Incidental Mutation 'R1487:1700034J05Rik'
ID 163520
Institutional Source Beutler Lab
Gene Symbol 1700034J05Rik
Ensembl Gene ENSMUSG00000040163
Gene Name RIKEN cDNA 1700034J05 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1487 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 146852799-146855937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 146854877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 55 (V55G)
Ref Sequence ENSEMBL: ENSMUSP00000107249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000036592] [ENSMUST00000111622] [ENSMUST00000111623] [ENSMUST00000203730]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000016631
SMART Domains Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
PDB:3QH9|A 180 256 3e-8 PDB
low complexity region 345 358 N/A INTRINSIC
low complexity region 426 441 N/A INTRINSIC
low complexity region 530 546 N/A INTRINSIC
SAM 603 670 3.06e-13 SMART
SAM 675 741 2.39e-15 SMART
SAM 763 835 7.91e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036592
AA Change: V55G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: V55G

DomainStartEndE-ValueType
Pfam:DUF4640 18 301 2.7e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111622
AA Change: V55G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: V55G

DomainStartEndE-ValueType
Pfam:DUF4640 18 300 1.3e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111623
SMART Domains Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
PDB:3QH9|A 180 256 3e-8 PDB
low complexity region 272 284 N/A INTRINSIC
low complexity region 356 369 N/A INTRINSIC
low complexity region 437 452 N/A INTRINSIC
low complexity region 541 557 N/A INTRINSIC
SAM 614 681 3.06e-13 SMART
SAM 686 752 2.39e-15 SMART
SAM 774 846 7.91e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203730
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 A G 8: 10,037,402 (GRCm39) probably benign Het
Arid5b T A 10: 67,933,044 (GRCm39) K953* probably null Het
Armh3 A C 19: 45,928,882 (GRCm39) probably null Het
B4galt6 A G 18: 20,839,571 (GRCm39) V121A possibly damaging Het
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Calu A G 6: 29,366,955 (GRCm39) I208V probably benign Het
Cd14 T C 18: 36,858,537 (GRCm39) N306S probably benign Het
Cdc16 T A 8: 13,821,445 (GRCm39) N415K probably benign Het
Cfap57 C A 4: 118,471,978 (GRCm39) V134F probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Chtf18 T C 17: 25,939,583 (GRCm39) K67R probably benign Het
Clock T C 5: 76,414,201 (GRCm39) probably null Het
Cplane1 C T 15: 8,215,715 (GRCm39) R424W probably damaging Het
Eif4g1 G A 16: 20,497,623 (GRCm39) probably benign Het
Eps8l2 A T 7: 140,941,531 (GRCm39) M601L probably benign Het
Fat4 A G 3: 39,050,066 (GRCm39) E3976G possibly damaging Het
Flrt3 T A 2: 140,502,854 (GRCm39) H258L probably damaging Het
Flt4 C A 11: 49,523,971 (GRCm39) T517K possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gipc1 C T 8: 84,387,808 (GRCm39) Q63* probably null Het
Gm17079 A T 14: 51,930,542 (GRCm39) probably null Het
Gucy2c T A 6: 136,725,824 (GRCm39) I375F possibly damaging Het
Hps4 C T 5: 112,525,865 (GRCm39) Q629* probably null Het
Hunk A G 16: 90,183,525 (GRCm39) Y61C probably damaging Het
Itga6 T C 2: 71,673,584 (GRCm39) S873P possibly damaging Het
Kcnc1 A G 7: 46,047,298 (GRCm39) H66R possibly damaging Het
Kcnc1 T C 7: 46,084,772 (GRCm39) probably null Het
Khdc3 A G 9: 73,009,846 (GRCm39) T19A probably benign Het
Kmt2a T C 9: 44,745,287 (GRCm39) probably benign Het
Lipe C T 7: 25,084,240 (GRCm39) A615T possibly damaging Het
Lrguk A T 6: 34,039,295 (GRCm39) M269L probably benign Het
Lrrc18 A G 14: 32,730,640 (GRCm39) N60D probably damaging Het
Magi1 T C 6: 93,685,060 (GRCm39) T773A probably benign Het
Map3k14 T A 11: 103,116,163 (GRCm39) D755V possibly damaging Het
