Incidental Mutation 'IGL02229:Mpp1'
ID285438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpp1
Ensembl Gene ENSMUSG00000031402
Gene Namemembrane protein, palmitoylated
Synonymsp55, erythrocyte protein p55, C130070C03Rik, 55kDa
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02229
Quality Score
Status
ChromosomeX
Chromosomal Location75109733-75131016 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 75121428 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033775] [ENSMUST00000114091] [ENSMUST00000114092] [ENSMUST00000127023] [ENSMUST00000132501] [ENSMUST00000153318] [ENSMUST00000155742]
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 probably benign
Transcript: ENSMUST00000155742
SMART Domains Protein: ENSMUSP00000116401
Gene: ENSMUSG00000031402

DomainStartEndE-ValueType
PDZ 63 131 1.71e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156975
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: 63,898,353 D144G probably damaging Het
Adgrg1 G T 8: 95,003,511 D114Y probably damaging Het
Ago4 T A 4: 126,511,532 N416I probably benign Het
Aoc1 C T 6: 48,905,909 Q240* probably null Het
Atl1 G A 12: 69,926,025 V40I probably benign Het
Cdh2 T C 18: 16,624,753 I591V probably benign Het
Cic C A 7: 25,290,950 Q1959K probably damaging Het
Cmya5 C T 13: 93,092,686 E1965K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 T C 1: 10,083,556 S397P probably damaging Het
D130043K22Rik T C 13: 24,875,924 Y593H probably damaging Het
Dck A G 5: 88,774,105 Y142C probably damaging Het
Eea1 A T 10: 96,018,184 E568V probably damaging Het
Gabra3 A G X: 72,501,077 probably null Het
Gucy2f A G X: 142,179,988 S342P probably benign Het
Hbb-bh1 T A 7: 103,842,825 I61F possibly damaging Het
Hook1 T C 4: 96,001,251 S235P possibly damaging Het
Hoxd12 G A 2: 74,675,934 R230H probably damaging Het
Iglc2 C T 16: 19,198,733 A41T probably benign Het
Il1r1 A G 1: 40,313,358 K566E probably damaging Het
Kcns3 A T 12: 11,092,092 M202K probably damaging Het
Krt7 C A 15: 101,427,616 A442D probably benign Het
Ltk C T 2: 119,758,573 R200H probably benign Het
Macf1 G T 4: 123,509,826 D582E probably damaging Het
Mbnl3 A T X: 51,139,341 Y69N probably damaging Het
Myo18b A G 5: 112,878,110 S25P unknown Het
Nsd3 A G 8: 25,710,748 N1289S probably damaging Het
Olfr26 T A 9: 38,855,416 M118K possibly damaging Het
Pacs2 A G 12: 113,056,800 probably benign Het
Rab3gap2 A G 1: 185,259,383 K689E possibly damaging Het
Sva T A 6: 42,042,222 C109S probably damaging Het
Taf3 T C 2: 9,952,834 N174S probably damaging Het
Tbc1d5 A T 17: 50,852,600 M393K probably damaging Het
Tmem242 A T 17: 5,411,407 S129T probably benign Het
Ttn A T 2: 76,871,169 probably benign Het
Other mutations in Mpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1867:Mpp1 UTSW X 75125369 critical splice donor site probably null
R6382:Mpp1 UTSW X 75125769 frame shift probably null
X0026:Mpp1 UTSW X 75110774 missense probably benign 0.34
Posted On2015-04-16