Incidental Mutation 'IGL01546:1700016D06Rik'
ID90348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700016D06Rik
Ensembl Gene ENSMUSG00000031509
Gene NameRIKEN cDNA 1700016D06 gene
SynonymsGC14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL01546
Quality Score
Status
Chromosome8
Chromosomal Location11654924-11701063 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 11656136 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 133 (M133L)
Ref Sequence ENSEMBL: ENSMUSP00000033906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033906] [ENSMUST00000190741]
Predicted Effect probably benign
Transcript: ENSMUST00000033906
AA Change: M133L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033906
Gene: ENSMUSG00000031509
AA Change: M133L

DomainStartEndE-ValueType
Pfam:SPACA7 19 122 4.7e-34 PFAM
low complexity region 144 160 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000190741
AA Change: M1L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190787
Predicted Effect unknown
Transcript: ENSMUST00000191350
AA Change: M23L
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 C A 17: 24,163,600 R22L probably benign Het
Arg2 T C 12: 79,149,859 probably benign Het
Catip T C 1: 74,362,795 L43P probably damaging Het
Ccdc30 A C 4: 119,398,188 L123R probably damaging Het
Cep89 T C 7: 35,420,900 L369P probably damaging Het
Dolpp1 T C 2: 30,397,095 F180L probably damaging Het
Kctd19 T C 8: 105,386,962 H670R probably benign Het
Kntc1 T A 5: 123,765,005 I315N probably benign Het
Mfsd4b2 A T 10: 39,921,475 W295R probably damaging Het
Mgam A G 6: 40,654,693 T116A probably damaging Het
Mn1 A T 5: 111,421,248 D1028V probably damaging Het
Olfr19 A G 16: 16,673,265 S239P probably damaging Het
Olfr23 G A 11: 73,941,194 G316D probably benign Het
Olfr592 A T 7: 103,187,410 I270F probably damaging Het
Olfr690 T C 7: 105,329,692 R167G probably damaging Het
Olfr694 A G 7: 106,689,531 S67P probably damaging Het
Olfr845 T G 9: 19,338,772 V104G possibly damaging Het
Phc3 C A 3: 30,961,739 A108S probably damaging Het
Pkhd1l1 A G 15: 44,566,316 Y3310C probably damaging Het
Ppp4r3b T C 11: 29,209,488 probably null Het
Slx4ip A G 2: 137,066,199 T159A probably benign Het
Sos1 T A 17: 80,408,611 Y974F probably damaging Het
Taar8a A T 10: 24,076,915 Y139F possibly damaging Het
Vcam1 A G 3: 116,115,942 C579R possibly damaging Het
Zdhhc17 C T 10: 110,946,193 V547M probably damaging Het
Other mutations in 1700016D06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0462:1700016D06Rik UTSW 8 11661749 intron probably benign
R4306:1700016D06Rik UTSW 8 11678590 missense probably damaging 0.98
R6541:1700016D06Rik UTSW 8 11662613 missense probably benign 0.03
R6783:1700016D06Rik UTSW 8 11655661 nonsense probably null
R6788:1700016D06Rik UTSW 8 11678584 missense possibly damaging 0.85
R7844:1700016D06Rik UTSW 8 11656174 missense probably benign 0.01
R8158:1700016D06Rik UTSW 8 11665056 missense probably damaging 0.99
Posted On2013-12-03