Incidental Mutation 'IGL01805:Mul1'
ID155646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mul1
Ensembl Gene ENSMUSG00000041241
Gene Namemitochondrial ubiquitin ligase activator of NFKB 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01805
Quality Score
Status
Chromosome4
Chromosomal Location138434671-138442265 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 138439663 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 343 (P343S)
Ref Sequence ENSEMBL: ENSMUSP00000101439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044058] [ENSMUST00000105813] [ENSMUST00000105815]
Predicted Effect probably benign
Transcript: ENSMUST00000044058
AA Change: P348S

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039604
Gene: ENSMUSG00000041241
AA Change: P348S

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 possibly damaging
Transcript: ENSMUST00000105813
AA Change: P343S

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101439
Gene: ENSMUSG00000041241
AA Change: P343S

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 benign
Transcript: ENSMUST00000105815
SMART Domains Protein: ENSMUSP00000101441
Gene: ENSMUSG00000041241

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,925,518 D17G possibly damaging Het
Adam28 G T 14: 68,642,091 S169R probably benign Het
Aox1 T C 1: 58,081,513 M855T possibly damaging Het
Apc C A 18: 34,318,218 N2688K probably benign Het
Arhgap23 T A 11: 97,492,602 probably benign Het
Bpifa6 A G 2: 153,984,912 T66A probably benign Het
C1qtnf1 T A 11: 118,448,167 L221Q probably damaging Het
Ccdc175 T A 12: 72,129,229 probably benign Het
Ccl1 C A 11: 82,178,132 M26I possibly damaging Het
D17Wsu92e C T 17: 27,767,906 probably benign Het
Dnah10 T A 5: 124,783,921 F2123I probably damaging Het
Dpcr1 T A 17: 35,637,643 T355S possibly damaging Het
Fancm T C 12: 65,113,861 probably null Het
Fstl4 C A 11: 53,186,357 A647E probably damaging Het
Hmgb4 G T 4: 128,260,222 probably benign Het
Hr A T 14: 70,565,297 probably benign Het
Kcna4 G T 2: 107,296,498 V526L probably damaging Het
Mas1 T C 17: 12,842,230 Y102C probably damaging Het
Obscn T C 11: 59,132,596 S652G probably damaging Het
Olfr972 T C 9: 39,873,779 F168S probably damaging Het
Pjvk A T 2: 76,657,514 N250I probably benign Het
Pkd2 T C 5: 104,483,093 I461T probably benign Het
Psen2 T C 1: 180,229,838 probably null Het
Ralb T C 1: 119,475,995 E81G probably benign Het
Slc15a4 T C 5: 127,608,836 T261A possibly damaging Het
Vmn2r77 G A 7: 86,811,187 V574M probably benign Het
Xrn2 A G 2: 147,028,143 I251V probably damaging Het
Zfp974 G A 7: 27,912,264 probably benign Het
Other mutations in Mul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Mul1 APN 4 138438317 nonsense probably null
IGL02859:Mul1 APN 4 138438349 missense probably damaging 1.00
R0129:Mul1 UTSW 4 138437721 splice site probably benign
R4538:Mul1 UTSW 4 138438395 intron probably benign
R4573:Mul1 UTSW 4 138436349 missense probably benign
R5118:Mul1 UTSW 4 138439349 missense probably damaging 1.00
R5593:Mul1 UTSW 4 138439232 missense probably damaging 1.00
R7764:Mul1 UTSW 4 138434769 missense possibly damaging 0.51
R8891:Mul1 UTSW 4 138434853 missense probably benign 0.10
Posted On2014-02-04