Incidental Mutation 'R2184:A930011G23Rik'
ID 237339
Institutional Source Beutler Lab
Gene Symbol A930011G23Rik
Ensembl Gene ENSMUSG00000089809
Gene Name RIKEN cDNA A930011G23 gene
Synonyms
MMRRC Submission 040186-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R2184 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 99445103-99876919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99380228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 339 (R339Q)
Ref Sequence ENSEMBL: ENSMUSP00000147997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031276] [ENSMUST00000166484] [ENSMUST00000168092] [ENSMUST00000209346]
AlphaFold Q8JZL7
Predicted Effect probably benign
Transcript: ENSMUST00000031276
AA Change: R253Q

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: R253Q

DomainStartEndE-ValueType
RasGEFN 33 157 5.22e-4 SMART
RasGEF 201 454 3.26e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166484
AA Change: R211Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: R211Q

DomainStartEndE-ValueType
Blast:RasGEFN 33 123 6e-50 BLAST
RasGEF 159 412 3.26e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166632
Predicted Effect probably benign
Transcript: ENSMUST00000168092
AA Change: R252Q

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: R252Q

DomainStartEndE-ValueType
RasGEFN 33 157 2.8e-4 SMART
RasGEF 200 453 3.26e-68 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000209346
AA Change: R339Q

