Incidental Mutation 'IGL01120:Palm'
ID 52121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Palm
Ensembl Gene ENSMUSG00000035863
Gene Name paralemmin
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01120
Quality Score
Status
Chromosome 10
Chromosomal Location 79629406-79656730 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 79652621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046945] [ENSMUST00000105379] [ENSMUST00000169041] [ENSMUST00000218631] [ENSMUST00000218857] [ENSMUST00000220365]
AlphaFold Q9Z0P4
Predicted Effect probably benign
Transcript: ENSMUST00000046945
SMART Domains Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:Paralemmin 71 383 4.2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105379
SMART Domains Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:Paralemmin 70 339 1.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169041
SMART Domains Protein: ENSMUSP00000130071
Gene: ENSMUSG00000035852

DomainStartEndE-ValueType
low complexity region 262 284 N/A INTRINSIC
Pfam:AKAP2_C 294 643 1.7e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218631
Predicted Effect probably benign
Transcript: ENSMUST00000218857
Predicted Effect probably benign
Transcript: ENSMUST00000220365
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,040,329 (GRCm39) probably null Het
Armcx5 T C X: 134,647,112 (GRCm39) I396T probably damaging Het
Atm T C 9: 53,372,422 (GRCm39) probably null Het
Atp6v1c2 C T 12: 17,358,294 (GRCm39) E88K probably damaging Het
Caskin1 A G 17: 24,724,343 (GRCm39) T1044A possibly damaging Het
Cyp3a59 T A 5: 146,039,671 (GRCm39) S315T probably damaging Het
Dnaja1 T A 4: 40,730,248 (GRCm39) I240N probably damaging Het
Dnttip2 C T 3: 122,072,386 (GRCm39) probably benign Het
Elavl2 A T 4: 91,152,309 (GRCm39) M136K probably damaging Het
Eml5 C T 12: 98,810,278 (GRCm39) V893I probably benign Het
Fbxw4 G T 19: 45,628,955 (GRCm39) A2E probably benign Het
Flg2 T G 3: 93,108,475 (GRCm39) S168A probably damaging Het
Fndc3a G A 14: 72,794,102 (GRCm39) T857I probably benign Het
Gria1 A G 11: 57,208,495 (GRCm39) K797E probably damaging Het
Herc1 T C 9: 66,336,162 (GRCm39) F1569S probably benign Het
Kash5 G T 7: 44,833,622 (GRCm39) S560Y probably damaging Het
Lrrc45 T C 11: 120,610,836 (GRCm39) V524A probably benign Het
Myo19 T C 11: 84,798,104 (GRCm39) L708P probably damaging Het
Nup107 A G 10: 117,606,146 (GRCm39) probably benign Het
Or10ab4 T G 7: 107,654,774 (GRCm39) M195R probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Phf14 T C 6: 11,962,739 (GRCm39) V462A probably damaging Het
Pkhd1l1 G A 15: 44,368,708 (GRCm39) probably null Het
Pkp3 T A 7: 140,664,095 (GRCm39) L424* probably null Het
Prss29 A G 17: 25,541,107 (GRCm39) K184E probably benign Het
Prss3b A T 6: 41,008,607 (GRCm39) Y236N probably damaging Het
Ptcd1 C T 5: 145,089,053 (GRCm39) probably benign Het
Pth1r T C 9: 110,556,198 (GRCm39) H225R probably damaging Het
Rffl C T 11: 82,696,848 (GRCm39) V332I probably damaging Het
Rsl1 T C 13: 67,325,230 (GRCm39) probably benign Het
Scart2 T C 7: 139,876,472 (GRCm39) L648P probably benign Het
Scn9a T C 2: 66,357,316 (GRCm39) K986R probably benign Het
Slc22a15 A G 3: 101,804,482 (GRCm39) L181P probably damaging Het
Slc34a1 T A 13: 55,556,884 (GRCm39) L241H probably damaging Het
Slc4a4 C A 5: 89,280,238 (GRCm39) H354Q probably damaging Het
Sorcs2 T C 5: 36,178,596 (GRCm39) E1131G probably damaging Het
Ssc4d C A 5: 135,996,817 (GRCm39) D95Y probably damaging Het
Tcte1 A T 17: 45,850,594 (GRCm39) D290V probably damaging Het
Thyn1 T A 9: 26,915,070 (GRCm39) M74K probably benign Het
Tlr4 C T 4: 66,758,662 (GRCm39) T485I probably benign Het
Trem1 A G 17: 48,544,277 (GRCm39) T101A probably benign Het
Ttc17 T C 2: 94,202,141 (GRCm39) E387G probably damaging Het
Vmn2r103 A T 17: 20,013,259 (GRCm39) T127S probably benign Het
Other mutations in Palm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03080:Palm APN 10 79,654,951 (GRCm39) missense probably damaging 1.00
IGL03143:Palm APN 10 79,652,617 (GRCm39) splice site probably benign
R0681:Palm UTSW 10 79,655,327 (GRCm39) missense probably benign 0.35
R1476:Palm UTSW 10 79,651,021 (GRCm39) missense possibly damaging 0.50
R1534:Palm UTSW 10 79,652,737 (GRCm39) missense probably damaging 1.00
R3439:Palm UTSW 10 79,652,618 (GRCm39) splice site probably benign
R4327:Palm UTSW 10 79,643,520 (GRCm39) missense probably benign 0.31
R4328:Palm UTSW 10 79,643,520 (GRCm39) missense probably benign 0.31
R4329:Palm UTSW 10 79,643,520 (GRCm39) missense probably benign 0.31
R6586:Palm UTSW 10 79,645,365 (GRCm39) missense probably benign 0.07
R7341:Palm UTSW 10 79,652,697 (GRCm39) missense probably damaging 0.98
R7977:Palm UTSW 10 79,629,539 (GRCm39) start gained probably benign
R7987:Palm UTSW 10 79,629,539 (GRCm39) start gained probably benign
R8253:Palm UTSW 10 79,643,511 (GRCm39) nonsense probably null
R8496:Palm UTSW 10 79,642,485 (GRCm39) missense probably benign 0.33
R9098:Palm UTSW 10 79,654,988 (GRCm39) missense probably benign 0.03
R9682:Palm UTSW 10 79,655,039 (GRCm39) missense possibly damaging 0.90
R9717:Palm UTSW 10 79,655,117 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21