Incidental Mutation 'R6582:Mbd3l1'
ID 524168
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 044706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 18389655-18396594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18396024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 50 (Y50H)
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: Y50H

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000063957
Gene: ENSMUSG00000038691
AA Change: Y50H

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: Y50H

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000215255
AA Change: Y50H

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging 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
R5171:Mbd3l1 UTSW 9 18,396,430 (GRCm39) missense probably benign
R5244:Mbd3l1 UTSW 9 18,395,933 (GRCm39) nonsense probably null
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'- AGGCAGCCTTCTATCACATTG -3'
(R):5'- ACGGATGTGATGTCAATGCTGG -3'

Sequencing Primer
(F):5'- ATTTCATGACTTATGCTTATAGGGC -3'
(R):5'- ATGTCAATGCTGGTGGCTTGAG -3'
Posted On 2018-06-22