Incidental Mutation 'R2210:Majin'
ID 239339
Institutional Source Beutler Lab
Gene Symbol Majin
Ensembl Gene ENSMUSG00000024786
Gene Name membrane anchored junction protein
Synonyms 1700123I01Rik
MMRRC Submission 040212-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2210 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6234418-6274255 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6272728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 223 (H223N)
Ref Sequence ENSEMBL: ENSMUSP00000109156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025698] [ENSMUST00000025699] [ENSMUST00000113526] [ENSMUST00000113528]
AlphaFold Q9D992
Predicted Effect probably benign
Transcript: ENSMUST00000025698
SMART Domains Protein: ENSMUSP00000025698
Gene: ENSMUSG00000024784

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
Pfam:DAN 17 126 5.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025699
AA Change: H91N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000025699
Gene: ENSMUSG00000024786
AA Change: H91N

DomainStartEndE-ValueType
Pfam:DUF4544 1 51 2.1e-36 PFAM
Pfam:DUF4544 49 110 2.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113526
SMART Domains Protein: ENSMUSP00000109154
Gene: ENSMUSG00000024784

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
Pfam:DAN 16 123 1.9e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113528
AA Change: H223N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109156
Gene: ENSMUSG00000024786
AA Change: H223N

DomainStartEndE-ValueType
Pfam:DUF4544 1 240 1.5e-131 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik C G 5: 115,080,348 (GRCm39) R28G probably damaging Het
Adgrb1 C T 15: 74,419,553 (GRCm39) A798V probably damaging Het
Ash1l G T 3: 88,973,605 (GRCm39) D2555Y probably damaging Het
Atr G A 9: 95,789,353 (GRCm39) R1503Q probably damaging Het
Cbln3 T A 14: 56,121,383 (GRCm39) I88F possibly damaging Het
Cct7 G A 6: 85,436,212 (GRCm39) G41D probably damaging Het
Cd1d2 G T 3: 86,895,041 (GRCm39) A138S possibly damaging Het
Dct T C 14: 118,280,561 (GRCm39) I152V probably benign Het
Dgkq C A 5: 108,808,389 (GRCm39) R58L probably damaging Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Gm4884 A T 7: 40,692,970 (GRCm39) E313V possibly damaging Het
Hectd1 A T 12: 51,853,245 (GRCm39) I92K probably damaging Het
Icam1 A G 9: 20,930,329 (GRCm39) E61G probably damaging Het
Itgb2l C T 16: 96,227,421 (GRCm39) V541M possibly damaging Het
Lmtk2 A G 5: 144,084,427 (GRCm39) E154G probably damaging Het
Mc4r A T 18: 66,992,466 (GRCm39) F216I probably damaging Het
Muc4 AG AGG 16: 32,755,176 (GRCm38) probably null Het
Obscn A T 11: 58,958,913 (GRCm39) V3379D probably damaging Het
Or8g30 A T 9: 39,230,089 (GRCm39) S274T probably damaging Het
Pde4b A T 4: 102,454,672 (GRCm39) N346I probably damaging Het
Pitpnm1 T C 19: 4,155,253 (GRCm39) S331P probably damaging Het
Plcb2 T A 2: 118,547,984 (GRCm39) I437F probably damaging Het
Pramel14 T A 4: 143,720,789 (GRCm39) M51L probably benign Het
Prr12 A G 7: 44,698,775 (GRCm39) probably benign Het
Pus7l T G 15: 94,438,173 (GRCm39) D224A possibly damaging Het
Sh3pxd2a A G 19: 47,255,782 (GRCm39) S1007P possibly damaging Het
Stac G A 9: 111,431,638 (GRCm39) P238S probably damaging Het
Tmem107 A G 11: 68,962,096 (GRCm39) E45G possibly damaging Het
Tmt1b T A 10: 128,794,591 (GRCm39) K244N probably damaging Het
Triml2 T C 8: 43,636,397 (GRCm39) Y61H probably damaging Het
Uba2 T C 7: 33,862,587 (GRCm39) D95G probably damaging Het
Ube2d3 T A 3: 135,168,802 (GRCm39) D132E probably benign Het
Unc5d A G 8: 29,251,825 (GRCm39) I216T probably damaging Het
Other mutations in Majin
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0426:Majin UTSW 19 6,262,147 (GRCm39) splice site probably benign
R2036:Majin UTSW 19 6,263,342 (GRCm39) missense probably benign 0.06
R5048:Majin UTSW 19 6,272,684 (GRCm39) missense probably benign 0.02
R5205:Majin UTSW 19 6,245,789 (GRCm39) missense possibly damaging 0.52
R8864:Majin UTSW 19 6,261,650 (GRCm39) missense possibly damaging 0.51
R9025:Majin UTSW 19 6,263,427 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCTGACTTTGAAAATATGCCAAGG -3'
(R):5'- ACGACTGAGAAGCTACAGTG -3'

Sequencing Primer
(F):5'- CCAAGGTCAGAATAGAACTTTGCTG -3'
(R):5'- GTGAAGAACCCCCTTCTCTAG -3'
Posted On 2014-10-15