Incidental Mutation 'R4460:Snx30'
ID 330095
Institutional Source Beutler Lab
Gene Symbol Snx30
Ensembl Gene ENSMUSG00000028385
Gene Name sorting nexin family member 30
Synonyms 4732481H14Rik, C030041J06Rik
MMRRC Submission 041719-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.551) question?
Stock # R4460 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 59805840-59904737 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 59885022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 221 (R221*)
Ref Sequence ENSEMBL: ENSMUSP00000030080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030080]
AlphaFold Q8CE50
Predicted Effect probably null
Transcript: ENSMUST00000030080
AA Change: R221*
SMART Domains Protein: ENSMUSP00000030080
Gene: ENSMUSG00000028385
AA Change: R221*

DomainStartEndE-ValueType
low complexity region 59 73 N/A INTRINSIC
PX 88 206 2.21e-18 SMART
Pfam:BAR 264 432 4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145199
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btbd8 A G 5: 107,651,631 (GRCm39) T687A possibly damaging Het
C030048H21Rik A G 2: 26,145,875 (GRCm39) probably null Het
Cav1 A G 6: 17,306,471 (GRCm39) D8G probably damaging Het
Celf6 G A 9: 59,510,327 (GRCm39) R103H probably damaging Het
Ctr9 A G 7: 110,646,101 (GRCm39) I698V probably benign Het
Cts6 G C 13: 61,343,272 (GRCm39) I316M probably benign Het
Dnajc13 C A 9: 104,058,262 (GRCm39) R1496L probably damaging Het
Dscam A G 16: 96,411,519 (GRCm39) Y1786H probably damaging Het
Fcgbpl1 C T 7: 27,852,281 (GRCm39) T1268I probably benign Het
Itga2 C G 13: 114,980,019 (GRCm39) D1061H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Ltk A G 2: 119,586,094 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mmp9 G T 2: 164,790,958 (GRCm39) K115N probably damaging Het
Mroh5 A T 15: 73,663,645 (GRCm39) D339E probably damaging Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Mx1 G T 16: 97,255,281 (GRCm39) S113R probably damaging Het
Nlrp9c T A 7: 26,077,523 (GRCm39) H698L probably damaging Het
Nol9 T G 4: 152,142,293 (GRCm39) L641R probably damaging Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Pou2f1 A G 1: 165,722,575 (GRCm39) F337L probably damaging Het
Prkn A T 17: 12,280,533 (GRCm39) D463V probably damaging Het
Ptcd1 G T 5: 145,096,316 (GRCm39) A259E probably benign Het
Ptov1 T C 7: 44,515,000 (GRCm39) M204V probably benign Het
Rasal2 A G 1: 157,003,402 (GRCm39) F419S possibly damaging Het
Rbbp8nl A G 2: 179,922,764 (GRCm39) S210P probably benign Het
Rgmb C A 17: 16,027,888 (GRCm39) R277L probably benign Het
Snx2 A G 18: 53,309,516 (GRCm39) E22G probably benign Het
Tmem143 C T 7: 45,556,376 (GRCm39) T97I probably damaging Het
Ttn A C 2: 76,644,991 (GRCm39) F12955V probably damaging Het
Ubr2 C T 17: 47,255,971 (GRCm39) probably null Het
Vmn1r203 T A 13: 22,708,852 (GRCm39) M211K probably damaging Het
Vmn2r121 G A X: 123,038,281 (GRCm39) P580S probably benign Het
Zfp804b A T 5: 6,821,481 (GRCm39) D491E probably damaging Het
Other mutations in Snx30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Snx30 APN 4 59,886,404 (GRCm39) splice site probably benign
IGL01397:Snx30 APN 4 59,894,526 (GRCm39) missense probably benign 0.29
IGL03189:Snx30 APN 4 59,857,452 (GRCm39) missense probably benign 0.01
PIT4366001:Snx30 UTSW 4 59,894,653 (GRCm39) missense probably benign 0.45
R1274:Snx30 UTSW 4 59,885,133 (GRCm39) missense probably benign 0.16
R1415:Snx30 UTSW 4 59,879,261 (GRCm39) missense probably damaging 1.00
R2240:Snx30 UTSW 4 59,886,515 (GRCm39) missense probably damaging 1.00
R4459:Snx30 UTSW 4 59,885,022 (GRCm39) nonsense probably null
R5279:Snx30 UTSW 4 59,885,070 (GRCm39) missense probably benign
R5394:Snx30 UTSW 4 59,879,329 (GRCm39) missense probably benign
R5754:Snx30 UTSW 4 59,868,275 (GRCm39) missense probably damaging 0.99
R7502:Snx30 UTSW 4 59,894,567 (GRCm39) missense possibly damaging 0.50
R7666:Snx30 UTSW 4 59,885,047 (GRCm39) missense probably benign 0.30
R8968:Snx30 UTSW 4 59,886,517 (GRCm39) missense possibly damaging 0.81
R9515:Snx30 UTSW 4 59,879,241 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACAGGATGAGAGTTCCCAC -3'
(R):5'- AAATGAACGCCATTCCTGCC -3'

Sequencing Primer
(F):5'- ACAGTGGGGCTACGATGTGTAC -3'
(R):5'- ATTCCTGCCACTCTGGGCAC -3'
Posted On 2015-07-21