Incidental Mutation 'IGL03064:Maip1'
ID409585
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maip1
Ensembl Gene ENSMUSG00000025971
Gene Namematrix AAA peptidase interacting protein 1
Synonyms9430016H08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL03064
Quality Score
Status
Chromosome1
Chromosomal Location57406328-57417953 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57407200 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 143 (E143G)
Ref Sequence ENSEMBL: ENSMUSP00000027114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027114] [ENSMUST00000079998] [ENSMUST00000160118] [ENSMUST00000160837] [ENSMUST00000162686]
Predicted Effect probably damaging
Transcript: ENSMUST00000027114
AA Change: E143G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027114
Gene: ENSMUSG00000025971
AA Change: E143G

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 66 78 N/A INTRINSIC
low complexity region 82 93 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
Blast:Tim44 131 210 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000079998
SMART Domains Protein: ENSMUSP00000078912
Gene: ENSMUSG00000048495

DomainStartEndE-ValueType
PDB:3AL6|D 1 71 3e-39 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097732
Predicted Effect probably benign
Transcript: ENSMUST00000160118
SMART Domains Protein: ENSMUSP00000125386
Gene: ENSMUSG00000048495

DomainStartEndE-ValueType
PDB:3AL6|D 1 71 1e-38 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000160837
SMART Domains Protein: ENSMUSP00000128576
Gene: ENSMUSG00000048495

DomainStartEndE-ValueType
JmjC 103 255 2.25e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161780
SMART Domains Protein: ENSMUSP00000125487
Gene: ENSMUSG00000048495

DomainStartEndE-ValueType
PDB:3AL6|D 1 71 3e-39 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000162686
SMART Domains Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495

DomainStartEndE-ValueType
JmjC 105 265 5.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185709
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,575,641 T210A probably damaging Het
Adgb T A 10: 10,400,572 T351S probably benign Het
Akap9 A G 5: 3,968,755 H1112R probably damaging Het
Angptl6 A T 9: 20,875,643 Y261* probably null Het
Arhgef10l A C 4: 140,579,279 F395V probably damaging Het
Bub1 T C 2: 127,817,453 N328S probably benign Het
Cacna1s A G 1: 136,111,993 N1186D probably damaging Het
Cacna2d2 C A 9: 107,509,275 F200L probably damaging Het
Calca G A 7: 114,633,684 S110L probably benign Het
Ccdc120 G A X: 7,735,362 P263S probably benign Het
Dgki C A 6: 37,149,664 probably benign Het
Ear1 G T 14: 43,819,045 S122* probably null Het
F5 A T 1: 164,195,594 T1574S probably benign Het
Fam227b T C 2: 126,126,842 probably null Het
Gm20521 T A 14: 54,897,223 S301T possibly damaging Het
Hsd17b7 A T 1: 169,959,718 I239N probably benign Het
Itih1 C A 14: 30,941,557 E163D probably benign Het
Lama1 A T 17: 67,779,104 Y1446F probably benign Het
Lama3 C T 18: 12,439,349 T537M possibly damaging Het
Lars G T 18: 42,221,571 Y770* probably null Het
Lrp2 A T 2: 69,483,133 V2418E probably damaging Het
Mast4 G T 13: 102,760,964 S739* probably null Het
Mctp1 C T 13: 76,801,513 Q555* probably null Het
Med14 A T X: 12,747,503 D291E probably benign Het
Mgat2 T A 12: 69,185,003 V117D probably damaging Het
Mllt1 A T 17: 56,900,094 M250K probably benign Het
Myt1 A C 2: 181,797,801 Y372S probably benign Het
Naa16 T A 14: 79,339,628 Q735H probably damaging Het
Ncf4 A G 15: 78,250,902 Y53C probably damaging Het
Nlrp4a A T 7: 26,449,509 K180N probably benign Het
Nova1 A G 12: 46,700,078 V472A probably damaging Het
Nup153 T C 13: 46,693,839 T705A probably benign Het
Odf2 T A 2: 29,901,079 N79K probably benign Het
Olfr1303 A G 2: 111,814,423 I101T possibly damaging Het
Pard3b G A 1: 62,198,771 probably benign Het
Pde8b G A 13: 95,046,398 T388I probably damaging Het
Pet2 A G X: 89,405,251 V424A possibly damaging Het
Phactr2 A G 10: 13,388,713 probably benign Het
Phf12 T C 11: 77,983,360 S17P probably damaging Het
Psmg2 T A 18: 67,646,032 L90* probably null Het
Ryr2 T C 13: 11,643,902 probably null Het
Sec23b T C 2: 144,582,032 F534L probably benign Het
Sin3b A G 8: 72,757,058 probably benign Het
Slc30a5 A T 13: 100,811,310 L463Q probably damaging Het
Slc35g3 T C 11: 69,761,069 H52R possibly damaging Het
Slc6a3 G T 13: 73,571,466 S538I probably damaging Het
Socs2 G T 10: 95,412,851 C133* probably null Het
Srebf2 G A 15: 82,192,222 R691H probably benign Het
Tlr11 C A 14: 50,361,100 P181Q probably damaging Het
Tlr7 T A X: 167,306,207 Q761L possibly damaging Het
Tmem120b T A 5: 123,102,273 Y90N possibly damaging Het
Tpcn1 T C 5: 120,537,566 I778V possibly damaging Het
Ttll8 T C 15: 88,919,594 T385A probably benign Het
Vmn1r223 G A 13: 23,249,983 R249H probably damaging Het
Vmn2r53 A T 7: 12,601,010 I241N possibly damaging Het
Wdfy3 T C 5: 101,935,997 R808G probably damaging Het
Zfyve26 T A 12: 79,261,791 S231C probably damaging Het
Other mutations in Maip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02732:Maip1 APN 1 57409955 missense probably damaging 1.00
R0403:Maip1 UTSW 1 57407196 missense probably benign 0.14
R0411:Maip1 UTSW 1 57415693 missense probably damaging 1.00
R0732:Maip1 UTSW 1 57411835 missense probably damaging 1.00
R1569:Maip1 UTSW 1 57413395 splice site probably benign
R1620:Maip1 UTSW 1 57409985 critical splice donor site probably null
R2830:Maip1 UTSW 1 57415663 missense possibly damaging 0.53
R4574:Maip1 UTSW 1 57413245 missense possibly damaging 0.90
R4605:Maip1 UTSW 1 57411732 missense probably benign 0.00
R5082:Maip1 UTSW 1 57411851 critical splice donor site probably null
R5178:Maip1 UTSW 1 57415690 missense probably benign 0.06
R5262:Maip1 UTSW 1 57406972 missense probably damaging 0.96
R5883:Maip1 UTSW 1 57407101 missense probably damaging 0.99
R6837:Maip1 UTSW 1 57415732 makesense probably null
R7445:Maip1 UTSW 1 57407031 missense possibly damaging 0.79
R7687:Maip1 UTSW 1 57411844 missense probably damaging 0.98
Posted On2016-08-02