Incidental Mutation 'IGL01419:D930048N14Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D930048N14Rik
Ensembl Gene ENSMUSG00000052563
Gene NameRIKEN cDNA D930048N14 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL01419
Quality Score
Chromosomal Location51650954-51657681 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 51654776 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000064493] [ENSMUST00000117859] [ENSMUST00000142721] [ENSMUST00000156835]
Predicted Effect probably benign
Transcript: ENSMUST00000001080
SMART Domains Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053

low complexity region 176 207 N/A INTRINSIC
low complexity region 232 249 N/A INTRINSIC
coiled coil region 295 334 N/A INTRINSIC
Pfam:Fez1 359 442 2.3e-21 PFAM
Pfam:Fez1 433 519 4e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000064493
AA Change: S165L
SMART Domains Protein: ENSMUSP00000069562
Gene: ENSMUSG00000052563
AA Change: S165L

low complexity region 35 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117859
SMART Domains Protein: ENSMUSP00000113687
Gene: ENSMUSG00000052563

low complexity region 35 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142721
Predicted Effect probably benign
Transcript: ENSMUST00000156835
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,048,121 S1323P probably damaging Het
Abca2 A T 2: 25,437,514 T672S probably damaging Het
Adamts14 A T 10: 61,205,542 probably benign Het
Adgrv1 T C 13: 81,557,158 E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 R584G probably damaging Het
Apob A T 12: 8,002,251 I1218F probably damaging Het
Atp5a1 T C 18: 77,777,533 S52P probably damaging Het
B4galnt3 A G 6: 120,215,390 S462P possibly damaging Het
Bdkrb1 A G 12: 105,604,781 H202R possibly damaging Het
Cd300lf T C 11: 115,126,354 K48E probably benign Het
Chuk A T 19: 44,096,981 I242K probably damaging Het
Csde1 A G 3: 103,038,770 T27A probably damaging Het
Depdc7 A T 2: 104,722,110 Y451N possibly damaging Het
Diaph3 C A 14: 86,965,553 G623* probably null Het
Dlc1 T C 8: 36,850,217 T435A probably benign Het
Dock8 A G 19: 25,119,452 S575G probably benign Het
Fbxw22 T A 9: 109,381,722 Y407F probably benign Het
Fzd4 C A 7: 89,407,735 A330E probably damaging Het
Gm17415 A G 1: 93,421,950 probably benign Het
Gm4788 T C 1: 139,739,644 probably null Het
Gnat1 C T 9: 107,679,434 probably null Het
Gtf3c4 T C 2: 28,835,069 Y76C probably damaging Het
Heatr5b G A 17: 78,796,510 H1079Y probably benign Het
Helz T G 11: 107,686,514 I1897S unknown Het
Hspa12a T C 19: 58,828,249 probably null Het
Kcne1 G T 16: 92,348,646 F103L probably benign Het
Lrrc20 A T 10: 61,548,095 S94C probably damaging Het
Lrrc8a A G 2: 30,257,099 T642A probably benign Het
Ly6g5b A G 17: 35,114,518 L106P probably benign Het
Lyst A G 13: 13,635,838 S698G probably benign Het
Ndrg1 A G 15: 66,931,051 V334A probably benign Het
Neb A T 2: 52,226,533 Y964* probably null Het
Olfr1047 A T 2: 86,228,629 I114N possibly damaging Het
Olfr1230 T C 2: 89,296,345 probably benign Het
Parp10 A G 15: 76,241,388 F497L probably damaging Het
Pdss1 A G 2: 22,935,577 M343V possibly damaging Het
Phactr3 C T 2: 178,279,062 T231I probably benign Het
Plekhh2 A T 17: 84,583,552 probably benign Het
Ppp1r12c A C 7: 4,486,352 probably null Het
Prdm2 G T 4: 143,133,648 P1024H probably damaging Het
Prkacb A T 3: 146,755,693 M1K probably null Het
Prkdc C A 16: 15,835,166 P3835Q probably damaging Het
Rps27a T C 11: 29,546,353 T87A probably benign Het
Ryr2 T A 13: 11,799,837 E683V possibly damaging Het
Sbk2 A G 7: 4,957,529 L214P probably damaging Het
Sema4g A G 19: 44,997,396 S250G probably benign Het
Slc27a6 T A 18: 58,609,209 D498E probably benign Het
Tarbp1 T C 8: 126,428,155 D1410G probably benign Het
Tas2r134 T A 2: 51,627,747 Y79* probably null Het
Tie1 T C 4: 118,476,098 D857G probably damaging Het
Tnk2 A G 16: 32,680,680 N432S probably damaging Het
Tubg2 C A 11: 101,159,057 D176E probably benign Het
Ugt2b34 A T 5: 86,891,405 W466R probably damaging Het
Usp47 T A 7: 112,087,911 M692K possibly damaging Het
Vmn2r106 T C 17: 20,279,545 K143E probably benign Het
Vmn2r118 G A 17: 55,593,000 L635F probably benign Het
Vmn2r16 C T 5: 109,362,401 probably benign Het
Vmn2r76 A T 7: 86,225,702 M689K probably benign Het
Xkr6 T C 14: 63,818,876 Y79H probably benign Het
Zdhhc6 A G 19: 55,309,754 F224L probably benign Het
Zfp493 T G 13: 67,786,802 I291M probably benign Het
Other mutations in D930048N14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:D930048N14Rik APN 11 51653783 unclassified probably benign
IGL01347:D930048N14Rik APN 11 51654788 unclassified probably benign
IGL02696:D930048N14Rik APN 11 51653994 unclassified probably benign
R0513:D930048N14Rik UTSW 11 51654928 unclassified probably benign
R1465:D930048N14Rik UTSW 11 51654913 unclassified probably benign
R1465:D930048N14Rik UTSW 11 51654913 unclassified probably benign
R1649:D930048N14Rik UTSW 11 51654836 unclassified probably benign
R1852:D930048N14Rik UTSW 11 51653865 unclassified probably benign
R3421:D930048N14Rik UTSW 11 51654958 makesense probably null
R3422:D930048N14Rik UTSW 11 51654958 makesense probably null
R4210:D930048N14Rik UTSW 11 51654805 unclassified probably benign
R5701:D930048N14Rik UTSW 11 51653729 splice site probably null
R6656:D930048N14Rik UTSW 11 51653749 unclassified probably benign
Posted On2013-11-05