Incidental Mutation 'IGL02866:Mum1l1'
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ID362335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mum1l1
Ensembl Gene ENSMUSG00000042515
Gene Namemelanoma associated antigen (mutated) 1-like 1
Synonyms9430086K21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02866
Quality Score
Status
ChromosomeX
Chromosomal Location139210042-139238335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 139235004 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000129943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113041] [ENSMUST00000113042] [ENSMUST00000113043] [ENSMUST00000113045] [ENSMUST00000166444] [ENSMUST00000169886] [ENSMUST00000170671]
Predicted Effect probably benign
Transcript: ENSMUST00000113041
AA Change: V97A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108664
Gene: ENSMUSG00000042515
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 195 205 N/A INTRINSIC
low complexity region 320 334 N/A INTRINSIC
low complexity region 341 363 N/A INTRINSIC
SCOP:d1khca_ 371 404 3e-3 SMART
PDB:3PMI|D 371 502 7e-58 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000113042
AA Change: V97A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108665
Gene: ENSMUSG00000042515
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 195 205 N/A INTRINSIC
low complexity region 320 334 N/A INTRINSIC
low complexity region 341 363 N/A INTRINSIC
SCOP:d1khca_ 371 404 3e-3 SMART
PDB:3PMI|D 371 502 7e-58 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000113043
AA Change: V97A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108666
Gene: ENSMUSG00000042515
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 195 205 N/A INTRINSIC
low complexity region 320 334 N/A INTRINSIC
low complexity region 341 363 N/A INTRINSIC
SCOP:d1khca_ 371 404 3e-3 SMART
PDB:3PMI|D 371 502 7e-58 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000113045
AA Change: V97A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108668
Gene: ENSMUSG00000042515
AA Change: V97A

DomainStartEndE-ValueType
low complexity region 195 205 N/A INTRINSIC
low complexity region 320 334 N/A INTRINSIC
low complexity region 341 363 N/A INTRINSIC
SCOP:d1khca_ 371 404 3e-3 SMART
PDB:3PMI|D 371 502 7e-58 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000166444
Predicted Effect probably benign
Transcript: ENSMUST00000169886
Predicted Effect probably benign
Transcript: ENSMUST00000170671
AA Change: V97A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,048,842 M1118L possibly damaging Het
Ckmt2 A T 13: 91,858,281 L315* probably null Het
Dusp28 T A 1: 92,907,656 I154N probably benign Het
Ect2l A T 10: 18,159,817 I420N probably damaging Het
Erap1 C A 13: 74,667,999 N82K probably damaging Het
Gsdma3 A G 11: 98,629,759 D72G possibly damaging Het
Hectd1 T A 12: 51,790,613 S720C probably damaging Het
Jakmip2 T G 18: 43,552,201 E674A probably benign Het
Kcnt2 T C 1: 140,425,248 S232P probably damaging Het
Kmo T C 1: 175,653,588 S291P probably damaging Het
Kpnb1 A G 11: 97,177,286 V286A probably damaging Het
Ldah T A 12: 8,238,602 V83D probably benign Het
Mrgprb5 T A 7: 48,168,166 I274F probably damaging Het
Mycbp2 A G 14: 103,129,992 I988T probably damaging Het
Myh3 A G 11: 67,089,023 E596G probably benign Het
Ndufs1 T C 1: 63,147,141 I52V probably benign Het
Nhsl1 G T 10: 18,527,607 D1363Y probably damaging Het
Olfr1450 A G 19: 12,954,355 I255M possibly damaging Het
Olfr295 T A 7: 86,585,693 C139* probably null Het
Olfr585 C A 7: 103,098,383 T214K probably damaging Het
Olfr798 A C 10: 129,625,706 Y118* probably null Het
Pcdhb19 T C 18: 37,499,110 S653P possibly damaging Het
Plcb3 A G 19: 6,957,676 L869P probably damaging Het
Prkdc T A 16: 15,831,327 F3722I probably damaging Het
Ptprd T C 4: 76,050,437 K206R probably damaging Het
Robo3 C A 9: 37,422,306 R703L possibly damaging Het
Tob1 A T 11: 94,214,057 M140L possibly damaging Het
Ubc A T 5: 125,387,422 D280E probably benign Het
Wasf3 C A 5: 146,468,321 Q364K probably benign Het
Other mutations in Mum1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Mum1l1 APN X 139235694 missense probably damaging 1.00
R0883:Mum1l1 UTSW X 139235695 missense probably damaging 1.00
R2860:Mum1l1 UTSW X 139236680 missense possibly damaging 0.78
R2861:Mum1l1 UTSW X 139236680 missense possibly damaging 0.78
R2862:Mum1l1 UTSW X 139236680 missense possibly damaging 0.78
R3853:Mum1l1 UTSW X 139236654 splice site probably null
Posted On2015-12-18