Incidental Mutation 'IGL02375:1700034J05Rik'
ID291054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700034J05Rik
Ensembl Gene ENSMUSG00000040163
Gene NameRIKEN cDNA 1700034J05 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02375
Quality Score
Status
Chromosome6
Chromosomal Location146950329-146954422 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 146953315 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 76 (K76N)
Ref Sequence ENSEMBL: ENSMUSP00000107249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000036592] [ENSMUST00000111622] [ENSMUST00000111623] [ENSMUST00000203730]
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 possibly damaging
Transcript: ENSMUST00000036592
AA Change: K76N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: K76N

DomainStartEndE-ValueType
Pfam:DUF4640 18 301 2.7e-128 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111622
AA Change: K76N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: K76N

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F07Rik A G 2: 173,522,703 M14V probably benign Het
Agxt A G 1: 93,135,703 E109G probably damaging Het
Alcam T C 16: 52,288,936 T325A probably benign Het
Apol7c T C 15: 77,528,849 E67G probably damaging Het
Bco1 C A 8: 117,113,439 S232Y probably benign Het
Cacna1c A T 6: 118,675,923 V763D probably damaging Het
Ccdc15 T C 9: 37,304,332 D618G probably damaging Het
Col6a5 T C 9: 105,906,113 N1603S unknown Het
Cyp4v3 A G 8: 45,308,374 probably null Het
Eml5 A T 12: 98,844,087 V870E probably damaging Het
Epn2 A G 11: 61,519,671 V512A probably damaging Het
Fam71b G T 11: 46,406,552 V228L probably damaging Het
Farp2 A G 1: 93,576,463 R321G probably damaging Het
Gprasp1 T C X: 135,800,803 S582P probably damaging Het
Grhl2 T C 15: 37,291,577 V303A probably damaging Het
Grik1 A T 16: 87,946,556 F594L probably damaging Het
Hivep1 A G 13: 42,156,449 K722E probably benign Het
Htr5b G A 1: 121,527,835 R119C probably damaging Het
Ifit2 T C 19: 34,574,337 S426P probably benign Het
Kif13a T C 13: 46,825,222 Y234C probably damaging Het
Mios T A 6: 8,222,598 F511I probably benign Het
Mtfmt T C 9: 65,439,567 W148R probably damaging Het
Myo1c C A 11: 75,661,574 T391N probably benign Het
Nlrp1a A T 11: 71,113,513 L710* probably null Het
Nlrp1b A G 11: 71,161,680 I971T probably damaging Het
Nup43 A G 10: 7,673,594 D171G probably damaging Het
Olfr1445 A G 19: 12,883,941 E20G probably benign Het
P2rx7 T C 5: 122,673,656 probably benign Het
Poli C T 18: 70,523,292 G155R probably damaging Het
Rad9b T C 5: 122,333,342 S220G possibly damaging Het
Rgn C T X: 20,550,461 S28L probably damaging Het
Tcp11l2 G A 10: 84,605,068 probably null Het
Tenm4 G A 7: 96,704,137 V379I possibly damaging Het
Thsd7a A T 6: 12,343,265 C1118S probably damaging Het
Tmem8 T A 17: 26,119,499 Y512N probably benign Het
Trpm7 A G 2: 126,825,744 Y776H probably damaging Het
Trpv4 T C 5: 114,636,357 N222S probably benign Het
Tut1 C T 19: 8,964,039 R397C probably damaging Het
Vmn1r72 T A 7: 11,669,745 T259S probably benign Het
Wdr17 A G 8: 54,696,388 S2P possibly damaging Het
Other mutations in 1700034J05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:1700034J05Rik APN 6 146953340 missense probably damaging 1.00
IGL01725:1700034J05Rik APN 6 146952269 missense probably damaging 0.97
IGL01860:1700034J05Rik APN 6 146952416 missense possibly damaging 0.77
IGL01991:1700034J05Rik APN 6 146953110 missense probably benign 0.32
R0254:1700034J05Rik UTSW 6 146952404 missense probably benign 0.00
R0361:1700034J05Rik UTSW 6 146952371 missense possibly damaging 0.94
R0835:1700034J05Rik UTSW 6 146953538 intron probably benign
R1101:1700034J05Rik UTSW 6 146952411 missense possibly damaging 0.95
R1428:1700034J05Rik UTSW 6 146952411 missense possibly damaging 0.95
R1487:1700034J05Rik UTSW 6 146953379 missense probably benign 0.16
R1887:1700034J05Rik UTSW 6 146952411 missense possibly damaging 0.95
R1988:1700034J05Rik UTSW 6 146952896 missense possibly damaging 0.70
R1989:1700034J05Rik UTSW 6 146952896 missense possibly damaging 0.70
R4063:1700034J05Rik UTSW 6 146953108 missense probably benign 0.32
R6122:1700034J05Rik UTSW 6 146952252 makesense probably null
R6578:1700034J05Rik UTSW 6 146953314 nonsense probably null
R7029:1700034J05Rik UTSW 6 146952343 missense probably benign 0.00
R7585:1700034J05Rik UTSW 6 146953353 missense probably benign 0.00
R7842:1700034J05Rik UTSW 6 146953536 missense unknown
X0066:1700034J05Rik UTSW 6 146953540 start codon destroyed probably null
Posted On2015-04-16