Incidental Mutation 'IGL02229:Mpp1'
ID 285438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp1
Ensembl Gene ENSMUSG00000031402
Gene Name membrane protein, palmitoylated
Synonyms erythrocyte protein p55, 55kDa, p55, C130070C03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02229
Quality Score
Status
Chromosome X
Chromosomal Location 74153339-74174622 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 74165034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033775] [ENSMUST00000114091] [ENSMUST00000114092] [ENSMUST00000127023] [ENSMUST00000132501] [ENSMUST00000153318] [ENSMUST00000155742]
AlphaFold P70290
Predicted Effect probably benign
Transcript: ENSMUST00000033775
SMART Domains Protein: ENSMUSP00000033775
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
PDZ 80 152 1.32e-14 SMART
SH3 161 227 2.85e-12 SMART
low complexity region 247 258 N/A INTRINSIC
GuKc 281 454 1.55e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114091
SMART Domains Protein: ENSMUSP00000109725
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
PDZ 80 152 1.32e-14 SMART
SH3 161 227 2.85e-12 SMART
low complexity region 247 258 N/A INTRINSIC
GuKc 281 450 2.06e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114092
SMART Domains Protein: ENSMUSP00000109726
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
PDZ 80 152 1.32e-14 SMART
SH3 146 207 5.79e-4 SMART
low complexity region 227 238 N/A INTRINSIC
GuKc 261 434 1.55e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127023
Predicted Effect probably benign
Transcript: ENSMUST00000132501
SMART Domains Protein: ENSMUSP00000118693
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
SH3 35 101 2.85e-12 SMART
low complexity region 121 132 N/A INTRINSIC
Pfam:Guanylate_kin 155 205 3.8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135285
Predicted Effect probably benign
Transcript: ENSMUST00000153318
SMART Domains Protein: ENSMUSP00000116897
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
SH3 58 124 2.85e-12 SMART
low complexity region 144 155 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156975
Predicted Effect probably benign
Transcript: ENSMUST00000155742
SMART Domains Protein: ENSMUSP00000116401
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
PDZ 63 131 1.71e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein localized to the cell membrane. The protein serves as a scaffold for the assembly of the actin cytoskeleton, and plays a role in regulating apico-basal cell polarity. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display defects in neutrophil polarity and chemotaxis and produce small litters of pups. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Mpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1867:Mpp1 UTSW X 74,168,975 (GRCm39) critical splice donor site probably null
R6382:Mpp1 UTSW X 74,169,375 (GRCm39) frame shift probably null
X0026:Mpp1 UTSW X 74,154,380 (GRCm39) missense probably benign 0.34
Posted On 2015-04-16