Incidental Mutation 'R2862:Mum1l1'
ID253007
Institutional Source Beutler Lab
Gene Symbol Mum1l1
Ensembl Gene ENSMUSG00000042515
Gene Namemelanoma associated antigen (mutated) 1-like 1
Synonyms9430086K21Rik
MMRRC Submission 040452-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #R2862 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location139210042-139238335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 139236680 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 656 (G656S)
Ref Sequence ENSEMBL: ENSMUSP00000108668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113041] [ENSMUST00000113042] [ENSMUST00000113043] [ENSMUST00000113045] [ENSMUST00000166444] [ENSMUST00000169886] [ENSMUST00000170671]
Predicted Effect possibly damaging
Transcript: ENSMUST00000113041
AA Change: G656S

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108664
Gene: ENSMUSG00000042515
AA Change: G656S

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 possibly damaging
Transcript: ENSMUST00000113042
AA Change: G656S

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108665
Gene: ENSMUSG00000042515
AA Change: G656S

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 possibly damaging
Transcript: ENSMUST00000113043
AA Change: G656S

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108666
Gene: ENSMUSG00000042515
AA Change: G656S

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 possibly damaging
Transcript: ENSMUST00000113045
AA Change: G656S

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108668
Gene: ENSMUSG00000042515
AA Change: G656S

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 noncoding transcript
Transcript: ENSMUST00000126339
Predicted Effect probably benign
Transcript: ENSMUST00000166444
Predicted Effect probably benign
Transcript: ENSMUST00000169886
Predicted Effect probably benign
Transcript: ENSMUST00000170671
Meta Mutation Damage Score 0.0944 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik G A 5: 31,485,911 probably benign Het
Abca13 A G 11: 9,309,057 S2928G probably damaging Het
Abcd1 T A X: 73,737,458 L713H probably damaging Het
Actg1 T C 11: 120,346,801 I52V probably benign Het
Ahi1 T A 10: 20,981,408 V634E probably damaging Het
Ang G T 14: 51,101,818 D139Y probably damaging Het
Apoe T C 7: 19,697,554 Y46C probably damaging Het
Aqr A T 2: 114,136,917 V539D probably damaging Het
Btg3 A G 16: 78,364,980 V114A probably damaging Het
Cap1 A T 4: 122,864,725 S221T probably benign Het
Cdca2 T C 14: 67,698,090 E392G probably damaging Het
Col1a2 G A 6: 4,518,822 probably benign Het
Col22a1 A G 15: 71,815,943 probably null Het
Cyp2c38 G A 19: 39,460,694 R72W probably benign Het
Dnah1 C T 14: 31,284,762 G2199S probably benign Het
Dnhd1 A G 7: 105,712,559 E3608G probably benign Het
Ears2 A T 7: 122,062,940 L95Q probably damaging Het
F5 A T 1: 164,184,964 K482N probably damaging Het
Gata5 C T 2: 180,334,336 G12S possibly damaging Het
Gm11938 C A 11: 99,603,146 R41L probably damaging Het
Grap2 A T 15: 80,647,964 Q260L probably damaging Het
Greb1 A G 12: 16,711,745 S545P probably benign Het
Iglc1 T C 16: 19,061,910 probably benign Het
Il18r1 T C 1: 40,498,557 V494A possibly damaging Het
Kdf1 G A 4: 133,528,541 E190K probably damaging Het
Lama2 G A 10: 27,422,612 Q163* probably null Het
Lama3 G T 18: 12,453,750 L723F probably damaging Het
Lamp5 A T 2: 136,058,946 H22L probably benign Het
Maged1 G A X: 94,538,924 P366S probably damaging Het
Med14 A G X: 12,719,697 I521T probably benign Het
Mia2 A G 12: 59,154,410 K841E probably damaging Het
Mrgbp G A 2: 180,583,410 R53Q possibly damaging Het
Mrps18b G A 17: 35,910,854 S101L probably benign Het
Nmnat2 G A 1: 153,112,425 V267I probably benign Het
Noc2l A G 4: 156,237,450 D102G probably benign Het
Ntn1 T C 11: 68,385,864 E86G probably benign Het
Olfr1214 A T 2: 88,987,320 I294K probably benign Het
Olfr231 A G 1: 174,117,732 Y95H probably damaging Het
Olfr664 A G 7: 104,734,218 F49L probably benign Het
Olfr715b T A 7: 107,106,468 H131L probably benign Het
Opn4 A G 14: 34,593,828 probably null Het
Pate3 T A 9: 35,648,119 M1L possibly damaging Het
Pex2 A G 3: 5,561,180 Y190H probably damaging Het
Pkhd1l1 A C 15: 44,540,871 T2299P probably damaging Het
Ppp6r3 A C 19: 3,521,782 S122R possibly damaging Het
Rnf113a1 A G X: 37,192,083 E231G probably damaging Het
Rnf41 T C 10: 128,438,154 L225P possibly damaging Het
Rreb1 G C 13: 37,932,453 A1263P probably benign Het
Rxfp1 A G 3: 79,682,471 V121A possibly damaging Het
Slc35e4 A T 11: 3,912,796 V131D probably damaging Het
Smyd4 T A 11: 75,390,136 M145K probably benign Het
Snx13 T A 12: 35,138,117 I798N probably benign Het
Srgap3 A T 6: 112,722,972 F1015Y probably damaging Het
Synj1 T C 16: 90,969,329 Y567C probably damaging Het
Tbc1d8 G A 1: 39,402,696 Q272* probably null Het
Tinf2 T C 14: 55,680,631 D127G probably damaging Het
Ube2v1 G A 2: 167,617,965 P39L probably damaging Het
Vegfd A G X: 164,385,883 E57G probably damaging Het
Vmn2r72 A T 7: 85,750,836 I335N probably damaging Het
Zc3h6 A G 2: 129,015,460 H633R probably benign Het
Other mutations in Mum1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Mum1l1 APN X 139235694 missense probably damaging 1.00
IGL02866:Mum1l1 APN X 139235004 missense probably benign 0.25
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
R3853:Mum1l1 UTSW X 139236654 unclassified probably null
Predicted Primers PCR Primer
(F):5'- ATGCAAAGAGTTTCACACCCTG -3'
(R):5'- TTCGGCAAATACTTAGGCATTG -3'

Sequencing Primer
(F):5'- GAGTTTCACACCCTGTATTGAAACC -3'
(R):5'- ACTTAGGCATTGGGACTTTTAGAAG -3'
Posted On2014-12-04