Incidental Mutation 'R1808:2310011J03Rik'
ID 203614
Institutional Source Beutler Lab
Gene Symbol 2310011J03Rik
Ensembl Gene ENSMUSG00000020133
Gene Name RIKEN cDNA 2310011J03 gene
Synonyms
MMRRC Submission 039837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R1808 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80154088-80156371 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 80156015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020340] [ENSMUST00000020341] [ENSMUST00000020349] [ENSMUST00000105359] [ENSMUST00000128653] [ENSMUST00000135071]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020340
SMART Domains Protein: ENSMUSP00000020340
Gene: ENSMUSG00000020131

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:S8_pro-domain 34 110 1.2e-24 PFAM
Pfam:Peptidase_S8 146 429 3.1e-50 PFAM
Pfam:P_proprotein 488 574 5e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000020341
SMART Domains Protein: ENSMUSP00000020341
Gene: ENSMUSG00000020133

DomainStartEndE-ValueType
Pfam:UPF0449 6 103 7.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020349
SMART Domains Protein: ENSMUSP00000020349
Gene: ENSMUSG00000020135

DomainStartEndE-ValueType
PDB:1DEB|B 4 57 9e-17 PDB
Pfam:Suppressor_APC 123 205 1.3e-28 PFAM
coiled coil region 214 236 N/A INTRINSIC
low complexity region 242 261 N/A INTRINSIC
ARM 300 355 2.95e0 SMART
ARM 417 468 2.22e-2 SMART
ARM 470 511 3.22e0 SMART
ARM 513 555 3.56e-1 SMART
ARM 557 602 2.1e1 SMART
ARM 607 647 1.82e-7 SMART
Blast:ARM 649 689 6e-18 BLAST
low complexity region 772 792 N/A INTRINSIC
low complexity region 817 844 N/A INTRINSIC
low complexity region 859 870 N/A INTRINSIC
low complexity region 971 980 N/A INTRINSIC
low complexity region 1057 1069 N/A INTRINSIC
low complexity region 1087 1103 N/A INTRINSIC
Pfam:APC_crr 1134 1159 4.4e-9 PFAM
low complexity region 1197 1208 N/A INTRINSIC
Pfam:APC_crr 1244 1269 4.1e-8 PFAM
Pfam:SAMP 1323 1343 2.1e-10 PFAM
Pfam:APC_crr 1369 1394 5.8e-8 PFAM
low complexity region 1500 1516 N/A INTRINSIC
Pfam:APC_crr 1540 1565 5.7e-8 PFAM
Pfam:SAMP 1594 1613 8.8e-11 PFAM
low complexity region 1673 1699 N/A INTRINSIC
Pfam:APC_basic 1757 2093 1.1e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105359
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:APC_N_CC 30 81 2.7e-34 PFAM
Pfam:Suppressor_APC 148 228 1.4e-27 PFAM
coiled coil region 238 260 N/A INTRINSIC
low complexity region 266 285 N/A INTRINSIC
ARM 324 379 2.95e0 SMART
ARM 446 497 2.22e-2 SMART
ARM 499 540 3.22e0 SMART
ARM 542 584 3.56e-1 SMART
ARM 586 631 2.1e1 SMART
ARM 636 676 1.82e-7 SMART
Blast:ARM 678 718 6e-18 BLAST
Pfam:Arm_APC_u3 719 977 1.1e-26 PFAM
low complexity region 1000 1009 N/A INTRINSIC
low complexity region 1086 1098 N/A INTRINSIC
low complexity region 1116 1132 N/A INTRINSIC
Pfam:APC_crr 1164 1187 9.3e-8 PFAM
low complexity region 1226 1237 N/A INTRINSIC
Pfam:APC_crr 1274 1297 7.9e-10 PFAM
Pfam:APC_crr 1399 1423 1.3e-9 PFAM
low complexity region 1529 1545 N/A INTRINSIC
low complexity region 1585 1603 N/A INTRINSIC
Pfam:SAMP 1624 1642 1.3e-11 PFAM
low complexity region 1702 1728 N/A INTRINSIC
Pfam:APC_basic 1786 2122 1.3e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128653
SMART Domains Protein: ENSMUSP00000137809
Gene: ENSMUSG00000020131

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SCOP:d1kn6a_ 31 102 8e-29 SMART
Pfam:Peptidase_S8 150 242 6.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137177
Predicted Effect probably benign
Transcript: ENSMUST00000135071
SMART Domains Protein: ENSMUSP00000137719
Gene: ENSMUSG00000020131

