Incidental Mutation 'R8053:Cyrib'
ID 619215
Institutional Source Beutler Lab
Gene Symbol Cyrib
Ensembl Gene ENSMUSG00000022378
Gene Name CYFIP related Rac1 interactor B
Synonyms 0910001A06Rik, Fam49b
MMRRC Submission 067490-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 63800946-63932327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63813832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 155 (D155G)
Ref Sequence ENSEMBL: ENSMUSP00000066359 (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: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066359
Gene: ENSMUSG00000022378
AA Change: D155G

DomainStartEndE-ValueType
Pfam:DUF1394 16 320 1e-179 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164532
AA Change: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132486
Gene: ENSMUSG00000022378
AA Change: D155G

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: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228908
AA Change: D155G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C T 12: 18,583,728 (GRCm39) R263* probably null Het
Abca12 G A 1: 71,388,328 (GRCm39) R181* probably null Het
Adar T C 3: 89,654,592 (GRCm39) L908P probably damaging Het
Ankrd55 C T 13: 112,459,687 (GRCm39) R94C probably damaging Het
Aopep A T 13: 63,338,345 (GRCm39) K574* probably null Het
Carf A T 1: 60,167,197 (GRCm39) T177S probably benign Het
Ccdc162 C A 10: 41,520,577 (GRCm39) G693V probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Chd4 G T 6: 125,105,779 (GRCm39) E1799* probably null Het
Chrna3 T A 9: 54,922,674 (GRCm39) N378I probably benign Het
Clec4a2 T C 6: 123,104,998 (GRCm39) V96A probably benign Het
Cntnap5b T A 1: 100,318,402 (GRCm39) L683Q probably damaging Het
Crisp4 T A 1: 18,194,498 (GRCm39) Q208L probably benign Het
Crocc A G 4: 140,770,230 (GRCm39) probably null Het
Cyp2ab1 T C 16: 20,133,018 (GRCm39) E192G probably benign Het
Daglb A G 5: 143,489,024 (GRCm39) K627R probably benign Het
Desi2 G A 1: 178,065,482 (GRCm39) W16* probably null Het
Dtx3l T C 16: 35,759,322 (GRCm39) probably benign Het
Elf2 A G 3: 51,215,551 (GRCm39) V53A possibly damaging Het
Eomes A G 9: 118,309,621 (GRCm39) D325G probably damaging Het
Etl4 A T 2: 20,666,774 (GRCm39) L60F probably damaging Het
Exoc4 A G 6: 33,309,191 (GRCm39) D271G probably benign Het
F5 A G 1: 164,020,338 (GRCm39) I938V probably benign Het
Fdxr T A 11: 115,160,665 (GRCm39) K290M probably benign Het
Fgd5 G A 6: 91,966,425 (GRCm39) S886N probably benign Het
Gm11595 G A 11: 99,662,954 (GRCm39) S242F unknown Het
Gm14322 A T 2: 177,411,424 (GRCm39) Q78L probably damaging Het
Gm8267 A T 14: 44,962,307 (GRCm39) S38T possibly damaging Het
Gpr75 A T 11: 30,841,559 (GRCm39) T155S probably benign Het
Hectd3 T C 4: 116,858,055 (GRCm39) S628P possibly damaging Het
Hrh2 A G 13: 54,368,104 (GRCm39) T27A probably benign Het
Kif16b G A 2: 142,695,634 (GRCm39) R157C probably damaging Het
Krt16 T C 11: 100,137,613 (GRCm39) Y364C probably damaging Het
Lrrc37 T A 11: 103,495,392 (GRCm39) K2809I unknown Het
Map2k5 T A 9: 63,250,707 (GRCm39) N95I probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mthfd1 T A 12: 76,327,282 (GRCm39) D123E probably damaging Het
Muc2 A T 7: 141,284,575 (GRCm39) Y827F probably benign Het
Myh15 T A 16: 48,963,302 (GRCm39) M1081K possibly damaging Het
Nbeal1 A G 1: 60,318,954 (GRCm39) T1998A probably damaging Het
Neb T A 2: 52,176,029 (GRCm39) T1477S possibly damaging Het
Nox4 C A 7: 87,019,255 (GRCm39) P416Q probably damaging Het
Or10ak7 A G 4: 118,791,308 (GRCm39) S246P probably damaging Het
Or1e31 T C 11: 73,689,822 (GRCm39) T254A probably benign Het
Or2j3 A T 17: 38,616,101 (GRCm39) F84I probably benign Het
Or4c123 A T 2: 89,127,540 (GRCm39) F25I possibly damaging Het
Or5g23 T C 2: 85,439,234 (GRCm39) T7A probably damaging Het
Pcdhga4 A G 18: 37,819,308 (GRCm39) K286E probably benign Het
Pde10a A G 17: 9,193,604 (GRCm39) T679A probably benign Het
Phc2 C T 4: 128,603,433 (GRCm39) Q188* probably null Het
Pramel12 C A 4: 143,144,208 (GRCm39) Q185K probably benign Het
Prdm15 A G 16: 97,636,807 (GRCm39) M170T probably benign Het
Rab20 G T 8: 11,504,443 (GRCm39) Q86K probably damaging Het
Rev1 T C 1: 38,102,222 (GRCm39) I714V possibly damaging Het
Rexo2 A G 9: 48,386,418 (GRCm39) probably null Het
Rnf213 A G 11: 119,293,473 (GRCm39) K75E Het
Sdk2 C T 11: 113,745,177 (GRCm39) R706Q probably damaging Het
Sema3c C T 5: 17,860,020 (GRCm39) T95I probably benign Het
Sh3rf2 T A 18: 42,286,087 (GRCm39) S527T probably damaging Het
Sis A T 3: 72,856,901 (GRCm39) Y434* probably null Het
Slc16a6 G A 11: 109,349,395 (GRCm39) T222I probably damaging Het
Smad6 A G 9: 63,927,789 (GRCm39) L173P probably damaging Het
Sugct T A 13: 17,476,554 (GRCm39) N310I probably damaging Het
Syne1 T A 10: 5,002,658 (GRCm39) K259* probably null Het
Taar6 A G 10: 23,861,144 (GRCm39) V134A possibly damaging Het
Tmem199 A G 11: 78,398,612 (GRCm39) I184T possibly damaging Het
Tnrc18 G T 5: 142,736,385 (GRCm39) D1530E unknown Het
Tnxb G A 17: 34,923,153 (GRCm39) V2579M probably damaging Het
Vangl2 A G 1: 171,832,303 (GRCm39) F518L probably damaging Het
Vmn2r40 T C 7: 8,911,245 (GRCm39) T683A Het
Wapl C T 14: 34,414,278 (GRCm39) T380I probably damaging Het
Zfp874b A T 13: 67,622,217 (GRCm39) H360Q 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
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
Predicted Primers PCR Primer
(F):5'- GTAACCGTACCCACTCATGC -3'
(R):5'- AGGCGTTTGTGAATATACCAGATAG -3'

Sequencing Primer
(F):5'- CACTGCAACGTAGAGATCTTGTC -3'
(R):5'- GGTTACCACTGCAAACTAA -3'
Posted On 2020-01-23