Incidental Mutation 'BB006:G530012D18Rik'
ID 642332
Institutional Source Beutler Lab
Gene Symbol G530012D18Rik
Ensembl Gene ENSMUSG00000094127
Gene Name RIKEN cDNA G530012D1 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # BB006
Quality Score 140.008
Status Not validated
Chromosome 1
Chromosomal Location 85503397-85505016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 85504935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 113 (D113E)
Ref Sequence ENSEMBL: ENSMUSP00000136816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093508] [ENSMUST00000178024]
AlphaFold J3QK25
Predicted Effect probably benign
Transcript: ENSMUST00000093508
SMART Domains Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034

DomainStartEndE-ValueType
Pfam:Sp100 8 106 2.3e-41 PFAM
low complexity region 242 254 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
SAND 360 433 3.55e-28 SMART
Predicted Effect unknown
Transcript: ENSMUST00000178024
AA Change: D113E
SMART Domains Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127
AA Change: D113E

DomainStartEndE-ValueType
low complexity region 1 10 N/A INTRINSIC
low complexity region 82 122 N/A INTRINSIC
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,289,412 (GRCm39) I105F possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Adra1d G T 2: 131,403,600 (GRCm39) C163* probably null Het
Ak9 A G 10: 41,259,944 (GRCm39) D874G Het
Akap8 A T 17: 32,528,419 (GRCm39) S498T probably damaging Het
Alyref2 C G 1: 171,331,407 (GRCm39) F61L probably benign Het
Ank1 A T 8: 23,606,123 (GRCm39) I1172F probably damaging Het
Ankrd50 A T 3: 38,511,258 (GRCm39) F370I probably damaging Het
Apip A C 2: 102,913,366 (GRCm39) T41P probably benign Het
Atg4d G A 9: 21,178,260 (GRCm39) R126Q probably null Het
Ccdc86 A G 19: 10,926,183 (GRCm39) S139P unknown Het
Ceacam16 A G 7: 19,587,556 (GRCm39) L404P probably damaging Het
Dennd3 G T 15: 73,436,423 (GRCm39) V1010L probably damaging Het
Disp1 A G 1: 182,917,103 (GRCm39) S108P probably benign Het
Ecpas A G 4: 58,869,554 (GRCm39) C238R probably damaging Het
Ephb2 A G 4: 136,388,195 (GRCm39) V635A probably damaging Het
Gars1 A G 6: 55,040,102 (GRCm39) H343R probably damaging Het
Gli2 A T 1: 118,769,772 (GRCm39) N593K possibly damaging Het
Il18rap T A 1: 40,570,740 (GRCm39) N227K probably damaging Het
Il4ra T C 7: 125,174,348 (GRCm39) S297P probably benign Het
Itprid1 G A 6: 55,874,946 (GRCm39) V299M probably damaging Het
Jak1 A T 4: 101,011,842 (GRCm39) F1087I probably damaging Het
Klf16 A G 10: 80,412,698 (GRCm39) S113P probably benign Het
Klhl30 A T 1: 91,283,238 (GRCm39) E280V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lama4 A G 10: 38,954,843 (GRCm39) H1132R probably damaging Het
Lmtk3 A G 7: 45,444,572 (GRCm39) D1085G unknown Het
Lrrc9 C A 12: 72,533,071 (GRCm39) T980K possibly damaging Het
Nceh1 A G 3: 27,333,396 (GRCm39) D164G probably benign Het
Nlrp2 A G 7: 5,330,498 (GRCm39) S633P probably damaging Het
Nxn A G 11: 76,164,863 (GRCm39) V216A possibly damaging Het
Odf4 A T 11: 68,813,759 (GRCm39) V143D possibly damaging Het
Or4d6 G A 19: 12,086,118 (GRCm39) T38I unknown Het
Pex12 A G 11: 83,188,809 (GRCm39) I62T probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plekhg1 G A 10: 3,869,170 (GRCm39) D237N probably damaging Het
Rxrb T A 17: 34,255,645 (GRCm39) D377E probably benign Het
Ryr2 T A 13: 11,609,680 (GRCm39) D4382V probably damaging Het
Ryr2 T A 13: 11,705,181 (GRCm39) K2862* probably null Het
Ryr3 A G 2: 112,664,533 (GRCm39) L1606P probably benign Het
Samd3 A G 10: 26,127,813 (GRCm39) K270R probably damaging Het
Slc2a5 C A 4: 150,223,942 (GRCm39) F211L probably benign Het
Spata31 T A 13: 65,069,532 (GRCm39) V560D probably benign Het
Tbk1 A G 10: 121,393,138 (GRCm39) C471R probably benign Het
Tbx20 A T 9: 24,637,059 (GRCm39) S343T possibly damaging Het
Tesk2 A G 4: 116,659,452 (GRCm39) E304G probably benign Het
Tle1 A G 4: 72,118,239 (GRCm39) F2L possibly damaging Het
Tle4 G T 19: 14,495,244 (GRCm39) P162T probably benign Het
Ttn G A 2: 76,673,816 (GRCm39) P11172S unknown Het
Tulp1 T C 17: 28,572,746 (GRCm39) N470S possibly damaging Het
Unc13b A G 4: 43,174,399 (GRCm39) I1742M unknown Het
Vmn2r107 T G 17: 20,565,706 (GRCm39) I7S probably null Het
Vmn2r91 T G 17: 18,327,906 (GRCm39) I500R probably damaging Het
Xpnpep3 A G 15: 81,311,626 (GRCm39) I111V probably damaging Het
Zp3r T A 1: 130,519,217 (GRCm39) E308V probably benign Het
Other mutations in G530012D18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB001:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB003:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB005:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB011:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB013:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB015:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB016:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
FR4340:G530012D18Rik UTSW 1 85,504,873 (GRCm39) small deletion probably benign
FR4449:G530012D18Rik UTSW 1 85,504,901 (GRCm39) small deletion probably benign
FR4737:G530012D18Rik UTSW 1 85,504,899 (GRCm39) frame shift probably null
IGL03050:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
PIT4142001:G530012D18Rik UTSW 1 85,504,925 (GRCm39) utr 3 prime probably benign
R0707:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R0730:G530012D18Rik UTSW 1 85,504,757 (GRCm39) utr 3 prime probably benign
R0819:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1053:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1155:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1236:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1245:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1880:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1961:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R2033:G530012D18Rik UTSW 1 85,504,875 (GRCm39) frame shift probably null
R2055:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R2510:G530012D18Rik UTSW 1 85,504,925 (GRCm39) utr 3 prime probably benign
R2903:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R2989:G530012D18Rik UTSW 1 85,504,937 (GRCm39) frame shift probably null
R3000:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R3757:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R3914:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R4358:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R4407:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R4417:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R5086:G530012D18Rik UTSW 1 85,504,941 (GRCm39) utr 3 prime probably benign
R5389:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R7212:G530012D18Rik UTSW 1 85,504,864 (GRCm39) missense unknown
R7823:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R7924:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7926:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7927:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7928:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7929:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8162:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8163:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8164:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8263:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8264:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8265:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8491:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8492:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8524:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8742:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8744:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
X0023:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ATCGTGAGCGTGTACCACAG -3'
(R):5'- ATACAGGTGTTTCCTAAAGGGG -3'

Sequencing Primer
(F):5'- TGTACCACAGTGCTGGGTCAG -3'
(R):5'- GGGGGAAACATCAATATTCACAAG -3'
Posted On 2020-08-01