Incidental Mutation 'IGL01527:2300002M23Rik'
List |< first << previous [record 97 of 18188] next >> last >|
ID89620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2300002M23Rik
Ensembl Gene ENSMUSG00000039269
Gene NameRIKEN cDNA 2300002M23 gene
Synonymsemprin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL01527
Quality Score
Status
Chromosome17
Chromosomal Location35567450-35568952 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) G to T at 35567833 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044326]
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: 9,290,788 W884R possibly damaging Het
Ahi1 T C 10: 20,960,085 probably benign Het
Ankfn1 G T 11: 89,391,639 P394Q probably benign Het
AW549877 T C 15: 3,988,683 Y170C probably damaging Het
Cacnb2 T C 2: 14,984,270 I393T possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col22a1 T C 15: 71,907,031 E269G probably damaging Het
Cyp24a1 A G 2: 170,496,566 L70P probably damaging Het
Cyp8b1 T C 9: 121,914,995 K424E probably damaging Het
Dicer1 G A 12: 104,691,610 Q1902* probably null Het
Dst T A 1: 34,247,653 L544Q probably damaging Het
Esrp2 T C 8: 106,132,233 T591A probably benign Het
Gap43 C T 16: 42,292,153 E82K probably benign Het
Kif17 G A 4: 138,269,086 V125I probably benign Het
Lancl2 T C 6: 57,732,322 S370P probably damaging Het
Macf1 T C 4: 123,493,160 I203V possibly damaging Het
Mphosph9 A G 5: 124,283,624 probably benign Het
Ncapg A G 5: 45,672,384 I143V possibly damaging Het
Nr3c1 A G 18: 39,486,637 V199A probably benign Het
Obscn T A 11: 59,064,417 N3890I possibly damaging Het
Olfr130 A G 17: 38,068,095 N308S probably benign Het
Olfr669 T A 7: 104,938,991 V155E possibly damaging Het
Olfr92 A T 17: 37,111,809 Y58N probably damaging Het
Olfr951 A G 9: 39,393,818 H6R probably benign Het
Palmd C A 3: 116,927,188 E166* probably null Het
Pdzd2 T C 15: 12,445,664 E327G probably damaging Het
Pex13 T C 11: 23,656,111 T40A probably benign Het
Pkd2 T C 5: 104,498,884 probably benign Het
Plb1 A G 5: 32,317,123 T643A probably damaging Het
Prlr T A 15: 10,329,171 D577E probably benign Het
Slc44a3 A G 3: 121,527,128 C75R probably damaging Het
Susd6 A T 12: 80,874,319 N230I possibly damaging Het
Tbx10 A G 19: 3,998,227 R251G probably damaging Het
Ttc30a1 T C 2: 75,980,516 I408V probably benign Het
Uap1l1 A G 2: 25,363,804 probably null Het
Ugt2b5 A G 5: 87,136,209 V308A possibly damaging Het
Usp28 C A 9: 49,025,873 H147Q probably benign Het
Vmn1r203 T C 13: 22,524,277 I76T possibly damaging Het
Vmn2r104 A G 17: 20,042,896 I101T possibly damaging Het
Vmn2r17 T A 5: 109,453,140 L768H probably damaging Het
Other mutations in 2300002M23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02604:2300002M23Rik APN 17 35567948 missense probably benign 0.01
R1154:2300002M23Rik UTSW 17 35568776 missense probably damaging 1.00
R2184:2300002M23Rik UTSW 17 35568218 missense probably benign
R2406:2300002M23Rik UTSW 17 35568455 missense probably damaging 0.96
R3824:2300002M23Rik UTSW 17 35567611 missense probably benign
R4739:2300002M23Rik UTSW 17 35567506 utr 5 prime probably benign
R4936:2300002M23Rik UTSW 17 35568315 missense possibly damaging 0.92
R5318:2300002M23Rik UTSW 17 35567986 missense possibly damaging 0.95
R5459:2300002M23Rik UTSW 17 35568182 missense possibly damaging 0.91
R6453:2300002M23Rik UTSW 17 35568212 missense possibly damaging 0.71
R6761:2300002M23Rik UTSW 17 35567948 missense probably benign 0.01
Posted On2013-12-03