Incidental Mutation 'R1851:5730507C01Rik'
ID208118
Institutional Source Beutler Lab
Gene Symbol 5730507C01Rik
Ensembl Gene ENSMUSG00000073197
Gene NameRIKEN cDNA 5730507C01 gene
Synonyms
MMRRC Submission 039875-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #R1851 (G1)
Quality Score132
Status Not validated
Chromosome12
Chromosomal Location18514510-18535254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18533686 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 225 (E225G)
Ref Sequence ENSEMBL: ENSMUSP00000099112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063216] [ENSMUST00000177778]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063216
AA Change: E225G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: E225G

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
KRAB 45 107 1.74e-14 SMART
ZnF_C2H2 144 166 5.54e1 SMART
ZnF_C2H2 172 194 8.75e0 SMART
ZnF_C2H2 200 222 2.43e-4 SMART
ZnF_C2H2 228 250 2.02e-1 SMART
ZnF_C2H2 256 278 1.4e-4 SMART
ZnF_C2H2 284 306 1.84e-4 SMART
ZnF_C2H2 312 334 6.88e-4 SMART
ZnF_C2H2 340 362 9.58e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000177778
AA Change: E249G

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: E249G

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
KRAB 69 131 1.74e-14 SMART
ZnF_C2H2 168 190 5.54e1 SMART
ZnF_C2H2 196 218 8.75e0 SMART
ZnF_C2H2 224 246 2.43e-4 SMART
ZnF_C2H2 252 274 2.02e-1 SMART
ZnF_C2H2 280 302 1.4e-4 SMART
ZnF_C2H2 308 330 1.84e-4 SMART
ZnF_C2H2 336 358 6.88e-4 SMART
ZnF_C2H2 364 386 9.58e-3 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb7 T C X: 104,305,399 M153V probably benign Het
Abi1 A T 2: 22,950,264 V329D possibly damaging Het
Ablim3 G A 18: 61,849,395 H160Y probably benign Het
Acox3 A T 5: 35,609,062 D624V possibly damaging Het
Adam6b A G 12: 113,491,822 D753G probably benign Het
Ago1 C A 4: 126,439,995 R771L probably benign Het
Aktip A G 8: 91,125,877 V217A possibly damaging Het
Ankk1 A C 9: 49,415,850 H676Q probably benign Het
Arl1 G C 10: 88,733,546 probably benign Het
Asxl3 T A 18: 22,517,739 D928E probably damaging Het
AW209491 T C 13: 14,636,733 V57A possibly damaging Het
B3galt4 G T 17: 33,950,911 Q118K probably benign Het
Ccdc187 A T 2: 26,276,068 M783K probably benign Het
Cdon T G 9: 35,483,158 M900R probably damaging Het
Ceacam5 G A 7: 17,714,910 W67* probably null Het
Chd5 A G 4: 152,378,270 S1356G probably damaging Het
Chil3 C T 3: 106,148,801 probably null Het
Chmp7 C T 14: 69,719,450 M336I probably benign Het
Cntn1 C T 15: 92,305,140 R768C probably damaging Het
Col6a3 T A 1: 90,807,534 I798F possibly damaging Het
Cpxcr1 T A X: 116,478,061 L223* probably null Het
Cpz C A 5: 35,502,558 R581L possibly damaging Het
Cxcr2 A G 1: 74,159,279 I311V probably benign Het
Cym T A 3: 107,218,714 I78F probably benign Het
Defb8 A T 8: 19,445,883 S54T probably benign Het
Dennd4a A G 9: 64,862,030 T433A probably damaging Het
Dhx29 A G 13: 112,948,281 T678A probably damaging Het
Dspp T C 5: 104,174,085 probably null Het
Enkur G T 2: 21,189,177 A195E probably benign Het
Ero1lb T A 13: 12,604,403 S429T possibly damaging Het
Fh1 A G 1: 175,607,886 S344P probably damaging Het
Flnc G T 6: 29,443,479 G553V probably damaging Het
Fmo1 A T 1: 162,829,985 L529* probably null Het
Frem1 C A 4: 82,950,500 V1415F probably damaging Het
Gatb T G 3: 85,618,877 L354R probably damaging Het
Gdpgp1 A T 7: 80,238,601 N127Y probably damaging Het
Gm11492 T A 11: 87,568,915 D496E probably damaging Het
Gm13084 T C 4: 143,812,826 I32M probably benign Het
Gm13212 T G 4: 145,624,250 probably benign Het
Gpat2 A G 2: 127,434,819 T648A possibly damaging Het
Grk6 C T 13: 55,451,778 R225* probably null Het
Hells A T 19: 38,959,676 Q682L probably null Het
Hspa5 T A 2: 34,774,678 N381K possibly damaging Het
