Incidental Mutation 'IGL01701:4930568D16Rik'
ID104459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930568D16Rik
Ensembl Gene ENSMUSG00000026882
Gene NameRIKEN cDNA 4930568D16 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #IGL01701
Quality Score
Status
Chromosome2
Chromosomal Location35354218-35367729 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35364764 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 36 (Y36H)
Ref Sequence ENSEMBL: ENSMUSP00000028243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028243]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028243
AA Change: Y36H

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: Y36H

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 11 319 1.3e-101 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Olfr1314 T C 2: 112,092,506 N65S possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in 4930568D16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:4930568D16Rik APN 2 35355628 missense probably benign 0.36
IGL02049:4930568D16Rik APN 2 35364789 missense probably benign 0.03
R0112:4930568D16Rik UTSW 2 35354803 missense probably benign 0.06
R1778:4930568D16Rik UTSW 2 35354983 missense probably damaging 1.00
R2398:4930568D16Rik UTSW 2 35354860 missense possibly damaging 0.86
R3846:4930568D16Rik UTSW 2 35354558 missense probably damaging 1.00
R4648:4930568D16Rik UTSW 2 35354446 missense probably damaging 1.00
R5239:4930568D16Rik UTSW 2 35354836 missense probably benign 0.38
R5418:4930568D16Rik UTSW 2 35354726 missense probably damaging 1.00
R5889:4930568D16Rik UTSW 2 35354449 missense probably damaging 1.00
R5951:4930568D16Rik UTSW 2 35354799 missense probably damaging 1.00
R6014:4930568D16Rik UTSW 2 35354869 missense probably benign 0.00
R6091:4930568D16Rik UTSW 2 35362336 missense possibly damaging 0.77
Posted On2014-01-21