Incidental Mutation 'R6218:9930111J21Rik2'
ID 503852
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik2
Ensembl Gene ENSMUSG00000069892
Gene Name RIKEN cDNA 9930111J21 gene 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R6218 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49015874-49051242 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49019307 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 766 (N766K)
Ref Sequence ENSEMBL: ENSMUSP00000098853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000101295] [ENSMUST00000179282]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056759
SMART Domains Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 1.5e-33 PFAM
Pfam:7tm_4 108 252 1.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101295
AA Change: N766K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: N766K

DomainStartEndE-ValueType
Pfam:IIGP 36 398 2e-125 PFAM
Pfam:DLIC 52 107 3.2e-5 PFAM
Pfam:MMR_HSR1 72 235 2e-11 PFAM
low complexity region 430 444 N/A INTRINSIC
Pfam:IIGP 447 820 2.3e-151 PFAM
Pfam:MMR_HSR1 483 607 5.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179282
SMART Domains Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7tm_4 1 276 3.6e-51 PFAM
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 3.8e-26 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,837,904 Q38K probably benign Het
Adam15 A C 3: 89,343,883 I505S probably benign Het
Apc2 T C 10: 80,306,420 M391T probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Bclaf1 A G 10: 20,334,628 S840G probably benign Het
Cacna2d4 A G 6: 119,239,060 Y96C probably damaging Het
Cald1 CAAAA CAAA 6: 34,747,928 probably null Het
Ddhd1 A G 14: 45,614,176 L141P probably damaging Het
Dnaaf3 A T 7: 4,523,672 S469T probably benign Het
Dzip3 A T 16: 48,958,465 M323K possibly damaging Het
E430018J23Rik C T 7: 127,393,409 A10T possibly damaging Het
Eci2 T A 13: 34,993,065 probably null Het
Fam109b T A 15: 82,343,716 H145Q probably benign Het
Fam227b A T 2: 126,126,962 V64E probably damaging Het
Galnt2 A G 8: 124,343,315 I524V probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm14548 A T 7: 3,894,032 S602T possibly damaging Het
Gm3443 T A 19: 21,555,746 S25T probably damaging Het
Gpr22 T A 12: 31,711,617 K14* probably null Het
Grip1 T C 10: 119,986,346 S405P possibly damaging Het
Helz2 C A 2: 181,232,294 V2136L probably benign Het
Helz2 T C 2: 181,235,945 H1020R probably damaging Het
Il1f5 G A 2: 24,277,490 probably benign Het
Iqsec1 T A 6: 90,689,635 S607C probably damaging Het
Klhl2 A T 8: 64,752,767 Y373* probably null Het
L3mbtl3 T C 10: 26,292,747 I595V unknown Het
Large2 T C 2: 92,370,636 D65G probably damaging Het
Lrrfip1 T C 1: 91,082,159 Y122H probably damaging Het
Map1b A T 13: 99,433,206 D1002E unknown Het
Mink1 C T 11: 70,598,894 T59I possibly damaging Het
Mrvi1 G A 7: 110,876,905 T819M probably benign Het
Myo7b T C 18: 31,959,454 N2097D probably benign Het
Nbea C A 3: 55,628,484 C2893F probably damaging Het
Nlgn1 A T 3: 25,436,093 V490E probably damaging Het
Olfr1230 G T 2: 89,296,962 H103N probably damaging Het
Olfr131 A G 17: 38,082,729 M83T probably damaging Het
Olfr1318 T C 2: 112,156,356 I135T probably damaging Het
Olfr1369-ps1 G A 13: 21,116,231 E180K probably damaging Het
