Incidental Mutation 'IGL02859:Mul1'
ID 362087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mul1
Ensembl Gene ENSMUSG00000041241
Gene Name mitochondrial ubiquitin ligase activator of NFKB 1
Synonyms 0610009K11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02859
Quality Score
Status
Chromosome 4
Chromosomal Location 138161982-138169576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138165660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 106 (T106A)
Ref Sequence ENSEMBL: ENSMUSP00000101441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044058] [ENSMUST00000105813] [ENSMUST00000105815]
AlphaFold Q8VCM5
Predicted Effect probably damaging
Transcript: ENSMUST00000044058
AA Change: T106A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039604
Gene: ENSMUSG00000041241
AA Change: T106A

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Pfam:GIDE 96 256 7.6e-24 PFAM
low complexity region 264 287 N/A INTRINSIC
RING 302 339 9.03e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105813
AA Change: T101A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101439
Gene: ENSMUSG00000041241
AA Change: T101A

DomainStartEndE-ValueType
Pfam:GIDE 91 252 1e-26 PFAM
low complexity region 259 282 N/A INTRINSIC
RING 297 334 9.03e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105815
AA Change: T106A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101441
Gene: ENSMUSG00000041241
AA Change: T106A

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,818 (GRCm39) Y637F possibly damaging Het
Abcc4 A G 14: 118,753,912 (GRCm39) I1025T probably damaging Het
Adam22 C A 5: 8,217,375 (GRCm39) R140L probably damaging Het
Ahdc1 C A 4: 132,790,003 (GRCm39) L415I possibly damaging Het
Ahdc1 T A 4: 132,790,004 (GRCm39) L415H probably damaging Het
Bivm C A 1: 44,176,159 (GRCm39) S305* probably null Het
Clca4b C T 3: 144,617,800 (GRCm39) D768N probably benign Het
Cobl T A 11: 12,319,602 (GRCm39) N31Y probably damaging Het
Col4a5 G A X: 140,392,846 (GRCm39) C484Y unknown Het
Ctnnd1 T C 2: 84,450,253 (GRCm39) probably benign Het
Dnah5 A G 15: 28,383,771 (GRCm39) T2998A probably benign Het
Dnah9 T A 11: 65,772,445 (GRCm39) probably benign Het
F2 T C 2: 91,456,087 (GRCm39) D558G probably damaging Het
Gle1 T A 2: 29,839,240 (GRCm39) W511R probably damaging Het
Gm11564 C T 11: 99,705,953 (GRCm39) S159N unknown Het
Htr6 A G 4: 138,801,745 (GRCm39) C110R probably damaging Het
Ikbke T A 1: 131,197,934 (GRCm39) S391C probably damaging Het
Itgae T C 11: 73,005,693 (GRCm39) F286L probably damaging Het
Kcnb2 A T 1: 15,780,730 (GRCm39) H534L probably damaging Het
Map1b T C 13: 99,569,544 (GRCm39) Y1059C unknown Het
Nf2 T A 11: 4,741,209 (GRCm39) E249V probably damaging Het
Nlrp1a T C 11: 70,996,912 (GRCm39) S965G possibly damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Optc T C 1: 133,829,799 (GRCm39) T204A probably damaging Het
Or51f1d T C 7: 102,701,345 (GRCm39) V280A probably benign Het
Or8k37 T C 2: 86,469,992 (GRCm39) N20S probably benign Het
Pcnx2 C T 8: 126,589,912 (GRCm39) R787Q probably damaging Het
Pim1 G A 17: 29,710,909 (GRCm39) E171K probably damaging Het
Pnpt1 T C 11: 29,088,162 (GRCm39) V191A probably damaging Het
Rbbp8 G A 18: 11,871,671 (GRCm39) R796Q probably benign Het
Serpinb9e A G 13: 33,435,633 (GRCm39) D22G possibly damaging Het
Sit1 C T 4: 43,482,831 (GRCm39) M109I probably benign Het
Slc17a8 A G 10: 89,412,446 (GRCm39) V329A probably benign Het
Smg1 T A 7: 117,748,156 (GRCm39) probably benign Het
Snx7 T A 3: 117,623,320 (GRCm39) probably benign Het
Stat2 A T 10: 128,112,480 (GRCm39) E40V probably damaging Het
Vegfa C T 17: 46,335,421 (GRCm39) S291N probably benign Het
Vmn1r61 G T 7: 5,614,288 (GRCm39) L9I probably benign Het
Wbp4 T C 14: 79,708,129 (GRCm39) K163E probably damaging Het
Other mutations in Mul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Mul1 APN 4 138,165,628 (GRCm39) nonsense probably null
IGL01805:Mul1 APN 4 138,166,974 (GRCm39) missense possibly damaging 0.70
R0129:Mul1 UTSW 4 138,165,032 (GRCm39) splice site probably benign
R4538:Mul1 UTSW 4 138,165,706 (GRCm39) intron probably benign
R4573:Mul1 UTSW 4 138,163,660 (GRCm39) missense probably benign
R5118:Mul1 UTSW 4 138,166,660 (GRCm39) missense probably damaging 1.00
R5593:Mul1 UTSW 4 138,166,543 (GRCm39) missense probably damaging 1.00
R7764:Mul1 UTSW 4 138,162,080 (GRCm39) missense possibly damaging 0.51
R8891:Mul1 UTSW 4 138,162,164 (GRCm39) missense probably benign 0.10
R9082:Mul1 UTSW 4 138,166,945 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18