Incidental Mutation 'IGL03080:Palm'
ID 417830
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 # IGL03080
Quality Score
Status
Chromosome 10
Chromosomal Location 79629406-79656730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79654951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 74 (H74Q)
Ref Sequence ENSEMBL: ENSMUSP00000151929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046833] [ENSMUST00000046945] [ENSMUST00000105379] [ENSMUST00000169041] [ENSMUST00000218631] [ENSMUST00000218687] [ENSMUST00000218857] [ENSMUST00000220365] [ENSMUST00000219305]
AlphaFold Q9Z0P4
Predicted Effect probably benign
Transcript: ENSMUST00000046833
SMART Domains Protein: ENSMUSP00000048893
Gene: ENSMUSG00000035852

DomainStartEndE-ValueType
low complexity region 262 284 N/A INTRINSIC
Pfam:AKAP2_C 294 643 2.2e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000046945
AA Change: H236Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: H236Q

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:Paralemmin 71 383 4.2e-126 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105379
AA Change: H192Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863
AA Change: H192Q

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: ENSMUST00000218687
Predicted Effect possibly damaging
Transcript: ENSMUST00000218857
AA Change: H30Q

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000220365
AA Change: H74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219305
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 T C 8: 80,429,630 (GRCm39) probably null Het
Adgrf3 T C 5: 30,401,827 (GRCm39) M734V probably benign Het
Aqp8 T G 7: 123,065,802 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cntn4 A G 6: 106,632,500 (GRCm39) D508G probably damaging Het
Cyp11b1 A T 15: 74,711,285 (GRCm39) probably null Het
Dnah8 A G 17: 30,937,980 (GRCm39) D1619G probably benign Het
Eif1ad17 A T 12: 87,978,615 (GRCm39) probably benign Het
Ephb4 T A 5: 137,352,345 (GRCm39) probably benign Het
Ffar3 A T 7: 30,554,747 (GRCm39) V191E probably damaging Het
Galnt1 T A 18: 24,402,574 (GRCm39) D310E probably damaging Het
Igf2r T C 17: 12,945,563 (GRCm39) Y342C probably benign Het
Jade1 T A 3: 41,554,510 (GRCm39) C251* probably null Het
Jhy T C 9: 40,855,653 (GRCm39) E278G probably damaging Het
Kif24 A C 4: 41,394,417 (GRCm39) S819A probably benign Het
Lrp8 T C 4: 107,712,996 (GRCm39) L344P probably damaging Het
Lrrc27 A G 7: 138,810,153 (GRCm39) T375A probably benign Het
Mbd3 C T 10: 80,229,085 (GRCm39) R204Q probably damaging Het
Nab2 T C 10: 127,500,663 (GRCm39) N143S possibly damaging Het
Nkiras2 T C 11: 100,515,105 (GRCm39) probably null Het
Or7e174 A T 9: 20,012,705 (GRCm39) I217F probably damaging Het
Pros1 T A 16: 62,738,506 (GRCm39) N408K probably damaging Het
Psg23 T A 7: 18,340,910 (GRCm39) Y448F probably damaging Het
Ranbp2 C A 10: 58,312,613 (GRCm39) P1111Q probably benign Het
Rims2 A G 15: 39,399,299 (GRCm39) S1115G probably damaging Het
Scn7a T C 2: 66,528,160 (GRCm39) T777A probably benign Het
Spata31h1 T C 10: 82,119,816 (GRCm39) D428G probably damaging Het
Stard3nl A T 13: 19,554,648 (GRCm39) probably null Het
Sult1d1 T C 5: 87,704,847 (GRCm39) D214G probably benign Het
Tmprss12 T C 15: 100,190,529 (GRCm39) W300R probably damaging Het
Tmprss2 T C 16: 97,398,044 (GRCm39) Y44C probably damaging Het
Ttk A G 9: 83,725,136 (GRCm39) N154D probably damaging Het
Tut4 T A 4: 108,363,021 (GRCm39) S444R probably damaging Het
Tyw1 T C 5: 130,295,896 (GRCm39) Y108H probably damaging Het
Vmn2r44 C A 7: 8,386,244 (GRCm39) probably benign Het
Zfand1 A G 3: 10,405,797 (GRCm39) *269Q probably null Het
Zfp142 A T 1: 74,610,368 (GRCm39) D1039E probably benign Het
Zkscan5 G T 5: 145,155,460 (GRCm39) S377I probably damaging Het
Other mutations in Palm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Palm APN 10 79,652,621 (GRCm39) splice site probably benign
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 2016-08-02