Incidental Mutation 'R5171:Mbd3l1'
ID 398722
Institutional Source Beutler Lab
Gene Symbol Mbd3l1
Ensembl Gene ENSMUSG00000038691
Gene Name methyl-CpG binding domain protein 3-like 1
Synonyms 1700070G05Rik, Mbd3l, 1700095H13Rik
MMRRC Submission 042751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5171 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 18389655-18396594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18396430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 185 (N185S)
Ref Sequence ENSEMBL: ENSMUSP00000149425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069218] [ENSMUST00000213625] [ENSMUST00000215255]
AlphaFold Q9D9H3
Predicted Effect probably benign
Transcript: ENSMUST00000069218
AA Change: N185S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063957
Gene: ENSMUSG00000038691
AA Change: N185S

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
AA Change: N185S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215255
AA Change: N185S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,584 (GRCm39) Q269K probably benign Het
Acad9 T A 3: 36,128,547 (GRCm39) I136N possibly damaging Het
Adtrp A G 13: 41,931,039 (GRCm39) S183P probably damaging Het
Atp11b C T 3: 35,887,086 (GRCm39) T690I probably damaging Het
Bcl2l12 G A 7: 44,640,818 (GRCm39) probably benign Het
Btnl7-ps T A 17: 34,752,503 (GRCm39) noncoding transcript Het
Ccl12 T C 11: 81,993,460 (GRCm39) C33R probably damaging Het
Cdc25a T A 9: 109,706,229 (GRCm39) S57R probably benign Het
Coro2a T A 4: 46,542,372 (GRCm39) probably benign Het
Cpne6 T C 14: 55,749,605 (GRCm39) V55A possibly damaging Het
Ddn A G 15: 98,704,207 (GRCm39) S362P possibly damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Donson A G 16: 91,478,181 (GRCm39) V258A possibly damaging Het
Gm3336 G A 8: 71,174,524 (GRCm39) V163I probably benign Het
Gper1 C T 5: 139,412,413 (GRCm39) R253C probably damaging Het
Gpsm1 T A 2: 26,217,476 (GRCm39) probably benign Het
Hip1 A G 5: 135,469,156 (GRCm39) S251P probably damaging Het
Ifi214 A G 1: 173,354,200 (GRCm39) S157P possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kntc1 T C 5: 123,937,907 (GRCm39) V1535A probably benign Het
Mnx1 T C 5: 29,679,851 (GRCm39) Q252R unknown Het
Mroh3 A T 1: 136,119,394 (GRCm39) L463Q possibly damaging Het
Myom1 T C 17: 71,406,967 (GRCm39) V1030A possibly damaging Het
Or3a1d T C 11: 74,237,640 (GRCm39) T257A probably benign Het
Or5ak20 T C 2: 85,184,114 (GRCm39) D52G probably benign Het
Or5w1 T G 2: 87,486,888 (GRCm39) I126L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Ranbp17 A G 11: 33,167,419 (GRCm39) Y1015H probably benign Het
Rasal1 C T 5: 120,801,829 (GRCm39) T256I probably benign Het
Rexo5 T A 7: 119,423,002 (GRCm39) I278N probably damaging Het
Rims2 T A 15: 39,300,499 (GRCm39) S77T probably damaging Het
Sdk2 C T 11: 113,741,808 (GRCm39) A804T probably benign Het
Slc24a2 T A 4: 86,914,871 (GRCm39) I589F probably benign Het
Slc25a38 T A 9: 119,951,181 (GRCm39) I217K probably benign Het
Slc5a7 T C 17: 54,583,704 (GRCm39) T529A probably benign Het
Spata22 T A 11: 73,227,034 (GRCm39) S83T probably damaging Het
Spata31e4 A T 13: 50,854,414 (GRCm39) T91S possibly damaging Het
Stac2 A T 11: 97,934,324 (GRCm39) C127S possibly damaging Het
Tep1 T C 14: 51,062,259 (GRCm39) H2531R probably benign Het
Tmem151a G T 19: 5,132,061 (GRCm39) R382S probably damaging Het
Trim60 T C 8: 65,453,176 (GRCm39) T358A probably benign Het
Unc13c T A 9: 73,665,236 (GRCm39) M1048L probably benign Het
Usp29 T C 7: 6,965,074 (GRCm39) S306P probably damaging Het
Zfp26 T C 9: 20,356,203 (GRCm39) K35R probably benign Het
Zfp462 T A 4: 55,016,986 (GRCm39) probably null Het
Other mutations in Mbd3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02130:Mbd3l1 APN 9 18,396,023 (GRCm39) missense probably damaging 1.00
R0011:Mbd3l1 UTSW 9 18,395,863 (GRCm39) start gained probably benign
R0015:Mbd3l1 UTSW 9 18,396,154 (GRCm39) missense probably benign 0.02
R1571:Mbd3l1 UTSW 9 18,395,947 (GRCm39) missense probably damaging 1.00
R1737:Mbd3l1 UTSW 9 18,396,225 (GRCm39) missense possibly damaging 0.46
R1762:Mbd3l1 UTSW 9 18,396,435 (GRCm39) makesense probably null
R4981:Mbd3l1 UTSW 9 18,396,201 (GRCm39) missense probably benign 0.00
R5244:Mbd3l1 UTSW 9 18,395,933 (GRCm39) nonsense probably null
R6582:Mbd3l1 UTSW 9 18,396,024 (GRCm39) missense probably benign 0.25
R7109:Mbd3l1 UTSW 9 18,396,210 (GRCm39) missense possibly damaging 0.55
R7319:Mbd3l1 UTSW 9 18,396,417 (GRCm39) missense probably benign 0.00
R8308:Mbd3l1 UTSW 9 18,395,886 (GRCm39) missense probably benign 0.03
R8317:Mbd3l1 UTSW 9 18,396,117 (GRCm39) missense probably benign 0.01
R9487:Mbd3l1 UTSW 9 18,396,274 (GRCm39) missense probably benign 0.40
RF014:Mbd3l1 UTSW 9 18,396,296 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- TATGATTCCAGAAGCAGGCCC -3'
(R):5'- TCCTCAAGTGTTTTGTAGCTCTATG -3'

Sequencing Primer
(F):5'- AGCAGGCCCACAGATCCTTTG -3'
(R):5'- GTTGTGTTCAATCTTCAGTGTAAAG -3'
Posted On 2016-07-06