Incidental Mutation 'IGL01061:Prelid3b'
ID50378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prelid3b
Ensembl Gene ENSMUSG00000016257
Gene NamePRELI domain containing 3B
SynonymsSlmo2, 2310042G06Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.905) question?
Stock #IGL01061
Quality Score
Status
Chromosome2
Chromosomal Location174465067-174473081 bp(-) (GRCm38)
Type of Mutationunclassified (3560 bp from exon)
DNA Base Change (assembly) T to C at 174465821 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016396] [ENSMUST00000016401] [ENSMUST00000117442] [ENSMUST00000120822] [ENSMUST00000141100]
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: 78,907,302 M299I probably damaging Het
Ankfy1 T A 11: 72,728,860 C186* probably null Het
Ankmy1 A T 1: 92,870,974 probably benign Het
B3gnt2 T A 11: 22,836,042 E382V probably damaging Het
Carmil3 T G 14: 55,498,630 S610A possibly damaging Het
Cfap70 T C 14: 20,447,625 probably benign Het
Chek1 G A 9: 36,714,519 R277C possibly damaging Het
Cpb1 T A 3: 20,266,516 I92L probably benign Het
Ddx56 C T 11: 6,264,671 probably null Het
Dicer1 A T 12: 104,706,327 M887K probably null Het
Dnajc18 A G 18: 35,680,942 probably benign Het
Dock2 A G 11: 34,705,826 V401A probably damaging Het
Dock4 A C 12: 40,702,969 N434T probably benign Het
Ehbp1l1 A T 19: 5,717,888 M1129K probably benign Het
Fam83a A T 15: 57,986,375 Y105F possibly damaging Het
Fnbp1 C A 2: 31,083,042 D70Y probably damaging Het
Gtf3c2 A G 5: 31,168,354 F414L possibly damaging Het
Kdelc2 A G 9: 53,388,587 probably benign Het
Kndc1 A T 7: 139,922,694 E965D probably benign Het
Lrrc66 T C 5: 73,615,499 K209E probably benign Het
Mcm3 A T 1: 20,814,496 I261N possibly damaging Het
Mier3 T A 13: 111,714,436 probably benign Het
Muc6 T C 7: 141,648,454 E669G probably damaging Het
Myh1 T A 11: 67,217,862 M1368K probably benign Het
Nav1 A G 1: 135,450,630 I1653T probably damaging Het
Nuak1 C A 10: 84,375,134 L363F probably damaging Het
Olfr113 A G 17: 37,574,904 I173T possibly damaging Het
Olfr1502 T C 19: 13,862,705 V304A possibly damaging Het
Olfr690 A G 7: 105,329,382 I270T possibly damaging Het
Pkd1l3 A G 8: 109,638,706 H1153R probably damaging Het
Ppp6r2 A T 15: 89,286,015 probably benign Het
Prrt3 T C 6: 113,497,770 K164E possibly damaging Het
Rab22a T A 2: 173,688,210 D60E probably damaging Het
Rab32 A G 10: 10,557,874 L72P probably damaging Het
Samm50 A G 15: 84,202,254 T225A probably benign Het
Snx27 T A 3: 94,528,980 probably benign Het
Taf7 G A 18: 37,643,433 T27M probably damaging Het
Tgm5 A T 2: 121,071,496 C231S probably benign Het
Tll1 A G 8: 64,038,454 probably null Het
Tmem150a A G 6: 72,357,118 D61G probably damaging Het
Ttll8 G A 15: 88,917,250 R412C possibly damaging Het
Ubr3 T A 2: 69,983,225 D1293E probably benign Het
Utp20 T C 10: 88,770,704 N1669D probably benign Het
Vmn2r28 A G 7: 5,488,184 W355R probably damaging Het
Wdr60 C A 12: 116,229,704 A543S probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfhx2 T A 14: 55,073,882 N452Y possibly damaging Het
Zfp180 T G 7: 24,104,745 D196E possibly damaging Het
Other mutations in Prelid3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Prelid3b APN 2 174465805 unclassified probably benign
R0510:Prelid3b UTSW 2 174465950 unclassified probably benign
R2114:Prelid3b UTSW 2 174469450 missense probably damaging 1.00
R4688:Prelid3b UTSW 2 174466799 missense probably benign 0.17
R4735:Prelid3b UTSW 2 174465890 missense probably benign 0.00
R6973:Prelid3b UTSW 2 174469362 missense probably benign 0.10
R7684:Prelid3b UTSW 2 174468417 intron probably null
X0063:Prelid3b UTSW 2 174468302 missense probably benign 0.03
Posted On2013-06-21