Incidental Mutation 'R0746:4921513D11Rik'
ID 70159
Institutional Source Beutler Lab
Gene Symbol 4921513D11Rik
Ensembl Gene ENSMUSG00000066944
Gene Name RIKEN cDNA 4921513D11 gene
Synonyms
MMRRC Submission 038927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R0746 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 79934106-79936110 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 79935715 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: V276A
SMART Domains Protein: ENSMUSP00000083761
Gene: ENSMUSG00000036368
AA Change: V276A

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T C 2: 58,390,562 (GRCm39) M1V probably null Het
Adamts10 T A 17: 33,768,521 (GRCm39) C866* probably null Het
Adgrv1 G A 13: 81,718,675 (GRCm39) P4S probably benign Het
Arhgef37 A G 18: 61,651,064 (GRCm39) probably null Het
Arid4b A G 13: 14,317,623 (GRCm39) T169A probably benign Het
Bltp3b T A 10: 89,641,316 (GRCm39) I829K probably benign Het
Cabp7 A T 11: 4,688,900 (GRCm39) I190N probably damaging Het
Capn13 A C 17: 73,658,503 (GRCm39) D188E probably benign Het
Ces1d A G 8: 93,916,096 (GRCm39) F177S probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csmd2 T A 4: 128,308,090 (GRCm39) C1283S probably damaging Het
Cul1 T C 6: 47,495,222 (GRCm39) probably null Het
F7 T G 8: 13,084,740 (GRCm39) S255R probably benign Het
Fanci T A 7: 79,089,429 (GRCm39) I955N probably damaging Het
Focad C A 4: 88,315,451 (GRCm39) D1536E possibly damaging Het
Fus A G 7: 127,584,596 (GRCm39) probably benign Het
Gpr146 C T 5: 139,378,977 (GRCm39) R260W probably damaging Het
Grid1 T C 14: 34,544,647 (GRCm39) F73L possibly damaging Het
Ilf2 T A 3: 90,390,114 (GRCm39) V142D probably damaging Het
Kcna2 A G 3: 107,012,484 (GRCm39) D355G probably benign Het
Mgat4c T C 10: 102,224,548 (GRCm39) F254S probably damaging Het
Mrps10 A C 17: 47,683,564 (GRCm39) R139S probably benign Het
Myh2 A G 11: 67,064,257 (GRCm39) T71A probably benign Het
Myo1d A C 11: 80,477,705 (GRCm39) Y893D possibly damaging Het
Ncapd2 T C 6: 125,151,227 (GRCm39) E760G possibly damaging Het
Or10ab5 A T 7: 108,245,248 (GRCm39) D178E probably damaging Het
Or11h6 T A 14: 50,880,232 (GRCm39) probably null Het
Pkhd1 T A 1: 20,268,331 (GRCm39) D3349V probably damaging Het
Ptprn2 A C 12: 116,864,637 (GRCm39) M551L probably benign Het
Ptprq A G 10: 107,353,692 (GRCm39) Y2275H probably damaging Het
Rfx7 A G 9: 72,526,388 (GRCm39) T1193A probably benign Het
Rtl1 T C 12: 109,559,394 (GRCm39) D815G probably damaging Het
Scn1a T A 2: 66,181,470 (GRCm39) T18S probably benign Het
Septin5 T C 16: 18,441,975 (GRCm39) H277R probably damaging Het
Sh3bp5l A G 11: 58,237,173 (GRCm39) S377G probably benign Het
Snx2 T A 18: 53,330,961 (GRCm39) I142K possibly damaging Het
Spata31d1a C A 13: 59,850,077 (GRCm39) D684Y possibly damaging Het
Taar6 C A 10: 23,861,258 (GRCm39) S96I probably benign Het
Thsd7b C A 1: 130,116,268 (GRCm39) H1340Q probably benign Het
Tmem115 C T 9: 107,415,198 (GRCm39) T329M probably benign Het
Tmem50b C T 16: 91,378,578 (GRCm39) probably null Het
Wdr64 A T 1: 175,620,539 (GRCm39) D316V possibly damaging Het
Yars1 C A 4: 129,091,079 (GRCm39) S162R 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
R0358:4921513D11Rik UTSW 17 79,935,585 (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'- GGCCAGCTAAATAAGGTTTCGGAGG -3'
(R):5'- GCAAAGGAGGCACTGTACTCTAAGG -3'

Sequencing Primer
(F):5'- GAGGATGCCCTTCATCACAG -3'
(R):5'- CACTGTACTCTAAGGATGCATGAC -3'
Posted On 2013-09-30