Incidental Mutation 'R5205:Majin'
ID 398485
Institutional Source Beutler Lab
Gene Symbol Majin
Ensembl Gene ENSMUSG00000024786
Gene Name membrane anchored junction protein
Synonyms 1700123I01Rik
MMRRC Submission 042780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5205 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6234418-6274255 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6245789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 27 (I27T)
Ref Sequence ENSEMBL: ENSMUSP00000109156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025699] [ENSMUST00000113528]
AlphaFold Q9D992
Predicted Effect possibly damaging
Transcript: ENSMUST00000025699
AA Change: I27T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025699
Gene: ENSMUSG00000024786
AA Change: I27T

DomainStartEndE-ValueType
Pfam:DUF4544 1 51 2.1e-36 PFAM
Pfam:DUF4544 49 110 2.1e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113528
AA Change: I27T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109156
Gene: ENSMUSG00000024786
AA Change: I27T

DomainStartEndE-ValueType
Pfam:DUF4544 1 240 1.5e-131 PFAM
Meta Mutation Damage Score 0.4827 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G A 18: 59,101,880 (GRCm39) R650Q probably damaging Het
Adgre4 G T 17: 56,101,727 (GRCm39) E216* probably null Het
Aldh6a1 T A 12: 84,486,418 (GRCm39) M167L probably damaging Het
Asb16 G A 11: 102,159,820 (GRCm39) D58N probably damaging Het
Cfap43 C A 19: 47,885,987 (GRCm39) L209F possibly damaging Het
Cfh A G 1: 140,071,708 (GRCm39) C327R probably damaging Het
Chd7 T A 4: 8,752,509 (GRCm39) N335K possibly damaging Het
Clca3a1 T C 3: 144,452,545 (GRCm39) E646G possibly damaging Het
Col6a6 A T 9: 105,659,232 (GRCm39) V571D probably damaging Het
Cttnbp2 T C 6: 18,427,432 (GRCm39) probably benign Het
Dennd1b T A 1: 138,982,306 (GRCm39) S132T probably benign Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnaaf2 C T 12: 69,239,698 (GRCm39) V608I probably damaging Het
Edem3 A T 1: 151,687,270 (GRCm39) D717V probably damaging Het
Fam135a T C 1: 24,068,592 (GRCm39) N589S probably benign Het
Gm13991 G C 2: 116,358,681 (GRCm39) noncoding transcript Het
Ighv2-3 T C 12: 113,574,895 (GRCm39) S87G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcna2 T C 3: 107,004,462 (GRCm39) probably benign Het
Klra4 T A 6: 130,039,080 (GRCm39) N104I probably damaging Het
Lrrc28 A G 7: 67,181,516 (GRCm39) S240P probably benign Het
Mfhas1 G A 8: 36,058,161 (GRCm39) E879K probably benign Het
Mif-ps6 A T 9: 14,756,768 (GRCm39) noncoding transcript Het
Msh4 A G 3: 153,572,049 (GRCm39) L583P probably damaging Het
Nrxn1 A T 17: 90,471,302 (GRCm39) N1234K probably damaging Het
Or5b120 T C 19: 13,480,163 (GRCm39) L152P probably damaging Het
Orm1 T C 4: 63,262,929 (GRCm39) I32T possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Plppr2 A T 9: 21,852,370 (GRCm39) T85S probably damaging Het
Ppp1r9b T A 11: 94,892,124 (GRCm39) W604R probably benign Het
Prorp T A 12: 55,351,226 (GRCm39) Y178* probably null Het
Prss56 G T 1: 87,113,256 (GRCm39) D195Y probably damaging Het
Psme4 T A 11: 30,782,666 (GRCm39) probably benign Het
Rbm25 T A 12: 83,719,643 (GRCm39) D554E probably benign Het
Rbm6 A G 9: 107,665,542 (GRCm39) M618T probably benign Het
Slc17a5 A G 9: 78,485,899 (GRCm39) V62A probably damaging Het
Slk T A 19: 47,613,899 (GRCm39) N918K possibly damaging Het
Syne1 C A 10: 5,002,295 (GRCm39) A8126S probably benign Het
Synj2 T C 17: 5,991,793 (GRCm39) L23S probably damaging Het
Taar2 A C 10: 23,816,874 (GRCm39) H138P probably benign Het
Taar7b A T 10: 23,875,916 (GRCm39) E27V probably benign Het
Tbc1d2b A G 9: 90,089,863 (GRCm39) Y889H probably damaging Het
Tmem43 T C 6: 91,463,763 (GRCm39) I346T possibly damaging Het
Ttc3 T A 16: 94,248,918 (GRCm39) C1139S probably benign Het
Txndc11 A G 16: 10,946,529 (GRCm39) V94A probably damaging Het
Ush2a T A 1: 188,607,133 (GRCm39) H4009Q probably benign Het
Wnk4 A G 11: 101,155,964 (GRCm39) E407G possibly damaging Het
Ybx1 G T 4: 119,136,348 (GRCm39) D261E probably damaging Het
Zfp985 A T 4: 147,667,368 (GRCm39) I79F 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
R5048:Majin UTSW 19 6,272,684 (GRCm39) missense probably benign 0.02
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'- CTTCATGGCCACTGATATTATGTTG -3'
(R):5'- CATAATGAATTCTAAGTCCCCGGG -3'

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