Incidental Mutation 'R5739:A930011G23Rik'
ID 444680
Institutional Source Beutler Lab
Gene Symbol A930011G23Rik
Ensembl Gene ENSMUSG00000089809
Gene Name RIKEN cDNA A930011G23 gene
Synonyms
MMRRC Submission 043351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R5739 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 99445103-99876919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99369289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 529 (L529P)
Ref Sequence ENSEMBL: ENSMUSP00000147997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031276] [ENSMUST00000166484] [ENSMUST00000168092] [ENSMUST00000209346]
AlphaFold Q8JZL7
Predicted Effect probably damaging
Transcript: ENSMUST00000031276
AA Change: L443P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: L443P

DomainStartEndE-ValueType
RasGEFN 33 157 5.22e-4 SMART
RasGEF 201 454 3.26e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166484
AA Change: L401P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: L401P

DomainStartEndE-ValueType
Blast:RasGEFN 33 123 6e-50 BLAST
RasGEF 159 412 3.26e-68 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168092
AA Change: L442P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: L442P

DomainStartEndE-ValueType
RasGEFN 33 157 2.8e-4 SMART
RasGEF 200 453 3.26e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209346
AA Change: L529P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.8174 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (82/82)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,220,717 (GRCm39) S50T probably benign Het
Acer2 A T 4: 86,818,792 (GRCm39) N147Y probably damaging Het
Adamtsl1 A G 4: 86,150,901 (GRCm39) E353G probably damaging Het
Alg6 T C 4: 99,632,737 (GRCm39) F60L probably benign Het
Ano6 A T 15: 95,811,260 (GRCm39) D120V probably damaging Het
Armc3 A G 2: 19,258,728 (GRCm39) D265G possibly damaging Het
Aurkc A T 7: 7,005,859 (GRCm39) Y249F probably benign Het
Bmal1 G A 7: 112,884,238 (GRCm39) R92Q probably damaging Het
Cacna2d2 A G 9: 107,389,528 (GRCm39) I274V probably benign Het
Camk2n2 C A 16: 20,439,830 (GRCm39) G39C probably damaging Het
Ccdc39 A G 3: 33,880,710 (GRCm39) L419P possibly damaging Het
Cdh23 T C 10: 60,141,388 (GRCm39) M3117V probably damaging Het
Celsr3 A G 9: 108,704,357 (GRCm39) E280G probably benign Het
Cherp TGCTGGTGGTGGGG TG 8: 73,221,659 (GRCm39) probably benign Het
Clcn6 A G 4: 148,098,646 (GRCm39) V494A probably damaging Het
Col19a1 C T 1: 24,376,996 (GRCm39) G450S probably damaging Het
Crb2 T G 2: 37,683,666 (GRCm39) V1056G probably damaging Het
Crtac1 A G 19: 42,290,612 (GRCm39) F363S probably damaging Het
Dipk2a A T 9: 94,402,594 (GRCm39) V356E possibly damaging Het
Dnaaf2 T C 12: 69,243,715 (GRCm39) S449G probably benign Het
Dnah7b A T 1: 46,273,152 (GRCm39) I2427F probably damaging Het
Dnah8 T A 17: 30,937,981 (GRCm39) D1619E probably benign Het
Dock3 A T 9: 106,850,995 (GRCm39) S836T possibly damaging Het
Donson A T 16: 91,478,117 (GRCm39) probably null Het
Drc3 G A 11: 60,265,956 (GRCm39) R215H possibly damaging Het
Entpd2 T C 2: 25,289,504 (GRCm39) S329P possibly damaging Het
Eya2 T C 2: 165,603,857 (GRCm39) S332P probably damaging Het
Fam83f T A 15: 80,576,206 (GRCm39) Y286N probably damaging Het
Fat4 T C 3: 39,037,283 (GRCm39) V3645A probably benign Het
