Incidental Mutation 'R0358:4921513D11Rik'
ID 29967
Institutional Source Beutler Lab
Gene Symbol 4921513D11Rik
Ensembl Gene ENSMUSG00000066944
Gene Name RIKEN cDNA 4921513D11 gene
Synonyms
MMRRC Submission 038564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R0358 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 79934106-79936110 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 79935585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040368] [ENSMUST00000224618] [ENSMUST00000225357]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040368
SMART Domains Protein: ENSMUSP00000044543
Gene: ENSMUSG00000036368

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
Blast:PAS 70 133 4e-16 BLAST
low complexity region 137 149 N/A INTRINSIC
SCOP:d1hxia_ 290 386 4e-5 SMART
Predicted Effect unknown
Transcript: ENSMUST00000086570
AA Change: A233T
SMART Domains Protein: ENSMUSP00000083761
Gene: ENSMUSG00000036368
AA Change: A233T

DomainStartEndE-ValueType
low complexity region 195 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223555
Predicted Effect probably benign
Transcript: ENSMUST00000224618
Predicted Effect probably benign
Transcript: ENSMUST00000225357
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.5%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,143,939 (GRCm39) K1651N probably benign Het
Abcb1b T C 5: 8,871,423 (GRCm39) S326P probably benign Het
Ache A G 5: 137,288,635 (GRCm39) T114A probably benign Het
Akap3 T A 6: 126,843,775 (GRCm39) V798D probably damaging Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Aqp4 T C 18: 15,531,302 (GRCm39) N153S probably benign Het
Arhgap23 G A 11: 97,354,414 (GRCm39) V265M probably damaging Het
Arhgef25 A T 10: 127,020,322 (GRCm39) M326K probably damaging Het
Atp6v1c2 T C 12: 17,334,961 (GRCm39) probably benign Het
Cars1 A T 7: 143,142,219 (GRCm39) probably benign Het
Cep83 A T 10: 94,555,593 (GRCm39) M96L probably benign Het
Cfap46 A G 7: 139,231,449 (GRCm39) probably benign Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cul7 G A 17: 46,974,670 (GRCm39) probably null Het
Dhrs2 G A 14: 55,473,574 (GRCm39) V78M probably damaging Het
Dhx38 A T 8: 110,279,094 (GRCm39) D1051E probably benign Het
Eftud2 A G 11: 102,755,627 (GRCm39) probably benign Het
Egln3 T C 12: 54,250,082 (GRCm39) E89G possibly damaging Het
Eif2ak4 A G 2: 118,294,410 (GRCm39) probably null Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fsip2 A T 2: 82,813,677 (GRCm39) N3332I possibly damaging Het
Gbp2b A T 3: 142,312,550 (GRCm39) E311V probably damaging Het
Gcnt2 G T 13: 41,014,329 (GRCm39) A167S probably damaging Het
Gm9797 A T 10: 11,485,088 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,215 (GRCm39) probably null Het
Gpr22 T C 12: 31,759,981 (GRCm39) N47S probably benign Het
Il18rap A T 1: 40,588,202 (GRCm39) H600L possibly damaging Het
Larp7 A G 3: 127,340,737 (GRCm39) probably null Het
Mep1a A G 17: 43,789,841 (GRCm39) Y490H possibly damaging Het
Mrgprh T A 17: 13,096,237 (GRCm39) V159D probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nrbp1 T A 5: 31,402,231 (GRCm39) I64N probably damaging Het
Nup214 G A 2: 31,894,312 (GRCm39) probably null Het
Or10d1b A G 9: 39,613,297 (GRCm39) I256T possibly damaging Het
Or13a21 G T 7: 139,998,856 (GRCm39) L277M probably damaging Het
Or2o1 T A 11: 49,051,071 (GRCm39) C77S probably benign Het
Or4k15b A T 14: 50,272,743 (GRCm39) L39Q probably damaging Het
Pef1 A G 4: 130,021,180 (GRCm39) T245A probably damaging Het
Phrf1 A G 7: 140,838,217 (GRCm39) probably benign Het
Ppig A G 2: 69,573,942 (GRCm39) probably benign Het
Ppp1r8 G T 4: 132,562,039 (GRCm39) F60L probably damaging Het
Psmd11 G A 11: 80,353,510 (GRCm39) probably benign Het
Ptk6 G T 2: 180,840,315 (GRCm39) H230Q probably benign Het
Ptprd T C 4: 75,863,226 (GRCm39) Y1496C probably damaging Het
Rhbdl3 G T 11: 80,244,457 (GRCm39) W388L probably damaging Het
Rnf130 T A 11: 49,962,109 (GRCm39) M185K probably benign Het
S100a13 A T 3: 90,423,299 (GRCm39) I97F probably damaging Het
Slc22a16 T G 10: 40,463,488 (GRCm39) probably null Het
Tcte1 A T 17: 45,846,211 (GRCm39) T272S probably benign Het
Terf1 T C 1: 15,876,062 (GRCm39) V54A possibly damaging Het
Tmem63a T A 1: 180,783,988 (GRCm39) N189K probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Trpv4 A G 5: 114,768,493 (GRCm39) F525S probably damaging Het
Ttll7 A G 3: 146,649,871 (GRCm39) T634A probably benign Het
Tut7 T C 13: 59,929,918 (GRCm39) D47G probably damaging Het
Ush2a T G 1: 188,269,977 (GRCm39) N1741K possibly damaging Het
Wdr87-ps A T 7: 29,231,636 (GRCm39) noncoding transcript Het
Zfp451 T A 1: 33,816,810 (GRCm39) H163L probably damaging Het
Other mutations in 4921513D11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:4921513D11Rik APN 17 79,935,328 (GRCm39) intron probably benign
IGL02131:4921513D11Rik APN 17 79,935,084 (GRCm39) intron probably benign
R0746:4921513D11Rik UTSW 17 79,935,715 (GRCm39) intron probably benign
R0781:4921513D11Rik UTSW 17 79,935,180 (GRCm39) missense probably benign 0.01
R1803:4921513D11Rik UTSW 17 79,935,095 (GRCm39) intron probably benign
R1923:4921513D11Rik UTSW 17 79,935,562 (GRCm39) intron probably benign
R4968:4921513D11Rik UTSW 17 79,935,651 (GRCm39) missense probably benign 0.10
R5156:4921513D11Rik UTSW 17 79,935,638 (GRCm39) intron probably benign
R8178:4921513D11Rik UTSW 17 79,935,699 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TTTCTTCCCGCAAGCTGAGTGTAG -3'
(R):5'- GGAGCCTGAGGTAACTTCAACAGTC -3'

Sequencing Primer
(F):5'- CTATGAAACTCCACGAGGTAGTCTG -3'
(R):5'- GAGGTAACTTCAACAGTCAAGCTAC -3'
Posted On 2013-04-24