Incidental Mutation 'IGL02726:4933417A18Rik'
ID305200
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: 0.060) question?
Stock #IGL02726
Quality Score
Status
Chromosome13
Chromosomal Location34924409-34955875 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 34952960 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021853] [ENSMUST00000160279] [ENSMUST00000160905] [ENSMUST00000164155]
Predicted Effect probably benign
Transcript: ENSMUST00000021853
SMART Domains Protein: ENSMUSP00000021853
Gene: ENSMUSG00000021416

DomainStartEndE-ValueType
Pfam:ACBP 1 42 3.4e-10 PFAM
Pfam:ECH_1 67 314 4.7e-41 PFAM
Pfam:ECH_2 72 316 1e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160279
AA Change: N227S
SMART Domains Protein: ENSMUSP00000125324
Gene: ENSMUSG00000021415
AA Change: N227S

DomainStartEndE-ValueType
Pfam:DUF4523 34 199 1.1e-89 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160905
AA Change: N227S
SMART Domains Protein: ENSMUSP00000125206
Gene: ENSMUSG00000021415
AA Change: N227S

DomainStartEndE-ValueType
Pfam:DUF4523 34 199 9.5e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164155
SMART Domains Protein: ENSMUSP00000132701
Gene: ENSMUSG00000021416

DomainStartEndE-ValueType
Pfam:ACBP 1 45 4.4e-10 PFAM
Pfam:ECH 65 260 5.4e-36 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Ikbkap T A 4: 56,767,878 probably null Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in 4933417A18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:4933417A18Rik APN 13 34924533 unclassified probably null
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
Posted On2015-04-16