Incidental Mutation 'IGL03274:1700037H04Rik'
List |< first << previous [record 20 of 9592] next >> last >|
ID415371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700037H04Rik
Ensembl Gene ENSMUSG00000027327
Gene NameRIKEN cDNA 1700037H04 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03274
Quality Score
Status
Chromosome2
Chromosomal Location131146324-131160081 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 131153592 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028800] [ENSMUST00000103188] [ENSMUST00000133602] [ENSMUST00000184121] [ENSMUST00000184535]
Predicted Effect silent
Transcript: ENSMUST00000028800
SMART Domains Protein: ENSMUSP00000028800
Gene: ENSMUSG00000027327

DomainStartEndE-ValueType
Pfam:DUF4517 30 177 1.6e-56 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103188
SMART Domains Protein: ENSMUSP00000099477
Gene: ENSMUSG00000027327

DomainStartEndE-ValueType
Pfam:DUF4517 27 174 1.1e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133602
SMART Domains Protein: ENSMUSP00000115000
Gene: ENSMUSG00000027327

DomainStartEndE-ValueType
Pfam:DUF4517 27 140 3.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152961
Predicted Effect probably benign
Transcript: ENSMUST00000184121
Predicted Effect probably benign
Transcript: ENSMUST00000184535
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anln C A 9: 22,382,269 R26M probably damaging Het
Capn15 A T 17: 25,961,838 S753T probably damaging Het
Ccdc62 A G 5: 123,954,680 N576S probably benign Het
Csmd3 T C 15: 47,645,504 D2895G probably damaging Het
Dspp T A 5: 104,174,948 V37E probably damaging Het
Efcab6 T C 15: 83,868,249 D1473G probably damaging Het
Ehhadh T C 16: 21,763,340 probably benign Het
Fbln1 T C 15: 85,232,678 probably null Het
Gbp9 A G 5: 105,082,786 V424A possibly damaging Het
Gda T C 19: 21,417,007 Y236C possibly damaging Het
Gm11639 A T 11: 104,721,093 D587V probably benign Het
Gm4884 A G 7: 41,044,545 E646G probably damaging Het
Gm4952 C A 19: 12,623,596 probably benign Het
Gm5422 G T 10: 31,250,352 noncoding transcript Het
Grin2b C T 6: 135,780,255 D403N possibly damaging Het
Hsf2bp G A 17: 32,007,770 R204C probably damaging Het
Il16 T C 7: 83,661,234 E488G probably damaging Het
Kat6b G T 14: 21,609,763 D212Y possibly damaging Het
Kctd2 A C 11: 115,429,382 I247L possibly damaging Het
Kel T A 6: 41,687,995 probably null Het
Krt20 A T 11: 99,430,029 probably benign Het
Litaf T C 16: 10,966,569 T26A probably damaging Het
N4bp2l2 G T 5: 150,661,466 Q350K probably damaging Het
Nav2 T G 7: 49,362,099 I26S probably damaging Het
Nfya A G 17: 48,391,347 Y162H probably damaging Het
Olfr117 C T 17: 37,659,755 A193T probably benign Het
Pbx4 A T 8: 69,866,550 S244C probably damaging Het
Pcdhb16 T C 18: 37,479,232 V415A probably benign Het
Rbbp8 A G 18: 11,741,076 probably benign Het
Sp100 T C 1: 85,707,304 Het
Spag16 A G 1: 69,844,381 probably benign Het
Star A G 8: 25,811,054 D138G possibly damaging Het
Other mutations in 1700037H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:1700037H04Rik APN 2 131151714 missense probably damaging 0.99
R6520:1700037H04Rik UTSW 2 131147254 missense probably damaging 1.00
Posted On2016-08-02