd11b2 T C 8: 106,249,798 (GRCm39) V303A probably benign Het
Htr5a A G 5: 28,047,690 (GRCm39) M82V probably benign Het
Mcc T C 18: 44,857,707 (GRCm39) D136G probably benign Het
Mrpl32 C T 13: 14,787,564 (GRCm39) V14M probably damaging Het
Msl1 A G 11: 98,687,126 (GRCm39) D157G possibly damaging Het
Mthfd1 G A 12: 76,329,648 (GRCm39) probably null Het
Nkx6-1 T A 5: 101,807,371 (GRCm39) D337V probably damaging Het
Nlrp5 T C 7: 23,117,823 (GRCm39) W516R possibly damaging Het
Or2ag1 A G 7: 106,313,210 (GRCm39) L226P probably damaging Het
Or2l13b T A 16: 19,349,452 (GRCm39) I73F possibly damaging Het
Or2y3 A G 17: 38,393,248 (GRCm39) V207A possibly damaging Het
Or4l1 T C 14: 50,166,272 (GRCm39) H243R probably damaging Het
Or5af1 C A 11: 58,722,820 (GRCm39) T280K probably damaging Het
Pate5 A G 9: 35,750,724 (GRCm39) S33P possibly damaging Het
Pold3 T A 7: 99,749,854 (GRCm39) R104* probably null Het
Rapsn A T 2: 90,867,162 (GRCm39) N155Y probably damaging Het
Rorc C A 3: 94,296,826 (GRCm39) Q269K probably damaging Het
Rreb1 A T 13: 38,131,099 (GRCm39) N1418Y probably damaging Het
Rusc2 G A 4: 43,425,563 (GRCm39) D1223N possibly damaging Het
Sema6d T C 2: 124,506,040 (GRCm39) I616T probably damaging Het
Ttc6 T A 12: 57,679,581 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,338,810 (GRCm39) Y58F probably damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Vwa5b1 A T 4: 138,321,641 (GRCm39) M384K possibly damaging Het
Washc3 G A 10: 88,055,142 (GRCm39) E111K probably benign Het
Xirp2 A G 2: 67,355,741 (GRCm39) S3501G probably benign Het
Zfp1004 A T 2: 150,023,788 (GRCm39) probably benign Het
Zfp352 C T 4: 90,113,261 (GRCm39) T467M probably damaging 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
R4134: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'- AGGCTATTGGGGTTTTCACC -3'
(R):5'- TCCATGCTGCTGACCAAGAG -3'

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