Incidental Mutation 'R6973:Prelid3b'
ID 543698
Institutional Source Beutler Lab
Gene Symbol Prelid3b
Ensembl Gene ENSMUSG00000016257
Gene Name PRELI domain containing 3B
Synonyms Slmo2, 2310042G06Rik
MMRRC Submission 045083-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R6973 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 174306884-174314734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 174311155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 59 (W59L)
Ref Sequence ENSEMBL: ENSMUSP00000016401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016401] [ENSMUST00000117442] [ENSMUST00000120822] [ENSMUST00000141100]
AlphaFold Q9CYY7
Predicted Effect probably benign
Transcript: ENSMUST00000016401
AA Change: W59L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000016401
Gene: ENSMUSG00000016257
AA Change: W59L

DomainStartEndE-ValueType
Pfam:PRELI 15 170 3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117442
SMART Domains Protein: ENSMUSP00000112686
Gene: ENSMUSG00000016257

DomainStartEndE-ValueType
Pfam:PRELI 1 80 1.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120822
SMART Domains Protein: ENSMUSP00000113522
Gene: ENSMUSG00000016257

DomainStartEndE-ValueType
Pfam:PRELI 1 80 1.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141100
Meta Mutation Damage Score 0.7360 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (37/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,760 (GRCm39) Y236C probably benign Het
Adamts12 T A 15: 11,331,866 (GRCm39) C1461* probably null Het
Akap9 A G 5: 4,096,699 (GRCm39) N2525D possibly damaging Het
Atp6v1c1 A G 15: 38,690,794 (GRCm39) N315S probably damaging Het
B3gnt7 G A 1: 86,233,109 (GRCm39) M1I probably null Het
C2cd4d G T 3: 94,271,130 (GRCm39) R132L probably damaging Het
Cd244a A G 1: 171,401,775 (GRCm39) Y167C probably damaging Het
Chd4 A G 6: 125,099,825 (GRCm39) N1666D possibly damaging Het
Cubn A G 2: 13,386,648 (GRCm39) I1539T possibly damaging Het
Dcdc2a A T 13: 25,304,372 (GRCm39) probably benign Het
Dgka C T 10: 128,565,463 (GRCm39) probably null Het
Ephb4 T G 5: 137,368,066 (GRCm39) V737G probably damaging Het
Etv2 T C 7: 30,334,167 (GRCm39) N189D probably benign Het
Exoc4 G T 6: 33,556,965 (GRCm39) C490F probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gpbp1l1 A G 4: 116,438,479 (GRCm39) M192V possibly damaging Het
Ireb2 A G 9: 54,789,671 (GRCm39) K115R probably benign Het
Mybpc1 T C 10: 88,396,223 (GRCm39) E208G possibly damaging Het
Nfic C A 10: 81,256,191 (GRCm39) A158S probably benign Het
Nos3 A T 5: 24,585,241 (GRCm39) I798L probably benign Het
Ntrk1 A T 3: 87,691,288 (GRCm39) L292Q probably damaging Het
Or52h7 G A 7: 104,214,183 (GRCm39) V252I probably benign Het
Or8u3-ps C T 2: 85,953,198 (GRCm39) T310I probably benign Het
Pcdhb2 G C 18: 37,429,416 (GRCm39) R463P probably benign Het
Pcdhgb6 A T 18: 37,875,526 (GRCm39) D78V possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Prex2 T G 1: 11,182,967 (GRCm39) S405R probably damaging Het
Rp1 G A 1: 4,422,217 (GRCm39) Q248* probably null Het
Rspo4 T A 2: 151,709,735 (GRCm39) C47S probably damaging Het
Ryr3 C A 2: 112,596,656 (GRCm39) M2499I probably damaging Het
Smarca5 A G 8: 81,431,380 (GRCm39) Y946H probably damaging Het
Spata31d1e A G 13: 59,890,521 (GRCm39) I433T probably benign Het
Tcn2 T C 11: 3,867,649 (GRCm39) *431W probably null Het
Tert A G 13: 73,776,107 (GRCm39) E286G probably benign Het
Tnni3 A G 7: 4,521,416 (GRCm39) I196T possibly damaging Het
Unc79 T C 12: 102,964,699 (GRCm39) I49T possibly damaging Het
Zfp687 A G 3: 94,916,688 (GRCm39) S813P possibly damaging Het
Znfx1 T A 2: 166,898,681 (GRCm39) H81L probably benign Het
Other mutations in Prelid3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Prelid3b APN 2 174,307,598 (GRCm39) unclassified probably benign
IGL01061:Prelid3b APN 2 174,307,614 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- AAGATGTGACTCCTGCTCCAG -3'
(R):5'- CTCGCTGTGGTAGAAGAATGG -3'

Sequencing Primer
(F):5'- AGGGCCAGCTTCCTGCAG -3'
(R):5'- GAAGAATGGTTTACCTCATCCGCAG -3'
Posted On 2019-05-13