Incidental Mutation 'R4191:1700001C19Rik'
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ID318334
Institutional Source Beutler Lab
Gene Symbol 1700001C19Rik
Ensembl Gene ENSMUSG00000047150
Gene NameRIKEN cDNA 1700001C19 gene
Synonyms
MMRRC Submission 041022-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.022) question?
Stock #R4191 (G1)
Quality Score167
Status Validated
Chromosome17
Chromosomal Location47412734-47437376 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 47436637 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 61 (R61H)
Ref Sequence ENSEMBL: ENSMUSP00000050873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037701] [ENSMUST00000061885] [ENSMUST00000150819]
Predicted Effect probably benign
Transcript: ENSMUST00000037701
SMART Domains Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 157 180 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000061885
AA Change: R61H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050873
Gene: ENSMUSG00000047150
AA Change: R61H

DomainStartEndE-ValueType
low complexity region 74 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150819
SMART Domains Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 157 237 N/A INTRINSIC
low complexity region 294 312 N/A INTRINSIC
low complexity region 314 325 N/A INTRINSIC
low complexity region 354 364 N/A INTRINSIC
low complexity region 384 423 N/A INTRINSIC
low complexity region 429 444 N/A INTRINSIC
low complexity region 522 535 N/A INTRINSIC
low complexity region 612 627 N/A INTRINSIC
internal_repeat_1 628 654 6.24e-9 PROSPERO
low complexity region 656 671 N/A INTRINSIC
internal_repeat_1 688 714 6.24e-9 PROSPERO
low complexity region 853 863 N/A INTRINSIC
low complexity region 976 1016 N/A INTRINSIC
low complexity region 1147 1154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160678
Meta Mutation Damage Score 0.0228 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (57/60)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,389,864 T22A probably damaging Het
Ache A T 5: 137,291,072 I347F probably damaging Het
Adgrl1 C G 8: 83,938,940 R1464G probably benign Het
Cdh11 T C 8: 102,650,748 D422G probably damaging Het
Cdx1 C T 18: 61,020,438 S176N possibly damaging Het
Csmd3 T C 15: 47,847,271 D1536G probably damaging Het
Cyct G T 2: 76,354,191 P72Q probably damaging Het
Ddx19b A T 8: 111,011,348 L256Q probably damaging Het
Disp1 G T 1: 183,089,173 A561E probably damaging Het
Donson C A 16: 91,688,592 A41S possibly damaging Het
Gldc T C 19: 30,145,658 E279G probably damaging Het
Gpr160 A T 3: 30,896,714 I312F possibly damaging Het
H2-Eb2 G A 17: 34,344,555 probably benign Het
Igdcc4 A G 9: 65,124,151 Q457R probably benign Het
Irf2bp2 T C 8: 126,593,345 D31G probably damaging Het
Klrb1 T A 6: 128,713,634 K42* probably null Het
Lrrfip1 A T 1: 91,110,399 E446D probably benign Het
Macf1 A G 4: 123,473,042 F1077S possibly damaging Het
Maml3 A G 3: 51,689,969 V1098A probably benign Het
Mrgpra4 T C 7: 47,981,119 S245G probably benign Het
Mybbp1a A G 11: 72,451,287 E1283G probably damaging Het
Myh2 A G 11: 67,177,400 S285G possibly damaging Het
Myh7b A G 2: 155,633,399 D1876G probably benign Het
Nr4a2 T C 2: 57,112,379 S21G probably damaging Het
Olfr1049 C A 2: 86,255,322 V124L probably benign Het
Olfr1384 T A 11: 49,513,812 M58K probably damaging Het
Olfr251 T A 9: 38,378,352 M157K probably damaging Het
Olfr843 A G 9: 19,249,087 V104A probably benign Het
Olfr934 T A 9: 38,983,017 Q9L probably benign Het
Pcdhgb8 G C 18: 37,763,541 D555H probably damaging Het
Pcsk6 T C 7: 66,025,308 S476P probably damaging Het
Pex10 T C 4: 155,067,905 probably null Het
Pgf T C 12: 85,171,787 D63G probably benign Het
Piwil4 A G 9: 14,715,000 S465P probably damaging Het
Plcb1 A C 2: 135,345,090 H759P probably damaging Het
Pmfbp1 A T 8: 109,527,628 M432L probably benign Het
Prodh C T 16: 18,073,640 V480I probably benign Het
Rmnd1 A T 10: 4,410,809 probably benign Het
Senp2 G T 16: 22,046,667 W580L probably damaging Het
Svep1 C T 4: 58,046,601 C3510Y possibly damaging Het
Tanc1 A G 2: 59,839,013 I1274V probably damaging Het
Tep1 T C 14: 50,836,806 E1874G probably damaging Het
Tgfbr2 T C 9: 116,109,941 T298A probably damaging Het
Tlk1 G A 2: 70,725,547 R423C probably damaging Het
Trove2 T C 1: 143,770,786 I74V probably benign Het
Trp53rkb T C 2: 166,795,475 I117T probably damaging Het
Ttll9 A G 2: 153,003,007 T432A probably benign Het
Vit A G 17: 78,586,826 H219R probably benign Het
Zfp112 A G 7: 24,126,143 D512G probably benign Het
Zfyve19 A G 2: 119,210,831 K76R possibly damaging Het
Other mutations in 1700001C19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0675:1700001C19Rik UTSW 17 47413776 missense probably benign 0.25
R1529:1700001C19Rik UTSW 17 47413890 missense probably benign 0.11
R2256:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R2257:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R2512:1700001C19Rik UTSW 17 47413726 missense probably benign
R2883:1700001C19Rik UTSW 17 47436725 missense probably damaging 0.99
R3498:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R3499:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R3834:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R3835:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R3901:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R3910:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R3911:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R3913:1700001C19Rik UTSW 17 47433423 unclassified probably benign
R4280:1700001C19Rik UTSW 17 47413855 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GGCTCACAGACTCAAGGAACTC -3'
(R):5'- TGCTGAAAGTGCCCTGCATG -3'

Sequencing Primer
(F):5'- AAGGAACTCGCCTTGGGC -3'
(R):5'- AAAGTGCCCTGCATGGTCTG -3'
Posted On2015-06-10