Incidental Mutation 'R5658:4930522H14Rik'
ID 443921
Institutional Source Beutler Lab
Gene Symbol 4930522H14Rik
Ensembl Gene ENSMUSG00000060491
Gene Name RIKEN cDNA 4930522H14 gene
Synonyms
MMRRC Submission 043172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5658 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 109362534-109388494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109362644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 221 (L221P)
Ref Sequence ENSEMBL: ENSMUSP00000080923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082306] [ENSMUST00000102725]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082306
AA Change: L221P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080923
Gene: ENSMUSG00000060491
AA Change: L221P

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
low complexity region 84 95 N/A INTRINSIC
low complexity region 124 138 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102725
AA Change: L225P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099786
Gene: ENSMUSG00000060491
AA Change: L225P

DomainStartEndE-ValueType
Pfam:DUF4718 6 190 2.1e-105 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A G 7: 101,229,569 (GRCm39) V110A probably damaging Het
Bccip A G 7: 133,319,349 (GRCm39) I147V possibly damaging Het
Bcl9l G T 9: 44,420,466 (GRCm39) G1254W probably damaging Het
Cep68 C T 11: 20,191,885 (GRCm39) probably null Het
Chst5 A G 8: 112,617,422 (GRCm39) V66A probably damaging Het
F5 C A 1: 164,019,907 (GRCm39) T794K probably damaging Het
Faf2 T C 13: 54,789,347 (GRCm39) V55A probably benign Het
Gm7535 T A 17: 18,131,582 (GRCm39) probably benign Het
Itpr3 T C 17: 27,326,852 (GRCm39) V1471A possibly damaging Het
Kbtbd4 T A 2: 90,736,423 (GRCm39) S145T probably benign Het
Kcnh3 C T 15: 99,139,957 (GRCm39) P948S possibly damaging Het
Kcnq1 G A 7: 142,917,432 (GRCm39) probably null Het
Kng2 T C 16: 22,815,770 (GRCm39) probably null Het
Krt9 A G 11: 100,081,593 (GRCm39) I312T probably damaging Het
Lactb2 T A 1: 13,697,642 (GRCm39) H254L probably benign Het
Lama5 A T 2: 179,850,069 (GRCm39) Y187* probably null Het
Ldc1 A G 4: 130,114,234 (GRCm39) V61A probably benign Het
Maf1 T C 15: 76,237,420 (GRCm39) V154A possibly damaging Het
Mlh1 A G 9: 111,076,448 (GRCm39) V303A probably damaging Het
Mrgprh A T 17: 13,096,646 (GRCm39) K295N possibly damaging Het
Mtrr G T 13: 68,717,034 (GRCm39) A393D possibly damaging Het
Myef2l C T 3: 10,153,837 (GRCm39) S202F probably damaging Het
Nebl A G 2: 17,353,663 (GRCm39) Y963H probably damaging Het
Ormdl1 T C 1: 53,348,093 (GRCm39) V145A probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Pmpcb A G 5: 21,943,999 (GRCm39) T78A probably damaging Het
Ptprz1 G A 6: 23,016,188 (GRCm39) R1677Q probably damaging Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,631,191 (GRCm39) probably benign Het
Ryr1 A T 7: 28,790,514 (GRCm39) probably null Het
Sh3bp2 T A 5: 34,714,291 (GRCm39) I162N probably damaging Het
Slc38a10 C T 11: 119,996,218 (GRCm39) A960T probably benign Het
Sntb1 C T 15: 55,655,472 (GRCm39) C248Y probably damaging Het
Sowahc G A 10: 59,059,049 (GRCm39) R395H possibly damaging Het
Tbc1d5 T C 17: 51,120,869 (GRCm39) R416G probably benign Het
Tnfaip6 A T 2: 51,941,047 (GRCm39) Y196F possibly damaging Het
Tpo A G 12: 30,105,137 (GRCm39) L911P possibly damaging Het
Try5 T C 6: 41,289,361 (GRCm39) R72G probably damaging Het
Vwa8 T C 14: 79,219,838 (GRCm39) probably null Het
Other mutations in 4930522H14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0363:4930522H14Rik UTSW 4 109,381,520 (GRCm39) missense probably null
R1460:4930522H14Rik UTSW 4 109,388,407 (GRCm39) critical splice donor site probably null
R1489:4930522H14Rik UTSW 4 109,362,654 (GRCm39) missense possibly damaging 0.57
R1647:4930522H14Rik UTSW 4 109,362,768 (GRCm39) missense probably damaging 0.97
R5481:4930522H14Rik UTSW 4 109,362,759 (GRCm39) missense probably damaging 0.97
R6559:4930522H14Rik UTSW 4 109,363,002 (GRCm39) missense possibly damaging 0.70
R7387:4930522H14Rik UTSW 4 109,362,774 (GRCm39) missense probably damaging 0.99
R7838:4930522H14Rik UTSW 4 109,362,776 (GRCm39) missense probably damaging 0.99
R8193:4930522H14Rik UTSW 4 109,381,529 (GRCm39) missense probably benign
R9731:4930522H14Rik UTSW 4 109,362,918 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATTGAGCCCGCCAATAGGAG -3'
(R):5'- AAAGAATCCTTTACTCGGGGAGC -3'

Sequencing Primer
(F):5'- CATTGTGTTGGGAATCACACAGAC -3'
(R):5'- ATTAGAAGAGTGGCCTGGG -3'
Posted On 2016-11-09