Olfr730 C A 14: 50,186,678 D180Y probably damaging Het
Pctp A G 11: 89,987,318 I130T probably benign Het
Pdcl3 T C 1: 38,988,071 probably null Het
Pkp1 T C 1: 135,879,908 K541E probably damaging Het
Plekhh2 G A 17: 84,591,564 V990I probably benign Het
Ppp1r3a A T 6: 14,718,431 V828D probably damaging Het
Prrc2b T C 2: 32,208,811 Y712H probably damaging Het
Prune2 T C 19: 17,121,562 S1477P probably benign Het
Psma5 A G 3: 108,279,802 K239R probably benign Het
Rhobtb1 G C 10: 69,270,456 A284P probably benign Het
Samsn1 G A 16: 75,945,274 noncoding transcript Het
Scel A G 14: 103,572,042 T273A probably benign Het
Slc22a5 T A 11: 53,891,618 probably benign Het
Slc25a37 A T 14: 69,249,504 M110K possibly damaging Het
Slc6a2 A T 8: 92,981,981 M242L probably benign Het
Slc8a3 C A 12: 81,199,567 W904L probably benign Het
Ss18l1 G A 2: 180,055,112 V109I probably benign Het
Tbx5 C T 5: 119,853,598 H245Y probably damaging Het
Thumpd2 C A 17: 81,052,913 L244F probably damaging Het
Tmem107 T A 11: 69,071,415 V66E probably damaging Het
Tnr T C 1: 159,888,314 V882A possibly damaging Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Ttbk1 A G 17: 46,470,807 V340A possibly damaging Het
Veph1 T C 3: 66,255,060 E59G probably damaging Het
Vmn1r234 T A 17: 21,229,721 M299K possibly damaging Het
Vps13b T C 15: 35,770,464 Y2018H probably benign Het
Zbtb11 A G 16: 55,998,073 E620G probably benign Het
Zfp418 A G 7: 7,182,628 H530R possibly damaging Het
Other mutations in 9930111J21Rik2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1986:9930111J21Rik2 UTSW 11 49019292 missense possibly damaging 0.83
R2023:9930111J21Rik2 UTSW 11 49020317 missense probably benign 0.01
R2202:9930111J21Rik2 UTSW 11 49019322 missense probably damaging 1.00
R2205:9930111J21Rik2 UTSW 11 49019322 missense probably damaging 1.00
R2337:9930111J21Rik2 UTSW 11 49020304 missense probably benign 0.01
R3709:9930111J21Rik2 UTSW 11 49019653 missense probably damaging 1.00
R3716:9930111J21Rik2 UTSW 11 49019536 missense probably damaging 0.96
R3738:9930111J21Rik2 UTSW 11 49019281 nonsense probably null
R3739:9930111J21Rik2 UTSW 11 49019281 nonsense probably null
R4034:9930111J21Rik2 UTSW 11 49019281 nonsense probably null
R5413:9930111J21Rik2 UTSW 11 49020377 missense possibly damaging 0.91
R5595:9930111J21Rik2 UTSW 11 49019711 missense possibly damaging 0.95
R5611:9930111J21Rik2 UTSW 11 49020001 missense possibly damaging 0.91
R5651:9930111J21Rik2 UTSW 11 49019873 missense probably damaging 0.99
R5715:9930111J21Rik2 UTSW 11 49019950 missense probably damaging 1.00
R6169:9930111J21Rik2 UTSW 11 49019261 splice site probably null
R6536:9930111J21Rik2 UTSW 11 49019723 missense probably benign 0.03
R7186:9930111J21Rik2 UTSW 11 49019273 missense possibly damaging 0.96
R7891:9930111J21Rik2 UTSW 11 49019716 missense probably benign 0.11
R8056:9930111J21Rik2 UTSW 11 49020082 missense probably benign 0.40
R8419:9930111J21Rik2 UTSW 11 49019485 missense probably damaging 1.00
R8726:9930111J21Rik2 UTSW 11 49019680 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATGATCCTGGCTTCTCTG -3'
(R):5'- AGGGATTTCCTCAGACAGAAGATC -3'

Sequencing Primer
(F):5'- TGATCCTGGCTTCTCTGACAAAAAC -3'
(R):5'- ACCATTCCACTTGGGGGCTTAG -3'
Posted On 2018-02-27