Incidental Mutation 'R4063:1700034J05Rik'
ID 315960
Institutional Source Beutler Lab
Gene Symbol 1700034J05Rik
Ensembl Gene ENSMUSG00000040163
Gene Name RIKEN cDNA 1700034J05 gene
Synonyms
MMRRC Submission 041619-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4063 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 146852799-146855937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 146854606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 145 (F145L)
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: F145L

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: F145L

DomainStartEndE-ValueType
Pfam:DUF4640 18 301 2.7e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111622
AA Change: F145L

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: F145L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,551,645 (GRCm39) D1221G possibly damaging Het
Adamtsl4 T C 3: 95,584,864 (GRCm39) K935E probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Arhgef28 T C 13: 98,130,575 (GRCm39) D421G probably benign Het
Armh4 T A 14: 50,011,444 (GRCm39) M88L probably benign Het
Atl2 T C 17: 80,157,588 (GRCm39) *413W probably null Het
B4galt7 C A 13: 55,756,152 (GRCm39) probably null Het
Bltp3b A G 10: 89,651,917 (GRCm39) N247S probably benign Het
C8g A T 2: 25,389,425 (GRCm39) S147T probably damaging Het
Clstn3 A T 6: 124,426,792 (GRCm39) Y510N possibly damaging Het
Cnot2 A G 10: 116,373,301 (GRCm39) V34A possibly damaging Het
Cyb5d2 A T 11: 72,686,606 (GRCm39) probably benign Het
Dnah5 T C 15: 28,421,144 (GRCm39) I3827T probably damaging Het
Dnah7a G T 1: 53,464,376 (GRCm39) Q3672K probably benign Het
Dock1 A T 7: 134,717,021 (GRCm39) Y1219F possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Gm10719 G T 9: 3,019,043 (GRCm39) W96L probably damaging Het
H2-M2 G A 17: 37,792,399 (GRCm39) H291Y probably damaging Het
Hmgcl T C 4: 135,686,035 (GRCm39) Y167H probably damaging Het
Il22ra2 A T 10: 19,502,400 (GRCm39) D73V possibly damaging Het
Incenp A T 19: 9,861,142 (GRCm39) M480K unknown Het
Irag1 G T 7: 110,522,984 (GRCm39) A359D probably benign Het
Kdm6a A G X: 18,117,114 (GRCm39) T266A probably benign Het
Lipf A G 19: 33,942,965 (GRCm39) N91S probably benign Het
M1ap A T 6: 82,980,756 (GRCm39) N214I probably damaging Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mdga1 A G 17: 30,057,005 (GRCm39) C826R probably damaging Het
Msx1 C A 5: 37,981,365 (GRCm39) A105S probably benign Het
Or5ac23 A C 16: 59,149,243 (GRCm39) S210A probably benign Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Ppp1r13l A T 7: 19,103,978 (GRCm39) H153L probably benign Het
Pramel21 A G 4: 143,342,559 (GRCm39) D222G possibly damaging Het
Pramel29 T C 4: 143,935,265 (GRCm39) K161E possibly damaging Het
Proz A G 8: 13,114,621 (GRCm39) Y85C probably damaging Het
Prss50 A G 9: 110,687,480 (GRCm39) D141G probably benign Het
Rad54l2 T A 9: 106,597,613 (GRCm39) Q131L probably benign Het
Sdha A G 13: 74,472,077 (GRCm39) probably benign Het
Sema3d T A 5: 12,635,091 (GRCm39) I719N probably benign Het
Slc18b1 A T 10: 23,681,879 (GRCm39) I148L probably benign Het
Tacc2 G T 7: 130,330,852 (GRCm39) D2086Y probably damaging Het
Tchh T C 3: 93,354,298 (GRCm39) L1246P unknown Het
Tmprss11d T C 5: 86,457,177 (GRCm39) I161V probably benign Het
Trpc3 T C 3: 36,725,172 (GRCm39) D268G probably damaging Het
Trpm8 G A 1: 88,289,727 (GRCm39) R895H probably damaging Het
Txndc2 A G 17: 65,945,079 (GRCm39) I366T possibly damaging Het
Ugt2a3 T C 5: 87,484,725 (GRCm39) I100V probably benign Het
Upp1 C A 11: 9,081,709 (GRCm39) P82Q probably damaging Het
Vim A G 2: 13,584,827 (GRCm39) probably null Het
Vmn2r12 A T 5: 109,240,058 (GRCm39) N168K possibly damaging Het
Zdhhc14 G T 17: 5,802,983 (GRCm39) C362F probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zswim5 G A 4: 116,735,177 (GRCm39) G174D unknown 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
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'- TCAGTAACCTTGGAGGATCCTC -3'
(R):5'- AGCATGACCCAGAGCAGTTC -3'

Sequencing Primer
(F):5'- GTAACCTTGGAGGATCCTCTAGCAC -3'
(R):5'- GCAGTTCAGCAAGCTAAGC -3'
Posted On 2015-05-15