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,389 (GRCm39) R184G probably damaging Het
2300002M23Rik C A 17: 35,879,115 (GRCm39) A151E probably benign Het
Abcd2 T C 15: 91,075,642 (GRCm39) Y57C probably benign Het
Adprhl1 A G 8: 13,292,559 (GRCm39) V244A probably benign Het
Agl T C 3: 116,574,426 (GRCm39) N753D probably benign Het
Amotl1 T A 9: 14,486,686 (GRCm39) M440L probably benign Het
Angpt2 A G 8: 18,742,132 (GRCm39) Y475H probably benign Het
Angpt4 A T 2: 151,780,874 (GRCm39) H374L probably damaging Het
Ank1 A T 8: 23,599,270 (GRCm39) T801S probably damaging Het
Ap5m1 G T 14: 49,323,752 (GRCm39) A481S probably damaging Het
AY358078 G T 14: 52,063,445 (GRCm39) G364W probably damaging Het
C4b C A 17: 34,956,676 (GRCm39) A641S probably benign Het
Capn13 T C 17: 73,672,943 (GRCm39) Y120C probably damaging Het
Cbx6 T C 15: 79,712,762 (GRCm39) T222A probably benign Het
Cckar T C 5: 53,860,254 (GRCm39) T192A probably damaging Het
Cdc42bpb T C 12: 111,262,478 (GRCm39) D30G probably damaging Het
Cdk18 A G 1: 132,043,690 (GRCm39) Y385H probably damaging Het
Cep170 A T 1: 176,584,542 (GRCm39) D612E probably benign Het
Dennd4b G T 3: 90,182,847 (GRCm39) R888L probably damaging Het
Egf A T 3: 129,517,007 (GRCm39) C373* probably null Het
Gabrb2 T C 11: 42,312,255 (GRCm39) probably null Het
Gle1 G T 2: 29,839,030 (GRCm39) A482S probably damaging Het
Gm10644 T C 8: 84,660,256 (GRCm39) T30A possibly damaging Het
Gmnn A G 13: 24,937,706 (GRCm39) Y95H probably damaging Het
Hectd3 T A 4: 116,858,100 (GRCm39) S643T possibly damaging Het
Hoga1 A G 19: 42,049,830 (GRCm39) Y225C probably damaging Het
Hook3 T C 8: 26,609,011 (GRCm39) E11G probably benign Het
Hsd17b1 C A 11: 100,969,357 (GRCm39) S30R probably benign Het
Htr3b G A 9: 48,858,544 (GRCm39) P112S probably damaging Het
Iqch T A 9: 63,432,351 (GRCm39) D348V probably damaging Het
Irgm2 A T 11: 58,111,254 (GRCm39) N327I probably benign Het
Itgb4 T C 11: 115,870,450 (GRCm39) I93T probably damaging Het
Lamb2 T C 9: 108,357,752 (GRCm39) F92L probably damaging Het
Lats2 T C 14: 57,929,016 (GRCm39) H953R probably damaging Het
Lrp1b T C 2: 40,620,714 (GRCm39) E3588G probably benign Het
Marchf1 A G 8: 66,840,075 (GRCm39) E286G probably benign Het
Mc2r G T 18: 68,541,196 (GRCm39) F32L probably benign Het
Mink1 C T 11: 70,494,623 (GRCm39) T268M probably damaging Het
Mta1 G A 12: 113,093,815 (GRCm39) probably null Het
Muc5b C A 7: 141,412,601 (GRCm39) S1849* probably null Het
Myh15 A G 16: 48,957,874 (GRCm39) E897G probably damaging Het
Nobox T C 6: 43,281,819 (GRCm39) Q418R possibly damaging Het
Obsl1 G T 1: 75,478,861 (GRCm39) Q626K probably benign Het
Or11h4 A G 14: 50,974,059 (GRCm39) S187P probably damaging Het
Or13a24 T C 7: 140,154,315 (GRCm39) V83A probably benign Het
Or1j12 A G 2: 36,343,046 (GRCm39) T150A probably benign Het
Or2w25 T A 11: 59,503,964 (GRCm39) M58K probably damaging Het
Or5w14 G A 2: 87,541,549 (GRCm39) R234C probably damaging Het
Or8k24 G A 2: 86,216,489 (GRCm39) T91I probably benign Het
Or9i1 A G 19: 13,839,399 (GRCm39) I81V probably benign Het
Pald1 C T 10: 61,182,915 (GRCm39) A345T possibly damaging Het
Pde8b G A 13: 95,162,723 (GRCm39) P800S probably damaging Het
Pgm2l1 G A 7: 99,917,362 (GRCm39) C493Y possibly damaging Het
Pias3 A G 3: 96,609,537 (GRCm39) S311G possibly damaging Het
Pkhd1l1 A G 15: 44,362,692 (GRCm39) N573D possibly damaging Het
Plaat3 A G 19: 7,556,583 (GRCm39) D128G probably damaging Het
Plxnc1 T G 10: 94,780,131 (GRCm39) S104R probably damaging Het
Pofut2 T A 10: 77,103,059 (GRCm39) F179I probably damaging Het
Prkcsh T A 9: 21,916,028 (GRCm39) C112S probably damaging Het
Prss32 G A 17: 24,078,297 (GRCm39) A328T probably benign Het
Ptgir G T 7: 16,642,708 (GRCm39) R103L probably damaging Het
Ptpn5 G A 7: 46,738,350 (GRCm39) S244F probably damaging Het
Rnpepl1 G A 1: 92,844,545 (GRCm39) V346I probably benign Het
Sh3rf1 T A 8: 61,825,688 (GRCm39) V561D probably damaging Het
Slc22a19 A T 19: 7,687,026 (GRCm39) Y160N probably benign Het
Sorbs3 A G 14: 70,428,880 (GRCm39) probably null Het
Sostdc1 T G 12: 36,367,295 (GRCm39) I157S probably damaging Het
Svil G T 18: 5,099,534 (GRCm39) R1777L probably damaging Het
Svil A T 18: 5,099,615 (GRCm39) E1804V probably damaging Het
Tasor T A 14: 27,188,141 (GRCm39) N862K possibly damaging Het
Thbs4 A G 13: 92,911,302 (GRCm39) S294P probably benign Het
Tle2 A G 10: 81,426,111 (GRCm39) Y750C probably damaging Het
Tmcc3 T C 10: 94,418,168 (GRCm39) L312P probably damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Tnpo2 T A 8: 85,780,475 (GRCm39) M734K probably benign Het
Trmt2a A T 16: 18,070,859 (GRCm39) R531W probably benign Het
Ubn2 C T 6: 38,461,029 (GRCm39) R483W probably damaging Het
Zc3hav1 T A 6: 38,284,343 (GRCm39) Y924F probably damaging Het
Other mutations in A930011G23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:A930011G23Rik APN 5 99,391,102 (GRCm39) splice site probably null
IGL00536:A930011G23Rik APN 5 99,370,242 (GRCm39) missense probably damaging 1.00
IGL00848:A930011G23Rik APN 5 99,370,237 (GRCm39) missense probably damaging 1.00
IGL01400:A930011G23Rik APN 5 99,390,960 (GRCm39) missense probably damaging 1.00
IGL02421:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02421:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02422:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02422:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02423:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02423:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02424:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02424:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02427:A930011G23Rik APN 5 99,381,829 (GRCm39) missense probably damaging 1.00
IGL02437:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02437:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02473:A930011G23Rik APN 5 99,370,854 (GRCm39) missense probably damaging 1.00
IGL02498:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02498:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02499:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02499:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02537:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02537:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02609:A930011G23Rik APN 5 99,381,854 (GRCm39) splice site probably benign
IGL02735:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02735:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02975:A930011G23Rik APN 5 99,381,784 (GRCm39) missense possibly damaging 0.81
IGL03129:A930011G23Rik APN 5 99,377,238 (GRCm39) missense probably damaging 0.98
IGL03139:A930011G23Rik APN 5 99,391,067 (GRCm39) missense probably benign 0.00
IGL03239:A930011G23Rik APN 5 99,381,835 (GRCm39) missense probably damaging 1.00
IGL03295:A930011G23Rik APN 5 99,390,915 (GRCm39) splice site probably benign
R0011:A930011G23Rik UTSW 5 99,380,213 (GRCm39) missense probably damaging 1.00
R0738:A930011G23Rik UTSW 5 99,388,812 (GRCm39) missense probably benign 0.08
R0840:A930011G23Rik UTSW 5 99,382,547 (GRCm39) missense probably benign 0.00
R1779:A930011G23Rik UTSW 5 99,370,897 (GRCm39) splice site probably benign
R1799:A930011G23Rik UTSW 5 99,382,435 (GRCm39) missense probably benign 0.01
R1992:A930011G23Rik UTSW 5 99,381,784 (GRCm39) missense possibly damaging 0.81
R2054:A930011G23Rik UTSW 5 99,375,914 (GRCm39) missense probably benign 0.01
R2157:A930011G23Rik UTSW 5 99,379,956 (GRCm39) missense probably damaging 0.99
R4565:A930011G23Rik UTSW 5 99,375,806 (GRCm39) intron probably benign
R4930:A930011G23Rik UTSW 5 99,370,263 (GRCm39) missense possibly damaging 0.81
R5065:A930011G23Rik UTSW 5 99,382,432 (GRCm39) missense probably benign 0.18
R5739:A930011G23Rik UTSW 5 99,369,289 (GRCm39) missense probably damaging 1.00
R5806:A930011G23Rik UTSW 5 99,388,731 (GRCm39) missense probably benign 0.05
R8228:A930011G23Rik UTSW 5 99,524,980 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AATACTCGATCATCCTCGCTCG -3'
(R):5'- AGACCCTTCTTTGGAAGTGAG -3'

Sequencing Primer
(F):5'- CTTCTTCACAGGCTGTAAGAAAAACG -3'
(R):5'- TGAGGGTCTGAGGGCAC -3'
Posted On 2014-10-02