Incidental Mutation 'R5181:Cyrib'
ID 397572
Institutional Source Beutler Lab
Gene Symbol Cyrib
Ensembl Gene ENSMUSG00000022378
Gene Name CYFIP related Rac1 interactor B
Synonyms 0910001A06Rik, Fam49b
MMRRC Submission 042761-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5181 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 63800946-63932327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63810526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 234 (M234L)
Ref Sequence ENSEMBL: ENSMUSP00000154320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063838] [ENSMUST00000164532] [ENSMUST00000227024] [ENSMUST00000228226] [ENSMUST00000228908]
AlphaFold Q921M7
Predicted Effect probably damaging
Transcript: ENSMUST00000063838
AA Change: M234L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066359
Gene: ENSMUSG00000022378
AA Change: M234L

DomainStartEndE-ValueType
Pfam:DUF1394 16 320 1e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164532
AA Change: M234L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132486
Gene: ENSMUSG00000022378
AA Change: M234L

DomainStartEndE-ValueType
Pfam:DUF1394 18 320 3e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227024
Predicted Effect probably damaging
Transcript: ENSMUST00000228226
AA Change: M234L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000228908
Meta Mutation Damage Score 0.6308 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,764,937 (GRCm39) D642E probably benign Het
Anxa2 T C 9: 69,383,347 (GRCm39) V54A probably benign Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cdca2 A G 14: 67,917,614 (GRCm39) S595P probably damaging Het
Cenpe G A 3: 134,948,064 (GRCm39) E1208K probably damaging Het
Cfh T C 1: 140,075,384 (GRCm39) probably benign Het
Colq T A 14: 31,279,799 (GRCm39) H9L probably benign Het
Coq8b T C 7: 26,951,747 (GRCm39) I403T possibly damaging Het
Dcdc2a C A 13: 25,386,347 (GRCm39) T407K possibly damaging Het
Dennd2b T C 7: 109,155,997 (GRCm39) Y251C probably benign Het
Gask1b A T 3: 79,793,618 (GRCm39) S29C probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Inpp5f A G 7: 128,281,555 (GRCm39) T519A probably damaging Het
Isl2 G T 9: 55,449,561 (GRCm39) R79L probably benign Het
Kif9 T A 9: 110,350,336 (GRCm39) D742E probably damaging Het
Lgi2 T A 5: 52,711,792 (GRCm39) K176M probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrch4 A G 5: 137,627,665 (GRCm39) D66G probably damaging Het
Milr1 G A 11: 106,645,806 (GRCm39) G116D probably damaging Het
Myof T C 19: 37,921,071 (GRCm39) D1397G possibly damaging Het
Neurod2 T C 11: 98,218,204 (GRCm39) H320R probably benign Het
Nox3 A T 17: 3,685,561 (GRCm39) Y562* probably null Het
Nrap G A 19: 56,333,960 (GRCm39) H884Y possibly damaging Het
Odad4 G A 11: 100,440,719 (GRCm39) D67N probably damaging Het
Pde3a T C 6: 141,426,981 (GRCm39) probably null Het
Pgm2l1 G A 7: 99,910,965 (GRCm39) C303Y probably benign Het
Phip A G 9: 82,753,243 (GRCm39) probably benign Het
Plxna4 A G 6: 32,493,932 (GRCm39) I228T probably damaging Het
Prdm2 A G 4: 142,861,536 (GRCm39) S585P probably benign Het
Prpf6 T C 2: 181,291,339 (GRCm39) I718T probably damaging Het
Rpp40 T C 13: 36,080,695 (GRCm39) probably null Het
Skic2 T C 17: 35,063,802 (GRCm39) D547G probably benign Het
Slc22a22 T A 15: 57,118,519 (GRCm39) Y264F probably benign Het
Slc5a4b A T 10: 75,896,221 (GRCm39) L578* probably null Het
Sptan1 A T 2: 29,883,736 (GRCm39) probably benign Het
Sult2a4 T G 7: 13,722,316 (GRCm39) I50L probably benign Het
Taar6 T C 10: 23,860,683 (GRCm39) T288A possibly damaging Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tmem98 T C 11: 80,710,758 (GRCm39) V139A probably damaging Het
Triobp T C 15: 78,851,954 (GRCm39) Y703H probably benign Het
Ttc34 A G 4: 154,946,703 (GRCm39) T868A probably benign Het
Ttn C T 2: 76,665,225 (GRCm39) probably benign Het
Vipas39 A T 12: 87,286,601 (GRCm39) W470R probably damaging Het
Vmn2r102 T C 17: 19,897,003 (GRCm39) Y117H probably benign Het
Vmn2r111 T C 17: 22,790,001 (GRCm39) N335S possibly damaging Het
Vmn2r70 A G 7: 85,208,387 (GRCm39) Y697H probably damaging Het
Wnk4 C A 11: 101,156,203 (GRCm39) R461S probably damaging Het
Xylb T A 9: 119,193,567 (GRCm39) L87Q probably damaging Het
Zcchc9 T A 13: 91,945,281 (GRCm39) K101* probably null Het
Zfp503 C A 14: 22,035,705 (GRCm39) A404S probably benign Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging 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
R3956:Cyrib UTSW 15 63,813,823 (GRCm39) missense probably damaging 1.00
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'- TTGAAGTGTCCATAGTCCAACTC -3'
(R):5'- AAATAGGAGCCAGATTATTTGCTGG -3'

Sequencing Primer
(F):5'- GTGTCCATAGTCCAACTCTATGTTTC -3'
(R):5'- AGCCAGATTATTTGCTGGTTTCTG -3'
Posted On 2016-07-06