Incidental Mutation 'R7825:1700013G24Rik'
ID602121
Institutional Source Beutler Lab
Gene Symbol 1700013G24Rik
Ensembl Gene ENSMUSG00000041399
Gene NameRIKEN cDNA 1700013G24 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R7825 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location137453284-137455461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 137455343 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 270 (R270C)
Ref Sequence ENSEMBL: ENSMUSP00000043461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048893]
Predicted Effect probably damaging
Transcript: ENSMUST00000048893
AA Change: R270C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043461
Gene: ENSMUSG00000041399
AA Change: R270C

DomainStartEndE-ValueType
low complexity region 44 65 N/A INTRINSIC
low complexity region 181 203 N/A INTRINSIC
SCOP:d1i50b_ 216 261 3e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl2 C A 4: 126,321,696 probably benign Het
Akp3 TCACCACCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCACCACCAC 1: 87,127,767 probably benign Het
Ambra1 A G 2: 91,767,761 H89R probably damaging Het
Atp1a1 T C 3: 101,586,169 N540D probably benign Het
Cd38 A T 5: 43,901,455 H137L probably damaging Het
Cmya5 G T 13: 93,097,628 H317Q possibly damaging Het
Cpeb2 A T 5: 43,237,539 D95V probably damaging Het
Cyp2f2 G A 7: 27,129,253 V183I probably benign Het
Dcst1 A G 3: 89,352,821 L572P possibly damaging Het
Ephb4 T C 5: 137,372,437 S911P probably damaging Het
Fam186b T C 15: 99,283,847 T157A not run Het
Gnmt T C 17: 46,729,093 D20G probably damaging Het
Gpatch8 A C 11: 102,481,442 D423E unknown Het
Gtf3c2 T C 5: 31,158,371 H790R probably damaging Het
Hepacam T C 9: 37,384,768 I405T probably benign Het
Hspg2 T A 4: 137,558,849 V3574E probably damaging Het
Ifi202b A C 1: 173,975,050 F73V probably damaging Het
Kcnb1 A T 2: 167,105,972 S319T probably damaging Het
Krt16 T A 11: 100,248,634 D86V unknown Het
Krt76 T A 15: 101,887,503 T411S possibly damaging Het
Myh8 A T 11: 67,303,712 D1583V possibly damaging Het
Nav1 A T 1: 135,450,044 V1689D probably damaging Het
Ncor2 T C 5: 125,037,077 T611A possibly damaging Het
Nipbl T A 15: 8,291,487 Y2712F probably damaging Het
Ntng2 T A 2: 29,204,078 H427L probably benign Het
Nxf2 GGTCCTTGCCATCCTGAGGATTTCCTGTCGGTACTATTAAGTCCTTGCCATCCTGAGGATTTCCTGTCGGTACTATTAAGTCCTTGCCAT GGTCCTTGCCATCCTGAGGATTTCCTGTCGGTACTATTAAGTCCTTGCCAT X: 134,951,973 probably benign Het
Pcdhga4 T A 18: 37,687,321 L641Q probably damaging Het
Phc1 T C 6: 122,322,381 K623R probably benign Het
Polr1b C A 2: 129,125,544 F952L probably damaging Het
Prcc T A 3: 87,869,745 E307D possibly damaging Het
Prss27 T C 17: 24,042,958 F80S probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,579,909 probably benign Het
Serpina11 T C 12: 103,984,577 Q295R probably benign Het
Sgk2 G T 2: 163,006,881 V284L possibly damaging Het
Slc15a2 C T 16: 36,753,034 V603I possibly damaging Het
Smpd3 A C 8: 106,255,622 C617G probably benign Het
Stat1 A G 1: 52,151,308 H574R probably damaging Het
Ston1 T C 17: 88,636,453 V429A possibly damaging Het
Tep1 T C 14: 50,843,887 probably null Het
Tesk1 A C 4: 43,447,143 R510S probably damaging Het
Themis A G 10: 28,782,474 E499G probably benign Het
Thra G A 11: 98,762,948 V202I probably benign Het
Tiam1 A T 16: 89,898,089 M160K probably benign Het
Tmc1 T C 19: 20,804,645 I570V possibly damaging Het
Treml1 C A 17: 48,366,756 P270Q probably damaging Het
Ttc39d A G 17: 80,216,146 N78S probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,399,157 probably null Het
Ttll3 AAGTA AAGTAGAGTA 6: 113,399,159 probably null Het
Ube3b T A 5: 114,401,312 L388Q probably damaging Het
Ugt2b35 T A 5: 87,001,359 C156* probably null Het
Vmn1r35 A T 6: 66,679,459 C76S probably damaging Het
Wwc2 A G 8: 47,990,162 L12P probably damaging Het
Zfat T C 15: 68,179,920 E668G probably benign Het
Zfp40 T C 17: 23,176,327 T429A probably benign Het
Other mutations in 1700013G24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:1700013G24Rik APN 4 137455262 missense possibly damaging 0.82
IGL02646:1700013G24Rik APN 4 137454790 nonsense probably null
R0526:1700013G24Rik UTSW 4 137455224 missense possibly damaging 0.92
R1449:1700013G24Rik UTSW 4 137455355 missense possibly damaging 0.94
R3743:1700013G24Rik UTSW 4 137455037 missense probably damaging 0.96
R5357:1700013G24Rik UTSW 4 137455152 missense possibly damaging 0.90
R6265:1700013G24Rik UTSW 4 137454675 missense probably damaging 1.00
R6586:1700013G24Rik UTSW 4 137455328 missense possibly damaging 0.90
R6720:1700013G24Rik UTSW 4 137454686 missense possibly damaging 0.94
R6988:1700013G24Rik UTSW 4 137454579 missense probably damaging 1.00
R7640:1700013G24Rik UTSW 4 137454594 missense probably damaging 0.99
Z1176:1700013G24Rik UTSW 4 137454992 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACAACTGCTTGGTCCCTTC -3'
(R):5'- ATATGTTGTGTCAGGAGTTCCAGC -3'

Sequencing Primer
(F):5'- TCGGGACACCAAGAGCCTG -3'
(R):5'- CCTGGGCAACTGAGTTGAGAC -3'
Posted On2019-12-03