Incidental Mutation 'R8394:1700129C05Rik'
ID 647539
Institutional Source Beutler Lab
Gene Symbol 1700129C05Rik
Ensembl Gene ENSMUSG00000021977
Gene Name RIKEN cDNA 1700129C05 gene
Synonyms
MMRRC Submission 067758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 59370489-59380342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59379623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 137 (N137S)
Ref Sequence ENSEMBL: ENSMUSP00000022548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022548] [ENSMUST00000159858] [ENSMUST00000162271] [ENSMUST00000162674]
AlphaFold Q9CQ77
Predicted Effect probably benign
Transcript: ENSMUST00000022548
AA Change: N137S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022548
Gene: ENSMUSG00000021977
AA Change: N137S

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159858
SMART Domains Protein: ENSMUSP00000125361
Gene: ENSMUSG00000021977

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162271
AA Change: N36S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000162674
AA Change: N36S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik T A 11: 30,404,880 (GRCm39) probably null Het
Abcc8 A G 7: 45,803,977 (GRCm39) I399T probably benign Het
Aldh3b2 A C 19: 4,029,461 (GRCm39) Q278P probably benign Het
Arl8b A G 6: 108,760,244 (GRCm39) D10G possibly damaging Het
Baiap3 T C 17: 25,469,096 (GRCm39) N229S probably benign Het
Chrdl2 T C 7: 99,666,292 (GRCm39) S71P possibly damaging Het
Cmbl A G 15: 31,585,541 (GRCm39) M142V possibly damaging Het
Cpt1b A G 15: 89,306,490 (GRCm39) probably null Het
Crybg3 T C 16: 59,378,651 (GRCm39) K868E probably benign Het
Efl1 A G 7: 82,411,986 (GRCm39) I792V probably benign Het
Evx2 A G 2: 74,486,321 (GRCm39) L356S probably benign Het
Hspa14 C T 2: 3,513,670 (GRCm39) probably null Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Il7r A G 15: 9,516,504 (GRCm39) F99S probably damaging Het
Klra2 A T 6: 131,222,273 (GRCm39) V6D possibly damaging Het
Lce3c T C 3: 92,852,760 (GRCm39) S74P unknown Het
Nectin2 C T 7: 19,467,137 (GRCm39) probably null Het
Nfil3 A G 13: 53,121,849 (GRCm39) S352P probably benign Het
Nme6 T A 9: 109,664,394 (GRCm39) M1K probably null Het
Or52z13 A T 7: 103,247,404 (GRCm39) I294F probably damaging Het
Otogl A G 10: 107,722,326 (GRCm39) probably null Het
Plcb1 T C 2: 135,159,710 (GRCm39) V391A probably damaging Het
Ptf1a T A 2: 19,450,746 (GRCm39) D25E probably damaging Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Scube1 T C 15: 83,492,492 (GRCm39) Y944C probably damaging Het
Sdk2 A G 11: 113,729,542 (GRCm39) I1039T probably benign Het
Senp7 G T 16: 55,990,190 (GRCm39) W646L possibly damaging Het
Sphkap A T 1: 83,253,797 (GRCm39) N1317K probably benign Het
Strc G T 2: 121,209,490 (GRCm39) Q278K probably benign Het
Tbc1d30 T A 10: 121,183,013 (GRCm39) R142* probably null Het
Tmtc3 T C 10: 100,282,808 (GRCm39) I916V probably damaging Het
Tomm40l A T 1: 171,048,776 (GRCm39) H79Q probably damaging Het
Txndc12 T A 4: 108,713,420 (GRCm39) probably null Het
Vmn2r2 T C 3: 64,044,858 (GRCm39) N96S probably damaging Het
Vmn2r27 T C 6: 124,168,776 (GRCm39) T785A possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp462 A G 4: 55,011,862 (GRCm39) D1276G probably damaging Het
Other mutations in 1700129C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:1700129C05Rik APN 14 59,380,252 (GRCm39) missense possibly damaging 0.85
IGL02960:1700129C05Rik APN 14 59,380,257 (GRCm39) missense probably benign 0.11
PIT4402001:1700129C05Rik UTSW 14 59,380,084 (GRCm39) missense probably damaging 0.99
R0226:1700129C05Rik UTSW 14 59,379,569 (GRCm39) missense possibly damaging 0.92
R0324:1700129C05Rik UTSW 14 59,380,256 (GRCm39) missense probably damaging 0.99
R0345:1700129C05Rik UTSW 14 59,377,079 (GRCm39) missense possibly damaging 0.66
R2251:1700129C05Rik UTSW 14 59,380,061 (GRCm39) missense probably damaging 0.99
R2252:1700129C05Rik UTSW 14 59,380,061 (GRCm39) missense probably damaging 0.99
R2253:1700129C05Rik UTSW 14 59,380,061 (GRCm39) missense probably damaging 0.99
R5574:1700129C05Rik UTSW 14 59,380,205 (GRCm39) missense possibly damaging 0.59
R7572:1700129C05Rik UTSW 14 59,380,128 (GRCm39) missense possibly damaging 0.95
R8346:1700129C05Rik UTSW 14 59,380,221 (GRCm39) missense probably damaging 0.99
X0063:1700129C05Rik UTSW 14 59,377,498 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TGGCTTAATTCAGACCCACAACTG -3'
(R):5'- TGTTTTCCTAGCAGCCCAGC -3'

Sequencing Primer
(F):5'- TGAAGCCAGAATCCTGACTCTGTC -3'
(R):5'- AGCCCAGCATGGTGAAC -3'
Posted On 2020-09-02