Incidental Mutation 'R6578:1700034J05Rik'
ID 523861
Institutional Source Beutler Lab
Gene Symbol 1700034J05Rik
Ensembl Gene ENSMUSG00000040163
Gene Name RIKEN cDNA 1700034J05 gene
Synonyms
MMRRC Submission 044702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6578 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 146852799-146855937 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 146854812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 77 (R77*)
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 null
Transcript: ENSMUST00000036592
AA Change: R77*
SMART Domains Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: R77*

DomainStartEndE-ValueType
Pfam:DUF4640 18 301 2.7e-128 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111622
AA Change: R77*
SMART Domains Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: R77*

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: 99.9%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.4%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 A G 1: 167,183,328 (GRCm39) Y182C probably damaging Het
Alpk3 T A 7: 80,728,432 (GRCm39) S521T probably benign Het
Ankzf1 A G 1: 75,174,401 (GRCm39) R464G possibly damaging Het
Baz2b T C 2: 59,799,623 (GRCm39) E232G possibly damaging Het
Bbs2 T C 8: 94,803,669 (GRCm39) S524G probably null Het
Casp1 A G 9: 5,304,280 (GRCm39) K318R probably benign Het
Clock T A 5: 76,364,556 (GRCm39) Q853L unknown Het
Clstn3 A G 6: 124,427,663 (GRCm39) probably null Het
Ebpl A C 14: 61,597,769 (GRCm39) V24G probably benign Het
Erbb2 T C 11: 98,319,014 (GRCm39) C568R probably damaging Het
Gcm2 A G 13: 41,259,154 (GRCm39) I105T probably damaging Het
Gm7145 C T 1: 117,913,525 (GRCm39) P136S probably damaging Het
Helb G T 10: 119,947,086 (GRCm39) R76S probably damaging Het
Hipk4 T C 7: 27,227,812 (GRCm39) I186T probably damaging Het
Igdcc3 A G 9: 65,089,301 (GRCm39) D499G probably damaging Het
Krt26 T A 11: 99,225,628 (GRCm39) Q284H probably damaging Het
Lama4 T C 10: 38,893,361 (GRCm39) I156T probably benign Het
Mical2 T A 7: 111,910,652 (GRCm39) F274Y probably damaging Het
Mug1 A T 6: 121,864,411 (GRCm39) Q1436L probably benign Het
Nin A G 12: 70,107,968 (GRCm39) V208A probably damaging Het
Or4p20 T C 2: 88,253,488 (GRCm39) S294G probably benign Het
Pappa T A 4: 65,074,374 (GRCm39) N309K possibly damaging Het
Pdcd11 T C 19: 47,099,520 (GRCm39) V873A probably benign Het
Phf14 G A 6: 11,991,996 (GRCm39) C724Y probably damaging Het
Pik3r2 T G 8: 71,225,283 (GRCm39) I127L probably benign Het
Polr1a T A 6: 71,953,025 (GRCm39) M1531K possibly damaging Het
Pwwp2b T C 7: 138,836,028 (GRCm39) C490R probably damaging Het
Rax T C 18: 66,071,738 (GRCm39) T50A probably benign Het
Rbm28 A T 6: 29,137,639 (GRCm39) I438N probably damaging Het
Sema4c C T 1: 36,589,834 (GRCm39) V507I probably benign Het
Skint8 C T 4: 111,794,159 (GRCm39) T183I probably benign Het
Spata16 C T 3: 26,721,697 (GRCm39) Q73* probably null Het
Sync T C 4: 129,188,060 (GRCm39) L364P probably damaging Het
Syne1 T A 10: 5,355,454 (GRCm39) K376* probably null Het
Tanc1 C T 2: 59,626,298 (GRCm39) R552C probably damaging Het
Tdrd6 T C 17: 43,939,852 (GRCm39) I399V possibly damaging Het
Vps13b T C 15: 35,446,247 (GRCm39) C455R probably 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
R1487:1700034J05Rik UTSW 6 146,854,877 (GRCm39) missense probably benign 0.16
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
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'- ACAGTTTGCAGGGAGTCAG -3'
(R):5'- TGGACACTCTCAGCACCATG -3'

Sequencing Primer
(F):5'- ACAGTTTGCAGGGAGTCAGTTTTG -3'
(R):5'- TCCAGCAGTGACTACAGTAGC -3'
Posted On 2018-06-22