Incidental Mutation 'IGL01992:4933417A18Rik'
ID183586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933417A18Rik
Ensembl Gene ENSMUSG00000021415
Gene NameRIKEN cDNA 4933417A18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01992
Quality Score
Status
Chromosome13
Chromosomal Location34924409-34955875 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 34924533 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000160279] [ENSMUST00000160905] [ENSMUST00000223834]
Predicted Effect probably null
Transcript: ENSMUST00000021851
SMART Domains Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:FAM217 206 411 2e-54 PFAM
low complexity region 425 436 N/A INTRINSIC
low complexity region 444 455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160279
SMART Domains Protein: ENSMUSP00000125324
Gene: ENSMUSG00000021415

DomainStartEndE-ValueType
Pfam:DUF4523 34 199 1.1e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160905
SMART Domains Protein: ENSMUSP00000125206
Gene: ENSMUSG00000021415

DomainStartEndE-ValueType
Pfam:DUF4523 34 199 9.5e-102 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000223834
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano3 A G 2: 110,658,219 M956T probably damaging Het
Ap2b1 T G 11: 83,335,530 V289G probably damaging Het
Asna1 G A 8: 85,018,556 A294V possibly damaging Het
Cacnb4 G T 2: 52,465,670 H208Q probably damaging Het
Cd5l G A 3: 87,367,811 R219Q probably benign Het
Dzip1l G T 9: 99,663,686 G663W probably damaging Het
Ecel1 G A 1: 87,149,855 probably benign Het
Eno1 A G 4: 150,239,536 T19A probably damaging Het
Fam26f A T 10: 34,127,537 C125S probably damaging Het
Fam46c A T 3: 100,472,630 M270K probably damaging Het
Fndc3a G A 14: 72,574,556 T315I probably benign Het
Galr1 T C 18: 82,393,817 N308S probably damaging Het
Maf A T 8: 115,705,963 S301T probably damaging Het
Map3k5 C T 10: 20,029,133 R394* probably null Het
Mroh8 C T 2: 157,213,696 G994D probably damaging Het
Myo10 T C 15: 25,799,548 V653A possibly damaging Het
Nucks1 A G 1: 131,931,090 K196E unknown Het
Nupl2 T C 5: 24,181,103 V211A probably benign Het
Olfr18 A T 9: 20,314,719 I59N probably damaging Het
Olfr732 C A 14: 50,281,341 R304L probably benign Het
Olfr851 A T 9: 19,496,774 I9F probably benign Het
Piwil1 C T 5: 128,747,332 T493I probably null Het
Plcd1 T C 9: 119,075,985 H216R probably benign Het
Pmp2 A T 3: 10,182,481 Y49* probably null Het
Rnf38 A G 4: 44,138,806 V229A probably damaging Het
Saxo2 T C 7: 82,634,900 D250G probably damaging Het
Scn8a T G 15: 100,969,057 V98G probably damaging Het
Scnn1a T A 6: 125,338,937 probably null Het
Sepsecs C T 5: 52,644,060 R420Q probably benign Het
Slit2 T C 5: 48,238,417 S725P probably benign Het
Stk16 A G 1: 75,213,191 Q207R probably benign Het
Tapt1 C T 5: 44,178,990 V446M probably damaging Het
Tnni3k A C 3: 154,962,026 V250G probably damaging Het
Ttll8 C T 15: 88,915,645 G531E possibly damaging Het
U2surp A G 9: 95,482,181 F561L probably damaging Het
U2surp T A 9: 95,464,419 E862D possibly damaging Het
Unc5d A G 8: 28,652,791 Y878H probably damaging Het
Ust A G 10: 8,298,078 M221T probably benign Het
Wasf3 T C 5: 146,455,591 F157S probably damaging Het
Wdr64 G A 1: 175,706,071 C91Y probably damaging Het
Zan T C 5: 137,424,106 Y2750C unknown Het
Other mutations in 4933417A18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:4933417A18Rik APN 13 34952960 intron probably benign
IGL03241:4933417A18Rik APN 13 34944330 missense probably damaging 0.98
R0324:4933417A18Rik UTSW 13 34924613 missense probably benign
R0394:4933417A18Rik UTSW 13 34932653 splice site probably benign
R0409:4933417A18Rik UTSW 13 34924549 missense probably benign 0.08
R1639:4933417A18Rik UTSW 13 34944250 missense possibly damaging 0.93
R1861:4933417A18Rik UTSW 13 34932507 missense possibly damaging 0.80
R2054:4933417A18Rik UTSW 13 34924591 missense probably damaging 0.99
R4625:4933417A18Rik UTSW 13 34932465 missense probably damaging 1.00
R4932:4933417A18Rik UTSW 13 34932630 missense possibly damaging 0.95
R5875:4933417A18Rik UTSW 13 34932446 missense probably damaging 0.99
R7837:4933417A18Rik UTSW 13 34944376 missense possibly damaging 0.85
R7920:4933417A18Rik UTSW 13 34944376 missense possibly damaging 0.85
Posted On2014-05-07