Incidental Mutation 'R8228:1700008O03Rik'
ID 637053
Institutional Source Beutler Lab
Gene Symbol 1700008O03Rik
Ensembl Gene ENSMUSG00000008028
Gene Name RIKEN cDNA 1700008O03 gene
Synonyms
MMRRC Submission 067661-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R8228 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44009467-44035116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44009729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 158 (Y158H)
Ref Sequence ENSEMBL: ENSMUSP00000103566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107933] [ENSMUST00000107934] [ENSMUST00000107935] [ENSMUST00000107938] [ENSMUST00000150886]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000107933
AA Change: Y158H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103566
Gene: ENSMUSG00000008028
AA Change: Y158H

DomainStartEndE-ValueType
Pfam:DUF4732 23 179 4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107934
SMART Domains Protein: ENSMUSP00000103567
Gene: ENSMUSG00000038738

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
ANK 212 242 5.75e-1 SMART
ANK 246 275 3.6e-2 SMART
ANK 279 309 3.44e1 SMART
ANK 313 342 1.97e1 SMART
ANK 346 375 3.97e-4 SMART
ANK 379 407 5.69e2 SMART
low complexity region 452 479 N/A INTRINSIC
low complexity region 487 504 N/A INTRINSIC
low complexity region 521 548 N/A INTRINSIC
SH3 557 612 3.73e-16 SMART
PDZ 663 752 2.12e-13 SMART
Blast:PDZ 795 830 5e-11 BLAST
low complexity region 920 941 N/A INTRINSIC
low complexity region 955 982 N/A INTRINSIC
low complexity region 993 1023 N/A INTRINSIC
low complexity region 1051 1080 N/A INTRINSIC
low complexity region 1123 1138 N/A INTRINSIC
low complexity region 1162 1175 N/A INTRINSIC
low complexity region 1179 1220 N/A INTRINSIC
low complexity region 1256 1275 N/A INTRINSIC
low complexity region 1298 1323 N/A INTRINSIC
low complexity region 1348 1359 N/A INTRINSIC
low complexity region 1369 1404 N/A INTRINSIC
low complexity region 1450 1466 N/A INTRINSIC
low complexity region 1512 1532 N/A INTRINSIC
low complexity region 1539 1555 N/A INTRINSIC
low complexity region 1557 1570 N/A INTRINSIC
low complexity region 1580 1614 N/A INTRINSIC
low complexity region 1633 1667 N/A INTRINSIC
low complexity region 1685 1720 N/A INTRINSIC
low complexity region 1735 1746 N/A INTRINSIC
low complexity region 1776 1787 N/A INTRINSIC
low complexity region 1806 1823 N/A INTRINSIC
low complexity region 1834 1852 N/A INTRINSIC
low complexity region 1893 1907 N/A INTRINSIC
low complexity region 1925 1936 N/A INTRINSIC
low complexity region 1942 1976 N/A INTRINSIC
low complexity region 1988 2004 N/A INTRINSIC
low complexity region 2009 2029 N/A INTRINSIC
low complexity region 2059 2083 N/A INTRINSIC
SAM 2092 2158 1.35e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107935
SMART Domains Protein: ENSMUSP00000103568
Gene: ENSMUSG00000038738

