Incidental Mutation 'R5883:Maip1'
ID 454495
Institutional Source Beutler Lab
Gene Symbol Maip1
Ensembl Gene ENSMUSG00000025971
Gene Name matrix AAA peptidase interacting protein 1
Synonyms 9430016H08Rik
MMRRC Submission 044086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5883 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 57445487-57457112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57446260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 110 (M110T)
Ref Sequence ENSEMBL: ENSMUSP00000027114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027114] [ENSMUST00000079998] [ENSMUST00000160118] [ENSMUST00000160837] [ENSMUST00000162686]
AlphaFold Q8BHE8
Predicted Effect probably damaging
Transcript: ENSMUST00000027114
AA Change: M110T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027114
Gene: ENSMUSG00000025971
AA Change: M110T

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 noncoding transcript
Transcript: ENSMUST00000185709
Predicted Effect probably benign
Transcript: ENSMUST00000162686
SMART Domains Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495

DomainStartEndE-ValueType
JmjC 105 265 5.8e-3 SMART
Meta Mutation Damage Score 0.1362 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.9%
  • 20x: 83.7%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G A 8: 120,872,380 (GRCm39) V103I possibly damaging Het
Aass G A 6: 23,072,993 (GRCm39) T920I probably benign Het
Akirin2 A G 4: 34,565,256 (GRCm39) I168V possibly damaging Het
Ambn T A 5: 88,615,688 (GRCm39) Y372* probably null Het
Ano3 T A 2: 110,711,209 (GRCm39) E85V probably null Het
Bmf C T 2: 118,377,447 (GRCm39) silent Het
Bmper T A 9: 23,317,970 (GRCm39) S530T probably benign Het
Bop1 T C 15: 76,339,049 (GRCm39) D383G probably damaging Het
Bub1b T A 2: 118,440,363 (GRCm39) Y156N probably damaging Het
Cacna1h A G 17: 25,595,896 (GRCm39) V1987A probably benign Het
Cd84 T C 1: 171,700,405 (GRCm39) V174A possibly damaging Het
Cep290 T A 10: 100,359,261 (GRCm39) L997Q probably benign Het
Chil4 C T 3: 106,117,886 (GRCm39) R128H possibly damaging Het
Cpne3 A T 4: 19,552,314 (GRCm39) V106D possibly damaging Het
D6Wsu163e A G 6: 126,943,879 (GRCm39) E425G probably damaging Het
Dlgap1 A T 17: 70,824,008 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,369,711 (GRCm39) H4379N probably damaging Het
Gm10309 A G 17: 86,806,185 (GRCm39) probably benign Het
Gm6264 G A 1: 85,148,903 (GRCm39) probably benign Het
Has2 T A 15: 56,531,459 (GRCm39) I419F possibly damaging Het
Hscb A G 5: 110,987,444 (GRCm39) C51R probably benign Het
Ighv1-61 T C 12: 115,323,183 (GRCm39) S4G probably benign Het
Islr2 G T 9: 58,105,998 (GRCm39) Q465K probably benign Het
Jakmip2 T C 18: 43,715,059 (GRCm39) I156V possibly damaging Het
Klk1b24 A G 7: 43,839,787 (GRCm39) I49V probably benign Het
Krt90 C T 15: 101,461,654 (GRCm39) probably benign Het
Larp1 C T 11: 57,933,125 (GRCm39) S243F probably damaging Het
Lrp4 T C 2: 91,318,778 (GRCm39) Y872H probably benign Het
Marchf7 G A 2: 60,064,786 (GRCm39) R354Q probably damaging Het
Med12l G T 3: 58,998,889 (GRCm39) E605D probably damaging Het
Nt5c1a T A 4: 123,110,049 (GRCm39) probably null Het
Or2j6 T A 7: 139,980,101 (GRCm39) Y286F probably damaging Het
Or5ac25 A T 16: 59,182,078 (GRCm39) C168S probably damaging Het
Or5p66 C T 7: 107,885,451 (GRCm39) S294N probably damaging Het
Pdzd9 T A 7: 120,267,776 (GRCm39) E13V possibly damaging Het
Ppip5k2 C T 1: 97,635,535 (GRCm39) A1100T possibly damaging Het
Prkdc C A 16: 15,533,778 (GRCm39) Q1539K probably benign Het
Rad54l C G 4: 115,956,243 (GRCm39) probably benign Het
Ric1 T A 19: 29,573,389 (GRCm39) I943N probably damaging Het
Rif1 T A 2: 51,995,651 (GRCm39) probably null Het
Rpl12 T C 2: 32,852,536 (GRCm39) probably benign Het
Ryr3 T C 2: 112,860,637 (GRCm39) probably benign Het
Scarb1 C A 5: 125,417,971 (GRCm39) probably benign Het
Sox10 T C 15: 79,040,463 (GRCm39) E359G probably damaging Het
Taf5 A G 19: 47,056,228 (GRCm39) T9A unknown Het
Tmem128 C T 5: 38,423,885 (GRCm39) A33V possibly damaging Het
Tox A C 4: 6,697,444 (GRCm39) V453G probably benign Het
Ubxn4 T A 1: 128,183,867 (GRCm39) C76S probably damaging Het
Vmn2r100 A T 17: 19,743,786 (GRCm39) Y483F probably benign Het
Xkr5 A G 8: 18,990,806 (GRCm39) S154P probably damaging Het
Zfp687 T C 3: 94,919,355 (GRCm39) N139S probably benign Het
Other mutations in Maip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02732:Maip1 APN 1 57,449,114 (GRCm39) missense probably damaging 1.00
IGL03064:Maip1 APN 1 57,446,359 (GRCm39) missense probably damaging 1.00
R0403:Maip1 UTSW 1 57,446,355 (GRCm39) missense probably benign 0.14
R0411:Maip1 UTSW 1 57,454,852 (GRCm39) missense probably damaging 1.00
R0732:Maip1 UTSW 1 57,450,994 (GRCm39) missense probably damaging 1.00
R1569:Maip1 UTSW 1 57,452,554 (GRCm39) splice site probably benign
R1620:Maip1 UTSW 1 57,449,144 (GRCm39) critical splice donor site probably null
R2830:Maip1 UTSW 1 57,454,822 (GRCm39) missense possibly damaging 0.53
R4574:Maip1 UTSW 1 57,452,404 (GRCm39) missense possibly damaging 0.90
R4605:Maip1 UTSW 1 57,450,891 (GRCm39) missense probably benign 0.00
R5082:Maip1 UTSW 1 57,451,010 (GRCm39) critical splice donor site probably null
R5178:Maip1 UTSW 1 57,454,849 (GRCm39) missense probably benign 0.06
R5262:Maip1 UTSW 1 57,446,131 (GRCm39) missense probably damaging 0.96
R6837:Maip1 UTSW 1 57,454,891 (GRCm39) makesense probably null
R7445:Maip1 UTSW 1 57,446,190 (GRCm39) missense possibly damaging 0.79
R7687:Maip1 UTSW 1 57,451,003 (GRCm39) missense probably damaging 0.98
R8408:Maip1 UTSW 1 57,449,102 (GRCm39) missense probably damaging 1.00
R8956:Maip1 UTSW 1 57,450,961 (GRCm39) missense probably damaging 1.00
R9093:Maip1 UTSW 1 57,446,311 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AAATTTGCTGCCTGTGCCG -3'
(R):5'- ATGGCTAAACACTTGATCACGG -3'

Sequencing Primer
(F):5'- TCAAGCGCGGCTCCGATC -3'
(R):5'- GGAAACGCTGAATGCACG -3'
Posted On 2017-02-10