Mecom T C 3: 30,034,213 (GRCm39) T488A probably damaging Het
Mmp10 T G 9: 7,509,978 (GRCm39) W473G probably damaging Het
Mrgpra2a C T 7: 47,076,434 (GRCm39) V275I probably benign Het
Myo7a A C 7: 97,703,017 (GRCm39) probably null Het
Nadsyn1 C T 7: 143,360,662 (GRCm39) V369I probably benign Het
Nptxr C A 15: 79,674,104 (GRCm39) G424V probably damaging Het
Nrg2 C T 18: 36,185,965 (GRCm39) G258E possibly damaging Het
Nup210 G A 6: 91,019,558 (GRCm39) P221S probably damaging Het
Odad2 A T 18: 7,273,245 (GRCm39) Y282N probably damaging Het
Or52a33 T A 7: 103,288,801 (GRCm39) H182L probably damaging Het
Or6c208 T C 10: 129,224,209 (GRCm39) F236L probably benign Het
Oxct1 A G 15: 4,177,057 (GRCm39) D477G possibly damaging Het
Pcdh8 G T 14: 80,006,987 (GRCm39) D525E probably damaging Het
Phldb2 A G 16: 45,609,387 (GRCm39) S740P probably damaging Het
Prss54 A G 8: 96,286,276 (GRCm39) S266P probably benign Het
Ptprh T A 7: 4,555,737 (GRCm39) I741F probably damaging Het
Rab11fip1 G T 8: 27,644,240 (GRCm39) S515Y probably damaging Het
Recql4 T A 15: 76,593,183 (GRCm39) N309I probably benign Het
Sec24a T C 11: 51,622,713 (GRCm39) T388A possibly damaging Het
Setd6 T A 8: 96,444,556 (GRCm39) L83H probably damaging Het
Slc6a12 G A 6: 121,340,716 (GRCm39) W534* probably null Het
St14 C T 9: 31,008,476 (GRCm39) C488Y probably damaging Het
Supt16 A G 14: 52,414,065 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,460 (GRCm39) Y1968C probably damaging Het
Tcaim T A 9: 122,647,897 (GRCm39) Y137* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpm3 A T 3: 89,997,389 (GRCm39) probably null Het
Trip12 A T 1: 84,746,352 (GRCm39) N475K probably damaging Het
Twnk G T 19: 44,996,815 (GRCm39) probably null Het
Zfp287 T C 11: 62,616,115 (GRCm39) K192R probably damaging Het
Zfp799 G T 17: 33,039,651 (GRCm39) T204N possibly damaging Het
Other mutations in 1700034J05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:1700034J05Rik APN 6 146,854,838 (GRCm39) missense probably damaging 1.00
IGL01725:1700034J05Rik APN 6 146,853,767 (GRCm39) missense probably damaging 0.97
IGL01860:1700034J05Rik APN 6 146,853,914 (GRCm39) missense possibly damaging 0.77
IGL01991:1700034J05Rik APN 6 146,854,608 (GRCm39) missense probably benign 0.32
IGL02375:1700034J05Rik APN 6 146,854,813 (GRCm39) missense possibly damaging 0.92
R0254:1700034J05Rik UTSW 6 146,853,902 (GRCm39) missense probably benign 0.00
R0361:1700034J05Rik UTSW 6 146,853,869 (GRCm39) missense possibly damaging 0.94
R0835:1700034J05Rik UTSW 6 146,855,036 (GRCm39) intron probably benign
R1101:1700034J05Rik UTSW 6 146,853,909 (GRCm39) missense possibly damaging 0.95
R1428:1700034J05Rik UTSW 6 146,853,909 (GRCm39) missense possibly damaging 0.95
R1887:1700034J05Rik UTSW 6 146,853,909 (GRCm39) missense possibly damaging 0.95
R1988:1700034J05Rik UTSW 6 146,854,394 (GRCm39) missense possibly damaging 0.70
R1989:1700034J05Rik UTSW 6 146,854,394 (GRCm39) missense possibly damaging 0.70
R4063:1700034J05Rik UTSW 6 146,854,606 (GRCm39) missense probably benign 0.32
R6122:1700034J05Rik UTSW 6 146,853,750 (GRCm39) makesense probably null
R6578:1700034J05Rik UTSW 6 146,854,812 (GRCm39) nonsense probably null
R7029:1700034J05Rik UTSW 6 146,853,841 (GRCm39) missense probably benign 0.00
R7585:1700034J05Rik UTSW 6 146,854,851 (GRCm39) missense probably benign 0.00
R7842:1700034J05Rik UTSW 6 146,855,034 (GRCm39) missense unknown
R9272:1700034J05Rik UTSW 6 146,854,499 (GRCm39) missense probably damaging 1.00
R9444:1700034J05Rik UTSW 6 146,854,724 (GRCm39) missense probably damaging 1.00
X0066:1700034J05Rik UTSW 6 146,855,038 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- AGTAGATTCAGGGAGCACACAGCC -3'
(R):5'- CCAGCAGTGACTACAGTAGCACAG -3'

Sequencing Primer
(F):5'- ATCCACTGGCTATGGGCATTTAG -3'
(R):5'- GAATGCAAGTCCAACCAGAG -3'
Posted On 2014-03-28