Incidental Mutation 'R0245:2310022B05Rik'
ID 36176
Institutional Source Beutler Lab
Gene Symbol 2310022B05Rik
Ensembl Gene ENSMUSG00000031983
Gene Name RIKEN cDNA 2310022B05 gene
Synonyms
MMRRC Submission 038483-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0245 (G1)
Quality Score 213
Status Validated
Chromosome 8
Chromosomal Location 125362495-125390108 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 125378168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034464]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034464
SMART Domains Protein: ENSMUSP00000034464
Gene: ENSMUSG00000031983

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
Pfam:DUF4706 31 135 4.1e-45 PFAM
low complexity region 271 286 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap T A 7: 26,900,028 (GRCm39) C98S possibly damaging Het
Adgrg6 T A 10: 14,333,810 (GRCm39) probably benign Het
Adra2a G C 19: 54,035,840 (GRCm39) V399L probably damaging Het
Arpc1b A G 5: 145,063,670 (GRCm39) D306G probably damaging Het
Asic3 C A 5: 24,618,836 (GRCm39) R43S probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Btbd2 A T 10: 80,483,640 (GRCm39) Y178N probably damaging Het
Cacna1c T C 6: 118,581,415 (GRCm39) N1647D probably benign Het
Cacna2d4 A T 6: 119,285,682 (GRCm39) D803V probably damaging Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Cmpk2 A T 12: 26,519,517 (GRCm39) D56V probably benign Het
Dnah7a T C 1: 53,540,685 (GRCm39) Y2563C probably damaging Het
Dock7 T C 4: 98,943,586 (GRCm39) D552G possibly damaging Het
E2f7 C A 10: 110,610,656 (GRCm39) S427* probably null Het
Eps8 T C 6: 137,456,126 (GRCm39) D785G probably benign Het
Ereg G A 5: 91,222,659 (GRCm39) C14Y possibly damaging Het
Fah A C 7: 84,244,706 (GRCm39) H222Q probably benign Het
Fbxw16 T A 9: 109,265,236 (GRCm39) S432C possibly damaging Het
Fdps A G 3: 89,001,078 (GRCm39) S334P possibly damaging Het
Fgf7 A G 2: 125,877,875 (GRCm39) K81E probably benign Het
Gfra1 T C 19: 58,288,986 (GRCm39) N153S possibly damaging Het
Golga1 A G 2: 38,925,271 (GRCm39) V351A probably benign Het
Got1 A T 19: 43,492,946 (GRCm39) probably benign Het
Greb1 T C 12: 16,746,457 (GRCm39) Y1271C probably damaging Het
Gtf3c4 A G 2: 28,724,976 (GRCm39) I252T possibly damaging Het
Gucy1a1 A G 3: 82,016,094 (GRCm39) I298T possibly damaging Het
Hivep1 A G 13: 42,317,766 (GRCm39) I2081V possibly damaging Het
Hps3 A T 3: 20,066,960 (GRCm39) C535* probably null Het
Hspg2 T C 4: 137,242,033 (GRCm39) F589S probably damaging Het
Itgb8 T A 12: 119,154,290 (GRCm39) N249I probably damaging Het
Itprid1 A G 6: 55,874,992 (GRCm39) E314G probably damaging Het
Kdm4a T C 4: 118,032,886 (GRCm39) D60G probably benign Het
Kng2 A T 16: 22,830,931 (GRCm39) probably benign Het
Marchf4 A T 1: 72,573,940 (GRCm39) D119E probably benign Het
Mrpl34 T C 8: 71,917,719 (GRCm39) probably benign Het
Ncoa6 C T 2: 155,233,131 (GRCm39) G2059D probably benign Het
Nhsl1 A G 10: 18,400,856 (GRCm39) K660R probably damaging Het
Nr2c2ap T C 8: 70,584,228 (GRCm39) V6A possibly damaging Het
Or10j3b T A 1: 173,043,524 (GRCm39) I102N possibly damaging Het
