Incidental Mutation 'IGL02357:3110035E14Rik'
ID290586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 3110035E14Rik
Ensembl Gene ENSMUSG00000067879
Gene NameRIKEN cDNA 3110035E14 gene
SynonymsR75066
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02357
Quality Score
Status
Chromosome1
Chromosomal Location9601199-9627143 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9613319 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 44 (I44T)
Ref Sequence ENSEMBL: ENSMUSP00000086041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088666]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088666
AA Change: I44T

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086041
Gene: ENSMUSG00000067879
AA Change: I44T

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Pfam:DUF4648 42 207 2.2e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153239
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,461,477 V169A probably benign Het
Adamts16 T A 13: 70,738,585 T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 C6007F probably benign Het
Ak8 A T 2: 28,700,213 H8L probably benign Het
Apol7b A G 15: 77,423,632 V221A probably benign Het
BC005624 G A 2: 30,973,767 P235S probably benign Het
Casp9 C A 4: 141,805,472 D226E probably benign Het
Cd96 A G 16: 46,069,776 probably benign Het
Celf1 A T 2: 90,998,588 K27I probably damaging Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Cyp3a59 T C 5: 146,079,342 L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Emb A G 13: 117,249,471 probably benign Het
Fbn2 G T 18: 58,103,995 N645K possibly damaging Het
Fes T C 7: 80,383,830 probably null Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gm5145 A T 17: 20,570,440 I27F probably damaging Het
Hecw1 A G 13: 14,248,338 probably null Het
Hook2 C T 8: 84,994,985 Q291* probably null Het
Jakmip2 T C 18: 43,547,127 T722A possibly damaging Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Ngdn T A 14: 55,021,936 V179E probably damaging Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1349 T A 7: 6,515,226 M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 L140P probably damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Plcb3 A C 19: 6,958,178 L789R probably damaging Het
Plek C T 11: 16,981,846 R335H probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rusc2 T G 4: 43,425,351 V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Slc22a22 A G 15: 57,247,448 V461A probably benign Het
Slc35e4 C T 11: 3,912,640 R183Q probably benign Het
Spen T C 4: 141,477,579 T1246A unknown Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tpgs1 A G 10: 79,675,759 D245G probably benign Het
Ttn A G 2: 76,709,619 V34341A probably benign Het
Wwox T C 8: 114,712,142 V316A possibly damaging Het
Other mutations in 3110035E14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02350:3110035E14Rik APN 1 9613319 missense possibly damaging 0.88
R0598:3110035E14Rik UTSW 1 9619842 missense probably benign 0.02
R1918:3110035E14Rik UTSW 1 9601627 missense probably damaging 0.99
R4732:3110035E14Rik UTSW 1 9606976 missense probably benign
R4733:3110035E14Rik UTSW 1 9606976 missense probably benign
R5161:3110035E14Rik UTSW 1 9622677 nonsense probably null
R6372:3110035E14Rik UTSW 1 9613321 missense probably damaging 0.98
Posted On2015-04-16