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
ANK 212 242 5.75e-1 SMART
ANK 246 275 3.6e-2 SMART
ANK 279 309 3.44e1 SMART
ANK 313 342 1.97e1 SMART
ANK 346 375 3.97e-4 SMART
ANK 379 407 5.69e2 SMART
low complexity region 452 479 N/A INTRINSIC
low complexity region 487 504 N/A INTRINSIC
low complexity region 521 548 N/A INTRINSIC
SH3 557 612 3.73e-16 SMART
low complexity region 648 659 N/A INTRINSIC
PDZ 672 761 2.12e-13 SMART
Blast:PDZ 796 831 1e-10 BLAST
low complexity region 921 942 N/A INTRINSIC
low complexity region 956 983 N/A INTRINSIC
low complexity region 994 1024 N/A INTRINSIC
low complexity region 1052 1081 N/A INTRINSIC
low complexity region 1124 1139 N/A INTRINSIC
low complexity region 1163 1176 N/A INTRINSIC
low complexity region 1180 1221 N/A INTRINSIC
low complexity region 1257 1276 N/A INTRINSIC
low complexity region 1299 1324 N/A INTRINSIC
low complexity region 1349 1360 N/A INTRINSIC
low complexity region 1370 1405 N/A INTRINSIC
low complexity region 1451 1467 N/A INTRINSIC
low complexity region 1513 1533 N/A INTRINSIC
low complexity region 1540 1556 N/A INTRINSIC
low complexity region 1558 1571 N/A INTRINSIC
low complexity region 1581 1615 N/A INTRINSIC
low complexity region 1634 1668 N/A INTRINSIC
low complexity region 1686 1721 N/A INTRINSIC
low complexity region 1736 1747 N/A INTRINSIC
low complexity region 1777 1788 N/A INTRINSIC
low complexity region 1807 1824 N/A INTRINSIC
low complexity region 1835 1853 N/A INTRINSIC
low complexity region 1894 1908 N/A INTRINSIC
low complexity region 1926 1937 N/A INTRINSIC
low complexity region 1943 1977 N/A INTRINSIC
low complexity region 1989 2005 N/A INTRINSIC
low complexity region 2010 2030 N/A INTRINSIC
low complexity region 2060 2084 N/A INTRINSIC
SAM 2093 2159 1.35e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107938
SMART Domains Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
Pfam:FERM_f0 73 156 6.6e-17 PFAM
ANK 212 242 5.75e-1 SMART
ANK 246 275 3.6e-2 SMART
ANK 279 309 3.44e1 SMART
ANK 313 342 1.97e1 SMART
ANK 346 375 3.97e-4 SMART
ANK 379 407 5.69e2 SMART
low complexity region 452 479 N/A INTRINSIC
low complexity region 487 504 N/A INTRINSIC
low complexity region 521 548 N/A INTRINSIC
SH3 557 612 3.73e-16 SMART
low complexity region 648 659 N/A INTRINSIC
PDZ 672 761 2.12e-13 SMART
Blast:PDZ 804 839 5e-11 BLAST
low complexity region 929 950 N/A INTRINSIC
low complexity region 964 991 N/A INTRINSIC
low complexity region 1002 1032 N/A INTRINSIC
low complexity region 1060 1089 N/A INTRINSIC
low complexity region 1132 1147 N/A INTRINSIC
low complexity region 1171 1184 N/A INTRINSIC
low complexity region 1188 1229 N/A INTRINSIC
low complexity region 1265 1284 N/A INTRINSIC
low complexity region 1307 1332 N/A INTRINSIC
low complexity region 1357 1368 N/A INTRINSIC
low complexity region 1378 1413 N/A INTRINSIC
low complexity region 1459 1475 N/A INTRINSIC
low complexity region 1521 1541 N/A INTRINSIC
low complexity region 1548 1564 N/A INTRINSIC
low complexity region 1566 1579 N/A INTRINSIC
low complexity region 1589 1623 N/A INTRINSIC
low complexity region 1642 1676 N/A INTRINSIC
low complexity region 1694 1729 N/A INTRINSIC
low complexity region 1744 1755 N/A INTRINSIC
low complexity region 1785 1796 N/A INTRINSIC
low complexity region 1815 1832 N/A INTRINSIC
low complexity region 1843 1861 N/A INTRINSIC
low complexity region 1902 1916 N/A INTRINSIC
low complexity region 1934 1945 N/A INTRINSIC
low complexity region 1951 1985 N/A INTRINSIC
low complexity region 1997 2013 N/A INTRINSIC
low complexity region 2018 2038 N/A INTRINSIC
low complexity region 2068 2092 N/A INTRINSIC
SAM 2101 2167 1.35e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150886
AA Change: Y127H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123280
Gene: ENSMUSG00000008028
AA Change: Y127H

