Incidental Mutation 'IGL01935:D230025D16Rik'
ID180600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D230025D16Rik
Ensembl Gene ENSMUSG00000031889
Gene NameRIKEN cDNA D230025D16 gene
SynonymsLin10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.247) question?
Stock #IGL01935
Quality Score
Status
Chromosome8
Chromosomal Location105225145-105253053 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105240001 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 127 (F127L)
Ref Sequence ENSEMBL: ENSMUSP00000119148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034361] [ENSMUST00000124113] [ENSMUST00000132964] [ENSMUST00000141957]
Predicted Effect probably damaging
Transcript: ENSMUST00000034361
AA Change: F127L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
AA Change: F127L

DomainStartEndE-ValueType
Pfam:UPF0183 15 407 1.7e-161 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124113
SMART Domains Protein: ENSMUSP00000119743
Gene: ENSMUSG00000031889

DomainStartEndE-ValueType
Pfam:UPF0183 13 120 1.9e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132964
AA Change: F105L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123583
Gene: ENSMUSG00000031889
AA Change: F105L

DomainStartEndE-ValueType
Pfam:UPF0183 1 117 1.4e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141957
AA Change: F127L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889
AA Change: F127L

DomainStartEndE-ValueType
Pfam:UPF0183 13 161 2.8e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156561
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,637,657 probably benign Het
Akr1c12 A T 13: 4,272,245 V266E probably damaging Het
Arhgef1 A G 7: 24,921,882 T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 T801A probably benign Het
Card11 T A 5: 140,883,546 I832F possibly damaging Het
Catsperg1 T C 7: 29,195,871 probably null Het
Ccdc180 A G 4: 45,906,889 T455A possibly damaging Het
Cfhr1 T A 1: 139,551,002 Y210F probably benign Het
Chrna5 T C 9: 55,004,843 V309A probably benign Het
Clstn2 A G 9: 97,463,468 V609A probably damaging Het
Dnah6 T C 6: 73,060,143 D3372G probably benign Het
Dtymk T C 1: 93,794,743 K113E probably benign Het
Eef2k T C 7: 120,885,831 F307S probably damaging Het
Flnc T A 6: 29,454,280 V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Herc2 A G 7: 56,153,793 Y2192C probably benign Het
Hkdc1 A T 10: 62,400,386 V459E probably damaging Het
Iqsec3 T C 6: 121,383,992 D969G probably damaging Het
Irf3 A G 7: 45,000,770 T237A probably benign Het
Jade2 G A 11: 51,828,384 T245I possibly damaging Het
Kctd8 A G 5: 69,340,364 I313T possibly damaging Het
Kdm5a T A 6: 120,408,323 S835R probably benign Het
Lama2 A C 10: 27,422,604 H165Q probably damaging Het
Lrp1b T A 2: 41,268,355 N1617Y probably damaging Het
Mcc C T 18: 44,519,516 probably null Het
Mfsd14b T A 13: 65,067,925 M405L probably benign Het
Myom3 T A 4: 135,788,381 F794I probably damaging Het
Napsa G T 7: 44,586,622 A362S probably benign Het
Ncf4 A T 15: 78,255,986 D195V probably damaging Het
Olfr738 T C 14: 50,413,555 F4L probably benign Het
Pank4 T G 4: 154,979,530 D659E probably damaging Het
Pcnx T A 12: 81,917,816 D252E probably benign Het
Pglyrp2 G A 17: 32,418,577 A159V probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Ppfia4 A G 1: 134,317,936 S627P probably benign Het
Ppp1r15b T C 1: 133,132,023 F93L probably benign Het
Pramef12 C T 4: 144,392,602 probably benign Het
Qrfpr A T 3: 36,181,051 probably null Het
Rapgef4 C A 2: 72,234,123 T623K probably benign Het
Rapgef6 A G 11: 54,610,842 T184A possibly damaging Het
Ssrp1 T C 2: 85,046,712 *709Q probably null Het
St7 T G 6: 17,930,823 I442S probably damaging Het
Syne2 T A 12: 75,925,313 H992Q probably damaging Het
Syt14 T C 1: 192,933,371 R436G probably damaging Het
Tbc1d5 A G 17: 50,963,765 probably benign Het
Thsd7a T A 6: 12,317,419 N1630I probably damaging Het
Tinagl1 T C 4: 130,168,001 K180R probably damaging Het
Tmed7 T C 18: 46,597,123 T54A probably benign Het
Tmprss2 A T 16: 97,578,595 Y48* probably null Het
Tns2 C T 15: 102,111,634 probably null Het
Unc13d T C 11: 116,069,751 M496V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zbtb39 A G 10: 127,742,366 T270A probably benign Het
Zfr T C 15: 12,180,712 S976P probably benign Het
Zscan29 A G 2: 121,170,057 F23S probably damaging Het
Other mutations in D230025D16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02058:D230025D16Rik APN 8 105239709 missense probably damaging 1.00
IGL02162:D230025D16Rik APN 8 105239973 splice site probably benign
IGL02264:D230025D16Rik APN 8 105234546 missense possibly damaging 0.67
IGL02512:D230025D16Rik APN 8 105234478 splice site probably benign
FR4340:D230025D16Rik UTSW 8 105241098 missense probably benign
FR4342:D230025D16Rik UTSW 8 105241098 missense probably benign
FR4589:D230025D16Rik UTSW 8 105241098 missense probably benign
R0564:D230025D16Rik UTSW 8 105239971 splice site probably benign
R1458:D230025D16Rik UTSW 8 105246556 critical splice donor site probably null
R1705:D230025D16Rik UTSW 8 105238472 splice site probably benign
R1860:D230025D16Rik UTSW 8 105240071 missense probably null 1.00
R1861:D230025D16Rik UTSW 8 105240071 missense probably null 1.00
R1893:D230025D16Rik UTSW 8 105246501 missense probably damaging 1.00
R1969:D230025D16Rik UTSW 8 105246500 missense possibly damaging 0.81
R2246:D230025D16Rik UTSW 8 105246500 missense possibly damaging 0.81
R3914:D230025D16Rik UTSW 8 105239983 missense probably benign 0.00
R4175:D230025D16Rik UTSW 8 105241131 missense probably benign 0.09
R4176:D230025D16Rik UTSW 8 105241131 missense probably benign 0.09
R4602:D230025D16Rik UTSW 8 105246888 missense possibly damaging 0.72
R5965:D230025D16Rik UTSW 8 105234539 missense probably damaging 1.00
R7717:D230025D16Rik UTSW 8 105251604 missense probably benign 0.12
R7787:D230025D16Rik UTSW 8 105231188 missense probably damaging 1.00
R7881:D230025D16Rik UTSW 8 105249452 missense probably benign 0.21
R8168:D230025D16Rik UTSW 8 105248769 missense probably benign 0.02
Z1088:D230025D16Rik UTSW 8 105231172 missense probably damaging 1.00
Posted On2014-05-07