Incidental Mutation 'R3956:Cyrib'
ID 310722
Institutional Source Beutler Lab
Gene Symbol Cyrib
Ensembl Gene ENSMUSG00000022378
Gene Name CYFIP related Rac1 interactor B
Synonyms 0910001A06Rik, Fam49b
MMRRC Submission 040833-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3956 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 63800946-63932327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63813823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 158 (Y158C)
Ref Sequence ENSEMBL: ENSMUSP00000154547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063838] [ENSMUST00000164532] [ENSMUST00000226675] [ENSMUST00000227024] [ENSMUST00000228226] [ENSMUST00000228908]
AlphaFold Q921M7
Predicted Effect probably damaging
Transcript: ENSMUST00000063838
AA Change: Y158C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066359
Gene: ENSMUSG00000022378
AA Change: Y158C

DomainStartEndE-ValueType
Pfam:DUF1394 16 320 1e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164532
AA Change: Y158C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132486
Gene: ENSMUSG00000022378
AA Change: Y158C

DomainStartEndE-ValueType
Pfam:DUF1394 18 320 3e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226675
Predicted Effect probably benign
Transcript: ENSMUST00000227024
Predicted Effect probably damaging
Transcript: ENSMUST00000228226
AA Change: Y158C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228908
AA Change: Y158C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9580 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Aagab A G 9: 63,526,442 (GRCm39) E155G probably damaging Het
Abca16 A G 7: 120,126,975 (GRCm39) N1221S probably damaging Het
Acad11 A G 9: 103,963,351 (GRCm39) probably benign Het
Acsl1 T A 8: 46,987,495 (GRCm39) L693Q probably damaging Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
B3gat1 A G 9: 26,668,324 (GRCm39) T305A possibly damaging Het
BC051076 A G 5: 88,112,110 (GRCm39) noncoding transcript Het
Ccni A G 5: 93,331,263 (GRCm39) L236S probably damaging Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cdc45 A G 16: 18,624,180 (GRCm39) V119A probably benign Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Creld1 A G 6: 113,469,190 (GRCm39) D340G possibly damaging Het
Dipk1b C T 2: 26,525,579 (GRCm39) P171L probably benign Het
Dnah2 T A 11: 69,374,847 (GRCm39) I1417L probably benign Het
Efhc1 A C 1: 21,048,890 (GRCm39) K434N probably damaging Het
Evi5l T C 8: 4,241,358 (GRCm39) V297A possibly damaging Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gfod1 A T 13: 43,354,538 (GRCm39) C146S probably damaging Het
Greb1 G T 12: 16,732,300 (GRCm39) P1554T probably damaging Het
Grip1 A T 10: 119,765,931 (GRCm39) I88F probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2e A G 5: 23,701,023 (GRCm39) T121A probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mfsd2b A T 12: 4,916,848 (GRCm39) F194Y probably damaging Het
Mtmr3 A T 11: 4,441,138 (GRCm39) V504E probably damaging Het
Neb C T 2: 52,091,975 (GRCm39) V5030M possibly damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or5ac17 G A 16: 59,036,428 (GRCm39) Q183* probably null Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5al5 C T 2: 85,961,363 (GRCm39) V215I probably benign Het
Pmfbp1 A G 8: 110,256,801 (GRCm39) S502G probably benign Het
Prb1c G T 6: 132,338,814 (GRCm39) Q135K unknown Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qng1 A G 13: 58,532,203 (GRCm39) S118P probably damaging Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Riok3 T A 18: 12,276,031 (GRCm39) Y242* probably null Het
Robo2 T G 16: 73,758,755 (GRCm39) Y672S probably damaging Het
Rsbn1 A G 3: 103,835,991 (GRCm39) H343R probably damaging Het
Sar1a A T 10: 61,522,172 (GRCm39) N88I possibly damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Spmip9 A G 6: 70,890,469 (GRCm39) Y108H possibly damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tlcd5 C A 9: 43,022,808 (GRCm39) C182F probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Top6bl T A 19: 4,742,525 (GRCm39) T214S probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Umodl1 A G 17: 31,221,837 (GRCm39) T1280A probably benign Het
Xpnpep3 A G 15: 81,335,230 (GRCm39) probably benign Het
Other mutations in Cyrib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01907:Cyrib APN 15 63,803,535 (GRCm39) splice site probably benign
IGL01983:Cyrib APN 15 63,809,236 (GRCm39) missense probably benign 0.00
Topsy UTSW 15 63,810,526 (GRCm39) missense probably damaging 0.99
turvey UTSW 15 63,828,447 (GRCm39) critical splice donor site probably null
Upsidedown UTSW 15 63,810,507 (GRCm39) splice site probably null
PIT4480001:Cyrib UTSW 15 63,828,490 (GRCm39) missense probably benign 0.42
R5181:Cyrib UTSW 15 63,810,526 (GRCm39) missense probably damaging 0.99
R5484:Cyrib UTSW 15 63,815,056 (GRCm39) missense probably damaging 1.00
R5723:Cyrib UTSW 15 63,828,447 (GRCm39) critical splice donor site probably null
R7260:Cyrib UTSW 15 63,829,438 (GRCm39) missense possibly damaging 0.65
R7368:Cyrib UTSW 15 63,810,507 (GRCm39) splice site probably null
R8053:Cyrib UTSW 15 63,813,832 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTAACCGTACCCACTCATGC -3'
(R):5'- GGCGTTTGTGAATATACCAGATAGTTG -3'

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