Incidental Mutation 'IGL01098:Mapk1ip1'
ID 51523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk1ip1
Ensembl Gene ENSMUSG00000041775
Gene Name mitogen-activated protein kinase 1 interacting protein 1
Synonyms Miss, 2310009E07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # IGL01098
Quality Score
Status
Chromosome 7
Chromosomal Location 138437547-138447996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 138438191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 80 (P80S)
Ref Sequence ENSEMBL: ENSMUSP00000112631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075667] [ENSMUST00000118810] [ENSMUST00000119664]
AlphaFold Q9D7G9
Predicted Effect probably damaging
Transcript: ENSMUST00000075667
AA Change: P80S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075090
Gene: ENSMUSG00000041775
AA Change: P80S

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
low complexity region 200 213 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118810
AA Change: P80S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113813
Gene: ENSMUSG00000041775
AA Change: P80S

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
low complexity region 200 213 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119664
AA Change: P80S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112631
Gene: ENSMUSG00000041775
AA Change: P80S

DomainStartEndE-ValueType
Pfam:MISS 1 166 5.5e-52 PFAM
low complexity region 200 213 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,453 (GRCm39) D75G possibly damaging Het
Brip1 G T 11: 85,999,688 (GRCm39) R765S possibly damaging Het
Btbd16 T C 7: 130,424,975 (GRCm39) I452T probably damaging Het
Cdc42ep4 T G 11: 113,620,328 (GRCm39) D21A probably damaging Het
Cdx2 T A 5: 147,243,792 (GRCm39) M1L possibly damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Csmd2 C T 4: 127,952,845 (GRCm39) T98M probably damaging Het
Cyp26a1 A T 19: 37,688,450 (GRCm39) Q324L probably benign Het
Etaa1 A G 11: 17,896,059 (GRCm39) V686A probably damaging Het
Gpr6 G A 10: 40,946,739 (GRCm39) T281I probably damaging Het
Herc1 T A 9: 66,369,204 (GRCm39) probably null Het
Lama2 A T 10: 26,907,108 (GRCm39) I2351N possibly damaging Het
Lman1 A G 18: 66,124,711 (GRCm39) F343L probably damaging Het
Lmo1 A G 7: 108,742,657 (GRCm39) probably benign Het
Lrrc17 T A 5: 21,780,269 (GRCm39) F414L probably benign Het
Man2b2 A T 5: 36,972,900 (GRCm39) L538Q probably damaging Het
Map3k9 A G 12: 81,770,928 (GRCm39) S910P probably damaging Het
Mindy4 G T 6: 55,261,727 (GRCm39) probably benign Het
Msh4 A T 3: 153,583,619 (GRCm39) probably benign Het
Mta2 A G 19: 8,924,081 (GRCm39) D187G probably damaging Het
Olfml2a A G 2: 38,837,226 (GRCm39) probably null Het
Pink1 A T 4: 138,047,408 (GRCm39) probably null Het
Plekha6 T C 1: 133,209,903 (GRCm39) F575L possibly damaging Het
Rpe C A 1: 66,745,674 (GRCm39) D71E probably benign Het
Slc5a7 C T 17: 54,599,988 (GRCm39) A142T probably benign Het
Sptbn1 C T 11: 30,109,385 (GRCm39) R70K probably damaging Het
Taf1c G T 8: 120,329,580 (GRCm39) Q159K probably damaging Het
Tgfb1i1 T C 7: 127,851,693 (GRCm39) F311S probably damaging Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmed8 G T 12: 87,223,445 (GRCm39) A98E probably benign Het
Tmem200a A G 10: 25,870,041 (GRCm39) I76T probably damaging Het
Vmn2r104 T C 17: 20,268,358 (GRCm39) E37G probably benign Het
Vmn2r18 A T 5: 151,496,296 (GRCm39) V474E probably damaging Het
Vps52 C T 17: 34,181,704 (GRCm39) T510I possibly damaging Het
Wwox G T 8: 115,172,118 (GRCm39) G71* probably null Het
Zer1 C T 2: 29,998,232 (GRCm39) probably null Het
Zfp296 A T 7: 19,311,845 (GRCm39) K117N possibly damaging Het
Other mutations in Mapk1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01794:Mapk1ip1 APN 7 138,438,426 (GRCm39) start codon destroyed probably null 0.02
R0631:Mapk1ip1 UTSW 7 138,437,684 (GRCm39) missense possibly damaging 0.53
R1389:Mapk1ip1 UTSW 7 138,438,456 (GRCm39) start gained probably benign
R5801:Mapk1ip1 UTSW 7 138,438,239 (GRCm39) missense possibly damaging 0.71
R6083:Mapk1ip1 UTSW 7 138,438,317 (GRCm39) nonsense probably null
Posted On 2013-06-21