Incidental Mutation 'IGL01527:2300002M23Rik'
ID 89620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2300002M23Rik
Ensembl Gene ENSMUSG00000039269
Gene Name RIKEN cDNA 2300002M23 gene
Synonyms emprin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL01527
Quality Score
Status
Chromosome 17
Chromosomal Location 35878382-35879842 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to T at 35878730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044326]
AlphaFold Q8BM15
Predicted Effect probably null
Transcript: ENSMUST00000044326
SMART Domains Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:STG 34 260 4.8e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174246
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Female homozygous null mice exhibit reduced body weight and total body fat. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
Palmd C A 3: 116,720,837 (GRCm39) E166* probably null 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 2300002M23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02604:2300002M23Rik APN 17 35,878,845 (GRCm39) missense probably benign 0.01
R1154:2300002M23Rik UTSW 17 35,879,673 (GRCm39) missense probably damaging 1.00
R2184:2300002M23Rik UTSW 17 35,879,115 (GRCm39) missense probably benign
R2406:2300002M23Rik UTSW 17 35,879,352 (GRCm39) missense probably damaging 0.96
R3824:2300002M23Rik UTSW 17 35,878,508 (GRCm39) missense probably benign
R4739:2300002M23Rik UTSW 17 35,878,403 (GRCm39) utr 5 prime probably benign
R4936:2300002M23Rik UTSW 17 35,879,212 (GRCm39) missense possibly damaging 0.92
R5318:2300002M23Rik UTSW 17 35,878,883 (GRCm39) missense possibly damaging 0.95
R5459:2300002M23Rik UTSW 17 35,879,079 (GRCm39) missense possibly damaging 0.91
R6453:2300002M23Rik UTSW 17 35,879,109 (GRCm39) missense possibly damaging 0.71
R6761:2300002M23Rik UTSW 17 35,878,845 (GRCm39) missense probably benign 0.01
R7847:2300002M23Rik UTSW 17 35,879,549 (GRCm39) missense probably benign
R9406:2300002M23Rik UTSW 17 35,879,487 (GRCm39) missense possibly damaging 0.96
RF010:2300002M23Rik UTSW 17 35,879,473 (GRCm39) small deletion probably benign
Posted On 2013-12-03