Ighmbp2 T C 19: 3,262,075 N893S probably benign Het
Ipo11 A T 13: 106,812,257 V914E possibly damaging Het
Lars T C 18: 42,212,608 N1001S probably benign Het
Lats2 A G 14: 57,697,455 L606P probably damaging Het
Map4k1 T C 7: 28,999,784 Y521H probably benign Het
March11 T A 15: 26,387,830 V257E probably damaging Het
Med23 G A 10: 24,910,870 probably null Het
Meltf A G 16: 31,896,577 D696G probably benign Het
Ms4a7 T A 19: 11,324,424 M212L probably benign Het
Mx1 A T 16: 97,448,203 L608Q probably damaging Het
Myh1 T C 11: 67,204,398 Y195H probably damaging Het
Napb G T 2: 148,706,989 H110Q probably benign Het
Ngly1 C T 14: 16,260,585 P90S probably damaging Het
Nlrp1b T A 11: 71,182,616 I134L possibly damaging Het
Nup210 A G 6: 91,016,054 L1017P probably damaging Het
Nup85 T A 11: 115,581,817 I233N probably damaging Het
Obsl1 A G 1: 75,492,893 V965A probably damaging Het
Olfr1259 A C 2: 89,943,814 Y100* probably null Het
Olfr1310 T C 2: 112,008,691 D165G probably benign Het
Olfr787 T C 10: 129,463,501 L275P probably damaging Het
Pak1ip1 A G 13: 41,011,232 T264A possibly damaging Het
Pard6g C T 18: 80,117,142 R157C probably damaging Het
Pcdhb7 A T 18: 37,342,578 T256S possibly damaging Het
Phrf1 T C 7: 141,240,918 F153L probably damaging Het
Pigw A T 11: 84,878,048 F152I probably damaging Het
Pip4k2c A G 10: 127,200,875 S222P probably damaging Het
Pjvk A G 2: 76,657,431 probably null Het
Plxnd1 C T 6: 115,963,914 V1355M probably damaging Het
Prss22 G A 17: 23,996,314 P163S probably damaging Het
Prune2 A G 19: 17,199,139 I154V probably damaging Het
Rapgef6 T A 11: 54,642,811 D362E probably benign Het
Retreg2 A G 1: 75,146,675 K416E probably benign Het
Scn7a T C 2: 66,680,291 I1256V probably benign Het
Sema4d A G 13: 51,711,222 V362A possibly damaging Het
Slc25a34 G A 4: 141,622,268 T192I probably benign Het
Tacc3 G T 5: 33,668,200 V425L probably benign Het
Tfdp2 A T 9: 96,297,709 K125I probably damaging Het
Tjp2 C T 19: 24,099,535 R952Q possibly damaging Het
Tk2 G T 8: 104,248,445 S30* probably null Het
Tmem74 A T 15: 43,867,163 D161E probably benign Het
Tmprss9 G A 10: 80,892,285 V570M probably damaging Het
Tnk2 C A 16: 32,679,462 P26Q probably damaging Het
Tnpo2 T G 8: 85,051,772 V610G probably damaging Het
Trim37 T C 11: 87,218,306 F953S probably damaging Het
U2surp T A 9: 95,482,097 K589* probably null Het
Usp2 G A 9: 44,075,966 R187H probably benign Het
Vmn2r1 C T 3: 64,101,505 T535I probably benign Het
Wdr20rt T A 12: 65,227,151 S463T possibly damaging Het
Zbtb25 C A 12: 76,349,714 G245W probably damaging Het
Zc3h14 T A 12: 98,760,354 L27* probably null Het
Zfp2 T C 11: 50,901,088 K43E probably benign Het
Zfp654 A G 16: 64,785,128 Y904H probably benign Het
Other mutations in 5730507C01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:5730507C01Rik APN 12 18533374 missense possibly damaging 0.91
R0419:5730507C01Rik UTSW 12 18533423 missense possibly damaging 0.53
R1662:5730507C01Rik UTSW 12 18531966 missense possibly damaging 0.53
R1902:5730507C01Rik UTSW 12 18534003 nonsense probably null
R2876:5730507C01Rik UTSW 12 18533643 missense possibly damaging 0.60
R3861:5730507C01Rik UTSW 12 18533410 missense probably benign 0.33
R3934:5730507C01Rik UTSW 12 18534081 missense possibly damaging 0.95
R5774:5730507C01Rik UTSW 12 18531667 missense probably damaging 1.00
R6259:5730507C01Rik UTSW 12 18534119 missense probably benign 0.44
R7647:5730507C01Rik UTSW 12 18514802 missense possibly damaging 0.86
R8053:5730507C01Rik UTSW 12 18533727 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTGCCAATTTTCATTGCAGG -3'
(R):5'- AGTTCTGCAAAGGCTTTACCAC -3'

Sequencing Primer
(F):5'- ATGTTGTAAAGCCTTTCCAACACC -3'
(R):5'- GCAAAGGCTTTACCACATTGATTAC -3'
Posted On2014-06-23