DomainStartEndE-ValueType
SCOP:d1kn6a_ 14 85 3e-27 SMART
Pfam:Peptidase_S8 133 187 1.7e-7 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik G T 5: 146,121,691 (GRCm39) Y69* probably null Het
A2ml1 A C 6: 128,520,262 (GRCm39) D1367E probably damaging Het
Adam6a C G 12: 113,508,334 (GRCm39) L236V probably benign Het
Arf3 T C 15: 98,638,954 (GRCm39) N101S probably benign Het
Arhgap42 T C 9: 9,180,051 (GRCm39) E76G probably damaging Het
Atp2a1 A G 7: 126,052,573 (GRCm39) F382S probably damaging Het
Bud13 T A 9: 46,199,705 (GRCm39) F355L probably benign Het
C2 G A 17: 35,083,508 (GRCm39) P349S probably damaging Het
Cbl C A 9: 44,075,526 (GRCm39) G373V probably damaging Het
Ccdc3 T A 2: 5,142,896 (GRCm39) L51Q probably damaging Het
Ccdc34 T A 2: 109,874,601 (GRCm39) M320K probably benign Het
Cntln A G 4: 85,015,000 (GRCm39) E1097G probably damaging Het
Ctsc A C 7: 87,948,750 (GRCm39) K195Q possibly damaging Het
Ctsf C T 19: 4,906,562 (GRCm39) P163L probably benign Het
Dcxr A T 11: 120,616,438 (GRCm39) probably null Het
Dgki T C 6: 37,126,509 (GRCm39) E157G possibly damaging Het
Dnah8 T C 17: 30,903,160 (GRCm39) L933P probably damaging Het
Dtna T C 18: 23,702,697 (GRCm39) L76P probably damaging Het
Fcgbp T A 7: 27,784,515 (GRCm39) C192S probably benign Het
Galnt5 T A 2: 57,916,137 (GRCm39) D683E probably benign Het
Greb1l G A 18: 10,542,143 (GRCm39) A1297T probably benign Het
Grik4 T C 9: 42,540,322 (GRCm39) N286S probably benign Het
Hrc A T 7: 44,986,202 (GRCm39) E451V probably damaging Het
Hrh3 G A 2: 179,741,577 (GRCm39) probably benign Het
Ints13 A G 6: 146,455,695 (GRCm39) I152T probably damaging Het
Irgm1 A T 11: 48,757,259 (GRCm39) V184D probably damaging Het
Itga5 C T 15: 103,258,826 (GRCm39) A791T probably damaging Het
Kcp T C 6: 29,505,654 (GRCm39) T73A probably benign Het
Kidins220 A G 12: 25,053,008 (GRCm39) T433A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Kmt2d T C 15: 98,764,567 (GRCm39) D12G probably damaging Het
Mms19 A G 19: 41,954,698 (GRCm39) S74P probably damaging Het
Myh1 G T 11: 67,102,300 (GRCm39) E864* probably null Het
Nek1 A G 8: 61,469,264 (GRCm39) D107G probably damaging Het
Npc1 T C 18: 12,327,149 (GRCm39) N1149D probably damaging Het
Or14j6 T A 17: 38,214,661 (GRCm39) S75T probably damaging Het
Or3a1b C A 11: 74,012,257 (GRCm39) S47R probably damaging Het
Or4k36 T C 2: 111,146,343 (GRCm39) V173A probably benign Het
Or5p79 A C 7: 108,221,817 (GRCm39) K266T possibly damaging Het
Osbp T C 19: 11,948,142 (GRCm39) S150P probably damaging Het
Paf1 T C 7: 28,096,247 (GRCm39) Y287H probably damaging Het
Pdgfrb T C 18: 61,201,174 (GRCm39) V420A probably benign Het
Pdss1 G T 2: 22,796,846 (GRCm39) E120* probably null Het
Pink1 A T 4: 138,044,630 (GRCm39) V339E probably damaging Het
Pkn3 C T 2: 29,969,663 (GRCm39) R58C probably damaging Het
Pm20d1 G A 1: 131,730,165 (GRCm39) V235I probably benign Het
Ppp2r2a A G 14: 67,276,412 (GRCm39) I31T probably damaging Het
Rbms3 T C 9: 116,651,894 (GRCm39) E152G probably damaging Het
Rfx1 A C 8: 84,821,677 (GRCm39) Q804H probably damaging Het
Rpe G T 1: 66,754,356 (GRCm39) V143L probably benign Het
Sap30l G T 11: 57,700,771 (GRCm39) V142L probably benign Het
Sh3tc1 T C 5: 35,863,268 (GRCm39) Q973R probably benign Het
Slc10a2 T C 8: 5,154,856 (GRCm39) T110A probably damaging Het
Snrnp200 A T 2: 127,060,947 (GRCm39) probably null Het
Snrnp200 G A 2: 127,060,948 (GRCm39) probably null Het
Spaca3 T A 11: 80,758,511 (GRCm39) V158E probably damaging Het
Sprtn C A 8: 125,629,770 (GRCm39) N354K probably benign Het
Stab1 T A 14: 30,863,101 (GRCm39) Y2166F possibly damaging Het
Tmem106c G A 15: 97,866,548 (GRCm39) probably null Het
Tnc A G 4: 63,918,168 (GRCm39) S1248P probably damaging Het
Tshr T C 12: 91,504,090 (GRCm39) F343L probably benign Het
Ttn C A 2: 76,555,698 (GRCm39) A30436S probably damaging Het
Ubxn2a A T 12: 4,935,839 (GRCm39) M68K probably benign Het
Ucp2 T C 7: 100,148,021 (GRCm39) V238A probably damaging Het
Urgcp C A 11: 5,667,242 (GRCm39) L365F probably damaging Het
Vezt A T 10: 93,826,026 (GRCm39) D328E probably damaging Het
Vmn1r168 G T 7: 23,240,184 (GRCm39) V14L probably benign Het
Vps13b T C 15: 35,792,205 (GRCm39) F2158L probably benign Het
Other mutations in 2310011J03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3818:2310011J03Rik UTSW 10 80,155,351 (GRCm39) missense probably damaging 0.97
R8157:2310011J03Rik UTSW 10 80,155,361 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTTGGCAGCACTTTCAAC -3'
(R):5'- GTGTTCCAAGAGCAAACTGG -3'

Sequencing Primer
(F):5'- GTCCTGGAACTCAGTCTGTAGAC -3'
(R):5'- TCGAGCCAAACTCCGAGGTTC -3'
Posted On 2014-06-23