Incidental Mutation 'IGL01098:Mapk1ip1'
ID51523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk1ip1
Ensembl Gene ENSMUSG00000041775
Gene Namemitogen-activated protein kinase 1 interacting protein 1
SynonymsMiss, 2310009E07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL01098
Quality Score
Status
Chromosome7
Chromosomal Location138835823-138846273 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 138836462 bp
ZygosityHeterozygous
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]
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: 151,473,533 D75G possibly damaging Het
Brip1 G T 11: 86,108,862 R765S possibly damaging Het
Btbd16 T C 7: 130,823,245 I452T probably damaging Het
Cdc42ep4 T G 11: 113,729,502 D21A probably damaging Het
Cdx2 T A 5: 147,306,982 M1L possibly damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Csmd2 C T 4: 128,059,052 T98M probably damaging Het
Cyp26a1 A T 19: 37,700,002 Q324L probably benign Het
Etaa1 A G 11: 17,946,059 V686A probably damaging Het
Gpr6 G A 10: 41,070,743 T281I probably damaging Het
Herc1 T A 9: 66,461,922 probably null Het
Lama2 A T 10: 27,031,112 I2351N possibly damaging Het
Lman1 A G 18: 65,991,640 F343L probably damaging Het
Lmo1 A G 7: 109,143,450 probably benign Het
Lrrc17 T A 5: 21,575,271 F414L probably benign Het
Man2b2 A T 5: 36,815,556 L538Q probably damaging Het
Map3k9 A G 12: 81,724,154 S910P probably damaging Het
Mindy4 G T 6: 55,284,742 probably benign Het
Msh4 A T 3: 153,877,982 probably benign Het
Mta2 A G 19: 8,946,717 D187G probably damaging Het
Olfml2a A G 2: 38,947,214 probably null Het
Pink1 A T 4: 138,320,097 probably null Het
Plekha6 T C 1: 133,282,165 F575L possibly damaging Het
Rpe C A 1: 66,706,515 D71E probably benign Het
Slc5a7 C T 17: 54,292,960 A142T probably benign Het
Sptbn1 C T 11: 30,159,385 R70K probably damaging Het
Taf1c G T 8: 119,602,841 Q159K probably damaging Het
Tgfb1i1 T C 7: 128,252,521 F311S probably damaging Het
Tmc8 T C 11: 117,792,563 V648A possibly damaging Het
Tmed8 G T 12: 87,176,671 A98E probably benign Het
Tmem200a A G 10: 25,994,143 I76T probably damaging Het
Vmn2r104 T C 17: 20,048,096 E37G probably benign Het
Vmn2r18 A T 5: 151,572,831 V474E probably damaging Het
Vps52 C T 17: 33,962,730 T510I possibly damaging Het
Wwox G T 8: 114,445,378 G71* probably null Het
Zer1 C T 2: 30,108,220 probably null Het
Zfp296 A T 7: 19,577,920 K117N possibly damaging Het
Other mutations in Mapk1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01794:Mapk1ip1 APN 7 138836697 start codon destroyed probably null 0.02
R0631:Mapk1ip1 UTSW 7 138835955 missense possibly damaging 0.53
R1389:Mapk1ip1 UTSW 7 138836727 start gained probably benign
R5801:Mapk1ip1 UTSW 7 138836510 missense possibly damaging 0.71
R6083:Mapk1ip1 UTSW 7 138836588 nonsense probably null
Posted On2013-06-21