Incidental Mutation 'IGL01738:4933405L10Rik'
ID105761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933405L10Rik
Ensembl Gene ENSMUSG00000013158
Gene NameRIKEN cDNA 4933405L10 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01738
Quality Score
Status
Chromosome8
Chromosomal Location105707655-105710246 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105710036 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 288 (D288V)
Ref Sequence ENSEMBL: ENSMUSP00000013302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013294] [ENSMUST00000013299] [ENSMUST00000013302] [ENSMUST00000211852] [ENSMUST00000212061]
Predicted Effect probably benign
Transcript: ENSMUST00000013294
SMART Domains Protein: ENSMUSP00000013294
Gene: ENSMUSG00000013150

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 6 119 3.7e-14 PFAM
low complexity region 169 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000013299
SMART Domains Protein: ENSMUSP00000013299
Gene: ENSMUSG00000013155

DomainStartEndE-ValueType
low complexity region 220 236 N/A INTRINSIC
Pfam:Enkurin 243 339 6.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000013302
AA Change: D288V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000013302
Gene: ENSMUSG00000013158
AA Change: D288V

DomainStartEndE-ValueType
Pfam:DUF4691 1 162 3.3e-71 PFAM
low complexity region 200 216 N/A INTRINSIC
low complexity region 252 275 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000211852
AA Change: D279V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000212061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212716
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a G A 13: 30,381,038 V29I probably benign Het
Akap6 G T 12: 52,886,817 C364F probably damaging Het
Calcrl T G 2: 84,370,449 M84L probably benign Het
Cep128 C A 12: 91,230,842 G402C probably damaging Het
Cfap43 A G 19: 47,797,185 L422P probably damaging Het
Cnbd2 C A 2: 156,375,617 probably benign Het
Col27a1 A G 4: 63,263,779 probably benign Het
Cyp3a44 A G 5: 145,794,935 S134P probably damaging Het
Dync2h1 A C 9: 7,114,922 L179R possibly damaging Het
Ell T A 8: 70,581,681 probably null Het
Gfm1 A G 3: 67,456,661 E490G probably benign Het
Glt1d1 T G 5: 127,632,355 probably benign Het
Gm10267 A T 18: 44,159,275 I10K possibly damaging Het
Htra4 A G 8: 25,025,711 V437A probably damaging Het
Ighv1-69 T C 12: 115,623,441 Q24R possibly damaging Het
Igkv14-111 G A 6: 68,256,459 probably benign Het
Ipcef1 A T 10: 6,890,575 I374N probably damaging Het
Iqgap1 T C 7: 80,723,900 D1447G possibly damaging Het
Mast4 A G 13: 102,737,241 F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 N42I possibly damaging Het
Mybpc1 G T 10: 88,570,645 F126L probably damaging Het
Myo1e A G 9: 70,359,370 K631E probably damaging Het
Olfr902 A C 9: 38,449,646 Y258S probably damaging Het
Pcsk5 T A 19: 17,433,780 probably benign Het
Serpina3b T G 12: 104,130,832 L124R probably damaging Het
Srgap2 T C 1: 131,296,426 I95V probably benign Het
Sstr5 A T 17: 25,491,610 I215N probably damaging Het
Top3b G A 16: 16,880,604 V104M probably benign Het
Tspan8 G A 10: 115,817,665 probably null Het
Vmn2r102 A G 17: 19,677,758 Y345C probably damaging Het
Vmn2r17 G A 5: 109,429,498 G472S probably damaging Het
Zmpste24 A T 4: 121,061,111 L438Q probably damaging Het
Other mutations in 4933405L10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:4933405L10Rik APN 8 105708935 missense probably benign
R0096:4933405L10Rik UTSW 8 105708931 splice site probably null
R0096:4933405L10Rik UTSW 8 105708931 splice site probably null
R0396:4933405L10Rik UTSW 8 105709780 missense probably benign 0.06
R0711:4933405L10Rik UTSW 8 105708931 splice site probably null
R1037:4933405L10Rik UTSW 8 105709512 missense probably benign 0.32
R1816:4933405L10Rik UTSW 8 105709859 missense possibly damaging 0.50
R1843:4933405L10Rik UTSW 8 105708974 missense probably damaging 0.98
R4332:4933405L10Rik UTSW 8 105709724 missense possibly damaging 0.92
R4868:4933405L10Rik UTSW 8 105710097 makesense probably null
R5072:4933405L10Rik UTSW 8 105709569 missense possibly damaging 0.71
R5285:4933405L10Rik UTSW 8 105708465 missense probably benign
R5656:4933405L10Rik UTSW 8 105709512 missense probably benign 0.32
R6196:4933405L10Rik UTSW 8 105709922 missense possibly damaging 0.92
R6524:4933405L10Rik UTSW 8 105709009 missense possibly damaging 0.71
R6657:4933405L10Rik UTSW 8 105708818 missense probably damaging 0.98
Z1088:4933405L10Rik UTSW 8 105709763 missense probably damaging 1.00
Z1177:4933405L10Rik UTSW 8 105709973 missense possibly damaging 0.91
Z1177:4933405L10Rik UTSW 8 105709975 missense possibly damaging 0.73
Posted On2014-01-21