Incidental Mutation 'IGL01061:Prelid3b'
ID 50378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prelid3b
Ensembl Gene ENSMUSG00000016257
Gene Name PRELI domain containing 3B
Synonyms Slmo2, 2310042G06Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # IGL01061
Quality Score
Status
Chromosome 2
Chromosomal Location 174306884-174314734 bp(-) (GRCm39)
Type of Mutation splice site (3560 bp from exon)
DNA Base Change (assembly) T to C at 174307614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016396] [ENSMUST00000016401] [ENSMUST00000117442] [ENSMUST00000120822] [ENSMUST00000141100]
AlphaFold Q9CYY7
Predicted Effect probably benign
Transcript: ENSMUST00000016396
SMART Domains Protein: ENSMUSP00000016396
Gene: ENSMUSG00000016252

DomainStartEndE-ValueType
Pfam:ATP-synt_Eps 2 51 7.8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000016401
AA Change: D194G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000016401
Gene: ENSMUSG00000016257
AA Change: D194G

DomainStartEndE-ValueType
Pfam:PRELI 15 170 3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117442
AA Change: D104G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112686
Gene: ENSMUSG00000016257
AA Change: D104G

DomainStartEndE-ValueType
Pfam:PRELI 1 80 1.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120822
AA Change: D104G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113522
Gene: ENSMUSG00000016257
AA Change: D104G

DomainStartEndE-ValueType
Pfam:PRELI 1 80 1.8e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000141100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153132
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
B3gnt2 T A 11: 22,786,042 (GRCm39) E382V probably damaging Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Cpb1 T A 3: 20,320,680 (GRCm39) I92L probably benign Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fam83a A T 15: 57,849,771 (GRCm39) Y105F possibly damaging Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mcm3 A T 1: 20,884,720 (GRCm39) I261N possibly damaging Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or52b1 A G 7: 104,978,589 (GRCm39) I270T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab22a T A 2: 173,530,003 (GRCm39) D60E probably damaging Het
Rab32 A G 10: 10,433,618 (GRCm39) L72P probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in Prelid3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Prelid3b APN 2 174,307,598 (GRCm39) unclassified probably benign
R0510:Prelid3b UTSW 2 174,307,743 (GRCm39) unclassified probably benign
R2114:Prelid3b UTSW 2 174,311,243 (GRCm39) missense probably damaging 1.00
R4688:Prelid3b UTSW 2 174,308,592 (GRCm39) missense probably benign 0.17
R4735:Prelid3b UTSW 2 174,307,683 (GRCm39) missense probably benign 0.00
R6973:Prelid3b UTSW 2 174,311,155 (GRCm39) missense probably benign 0.10
R7684:Prelid3b UTSW 2 174,310,210 (GRCm39) splice site probably null
R9337:Prelid3b UTSW 2 174,310,161 (GRCm39) missense probably benign 0.26
X0063:Prelid3b UTSW 2 174,310,095 (GRCm39) missense probably benign 0.03
Posted On 2013-06-21