Incidental Mutation 'R5048:Majin'
ID 452837
Institutional Source Beutler Lab
Gene Symbol Majin
Ensembl Gene ENSMUSG00000024786
Gene Name membrane anchored junction protein
Synonyms 1700123I01Rik
MMRRC Submission 042638-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5048 (G1)
Quality Score 39
Status Validated
Chromosome 19
Chromosomal Location 6234418-6274255 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6272684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 208 (A208E)
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: A76E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025699
Gene: ENSMUSG00000024786
AA Change: A76E

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 probably benign
Transcript: ENSMUST00000113528
AA Change: A208E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109156
Gene: ENSMUSG00000024786
AA Change: A208E

DomainStartEndE-ValueType
Pfam:DUF4544 1 240 1.5e-131 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.1%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,138,850 (GRCm39) I144V probably benign Het
Abhd5 T C 9: 122,206,968 (GRCm39) Y85H probably damaging Het
Acadsb G A 7: 131,039,198 (GRCm39) G323D probably damaging Het
Amotl2 A G 9: 102,600,997 (GRCm39) R322G probably benign Het
Aox1 A T 1: 58,098,641 (GRCm39) probably benign Het
Aste1 C T 9: 105,274,188 (GRCm39) R82W probably damaging Het
Atg4b T C 1: 93,703,380 (GRCm39) I139T possibly damaging Het
Btnl5-ps T A 17: 34,707,697 (GRCm39) noncoding transcript Het
Ccdc85c A G 12: 108,187,966 (GRCm39) probably null Het
Clasp1 A G 1: 118,475,340 (GRCm39) probably benign Het
Defb10 G A 8: 22,351,887 (GRCm39) C44Y probably damaging Het
Dhrs9 T C 2: 69,224,744 (GRCm39) V144A probably damaging Het
Dnhd1 G C 7: 105,342,904 (GRCm39) S1416T probably benign Het
Dok1 T A 6: 83,009,087 (GRCm39) probably benign Het
Emilin2 G A 17: 71,580,962 (GRCm39) T588M probably damaging Het
Fam181b A G 7: 92,729,147 (GRCm39) probably benign Het
Fhad1 T C 4: 141,691,987 (GRCm39) probably null Het
Foxi2 A G 7: 135,013,364 (GRCm39) E198G probably damaging Het
Fsip2 C A 2: 82,823,494 (GRCm39) A6409E probably damaging Het
Gje1 T C 10: 14,593,021 (GRCm39) Y65C probably damaging Het
Gm6401 T C 14: 41,789,724 (GRCm39) probably null Het
Gprc5c T C 11: 114,761,177 (GRCm39) *442Q probably null Het
Iars1 T A 13: 49,841,713 (GRCm39) I67N probably damaging Het
Igkv4-79 T C 6: 69,019,971 (GRCm39) S115G probably benign Het
Itga4 C A 2: 79,103,378 (GRCm39) S156R probably benign Het
Lilra6 C T 7: 3,918,440 (GRCm39) probably null Het
Megf8 A G 7: 25,030,517 (GRCm39) Q490R possibly damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mgarp G A 3: 51,298,707 (GRCm39) R88C probably damaging Het
Msh2 T C 17: 87,980,196 (GRCm39) F58S probably damaging Het
Nemp1 T C 10: 127,526,804 (GRCm39) probably null Het
Nlrp10 A T 7: 108,523,772 (GRCm39) N569K probably benign Het
Nxpe2 T C 9: 48,237,388 (GRCm39) probably null Het
Or4c106 T C 2: 88,682,807 (GRCm39) V171A possibly damaging Het
Or5w16 C A 2: 87,576,663 (GRCm39) A41E probably benign Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pigb T A 9: 72,936,990 (GRCm39) probably null Het
Pitpnb T C 5: 111,530,869 (GRCm39) F221L possibly damaging Het
Prox2 A T 12: 85,141,115 (GRCm39) W363R probably damaging Het
Psmg1 T A 16: 95,785,171 (GRCm39) R139S probably benign Het
Rab11fip3 A G 17: 26,286,554 (GRCm39) probably null Het
Samd9l G A 6: 3,374,157 (GRCm39) R1035C probably benign Het
Shkbp1 G A 7: 27,051,521 (GRCm39) probably benign Het
Slc30a5 C A 13: 100,943,249 (GRCm39) L536F probably damaging Het
Slc6a17 A T 3: 107,378,753 (GRCm39) L643* probably null Het
Slit3 T C 11: 35,479,812 (GRCm39) Y330H probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stoml3 A C 3: 53,408,213 (GRCm39) K86N possibly damaging Het
Tmtc1 A T 6: 148,139,344 (GRCm39) L926Q possibly damaging Het
Tns4 T G 11: 98,969,605 (GRCm39) R285S possibly damaging Het
Uncx C T 5: 139,532,874 (GRCm39) T313M probably benign Het
Vmn2r75 G A 7: 85,814,735 (GRCm39) R253C possibly damaging Het
Zbed6 T C 1: 133,586,462 (GRCm39) S292G probably damaging Het
Zfp143 A G 7: 109,673,325 (GRCm39) T142A probably damaging Het
Zfp287 T C 11: 62,605,777 (GRCm39) K366E 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
R2210:Majin UTSW 19 6,272,728 (GRCm39) missense possibly damaging 0.85
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'- GGTCAGAATAGAACTTTGCTGAGC -3'
(R):5'- CTTTTGACTCAGGGCCTTGC -3'

Sequencing Primer
(F):5'- CTTTGCTGAGCAGAGATGAAATTG -3'
(R):5'- CTTTGATACGACTGAGAAGCTACAG -3'
Posted On 2017-01-17