Incidental Mutation 'R0011:Mbd3l1'
ID262021
Institutional Source Beutler Lab
Gene Symbol Mbd3l1
Ensembl Gene ENSMUSG00000038691
Gene Namemethyl-CpG binding domain protein 3-like 1
SynonymsMbd3l, 1700070G05Rik, 1700095H13Rik
MMRRC Submission 038306-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0011 (G1)
Quality Score180
Status Not validated
Chromosome9
Chromosomal Location18478359-18485298 bp(+) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) A to G at 18484567 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069218] [ENSMUST00000213625] [ENSMUST00000215255]
Predicted Effect probably benign
Transcript: ENSMUST00000069218
SMART Domains Protein: ENSMUSP00000063957
Gene: ENSMUSG00000038691

DomainStartEndE-ValueType
Pfam:MBDa 3 74 8.5e-31 PFAM
Pfam:MBD_C 78 166 1.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213625
Predicted Effect probably benign
Transcript: ENSMUST00000215255
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,229,993 L389Q probably damaging Het
A930011G23Rik T C 5: 99,232,354 Y344C probably damaging Het
Alox15 A G 11: 70,349,596 V253A possibly damaging Het
Ank3 A G 10: 69,979,451 probably benign Het
Art3 T A 5: 92,403,612 Y17N probably damaging Het
Asic3 C T 5: 24,417,492 probably benign Het
Bach2 G T 4: 32,244,655 probably benign Het
Brip1 C A 11: 86,186,998 K201N possibly damaging Het
Casc1 T A 6: 145,179,055 M515L probably damaging Het
Ccdc88a T C 11: 29,374,364 F6S probably damaging Het
Celsr2 A G 3: 108,413,402 I698T probably benign Het
Cenpf A G 1: 189,650,706 S2664P probably benign Het
Cfap54 A T 10: 93,065,225 C156S probably damaging Het
Cops4 C A 5: 100,527,981 Q28K probably benign Het
Cyb5a T A 18: 84,877,822 probably benign Het
Diaph3 A T 14: 86,866,408 C847S probably damaging Het
Dnah3 T C 7: 120,019,701 K1648R probably damaging Het
Emilin2 C T 17: 71,273,868 G621E probably benign Het
Enpp1 T A 10: 24,670,002 K228* probably null Het
Epg5 T C 18: 77,948,483 C132R probably benign Het
Epha7 G A 4: 28,962,564 D961N probably benign Het
G6pc2 C A 2: 69,226,565 probably benign Het
Gm7361 C T 5: 26,258,878 probably benign Het
Grin2c T C 11: 115,255,750 Y476C probably damaging Het
Hnrnpul1 T G 7: 25,742,915 probably benign Het
Igf2bp1 T C 11: 96,005,584 D17G probably damaging Het
Insrr T C 3: 87,809,616 C688R possibly damaging Het
Itgb2l T C 16: 96,427,661 probably benign Het
Kidins220 T A 12: 24,999,352 V322E probably damaging Het
Klk1 C T 7: 44,229,535 T149I probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mrc1 T C 2: 14,261,337 probably null Het
Mtr T C 13: 12,238,052 probably benign Het
Ncoa6 TGC TGCGC 2: 155,408,291 probably null Het
Npy4r C T 14: 34,146,723 V203M probably damaging Het
Olfr965 T A 9: 39,719,627 N133K probably benign Het
Pik3r4 C A 9: 105,644,637 T134K probably benign Het
Rdh19 T A 10: 127,856,911 L149Q probably damaging Het
Sema3e C T 5: 14,144,011 R85* probably null Het
Shtn1 A G 19: 59,032,218 S191P possibly damaging Het
Slc39a11 A T 11: 113,247,833 F279L probably benign Het
Slc4a1 T C 11: 102,357,110 K353E possibly damaging Het
Slc6a18 A T 13: 73,665,619 M515K possibly damaging Het
Snapc4 A G 2: 26,364,813 I1225T probably benign Het
Spidr A T 16: 15,966,603 W534R probably benign Het
Tmem202 T A 9: 59,524,801 N81I probably benign Het
Tnfrsf1b T G 4: 145,222,966 R297S possibly damaging Het
Trim55 A G 3: 19,670,999 T227A probably benign Het
Trim58 A T 11: 58,643,120 T167S probably benign Het
Trp53i11 A T 2: 93,199,353 probably benign Het
Ttn T C 2: 76,810,355 H5356R probably damaging Het
Tyrp1 C T 4: 80,840,793 T301I probably damaging Het
Wdr17 A T 8: 54,672,501 I448K possibly damaging Het
Wscd1 T C 11: 71,788,828 V509A probably damaging Het
Zfp251 A G 15: 76,854,554 V108A probably benign Het
Other mutations in Mbd3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02130:Mbd3l1 APN 9 18484727 missense probably damaging 1.00
R0015:Mbd3l1 UTSW 9 18484858 missense probably benign 0.02
R1571:Mbd3l1 UTSW 9 18484651 missense probably damaging 1.00
R1737:Mbd3l1 UTSW 9 18484929 missense possibly damaging 0.46
R1762:Mbd3l1 UTSW 9 18485139 makesense probably null
R4981:Mbd3l1 UTSW 9 18484905 missense probably benign 0.00
R5171:Mbd3l1 UTSW 9 18485134 missense probably benign
R5244:Mbd3l1 UTSW 9 18484637 nonsense probably null
R6582:Mbd3l1 UTSW 9 18484728 missense probably benign 0.25
R7109:Mbd3l1 UTSW 9 18484914 missense possibly damaging 0.55
Predicted Primers
Posted On2015-02-04