Incidental Mutation 'R3893:Cyria'
ID 310051
Institutional Source Beutler Lab
Gene Symbol Cyria
Ensembl Gene ENSMUSG00000020589
Gene Name CYFIP related Rac1 interactor A
Synonyms Fam49a, D12Ertd553e, 2410157M17Rik
MMRRC Submission 040805-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.639) question?
Stock # R3893 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 12312140-12430966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12412526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 232 (V232A)
Ref Sequence ENSEMBL: ENSMUSP00000152252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069005] [ENSMUST00000069066] [ENSMUST00000223061]
AlphaFold Q8BHZ0
Predicted Effect probably benign
Transcript: ENSMUST00000069005
AA Change: V232A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589
AA Change: V232A

DomainStartEndE-ValueType
Pfam:DUF1394 17 319 2.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069066
AA Change: V232A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589
AA Change: V232A

DomainStartEndE-ValueType
Pfam:DUF1394 15 319 1.9e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220545
Predicted Effect probably benign
Transcript: ENSMUST00000223061
AA Change: V232A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.0825 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik A T 9: 98,068,864 (GRCm39) noncoding transcript Het
Adam19 C T 11: 46,019,665 (GRCm39) A455V probably damaging Het
Akr1c19 G A 13: 4,288,441 (GRCm39) D140N probably damaging Het
Atoh1 A G 6: 64,707,117 (GRCm39) T271A probably damaging Het
Atp6v0a2 G A 5: 124,777,203 (GRCm39) R168Q probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Cadps A G 14: 12,488,883 (GRCm38) probably benign Het
Cfap69 A T 5: 5,631,245 (GRCm39) V61E probably damaging Het
Chd5 A G 4: 152,445,113 (GRCm39) R365G probably damaging Het
Cracdl T A 1: 37,670,539 (GRCm39) M134L probably benign Het
Dnajc18 A T 18: 35,834,048 (GRCm39) probably null Het
Fmnl1 T A 11: 103,087,583 (GRCm39) probably benign Het
Gca A G 2: 62,509,564 (GRCm39) Y89C probably damaging Het
Gcnt2 A G 13: 41,013,922 (GRCm39) Y31C probably benign Het
Gem C T 4: 11,705,889 (GRCm39) probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
Gprin3 T C 6: 59,331,464 (GRCm39) Y281C probably benign Het
H2-M11 A G 17: 36,857,982 (GRCm39) T6A probably benign Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Lrrk1 T C 7: 65,928,268 (GRCm39) probably benign Het
Macf1 A G 4: 123,380,199 (GRCm39) Y1298H probably damaging Het
Micu3 C T 8: 40,819,265 (GRCm39) L315F probably damaging Het
Pkd1 G A 17: 24,791,084 (GRCm39) probably null Het
Pkhd1 A T 1: 20,382,362 (GRCm39) Y2596* probably null Het
Pnliprp2 A G 19: 58,754,705 (GRCm39) S250G probably benign Het
Prkcq A C 2: 11,231,782 (GRCm39) E35A probably damaging Het
Prpf8 C A 11: 75,391,083 (GRCm39) S1377R possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rsbn1l C T 5: 21,110,838 (GRCm39) R500H probably damaging Het
Sart3 C T 5: 113,884,697 (GRCm39) E636K probably benign Het
Skint3 A G 4: 112,111,115 (GRCm39) K80R probably damaging Het
Slc11a1 G A 1: 74,423,865 (GRCm39) A398T probably damaging Het
Sspo G T 6: 48,453,505 (GRCm39) E2887* probably null Het
Tmc5 A C 7: 118,244,592 (GRCm39) Y490S probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tnfsf8 G T 4: 63,779,196 (GRCm39) T34K possibly damaging Het
Trim5 T A 7: 103,926,042 (GRCm39) N173I probably damaging Het
Vkorc1l1 A T 5: 130,011,112 (GRCm39) I109L probably benign Het
Vmn1r214 A G 13: 23,218,811 (GRCm39) T102A probably benign Het
Wdr19 A G 5: 65,385,635 (GRCm39) D579G possibly damaging Het
Zc3h6 A G 2: 128,858,060 (GRCm39) Y697C probably damaging Het
Zfp955b T C 17: 33,521,968 (GRCm39) I479T probably benign Het
Other mutations in Cyria
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Cyria APN 12 12,409,235 (GRCm39) missense probably benign
IGL01614:Cyria APN 12 12,411,574 (GRCm39) critical splice donor site probably null
IGL02313:Cyria APN 12 12,414,752 (GRCm39) missense possibly damaging 0.93
R0129:Cyria UTSW 12 12,412,350 (GRCm39) missense probably damaging 0.99
R1807:Cyria UTSW 12 12,411,505 (GRCm39) missense probably benign 0.01
R2017:Cyria UTSW 12 12,412,362 (GRCm39) missense probably damaging 1.00
R5816:Cyria UTSW 12 12,408,166 (GRCm39) missense probably benign 0.33
R7169:Cyria UTSW 12 12,409,233 (GRCm39) missense possibly damaging 0.81
R7363:Cyria UTSW 12 12,390,665 (GRCm39) splice site probably null
R7522:Cyria UTSW 12 12,408,057 (GRCm39) missense possibly damaging 0.93
R7877:Cyria UTSW 12 12,414,798 (GRCm39) missense probably benign 0.37
R8061:Cyria UTSW 12 12,412,028 (GRCm39) missense possibly damaging 0.55
R9048:Cyria UTSW 12 12,412,286 (GRCm39) missense probably damaging 1.00
R9490:Cyria UTSW 12 12,390,727 (GRCm39) missense probably benign
RF015:Cyria UTSW 12 12,419,939 (GRCm39) missense probably benign
X0017:Cyria UTSW 12 12,412,070 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCACACCGATGTTGAAGAC -3'
(R):5'- AGCGGATATGGCATTGACACC -3'

Sequencing Primer
(F):5'- CACCGATGTTGAAGACTCTTAGC -3'
(R):5'- GATATGGCATTGACACCGACCAC -3'
Posted On 2015-04-17