Incidental Mutation 'R3977:B020004C17Rik'
ID 311088
Institutional Source Beutler Lab
Gene Symbol B020004C17Rik
Ensembl Gene ENSMUSG00000096144
Gene Name RIKEN cDNA B020004C17 gene
Synonyms
MMRRC Submission 040940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R3977 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 57252591-57256439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57254645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 156 (M156I)
Ref Sequence ENSEMBL: ENSMUSP00000137042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178161]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000178161
AA Change: M156I

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137042
Gene: ENSMUSG00000096144
AA Change: M156I

DomainStartEndE-ValueType
low complexity region 70 83 N/A INTRINSIC
low complexity region 221 231 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225045
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace C T 11: 105,872,664 (GRCm39) P942L possibly damaging Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Bicral T A 17: 47,141,917 (GRCm39) M1L unknown Het
Brpf3 A G 17: 29,026,016 (GRCm39) E363G possibly damaging Het
Ccdc96 T C 5: 36,642,510 (GRCm39) L172P possibly damaging Het
Cln3 G A 7: 126,179,308 (GRCm39) probably benign Het
Dnah7c T C 1: 46,668,071 (GRCm39) I1526T possibly damaging Het
Entr1 T A 2: 26,274,805 (GRCm39) N364I probably damaging Het
Fmo3 T G 1: 162,786,147 (GRCm39) E281A probably damaging Het
Frem2 A G 3: 53,559,491 (GRCm39) I1672T probably benign Het
Gbp2b A G 3: 142,309,470 (GRCm39) I194V probably benign Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hk1 A G 10: 62,126,098 (GRCm39) V396A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il19 A T 1: 130,863,770 (GRCm39) C74S probably damaging Het
Krt1c T C 15: 101,719,562 (GRCm39) T703A unknown Het
Lrig2 A T 3: 104,365,160 (GRCm39) V664E probably damaging Het
Lrrc37a T C 11: 103,348,430 (GRCm39) K2755R unknown Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mbtd1 A G 11: 93,796,001 (GRCm39) N13D probably benign Het
Mfsd4b5 T C 10: 39,850,704 (GRCm39) probably benign Het
Nras A G 3: 102,967,541 (GRCm39) I46V probably benign Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Ogfod2 C A 5: 124,251,272 (GRCm39) probably null Het
Or10q3 C A 19: 11,847,869 (GRCm39) R237L possibly damaging Het
Or10v1 T A 19: 11,873,880 (GRCm39) F165Y probably damaging Het
Or11a4 T C 17: 37,536,049 (GRCm39) V11A probably benign Het
Or2w1b T A 13: 21,300,031 (GRCm39) H56Q probably benign Het
Or4c3 C A 2: 89,852,089 (GRCm39) G107V probably damaging Het
Or6c5 C T 10: 129,074,377 (GRCm39) R120C probably damaging Het
Pkmyt1 A G 17: 23,954,305 (GRCm39) M362V probably benign Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1r12b A G 1: 134,693,713 (GRCm39) S983P probably benign Het
Ptpn22 A G 3: 103,780,957 (GRCm39) probably benign Het
Raph1 A T 1: 60,537,682 (GRCm39) D491E probably benign Het
Rc3h1 A G 1: 160,786,969 (GRCm39) probably null Het
Rtn4 T C 11: 29,643,819 (GRCm39) L5P probably benign Het
Slc23a4 C T 6: 34,930,723 (GRCm39) V400I probably benign Het
Slco1a5 A G 6: 142,204,698 (GRCm39) probably benign Het
Smpd1 T C 7: 105,205,108 (GRCm39) F329S probably benign Het
Sycp2l A G 13: 41,295,440 (GRCm39) I334M probably damaging Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Ten1 G A 11: 116,107,771 (GRCm39) probably null Het
Tfap2d C G 1: 19,174,718 (GRCm39) S57C possibly damaging Het
Tnr A G 1: 159,719,593 (GRCm39) M957V probably benign Het
Trbv13-3 A G 6: 41,107,079 (GRCm39) probably benign Het
Trp53rkb C T 2: 166,637,446 (GRCm39) A134V possibly damaging Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r74 T C 7: 85,607,345 (GRCm39) Y126C probably benign Het
Vmn2r96 T A 17: 18,817,941 (GRCm39) I698N probably damaging Het
Other mutations in B020004C17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:B020004C17Rik APN 14 57,253,480 (GRCm39) missense probably damaging 0.96
IGL03396:B020004C17Rik APN 14 57,253,993 (GRCm39) missense possibly damaging 0.61
R0664:B020004C17Rik UTSW 14 57,254,225 (GRCm39) missense possibly damaging 0.56
R3978:B020004C17Rik UTSW 14 57,254,645 (GRCm39) missense possibly damaging 0.78
R3979:B020004C17Rik UTSW 14 57,254,645 (GRCm39) missense possibly damaging 0.78
R4415:B020004C17Rik UTSW 14 57,254,874 (GRCm39) makesense probably null
R5290:B020004C17Rik UTSW 14 57,254,036 (GRCm39) missense possibly damaging 0.94
R5479:B020004C17Rik UTSW 14 57,253,999 (GRCm39) missense probably benign 0.36
R5651:B020004C17Rik UTSW 14 57,252,689 (GRCm39) start gained probably benign
R5655:B020004C17Rik UTSW 14 57,252,689 (GRCm39) start gained probably benign
R5736:B020004C17Rik UTSW 14 57,254,823 (GRCm39) missense possibly damaging 0.66
R7368:B020004C17Rik UTSW 14 57,254,773 (GRCm39) missense possibly damaging 0.95
R7759:B020004C17Rik UTSW 14 57,254,242 (GRCm39) missense possibly damaging 0.96
R9299:B020004C17Rik UTSW 14 57,254,230 (GRCm39) missense probably damaging 0.96
R9410:B020004C17Rik UTSW 14 57,254,273 (GRCm39) missense possibly damaging 0.92
Z1177:B020004C17Rik UTSW 14 57,252,717 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTCAAGGCAATGGAATTTGGAC -3'
(R):5'- AGCTGTCATCACGAGGTGAC -3'

Sequencing Primer
(F):5'- CAAGGCAATGGAATTTGGACTTGTTC -3'
(R):5'- ACCTCGGCAGCTGAAGGTTG -3'
Posted On 2015-04-29