Incidental Mutation 'IGL00902:Mpeg1'
ID29487
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpeg1
Ensembl Gene ENSMUSG00000046805
Gene Namemacrophage expressed gene 1
SynonymsMPS1, Mpg-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL00902
Quality Score
Status
Chromosome19
Chromosomal Location12460779-12465284 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 12461769 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 197 (A197D)
Ref Sequence ENSEMBL: ENSMUSP00000108573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045521] [ENSMUST00000081035]
Predicted Effect probably benign
Transcript: ENSMUST00000045521
SMART Domains Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982

DomainStartEndE-ValueType
WWE 5 86 1.38e-38 SMART
WWE 88 163 6.72e-28 SMART
low complexity region 175 192 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
RING 406 464 2.2e-6 SMART
Blast:RING 510 532 3e-7 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000081035
AA Change: A197D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: A197D

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
MACPF 151 350 2.13e-58 SMART
transmembrane domain 661 683 N/A INTRINSIC
low complexity region 685 698 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 37,041,345 G1001D probably damaging Het
Adamts7 T G 9: 90,188,794 probably null Het
Akap11 A G 14: 78,495,838 S1876P probably benign Het
Capn10 A G 1: 92,942,559 I256V probably benign Het
Catsperg2 T A 7: 29,701,143 H262L possibly damaging Het
Col22a1 C A 15: 71,964,659 G509V probably damaging Het
Dab2ip T C 2: 35,717,112 F523S probably damaging Het
Dbnl G T 11: 5,798,105 A313S probably benign Het
Ddo T C 10: 40,647,554 V180A probably damaging Het
Enox1 A G 14: 77,582,404 M200V possibly damaging Het
Fabp6 G A 11: 43,598,716 R33C probably damaging Het
Gm9104 T C 17: 45,466,014 probably benign Het
Gspt1 C T 16: 11,232,579 V303I probably damaging Het
Igf2r C T 17: 12,700,358 C1469Y probably damaging Het
Igflr1 T C 7: 30,567,275 S183P possibly damaging Het
Itga6 T C 2: 71,849,394 V1001A probably benign Het
Itih1 G A 14: 30,932,482 probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lrp5 T C 19: 3,600,774 N1220S probably damaging Het
March6 A G 15: 31,484,978 Y434H probably damaging Het
Mbd1 A G 18: 74,275,239 Y211C possibly damaging Het
Mroh2b T A 15: 4,915,222 L435Q probably damaging Het
Mss51 A C 14: 20,486,167 M160R probably damaging Het
Ndufs7 T G 10: 80,256,005 Y190* probably null Het
Olfr1015 T C 2: 85,786,117 M202T probably benign Het
Olfr768 T A 10: 129,093,396 I193L probably benign Het
Pcdh17 A G 14: 84,446,849 E252G probably damaging Het
Ric1 T C 19: 29,567,231 V151A probably benign Het
Sgo2a A G 1: 58,016,099 T481A probably benign Het
Slc5a8 A G 10: 88,919,461 T477A probably benign Het
Smg5 G A 3: 88,353,085 V661I probably benign Het
Snx19 A T 9: 30,428,732 I389F possibly damaging Het
Spem1 A T 11: 69,821,817 I64N probably damaging Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Thada A T 17: 84,447,976 M262K probably damaging Het
Uox A G 3: 146,610,406 D32G possibly damaging Het
Usp42 A T 5: 143,719,874 probably benign Het
Usp43 G A 11: 67,891,419 P391L probably benign Het
Vmn2r56 T C 7: 12,715,499 S271G probably benign Het
Wdr64 T A 1: 175,728,825 C213S probably damaging Het
Zfp26 A T 9: 20,439,548 S194T possibly damaging Het
Other mutations in Mpeg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Mpeg1 APN 19 12462710 missense probably benign 0.39
IGL01141:Mpeg1 APN 19 12462785 missense probably damaging 1.00
IGL02037:Mpeg1 APN 19 12463296 missense probably benign 0.04
IGL02447:Mpeg1 APN 19 12462792 missense probably damaging 1.00
IGL02448:Mpeg1 APN 19 12462609 missense probably benign
IGL02510:Mpeg1 APN 19 12461424 missense probably damaging 1.00
IGL03068:Mpeg1 APN 19 12462206 missense probably benign 0.01
R0128:Mpeg1 UTSW 19 12461223 missense probably benign 0.00
R0310:Mpeg1 UTSW 19 12461691 missense probably benign 0.00
R0312:Mpeg1 UTSW 19 12462403 missense probably damaging 1.00
R0522:Mpeg1 UTSW 19 12461759 missense probably damaging 0.99
R1356:Mpeg1 UTSW 19 12461325 missense probably damaging 0.98
R1396:Mpeg1 UTSW 19 12462804 missense probably damaging 1.00
R1436:Mpeg1 UTSW 19 12462459 missense probably damaging 0.98
R1497:Mpeg1 UTSW 19 12461247 missense probably benign 0.04
R1714:Mpeg1 UTSW 19 12462834 missense probably damaging 1.00
R1846:Mpeg1 UTSW 19 12463122 missense probably benign 0.00
R1856:Mpeg1 UTSW 19 12462356 missense probably benign 0.04
R1933:Mpeg1 UTSW 19 12462647 nonsense probably null
R1959:Mpeg1 UTSW 19 12462911 missense probably damaging 1.00
R1960:Mpeg1 UTSW 19 12462911 missense probably damaging 1.00
R1961:Mpeg1 UTSW 19 12462911 missense probably damaging 1.00
R2240:Mpeg1 UTSW 19 12463038 missense probably damaging 0.98
R2474:Mpeg1 UTSW 19 12462249 missense probably damaging 1.00
R3430:Mpeg1 UTSW 19 12463128 missense probably benign 0.22
R4079:Mpeg1 UTSW 19 12462270 missense probably damaging 0.99
R4245:Mpeg1 UTSW 19 12462908 missense probably damaging 0.99
R4451:Mpeg1 UTSW 19 12463232 nonsense probably null
R4888:Mpeg1 UTSW 19 12463070 missense probably damaging 1.00
R4980:Mpeg1 UTSW 19 12461540 missense probably damaging 1.00
R5071:Mpeg1 UTSW 19 12461181 start codon destroyed probably null 0.02
R5089:Mpeg1 UTSW 19 12462997 missense probably benign 0.00
R5120:Mpeg1 UTSW 19 12461429 nonsense probably null
R5327:Mpeg1 UTSW 19 12461649 missense probably damaging 1.00
R5490:Mpeg1 UTSW 19 12461693 missense probably damaging 0.99
R5725:Mpeg1 UTSW 19 12462636 missense probably benign 0.13
R6147:Mpeg1 UTSW 19 12462894 missense probably damaging 1.00
R6243:Mpeg1 UTSW 19 12462240 missense probably benign 0.26
R6486:Mpeg1 UTSW 19 12462105 missense probably damaging 1.00
R6520:Mpeg1 UTSW 19 12461958 missense probably benign 0.04
R7139:Mpeg1 UTSW 19 12461714 missense probably benign 0.07
R7204:Mpeg1 UTSW 19 12462894 missense probably damaging 1.00
R7310:Mpeg1 UTSW 19 12462251 missense probably damaging 0.99
R7665:Mpeg1 UTSW 19 12463094 missense probably damaging 1.00
R7674:Mpeg1 UTSW 19 12461387 missense probably benign
R8388:Mpeg1 UTSW 19 12462914 missense probably damaging 1.00
X0064:Mpeg1 UTSW 19 12461972 missense probably damaging 0.98
Posted On2013-04-17