Incidental Mutation 'R3428:Prelid1'
ID 267970
Institutional Source Beutler Lab
Gene Symbol Prelid1
Ensembl Gene ENSMUSG00000021486
Gene Name PRELI domain containing 1
Synonyms 2610524G07Rik
MMRRC Submission 040646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3428 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55469868-55473085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55470007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 2 (V2G)
Ref Sequence ENSEMBL: ENSMUSP00000021942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021941] [ENSMUST00000021942] [ENSMUST00000035242] [ENSMUST00000099490] [ENSMUST00000224685]
AlphaFold Q8R107
Predicted Effect probably benign
Transcript: ENSMUST00000021941
SMART Domains Protein: ENSMUSP00000021941
Gene: ENSMUSG00000021485

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
HLH 63 115 5.8e-11 SMART
low complexity region 119 138 N/A INTRINSIC
low complexity region 148 167 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021942
AA Change: V2G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021942
Gene: ENSMUSG00000021486
AA Change: V2G

DomainStartEndE-ValueType
Pfam:PRELI 16 172 1.9e-61 PFAM
coiled coil region 178 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035242
SMART Domains Protein: ENSMUSP00000046188
Gene: ENSMUSG00000034789

DomainStartEndE-ValueType
RAB 8 175 2.39e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099490
SMART Domains Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488

DomainStartEndE-ValueType
low complexity region 177 187 N/A INTRINSIC
low complexity region 281 289 N/A INTRINSIC
PWWP 322 388 1.97e-3 SMART
low complexity region 635 644 N/A INTRINSIC
low complexity region 980 1000 N/A INTRINSIC
low complexity region 1296 1309 N/A INTRINSIC
PHD 1546 1588 4.25e-8 SMART
PHD 1593 1640 3.79e-5 SMART
RING 1594 1639 1.08e-1 SMART
PHD 1641 1694 1.09e1 SMART
PHD 1710 1750 1.02e-10 SMART
PWWP 1755 1817 8.87e-29 SMART
AWS 1891 1942 3.02e-22 SMART
SET 1943 2066 1e-45 SMART
PostSET 2067 2083 3.99e-3 SMART
PHD 2121 2164 1.08e-9 SMART
low complexity region 2224 2237 N/A INTRINSIC
low complexity region 2276 2286 N/A INTRINSIC
low complexity region 2335 2356 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146181
Predicted Effect probably benign
Transcript: ENSMUST00000224685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224220
Meta Mutation Damage Score 0.1284 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (34/34)
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 late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a B cell specific deletion of this gene are viable and fertile with no discernible B cell abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C A 8: 25,157,620 (GRCm39) C110F probably damaging Het
Adamts14 C T 10: 61,060,153 (GRCm39) E452K probably benign Het
Adrb3 T C 8: 27,718,209 (GRCm39) D80G probably damaging Het
Alg5 T A 3: 54,643,006 (GRCm39) M1K probably null Het
Ap1g1 A G 8: 110,570,080 (GRCm39) E398G probably damaging Het
Arhgap17 A T 7: 122,922,854 (GRCm39) L85Q probably damaging Het
Bbs9 T A 9: 22,479,183 (GRCm39) probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Bicd1 T C 6: 149,414,400 (GRCm39) L371P probably damaging Het
Cand2 A C 6: 115,766,668 (GRCm39) R424S probably benign Het
Eng G T 2: 32,547,545 (GRCm39) V29F probably damaging Het
Gm5828 T A 1: 16,838,838 (GRCm39) noncoding transcript Het
Hspg2 T C 4: 137,282,601 (GRCm39) L3447P probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Kmt2a T A 9: 44,759,416 (GRCm39) N844I probably benign Het
Lyzl4 T C 9: 121,413,195 (GRCm39) I78V probably null Het
Mtg2 A G 2: 179,726,065 (GRCm39) H225R possibly damaging Het
Or10a5 G A 7: 106,635,923 (GRCm39) R187K probably benign Het
Pfpl T A 19: 12,407,677 (GRCm39) S643T probably benign Het
Psma2 A T 13: 14,791,362 (GRCm39) K2N probably benign Het
Sec24d C T 3: 123,137,572 (GRCm39) probably benign Het
Setd1a G T 7: 127,384,493 (GRCm39) probably benign Het
Slc20a1 A T 2: 129,042,202 (GRCm39) N149I probably benign Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav6-7-dv9 A G 14: 53,947,788 (GRCm39) T97A probably benign Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Ubr2 T C 17: 47,279,365 (GRCm39) Y681C probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r125 A G 4: 156,702,436 (GRCm39) D74G probably benign Het
Yipf2 T C 9: 21,500,941 (GRCm39) probably benign Het
Other mutations in Prelid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02967:Prelid1 APN 13 55,472,219 (GRCm39) missense probably benign 0.03
R0316:Prelid1 UTSW 13 55,472,220 (GRCm39) missense possibly damaging 0.90
R0613:Prelid1 UTSW 13 55,472,156 (GRCm39) nonsense probably null
R3426:Prelid1 UTSW 13 55,470,007 (GRCm39) missense probably benign 0.00
R7359:Prelid1 UTSW 13 55,469,088 (GRCm39) unclassified probably benign
R8407:Prelid1 UTSW 13 55,470,672 (GRCm39) missense probably damaging 1.00
R8419:Prelid1 UTSW 13 55,470,698 (GRCm39) missense probably damaging 1.00
R8497:Prelid1 UTSW 13 55,470,833 (GRCm39) missense probably damaging 1.00
R9168:Prelid1 UTSW 13 55,470,010 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTCGTGCAGTCCTATAACCC -3'
(R):5'- TTGTGCTATAACTGTGGCCAC -3'

Sequencing Primer
(F):5'- GTGCAGTCCTATAACCCCTGATGG -3'
(R):5'- GATAGCCCACATCGGACTCTGTC -3'
Posted On 2015-02-18