Incidental Mutation 'R1647:4930522H14Rik'
ID 173937
Institutional Source Beutler Lab
Gene Symbol 4930522H14Rik
Ensembl Gene ENSMUSG00000060491
Gene Name RIKEN cDNA 4930522H14 gene
Synonyms
MMRRC Submission 039683-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R1647 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 109362534-109388494 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109362768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 184 (S184P)
Ref Sequence ENSEMBL: ENSMUSP00000099786 (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: S180P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080923
Gene: ENSMUSG00000060491
AA Change: S180P

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: S184P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099786
Gene: ENSMUSG00000060491
AA Change: S184P

DomainStartEndE-ValueType
Pfam:DUF4718 6 190 2.1e-105 PFAM
Meta Mutation Damage Score 0.1034 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 97% (70/72)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Anxa10 T C 8: 62,545,618 (GRCm39) D38G probably damaging Het
Atp8b2 G A 3: 89,849,091 (GRCm39) A1081V probably benign Het
Baz1a G A 12: 55,021,983 (GRCm39) R100C probably damaging Het
Ceacam18 A C 7: 43,288,689 (GRCm39) T147P possibly damaging Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Chrm3 A T 13: 9,928,461 (GRCm39) W192R probably damaging Het
Cnn1 C A 9: 22,019,150 (GRCm39) A202E probably damaging Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Entpd7 A G 19: 43,710,184 (GRCm39) probably benign Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Etaa1 C A 11: 17,896,492 (GRCm39) G542C probably damaging Het
Exosc8 A T 3: 54,641,522 (GRCm39) probably null Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Il22ra1 C A 4: 135,477,771 (GRCm39) H281N probably damaging Het
Inpp4b G T 8: 82,583,403 (GRCm39) probably benign Het
Itga11 A G 9: 62,667,652 (GRCm39) N662D probably benign Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Lamb2 G A 9: 108,358,622 (GRCm39) probably null Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Lnx2 C A 5: 146,964,152 (GRCm39) V468L probably benign Het
Lrriq1 A T 10: 103,006,509 (GRCm39) C1205* probably null Het
Lsm4 A G 8: 71,130,456 (GRCm39) Y25C probably damaging Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Miip T C 4: 147,949,691 (GRCm39) S174G probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Msh2 C T 17: 87,980,064 (GRCm39) A14V probably benign Het
Nbea T A 3: 55,537,650 (GRCm39) I2828F probably damaging Het
Nkx2-3 A T 19: 43,602,895 (GRCm39) Q167L probably damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Pate9 A G 9: 36,445,736 (GRCm39) S72P possibly damaging Het
Phldb1 G A 9: 44,626,730 (GRCm39) P572S probably damaging Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Prr12 T A 7: 44,683,616 (GRCm39) N1683Y probably benign Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Pygl T A 12: 70,243,784 (GRCm39) I553F possibly damaging Het
Rasd1 T C 11: 59,854,920 (GRCm39) M187V probably benign Het
Rasgrf1 A G 9: 89,835,973 (GRCm39) I234V probably benign Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdhaf3 T C 6: 6,956,126 (GRCm39) Y34H probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Slc45a3 G A 1: 131,905,262 (GRCm39) G81D probably damaging Het
Spata2l T C 8: 123,960,041 (GRCm39) N416S probably benign Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tet2 A G 3: 133,191,641 (GRCm39) V931A probably benign Het
Tmem190 A G 7: 4,787,120 (GRCm39) D108G probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R probably damaging 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
R5481:4930522H14Rik UTSW 4 109,362,759 (GRCm39) missense probably damaging 0.97
R5658:4930522H14Rik UTSW 4 109,362,644 (GRCm39) missense probably damaging 0.99
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'- AACATTGAGCCCGCCAATAGGAG -3'
(R):5'- TGGCAGCAGTGTGTCAACATTGAG -3'

Sequencing Primer
(F):5'- acagacatacatggaggcaag -3'
(R):5'- AGCTTATCAACATCAATCTCTAGTTC -3'
Posted On 2014-04-24