Or4c29 C A 2: 88,740,219 (GRCm39) D173Y possibly damaging Het
Or4k52 A G 2: 111,610,680 (GRCm39) N5S probably damaging Het
Or5k14 A T 16: 58,693,229 (GRCm39) Y95N probably benign Het
Or7g33 C A 9: 19,448,408 (GRCm39) V273L probably benign Het
Oscar C T 7: 3,614,573 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,610,624 (GRCm39) S1046G probably benign Het
Ptk6 T C 2: 180,844,284 (GRCm39) D5G probably benign Het
Rgs12 A G 5: 35,187,424 (GRCm39) H486R probably benign Het
Rnf111 C T 9: 70,361,113 (GRCm39) probably benign Het
Rnf17 A G 14: 56,676,066 (GRCm39) Y309C probably damaging Het
Rnf19a A T 15: 36,253,178 (GRCm39) I387N probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sdk1 A G 5: 141,940,713 (GRCm39) T494A probably benign Het
Serac1 G T 17: 6,102,031 (GRCm39) D384E probably damaging Het
Sez6l T C 5: 112,623,432 (GRCm39) M40V probably benign Het
Slc17a5 A G 9: 78,448,206 (GRCm39) I416T probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Spata32 C T 11: 103,099,921 (GRCm39) A195T probably damaging Het
Srrd A G 5: 112,485,394 (GRCm39) probably benign Het
Srsf3-ps T A 11: 98,516,067 (GRCm39) probably benign Het
Supt3 T C 17: 45,347,662 (GRCm39) V208A probably benign Het
Taok3 G A 5: 117,390,744 (GRCm39) probably benign Het
Tbxas1 G T 6: 39,004,702 (GRCm39) R316S probably benign Het
Tgfbrap1 A T 1: 43,114,752 (GRCm39) I116N possibly damaging Het
Tm7sf3 T C 6: 146,520,107 (GRCm39) T260A possibly damaging Het
Top2a T C 11: 98,900,922 (GRCm39) I556V probably benign Het
Uroc1 A G 6: 90,321,179 (GRCm39) M252V probably damaging Het
Xpo4 G T 14: 57,867,697 (GRCm39) H183Q probably damaging Het
Zcchc17 T A 4: 130,230,947 (GRCm39) I81L probably benign Het
Zfp455 A T 13: 67,355,899 (GRCm39) Y389F probably damaging Het
Other mutations in 2310022B05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:2310022B05Rik APN 8 125,366,072 (GRCm39) missense probably damaging 0.97
IGL02141:2310022B05Rik APN 8 125,364,645 (GRCm39) utr 3 prime probably benign
R2038:2310022B05Rik UTSW 8 125,389,762 (GRCm39) missense probably damaging 1.00
R2157:2310022B05Rik UTSW 8 125,378,168 (GRCm39) splice site probably benign
R4652:2310022B05Rik UTSW 8 125,366,350 (GRCm39) missense probably damaging 1.00
R4771:2310022B05Rik UTSW 8 125,366,300 (GRCm39) missense probably benign 0.01
R4867:2310022B05Rik UTSW 8 125,366,099 (GRCm39) missense probably damaging 1.00
R6018:2310022B05Rik UTSW 8 125,365,853 (GRCm39) missense probably benign 0.00
R6602:2310022B05Rik UTSW 8 125,365,993 (GRCm39) missense probably damaging 0.98
R6849:2310022B05Rik UTSW 8 125,366,261 (GRCm39) missense probably damaging 0.99
R7924:2310022B05Rik UTSW 8 125,390,051 (GRCm39) start gained probably benign
R8759:2310022B05Rik UTSW 8 125,365,916 (GRCm39) missense probably benign 0.02
R9778:2310022B05Rik UTSW 8 125,366,098 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGACATTGTGGGACTGACAGAC -3'
(R):5'- AGTGCCCATTCCATCTTCTGAAGC -3'

Sequencing Primer
(F):5'- CAGTTGTAGCCCAGCATTAAG -3'
(R):5'- TCCCTGGTGTTCACTAAGATG -3'
Posted On 2013-05-09