G2e3 T C 12: 51,419,287 (GRCm39) F668L possibly damaging Het
Gm14403 T A 2: 177,201,040 (GRCm39) C329S probably damaging Het
Hmcn1 G A 1: 150,684,448 (GRCm39) T374I probably benign Het
Hmcn1 A T 1: 150,634,225 (GRCm39) probably null Het
Hrnr T C 3: 93,230,436 (GRCm39) S225P unknown Het
Ifi202b C T 1: 173,798,918 (GRCm39) probably null Het
Il10ra A T 9: 45,167,368 (GRCm39) D394E possibly damaging Het
Itga2b A T 11: 102,356,735 (GRCm39) D275E probably benign Het
Jaml A T 9: 45,000,026 (GRCm39) D108V probably damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrrtm1 T C 6: 77,221,872 (GRCm39) V443A probably damaging Het
Mkln1 T A 6: 31,473,637 (GRCm39) S126R probably benign Het
Myo19 T C 11: 84,788,450 (GRCm39) I354T probably damaging Het
Nucb1 A T 7: 45,151,084 (GRCm39) L99Q probably damaging Het
Or4f59 A G 2: 111,873,128 (GRCm39) F83S probably damaging Het
Pask A G 1: 93,249,778 (GRCm39) S541P probably benign Het
Pdpr A T 8: 111,861,252 (GRCm39) I749F possibly damaging Het
Pgap6 T A 17: 26,339,425 (GRCm39) F580I probably damaging Het
Phyhipl T C 10: 70,395,399 (GRCm39) D269G possibly damaging Het
Pkdcc A G 17: 83,523,223 (GRCm39) D110G probably benign Het
Ppox A G 1: 171,107,570 (GRCm39) L115P probably damaging Het
Ppp1r12c A G 7: 4,500,281 (GRCm39) L94P probably damaging Het
Ppp6r2 T A 15: 89,143,276 (GRCm39) M141K probably benign Het
Prl3d1 A T 13: 27,283,995 (GRCm39) H188L probably benign Het
Psmb3 T A 11: 97,604,296 (GRCm39) probably benign Het
Pxdn T A 12: 30,032,333 (GRCm39) S150T probably benign Het
Ripor3 T C 2: 167,823,203 (GRCm39) T903A probably damaging Het
Rnase4 T C 14: 51,342,306 (GRCm39) L10S probably benign Het
Rnf224 T C 2: 25,126,012 (GRCm39) T114A probably benign Het
Rp1l1 A T 14: 64,269,619 (GRCm39) E1735V probably benign Het
Rrp1b T A 17: 32,264,950 (GRCm39) Y60N probably damaging Het
Rsbn1l A T 5: 21,110,814 (GRCm39) V508E probably damaging Het
Rubcnl T C 14: 75,278,381 (GRCm39) probably null Het
Rxfp4 A G 3: 88,559,209 (GRCm39) probably benign Het
Sdccag8 A G 1: 176,653,797 (GRCm39) T85A probably benign Het
Slc46a1 A T 11: 78,357,975 (GRCm39) I343F possibly damaging Het
Ssh2 A G 11: 77,340,639 (GRCm39) D597G probably damaging Het
Syne2 T A 12: 76,044,239 (GRCm39) V3942E possibly damaging Het
Timd4 T C 11: 46,708,573 (GRCm39) S200P probably benign Het
Tmc5 G A 7: 118,265,834 (GRCm39) probably null Het
Trbv16 A G 6: 41,129,013 (GRCm39) T66A probably benign Het
Ttc3 A T 16: 94,240,183 (GRCm39) K1103* probably null Het
Ttc7b A G 12: 100,350,492 (GRCm39) V458A probably damaging Het
Ubxn10 A G 4: 138,448,134 (GRCm39) S181P probably benign Het
Vmn2r11 A G 5: 109,207,114 (GRCm39) probably null Het
Vmn2r26 A T 6: 124,002,925 (GRCm39) N112Y probably benign Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zc3h10 T C 10: 128,380,670 (GRCm39) N229S probably benign Het
Zfp407 T C 18: 84,226,867 (GRCm39) *2247W probably null Het
Zfyve1 C A 12: 83,621,910 (GRCm39) V162L possibly 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
R2184:A930011G23Rik UTSW 5 99,380,228 (GRCm39) missense possibly damaging 0.69
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
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'- TGGGGCCTTCCTACAACAAG -3'
(R):5'- AATATAAATCTGAGTGTGCGGCGG -3'

Sequencing Primer
(F):5'- GGCACGCATATGGCTTTCCTG -3'
(R):5'- ATTAAGGGCCTTCTCAGCTCAGAG -3'
Posted On 2016-11-21