Incidental Mutation 'R7647:5730507C01Rik'
ID 590604
Institutional Source Beutler Lab
Gene Symbol 5730507C01Rik
Ensembl Gene ENSMUSG00000073197
Gene Name RIKEN cDNA 5730507C01 gene
Synonyms
MMRRC Submission 045725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R7647 (G1)
Quality Score 89.0077
Status Validated
Chromosome 12
Chromosomal Location 18564511-18585255 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18564803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 22 (T22K)
Ref Sequence ENSEMBL: ENSMUSP00000137525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063216] [ENSMUST00000177778]
AlphaFold J3QPX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000063216
AA Change: T22K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: T22K

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: T22K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: T22K

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
Meta Mutation Damage Score 0.2235 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,836,656 (GRCm39) M344I probably benign Het
Alg14 T C 3: 121,155,334 (GRCm39) S185P probably damaging Het
Atg13 A T 2: 91,519,006 (GRCm39) H146Q possibly damaging Het
Atmin T G 8: 117,684,661 (GRCm39) F774V possibly damaging Het
Ccdc150 A G 1: 54,395,863 (GRCm39) D782G probably damaging Het
Ccdc86 A G 19: 10,926,363 (GRCm39) S79P unknown Het
Cd180 A T 13: 102,842,451 (GRCm39) E499V probably damaging Het
Cd24a C T 10: 43,458,747 (GRCm39) H73Y unknown Het
Cdh17 C T 4: 11,814,698 (GRCm39) P751L probably damaging Het
Chil3 A G 3: 106,056,122 (GRCm39) L344S possibly damaging Het
Cspp1 A G 1: 10,206,162 (GRCm39) D1129G probably benign Het
Cyth1 C A 11: 118,068,114 (GRCm39) V288L probably benign Het
Ddx19a A T 8: 111,703,259 (GRCm39) probably null Het
Dpysl4 T A 7: 138,679,689 (GRCm39) Y520N possibly damaging Het
Eif4b T A 15: 101,997,129 (GRCm39) M249K unknown Het
Enam G A 5: 88,650,884 (GRCm39) D798N probably benign Het
Fcgbpl1 A G 7: 27,839,470 (GRCm39) K428E probably benign Het
Gldc A G 19: 30,096,067 (GRCm39) V648A probably damaging Het
Gm7995 A G 14: 42,133,308 (GRCm39) I62V possibly damaging Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Kdm5a T A 6: 120,404,747 (GRCm39) S1330T probably benign Het
Mon2 G T 10: 122,841,931 (GRCm39) P1553Q probably benign Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Nphs1 T A 7: 30,181,390 (GRCm39) probably null Het
Nsd1 A G 13: 55,447,648 (GRCm39) T1924A probably damaging Het
Obscn T A 11: 58,888,113 (GRCm39) probably null Het
Or11l3 A T 11: 58,516,029 (GRCm39) V281D probably damaging Het
Or52h9 T C 7: 104,202,893 (GRCm39) F256L probably benign Het
Or6c213 A T 10: 129,574,070 (GRCm39) C239S probably damaging Het
Or6c6 T C 10: 129,187,326 (GRCm39) V298A probably benign Het
Pcsk1 A G 13: 75,280,329 (GRCm39) D718G possibly damaging Het
Pitrm1 A T 13: 6,605,444 (GRCm39) N158I probably damaging Het
Pkd1l1 C T 11: 8,897,296 (GRCm39) V538M Het
Prkdc G T 16: 15,555,807 (GRCm39) G2194C probably damaging Het
Psmc5 T C 11: 106,152,433 (GRCm39) M150T possibly damaging Het
Rint1 T C 5: 24,005,800 (GRCm39) Y161H probably damaging Het
Sdk2 T C 11: 113,684,563 (GRCm39) K1966R probably damaging Het
Sgcb A T 5: 73,796,720 (GRCm39) probably null Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Sp100 A G 1: 85,619,764 (GRCm39) K353E possibly damaging Het
Ssh1 T C 5: 114,081,019 (GRCm39) T804A probably benign Het
Vipr1 T C 9: 121,482,905 (GRCm39) L40P possibly damaging Het
Vmn1r7 A G 6: 57,002,255 (GRCm39) S2P probably benign Het
Vwa8 T C 14: 79,172,669 (GRCm39) S304P probably damaging Het
Zbed4 T C 15: 88,665,924 (GRCm39) M664T probably damaging Het
Other mutations in 5730507C01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:5730507C01Rik APN 12 18,583,375 (GRCm39) missense possibly damaging 0.91
R0419:5730507C01Rik UTSW 12 18,583,424 (GRCm39) missense possibly damaging 0.53
R1662:5730507C01Rik UTSW 12 18,581,967 (GRCm39) missense possibly damaging 0.53
R1851:5730507C01Rik UTSW 12 18,583,687 (GRCm39) missense possibly damaging 0.95
R1902:5730507C01Rik UTSW 12 18,584,004 (GRCm39) nonsense probably null
R2876:5730507C01Rik UTSW 12 18,583,644 (GRCm39) missense possibly damaging 0.60
R3861:5730507C01Rik UTSW 12 18,583,411 (GRCm39) missense probably benign 0.33
R3934:5730507C01Rik UTSW 12 18,584,082 (GRCm39) missense possibly damaging 0.95
R5774:5730507C01Rik UTSW 12 18,581,668 (GRCm39) missense probably damaging 1.00
R6259:5730507C01Rik UTSW 12 18,584,120 (GRCm39) missense probably benign 0.44
R8053:5730507C01Rik UTSW 12 18,583,728 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTGCAGAGGACTCGGTAGC -3'
(R):5'- AAACTTTTCCCGGGTGTGG -3'

Sequencing Primer
(F):5'- AGGACTCGGTAGCTGCAG -3'
(R):5'- GCACTGGGTATCAGGCA -3'
Posted On 2019-10-24