DomainStartEndE-ValueType
low complexity region 111 125 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T C 6: 72,324,500 (GRCm39) probably null Het
4930438A08Rik T A 11: 58,182,381 (GRCm39) I252N Het
A930011G23Rik G A 5: 99,524,980 (GRCm39) P60S probably damaging Het
Abcf1 A G 17: 36,271,933 (GRCm39) probably null Het
AI987944 T C 7: 41,026,260 (GRCm39) T14A probably damaging Het
Alox12b T C 11: 69,054,755 (GRCm39) Y253H probably damaging Het
Anapc1 T A 2: 128,461,837 (GRCm39) K1756* probably null Het
Arid5b T A 10: 68,114,536 (GRCm39) E2V possibly damaging Het
Atp13a1 G A 8: 70,251,569 (GRCm39) V545M probably damaging Het
Atp2b4 TTCTTC TTCTTCCTCTTC 1: 133,629,459 (GRCm39) probably benign Het
Cert1 A G 13: 96,679,723 (GRCm39) T18A probably benign Het
Cfap119 G A 7: 127,184,179 (GRCm39) T239M probably benign Het
Col1a1 T G 11: 94,836,426 (GRCm39) probably null Het
Csdc2 C T 15: 81,833,411 (GRCm39) T136I possibly damaging Het
Dpp9 A T 17: 56,498,129 (GRCm39) I609N probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gjb6 T C 14: 57,361,926 (GRCm39) R112G probably benign Het
Gm19410 A G 8: 36,252,992 (GRCm39) K646E possibly damaging Het
Grik5 T C 7: 24,709,933 (GRCm39) E934G probably damaging Het
Grik5 A T 7: 24,745,735 (GRCm39) F446Y possibly damaging Het
Iffo2 C G 4: 139,302,483 (GRCm39) N75K probably damaging Het
Kif15 A G 9: 122,821,041 (GRCm39) N649D possibly damaging Het
Lrit2 G A 14: 36,791,148 (GRCm39) A276T probably damaging Het
Mcm8 T C 2: 132,684,714 (GRCm39) probably null Het
Mmut A G 17: 41,248,219 (GRCm39) E82G possibly damaging Het
Or4n4 A G 14: 50,518,997 (GRCm39) S238P probably damaging Het
Or5w8 T A 2: 87,688,284 (GRCm39) M255K probably benign Het
Pcdhga8 A G 18: 37,861,236 (GRCm39) Q764R probably benign Het
Pcgf2 T C 11: 97,582,865 (GRCm39) Y138C probably benign Het
Phf20l1 G T 15: 66,511,789 (GRCm39) V922F possibly damaging Het
Pkd1l2 A T 8: 117,792,514 (GRCm39) I426N probably damaging Het
Psmd6 T C 14: 14,116,843 (GRCm38) N160S possibly damaging Het
Robo1 A G 16: 72,809,768 (GRCm39) D1172G probably benign Het
Sdr9c7 T C 10: 127,734,544 (GRCm39) Y11H possibly damaging Het
Sec24c G T 14: 20,739,975 (GRCm39) A635S probably benign Het
Tex2 T C 11: 106,457,997 (GRCm39) I478V probably benign Het
Traip T C 9: 107,838,265 (GRCm39) M166T probably benign Het
Trdn T C 10: 33,033,014 (GRCm39) S80P probably damaging Het
Trim46 G T 3: 89,142,255 (GRCm39) T744N probably benign Het
Tsc1 C A 2: 28,566,141 (GRCm39) A520D probably benign Het
Usp36 T C 11: 118,155,716 (GRCm39) E852G possibly damaging Het
Vmn2r101 C T 17: 19,811,284 (GRCm39) T456I probably benign Het
Zc3h7a A G 16: 10,956,954 (GRCm39) F885S probably damaging Het
Zfp335 G A 2: 164,746,818 (GRCm39) R354W probably damaging Het
Zfp456 C A 13: 67,514,533 (GRCm39) C391F probably damaging Het
Other mutations in 1700008O03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:1700008O03Rik APN 7 44,009,610 (GRCm39) makesense probably null
IGL02933:1700008O03Rik APN 7 44,012,436 (GRCm39) missense possibly damaging 0.90
R2372:1700008O03Rik UTSW 7 44,009,704 (GRCm39) missense probably damaging 1.00
R5468:1700008O03Rik UTSW 7 44,009,659 (GRCm39) missense probably damaging 0.99
R5540:1700008O03Rik UTSW 7 44,012,371 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCGAGAGAAATGGCTTTTG -3'
(R):5'- AACGATCCAGCTGAGAAGAC -3'

Sequencing Primer
(F):5'- CCGAGAGAAATGGCTTTTGTATCAG -3'
(R):5'- TCCAGCTGAGAAGACCGCAG -3'
Posted On 2020-07-13