Incidental Mutation 'R0023:D930020B18Rik'
ID64831
Institutional Source Beutler Lab
Gene Symbol D930020B18Rik
Ensembl Gene ENSMUSG00000047642
Gene NameRIKEN cDNA D930020B18 gene
Synonyms
MMRRC Submission 038318-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0023 (G1)
Quality Score85
Status Validated
Chromosome10
Chromosomal Location121641588-121693915 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121689821 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 367 (S367P)
Ref Sequence ENSEMBL: ENSMUSP00000118274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120642] [ENSMUST00000132744] [ENSMUST00000140802]
Predicted Effect probably benign
Transcript: ENSMUST00000120642
AA Change: S543P

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: S543P

DomainStartEndE-ValueType
Pfam:DUF4551 11 617 3.2e-237 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132744
AA Change: S367P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: S367P

DomainStartEndE-ValueType
Pfam:DUF4551 1 148 3.6e-66 PFAM
Pfam:DUF4551 142 443 6.1e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140802
SMART Domains Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642

DomainStartEndE-ValueType
Pfam:DUF4551 1 151 8.7e-68 PFAM
Meta Mutation Damage Score 0.1504 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A C 4: 144,528,997 D329A probably damaging Het
Abcc12 T A 8: 86,538,333 H661L probably damaging Het
Abcg4 A G 9: 44,275,375 Y491H probably damaging Het
Acsbg2 C G 17: 56,847,710 A481P probably damaging Het
Aknad1 T A 3: 108,781,185 C610S probably benign Het
Ang4 G T 14: 51,764,403 Y29* probably null Het
Aqp11 A T 7: 97,726,689 I251N possibly damaging Het
Arid1a G T 4: 133,691,176 T1032K unknown Het
Atg16l1 T C 1: 87,789,465 V538A probably benign Het
Bbs1 C T 19: 4,906,014 A44T probably damaging Het
Bpifa3 A C 2: 154,138,150 H234P probably damaging Het
Btbd9 A T 17: 30,530,214 V42E probably damaging Het
Carmil3 C G 14: 55,492,876 S15R probably damaging Het
Casp8ap2 A G 4: 32,640,185 D413G probably damaging Het
Cfap44 T A 16: 44,421,220 F651L probably benign Het
Clcn3 A T 8: 60,933,070 probably benign Het
Crip3 A G 17: 46,430,994 K136E probably damaging Het
Ctr9 G A 7: 111,043,947 A509T possibly damaging Het
Dhrs11 A T 11: 84,823,150 L125H probably damaging Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Efcab7 A T 4: 99,901,637 probably benign Het
Eif2ak4 A C 2: 118,462,721 S1253R probably damaging Het
Emc1 A G 4: 139,371,009 D767G probably damaging Het
Fads1 G A 19: 10,186,897 probably benign Het
Fbxw26 T C 9: 109,718,011 T449A probably benign Het
Frrs1 T C 3: 116,896,788 F27L probably damaging Het
Fry T C 5: 150,451,098 S2358P possibly damaging Het
Gas6 A C 8: 13,470,344 L448R probably damaging Het
Hikeshi T C 7: 89,920,204 probably benign Het
Ifngr1 C T 10: 19,609,449 R399* probably null Het
Itga2 G A 13: 114,870,496 S432L possibly damaging Het
Knl1 C T 2: 119,102,549 T2063I possibly damaging Het
Lyzl6 A G 11: 103,636,871 V9A probably benign Het
Macf1 A T 4: 123,488,314 probably benign Het
Myo6 T C 9: 80,283,534 V789A possibly damaging Het
Myo9b A T 8: 71,333,768 R693W probably damaging Het
Nasp A G 4: 116,605,771 probably benign Het
Nr1i3 T C 1: 171,217,331 F247L probably damaging Het
Plekhs1 T G 19: 56,478,516 S260A probably damaging Het
Rpl21-ps6 T C 17: 55,915,536 noncoding transcript Het
Rtcb A T 10: 85,949,451 probably benign Het
Sppl2a T A 2: 126,913,293 probably null Het
Suco A T 1: 161,845,585 probably null Het
Tnn T A 1: 160,104,928 T1075S probably benign Het
Traf3 T A 12: 111,243,478 C169* probably null Het
Ucp3 G T 7: 100,485,043 V288L probably benign Het
Ulk3 C A 9: 57,590,356 C4* probably null Het
Vmn1r73 A T 7: 11,757,070 T272S probably benign Het
Vmn2r115 G A 17: 23,346,278 E380K probably benign Het
Vmn2r3 T A 3: 64,275,366 N304I probably damaging Het
Xylt1 G T 7: 117,634,701 G485V probably damaging Het
Yars A G 4: 129,197,188 T130A probably benign Het
Zfp652 A T 11: 95,753,469 R205* probably null Het
Other mutations in D930020B18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:D930020B18Rik APN 10 121685584 missense probably damaging 1.00
IGL01669:D930020B18Rik APN 10 121683961 missense probably benign 0.03
IGL01793:D930020B18Rik APN 10 121671831 missense probably damaging 1.00
IGL01907:D930020B18Rik APN 10 121642010 missense probably damaging 0.97
IGL01981:D930020B18Rik APN 10 121692414 missense probably damaging 0.98
IGL02545:D930020B18Rik APN 10 121689933 missense possibly damaging 0.87
IGL03024:D930020B18Rik APN 10 121685622 splice site probably benign
R0022:D930020B18Rik UTSW 10 121671770 missense probably damaging 0.97
R1872:D930020B18Rik UTSW 10 121641974 missense probably damaging 1.00
R2340:D930020B18Rik UTSW 10 121654836 missense probably damaging 1.00
R4074:D930020B18Rik UTSW 10 121656218 intron probably benign
R4990:D930020B18Rik UTSW 10 121654761 missense probably damaging 1.00
R4990:D930020B18Rik UTSW 10 121654762 missense probably damaging 1.00
R4992:D930020B18Rik UTSW 10 121654761 missense probably damaging 1.00
R4992:D930020B18Rik UTSW 10 121654762 missense probably damaging 1.00
R5096:D930020B18Rik UTSW 10 121667804 missense probably benign 0.19
R5677:D930020B18Rik UTSW 10 121669201 missense probably benign 0.00
R6401:D930020B18Rik UTSW 10 121641857 missense possibly damaging 0.95
R6481:D930020B18Rik UTSW 10 121661148 critical splice donor site probably null
R7070:D930020B18Rik UTSW 10 121641974 missense probably damaging 1.00
R7250:D930020B18Rik UTSW 10 121671831 missense probably damaging 1.00
R7365:D930020B18Rik UTSW 10 121667811 splice site probably null
R7408:D930020B18Rik UTSW 10 121689834 missense probably damaging 1.00
R7446:D930020B18Rik UTSW 10 121667745 missense possibly damaging 0.94
R7559:D930020B18Rik UTSW 10 121656226 intron probably benign
R8215:D930020B18Rik UTSW 10 121667524 nonsense probably null
X0021:D930020B18Rik UTSW 10 121641885 missense probably null 1.00
Z1176:D930020B18Rik UTSW 10 121667616 missense probably benign 0.01
Z1177:D930020B18Rik UTSW 10 121689912 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCGGCATTGAGTAGCATTTCAGAG -3'
(R):5'- ACCCAAGCATCGTCCTGTCCTAAG -3'

Sequencing Primer
(F):5'- GCATTTCAGAGAGAAATAGCTCAC -3'
(R):5'- ggtatggggggaggagg -3'
Posted On2013-08-06