Incidental Mutation 'IGL01527:Palmd'
ID 89614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Palmd
Ensembl Gene ENSMUSG00000033377
Gene Name palmdelphin
Synonyms 4631423C22Rik, PALML
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01527
Quality Score
Status
Chromosome 3
Chromosomal Location 116711907-116762636 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 116720837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 166 (E166*)
Ref Sequence ENSEMBL: ENSMUSP00000113107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040097] [ENSMUST00000119557] [ENSMUST00000143611]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000040097
AA Change: E166*
SMART Domains Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: E166*

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:Paralemmin 65 512 3.6e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119557
AA Change: E166*
SMART Domains Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: E166*

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:Paralemmin 64 278 6.6e-14 PFAM
Pfam:Paralemmin 323 515 1.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143611
SMART Domains Protein: ENSMUSP00000122725
Gene: ENSMUSG00000033377

DomainStartEndE-ValueType
coiled coil region 4 94 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,878,730 (GRCm39) probably null Het
Abca13 T A 11: 9,240,788 (GRCm39) W884R possibly damaging Het
Ahi1 T C 10: 20,835,984 (GRCm39) probably benign Het
Ankfn1 G T 11: 89,282,465 (GRCm39) P394Q probably benign Het
Cacnb2 T C 2: 14,989,081 (GRCm39) I393T possibly damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col22a1 T C 15: 71,778,880 (GRCm39) E269G probably damaging Het
Cyp24a1 A G 2: 170,338,486 (GRCm39) L70P probably damaging Het
Cyp8b1 T C 9: 121,744,061 (GRCm39) K424E probably damaging Het
Dicer1 G A 12: 104,657,869 (GRCm39) Q1902* probably null Het
Dst T A 1: 34,286,734 (GRCm39) L544Q probably damaging Het
Esrp2 T C 8: 106,858,865 (GRCm39) T591A probably benign Het
Gap43 C T 16: 42,112,516 (GRCm39) E82K probably benign Het
Ift70a1 T C 2: 75,810,860 (GRCm39) I408V probably benign Het
Kif17 G A 4: 137,996,397 (GRCm39) V125I probably benign Het
Lancl2 T C 6: 57,709,307 (GRCm39) S370P probably damaging Het
Macf1 T C 4: 123,386,953 (GRCm39) I203V possibly damaging Het
Mphosph9 A G 5: 124,421,687 (GRCm39) probably benign Het
Ncapg A G 5: 45,829,726 (GRCm39) I143V possibly damaging Het
Nr3c1 A G 18: 39,619,690 (GRCm39) V199A probably benign Het
Obscn T A 11: 58,955,243 (GRCm39) N3890I possibly damaging Het
Or2g7 A G 17: 38,378,986 (GRCm39) N308S probably benign Het
Or2h2c A T 17: 37,422,701 (GRCm39) Y58N probably damaging Het
Or52n5 T A 7: 104,588,198 (GRCm39) V155E possibly damaging Het
Or8g32 A G 9: 39,305,114 (GRCm39) H6R probably benign Het
Pdzd2 T C 15: 12,445,750 (GRCm39) E327G probably damaging Het
Pex13 T C 11: 23,606,111 (GRCm39) T40A probably benign Het
Pkd2 T C 5: 104,646,750 (GRCm39) probably benign Het
Plb1 A G 5: 32,474,467 (GRCm39) T643A probably damaging Het
Prlr T A 15: 10,329,257 (GRCm39) D577E probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Slc44a3 A G 3: 121,320,777 (GRCm39) C75R probably damaging Het
Susd6 A T 12: 80,921,093 (GRCm39) N230I possibly damaging Het
Tbx10 A G 19: 4,048,227 (GRCm39) R251G probably damaging Het
Uap1l1 A G 2: 25,253,816 (GRCm39) probably null Het
Ugt2b5 A G 5: 87,284,068 (GRCm39) V308A possibly damaging Het
Usp28 C A 9: 48,937,173 (GRCm39) H147Q probably benign Het
Vmn1r203 T C 13: 22,708,447 (GRCm39) I76T possibly damaging Het
Vmn2r104 A G 17: 20,263,158 (GRCm39) I101T possibly damaging Het
Vmn2r17 T A 5: 109,601,006 (GRCm39) L768H probably damaging Het
Other mutations in Palmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Palmd APN 3 116,721,040 (GRCm39) splice site probably benign
IGL01112:Palmd APN 3 116,717,922 (GRCm39) missense probably damaging 1.00
IGL01484:Palmd APN 3 116,746,794 (GRCm39) splice site probably benign
IGL01561:Palmd APN 3 116,717,742 (GRCm39) missense probably damaging 0.99
IGL01975:Palmd APN 3 116,717,283 (GRCm39) missense probably benign 0.24
R0107:Palmd UTSW 3 116,717,725 (GRCm39) missense probably damaging 1.00
R1099:Palmd UTSW 3 116,716,874 (GRCm39) missense possibly damaging 0.71
R1552:Palmd UTSW 3 116,741,689 (GRCm39) splice site probably benign
R1613:Palmd UTSW 3 116,717,153 (GRCm39) missense probably damaging 1.00
R1710:Palmd UTSW 3 116,717,306 (GRCm39) missense probably damaging 1.00
R2090:Palmd UTSW 3 116,721,083 (GRCm39) missense probably damaging 1.00
R2869:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2869:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2870:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2870:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2871:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2871:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2872:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2872:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2873:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R3774:Palmd UTSW 3 116,721,312 (GRCm39) missense probably damaging 1.00
R3981:Palmd UTSW 3 116,717,472 (GRCm39) missense probably benign 0.01
R3982:Palmd UTSW 3 116,717,472 (GRCm39) missense probably benign 0.01
R3983:Palmd UTSW 3 116,717,472 (GRCm39) missense probably benign 0.01
R4955:Palmd UTSW 3 116,717,873 (GRCm39) missense probably damaging 1.00
R5103:Palmd UTSW 3 116,721,070 (GRCm39) missense probably damaging 1.00
R5261:Palmd UTSW 3 116,717,009 (GRCm39) missense probably benign 0.04
R5265:Palmd UTSW 3 116,717,498 (GRCm39) missense possibly damaging 0.67
R5292:Palmd UTSW 3 116,717,393 (GRCm39) missense probably benign 0.00
R5499:Palmd UTSW 3 116,717,481 (GRCm39) missense probably benign 0.01
R5597:Palmd UTSW 3 116,717,225 (GRCm39) missense probably damaging 1.00
R5666:Palmd UTSW 3 116,717,750 (GRCm39) missense possibly damaging 0.55
R5817:Palmd UTSW 3 116,712,272 (GRCm39) missense probably benign 0.01
R6843:Palmd UTSW 3 116,717,864 (GRCm39) missense probably damaging 1.00
R6854:Palmd UTSW 3 116,717,112 (GRCm39) missense probably benign 0.06
R7052:Palmd UTSW 3 116,717,012 (GRCm39) missense probably benign 0.30
R7450:Palmd UTSW 3 116,721,292 (GRCm39) missense probably damaging 1.00
R8876:Palmd UTSW 3 116,720,899 (GRCm39) missense probably damaging 1.00
R9655:Palmd UTSW 3 116,716,840 (GRCm39) makesense probably null
R9681:Palmd UTSW 3 116,717,120 (GRCm39) missense probably benign 0.22
Z1177:Palmd UTSW 3 116,717,151 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03