Incidental Mutation 'R4605:Maip1'
ID 345952
Institutional Source Beutler Lab
Gene Symbol Maip1
Ensembl Gene ENSMUSG00000025971
Gene Name matrix AAA peptidase interacting protein 1
Synonyms 9430016H08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4605 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 57445487-57457112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57450891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 178 (I178V)
Ref Sequence ENSEMBL: ENSMUSP00000027114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027114] [ENSMUST00000162686]
AlphaFold Q8BHE8
Predicted Effect probably benign
Transcript: ENSMUST00000027114
AA Change: I178V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027114
Gene: ENSMUSG00000025971
AA Change: I178V

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: 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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankra2 A G 13: 98,402,742 (GRCm39) probably benign Het
Atp9b T A 18: 80,796,364 (GRCm39) probably null Het
Birc6 G A 17: 74,946,929 (GRCm39) D2885N probably damaging Het
Chaf1b A T 16: 93,684,977 (GRCm39) N142I possibly damaging Het
Ckap5 G A 2: 91,406,559 (GRCm39) G787S probably damaging Het
Ctc1 G T 11: 68,920,552 (GRCm39) C372F possibly damaging Het
Dip2b A G 15: 100,107,517 (GRCm39) T1176A probably benign Het
Epha10 A G 4: 124,779,550 (GRCm39) E132G probably damaging Het
Extl1 A G 4: 134,087,145 (GRCm39) V471A probably benign Het
Fgd6 T C 10: 93,880,217 (GRCm39) L357P probably benign Het
Gapvd1 A T 2: 34,618,549 (GRCm39) C275S probably damaging Het
Kcnj2 G A 11: 110,963,676 (GRCm39) C356Y probably damaging Het
Kcnk10 T C 12: 98,456,219 (GRCm39) D204G probably damaging Het
Krtap9-1 A C 11: 99,764,579 (GRCm39) E105A unknown Het
Loxhd1 G A 18: 77,493,642 (GRCm39) V668I probably benign Het
Ly86 T C 13: 37,558,987 (GRCm39) I62T possibly damaging Het
Mical3 G A 6: 121,011,041 (GRCm39) Q386* probably null Het
Or5an11 T C 19: 12,246,532 (GRCm39) *313Q probably null Het
Or5b107 T A 19: 13,142,612 (GRCm39) V78D probably damaging Het
Or5p52 A C 7: 107,502,445 (GRCm39) I174L probably benign Het
Or8j3b G A 2: 86,205,141 (GRCm39) T205I probably benign Het
Pcdha12 T C 18: 37,154,576 (GRCm39) S432P probably damaging Het
Prex1 A T 2: 166,555,464 (GRCm39) Y59N probably benign Het
Sbf1 A G 15: 89,187,684 (GRCm39) F654L probably damaging Het
Sh2d5 T A 4: 137,984,566 (GRCm39) Y187* probably null Het
Slc9a4 T C 1: 40,640,195 (GRCm39) probably null Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Spata31e2 T C 1: 26,722,267 (GRCm39) K971R probably benign Het
Srsf11 A T 3: 157,728,560 (GRCm39) L115* probably null Het
Tbx19 C T 1: 164,981,153 (GRCm39) V114I possibly damaging Het
Unc5b A G 10: 60,610,182 (GRCm39) V545A probably benign Het
Ush2a A G 1: 188,642,998 (GRCm39) Y4120C probably damaging Het
Vps13a T C 19: 16,617,403 (GRCm39) T3002A probably damaging Het
Zkscan2 A T 7: 123,097,947 (GRCm39) W150R probably damaging 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
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
R5883:Maip1 UTSW 1 57,446,260 (GRCm39) missense probably damaging 0.99
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'- AAGATTATATGCCCCAGTACAGG -3'
(R):5'- ACTCACAGCTTTGGTTTACTTGAAC -3'

Sequencing Primer
(F):5'- CCAGTACAGGGGAATGCC -3'
(R):5'- ACAATTATTTGTCATGTAAAGTTGCC -3'
Posted On 2015-09-25