Incidental Mutation 'R0345:1700129C05Rik'
ID38408
Institutional Source Beutler Lab
Gene Symbol 1700129C05Rik
Ensembl Gene ENSMUSG00000021977
Gene NameRIKEN cDNA 1700129C05 gene
Synonyms
MMRRC Submission 038552-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R0345 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location59133040-59142893 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59139630 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 105 (N105D)
Ref Sequence ENSEMBL: ENSMUSP00000125379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022548] [ENSMUST00000159858] [ENSMUST00000162271] [ENSMUST00000162674]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022548
AA Change: N206D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022548
Gene: ENSMUSG00000021977
AA Change: N206D

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000159858
AA Change: N179D
SMART Domains Protein: ENSMUSP00000125361
Gene: ENSMUSG00000021977
AA Change: N179D

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162271
Predicted Effect possibly damaging
Transcript: ENSMUST00000162674
AA Change: N105D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.0508 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,638,272 probably benign Het
Adgrb1 A G 15: 74,543,349 N641S probably damaging Het
Aff4 T A 11: 53,372,881 S243T probably benign Het
Agap2 A G 10: 127,087,895 H713R unknown Het
Ap2a2 T A 7: 141,631,293 M914K probably damaging Het
Bcl7c A T 7: 127,708,463 M22K possibly damaging Het
Cacna1i A T 15: 80,372,462 D1019V probably damaging Het
Cd7 T C 11: 121,038,186 T80A probably benign Het
Chia1 T C 3: 106,122,439 Y130H probably damaging Het
Chmp6 T C 11: 119,918,046 probably benign Het
Chrnb4 A G 9: 55,035,594 V132A probably benign Het
Ctnna3 A G 10: 63,566,840 D110G probably benign Het
Cyp2d37-ps A T 15: 82,689,774 noncoding transcript Het
Dnah6 T C 6: 73,021,257 M4061V probably benign Het
Dydc2 C A 14: 41,061,946 M73I probably benign Het
Egflam G T 15: 7,289,994 probably null Het
Fam205a1 T C 4: 42,851,116 I347V probably benign Het
Fam228b C T 12: 4,748,351 V151I possibly damaging Het
Fam46b A T 4: 133,486,211 Q131L probably benign Het
Fanca C T 8: 123,304,813 V380I probably damaging Het
Gbp2b T C 3: 142,608,183 L408S probably damaging Het
Kcnh4 T C 11: 100,757,681 S66G probably benign Het
Kcnq3 A T 15: 66,020,305 V407D possibly damaging Het
Kif24 A T 4: 41,428,413 D182E probably benign Het
Llgl2 A G 11: 115,849,992 probably benign Het
Lmo7 T A 14: 101,876,877 N140K probably damaging Het
Myo5c A G 9: 75,297,419 E1518G probably damaging Het
Myof A T 19: 38,024,345 N47K probably damaging Het
Nckap1 G T 2: 80,544,977 probably benign Het
Nlrp1a C A 11: 71,123,675 G250W probably damaging Het
Nol4l T A 2: 153,411,752 S390C probably benign Het
Olfr196 G A 16: 59,167,906 P79L possibly damaging Het
Olfr670 T A 7: 104,960,181 M184L probably damaging Het
Olfr701 T C 7: 106,818,701 F206S probably benign Het
Olfr992 T C 2: 85,400,341 Q64R possibly damaging Het
Plec G T 15: 76,177,167 P2886T probably damaging Het
Prdm16 T C 4: 154,341,111 Y738C probably benign Het
Ptprz1 A G 6: 23,016,165 Y820C probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Sgce G A 6: 4,718,019 P98S probably damaging Het
Siglecf T C 7: 43,351,944 F112S probably damaging Het
Slc6a16 C T 7: 45,259,248 A84V possibly damaging Het
Sntb2 T C 8: 107,001,538 S373P probably damaging Het
Sorcs2 C T 5: 36,027,874 V953I probably benign Het
St7l T C 3: 104,895,809 probably benign Het
Stap2 A G 17: 56,000,097 V217A probably damaging Het
Stxbp5l A T 16: 37,288,308 D215E probably damaging Het
Synm C T 7: 67,735,821 V256I probably benign Het
Syt13 A C 2: 92,946,067 E233A possibly damaging Het
Tecta T A 9: 42,384,218 E327V probably damaging Het
Themis3 A T 17: 66,559,545 probably null Het
Ttll13 T A 7: 80,247,336 D14E probably benign Het
Tubb2a A C 13: 34,076,637 D26E probably benign Het
Ubr1 T C 2: 120,904,103 probably null Het
Vps13d A T 4: 145,117,625 V2537E possibly damaging Het
Zscan10 T A 17: 23,610,082 F456I probably damaging Het
Zyg11b A G 4: 108,266,407 I121T probably damaging Het
Other mutations in 1700129C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:1700129C05Rik APN 14 59142803 missense possibly damaging 0.85
IGL02960:1700129C05Rik APN 14 59142808 missense probably benign 0.11
R0226:1700129C05Rik UTSW 14 59142120 missense possibly damaging 0.92
R0324:1700129C05Rik UTSW 14 59142807 missense probably damaging 0.99
R2251:1700129C05Rik UTSW 14 59142612 missense probably damaging 0.99
R2252:1700129C05Rik UTSW 14 59142612 missense probably damaging 0.99
R2253:1700129C05Rik UTSW 14 59142612 missense probably damaging 0.99
R5574:1700129C05Rik UTSW 14 59142756 missense possibly damaging 0.59
X0063:1700129C05Rik UTSW 14 59140049 missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CTCAAATGTGCAGCAGAAGTGGC -3'
(R):5'- AGGGGCAAATCAGTGATCTTGGTG -3'

Sequencing Primer
(F):5'- TGTGTTCCTAGCCAGGACAG -3'
(R):5'- GTCACACTGAAAGGCCTCAA -3'
Posted On2013-05-23