Incidental Mutation 'IGL01347: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: 0.068) question?
Stock #IGL01347
Quality Score
Chromosomal Location51650954-51657681 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 51654788 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: M169K
SMART Domains Protein: ENSMUSP00000069562
Gene: ENSMUSG00000052563
AA Change: M169K

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in D930048N14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:D930048N14Rik APN 11 51653783 unclassified probably benign
IGL01419:D930048N14Rik APN 11 51654776 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
R8431:D930048N14Rik UTSW 11 51651119 frame shift probably null
R8505:D930048N14Rik UTSW 11 51651119 frame shift probably null
Posted On2013-10-07