Incidental Mutation 'R6669:Cyfip1'
ID 528057
Institutional Source Beutler Lab
Gene Symbol Cyfip1
Ensembl Gene ENSMUSG00000030447
Gene Name cytoplasmic FMR1 interacting protein 1
Synonyms l7Rl1, E030028J09Rik, pl-1, Shyc, P140SRA-1, Sra-1, l(7)1Rl
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6669 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 55491556-55582381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55549809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 657 (S657T)
Ref Sequence ENSEMBL: ENSMUSP00000082353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000085255] [ENSMUST00000163845] [ENSMUST00000206862]
AlphaFold Q7TMB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000032629
AA Change: S659T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: S659T

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:DUF1394 59 302 5.7e-11 PFAM
Pfam:FragX_IP 389 1222 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085255
AA Change: S657T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: S657T

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1222 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163845
AA Change: S659T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: S659T

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1224 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173384
Predicted Effect probably damaging
Transcript: ENSMUST00000206862
AA Change: S629T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174660
Meta Mutation Damage Score 0.4637 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
MGI Phenotype PHENOTYPE: Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging Het
Other mutations in Cyfip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Cyfip1 APN 7 55,553,958 (GRCm39) missense probably damaging 1.00
IGL01351:Cyfip1 APN 7 55,547,991 (GRCm39) nonsense probably null
IGL01662:Cyfip1 APN 7 55,546,487 (GRCm39) missense probably damaging 1.00
IGL02034:Cyfip1 APN 7 55,548,101 (GRCm39) missense probably damaging 0.99
IGL02039:Cyfip1 APN 7 55,524,769 (GRCm39) missense possibly damaging 0.90
IGL02063:Cyfip1 APN 7 55,576,096 (GRCm39) missense probably damaging 1.00
IGL02429:Cyfip1 APN 7 55,521,730 (GRCm39) splice site probably benign
IGL03256:Cyfip1 APN 7 55,557,182 (GRCm39) missense possibly damaging 0.67
R0455:Cyfip1 UTSW 7 55,541,802 (GRCm39) missense probably benign 0.18
R0546:Cyfip1 UTSW 7 55,572,564 (GRCm39) nonsense probably null
R0671:Cyfip1 UTSW 7 55,573,710 (GRCm39) splice site probably null
R0732:Cyfip1 UTSW 7 55,536,529 (GRCm39) missense probably damaging 1.00
R0843:Cyfip1 UTSW 7 55,572,568 (GRCm39) missense probably benign 0.24
R1666:Cyfip1 UTSW 7 55,521,646 (GRCm39) missense probably damaging 0.99
R1789:Cyfip1 UTSW 7 55,576,143 (GRCm39) missense probably damaging 1.00
R1817:Cyfip1 UTSW 7 55,523,196 (GRCm39) missense possibly damaging 0.51
R1929:Cyfip1 UTSW 7 55,549,705 (GRCm39) missense probably null 1.00
R2271:Cyfip1 UTSW 7 55,549,705 (GRCm39) missense probably null 1.00
R2272:Cyfip1 UTSW 7 55,549,705 (GRCm39) missense probably null 1.00
R2328:Cyfip1 UTSW 7 55,544,739 (GRCm39) missense possibly damaging 0.87
R2518:Cyfip1 UTSW 7 55,578,032 (GRCm39) missense probably damaging 1.00
R2963:Cyfip1 UTSW 7 55,544,783 (GRCm39) missense probably damaging 0.99
R4271:Cyfip1 UTSW 7 55,528,849 (GRCm39) missense probably benign 0.02
R4435:Cyfip1 UTSW 7 55,549,789 (GRCm39) missense probably damaging 0.99
R4640:Cyfip1 UTSW 7 55,563,199 (GRCm39) missense possibly damaging 0.92
R4676:Cyfip1 UTSW 7 55,524,761 (GRCm39) missense probably damaging 0.99
R4887:Cyfip1 UTSW 7 55,521,816 (GRCm39) missense probably damaging 1.00
R5085:Cyfip1 UTSW 7 55,548,083 (GRCm39) missense probably benign 0.33
R5238:Cyfip1 UTSW 7 55,541,779 (GRCm39) missense probably benign
R5244:Cyfip1 UTSW 7 55,574,947 (GRCm39) missense probably damaging 1.00
R5288:Cyfip1 UTSW 7 55,574,883 (GRCm39) missense possibly damaging 0.60
R5294:Cyfip1 UTSW 7 55,523,231 (GRCm39) missense possibly damaging 0.88
R5552:Cyfip1 UTSW 7 55,521,855 (GRCm39) missense possibly damaging 0.94
R5558:Cyfip1 UTSW 7 55,541,749 (GRCm39) missense possibly damaging 0.71
R5667:Cyfip1 UTSW 7 55,523,478 (GRCm39) missense probably benign 0.19
R5819:Cyfip1 UTSW 7 55,528,899 (GRCm39) missense probably damaging 1.00
R5859:Cyfip1 UTSW 7 55,574,929 (GRCm39) missense probably damaging 1.00
R5867:Cyfip1 UTSW 7 55,576,061 (GRCm39) missense probably damaging 1.00
R5868:Cyfip1 UTSW 7 55,576,061 (GRCm39) missense probably damaging 1.00
R5944:Cyfip1 UTSW 7 55,521,878 (GRCm39) missense probably damaging 0.98
R6124:Cyfip1 UTSW 7 55,547,691 (GRCm39) missense probably benign 0.12
R6131:Cyfip1 UTSW 7 55,523,228 (GRCm39) missense possibly damaging 0.79
R6219:Cyfip1 UTSW 7 55,558,189 (GRCm39) missense possibly damaging 0.52
R6243:Cyfip1 UTSW 7 55,550,277 (GRCm39) missense probably damaging 1.00
R6869:Cyfip1 UTSW 7 55,557,113 (GRCm39) missense possibly damaging 0.73
R7014:Cyfip1 UTSW 7 55,569,241 (GRCm39) missense probably benign 0.34
R7224:Cyfip1 UTSW 7 55,577,937 (GRCm39) frame shift probably null
R7225:Cyfip1 UTSW 7 55,577,937 (GRCm39) frame shift probably null
R7305:Cyfip1 UTSW 7 55,577,937 (GRCm39) frame shift probably null
R7336:Cyfip1 UTSW 7 55,576,148 (GRCm39) missense possibly damaging 0.96
R7429:Cyfip1 UTSW 7 55,550,341 (GRCm39) missense probably damaging 1.00
R7430:Cyfip1 UTSW 7 55,550,341 (GRCm39) missense probably damaging 1.00
R7469:Cyfip1 UTSW 7 55,527,468 (GRCm39) missense possibly damaging 0.91
R7568:Cyfip1 UTSW 7 55,521,997 (GRCm39) splice site probably null
R7830:Cyfip1 UTSW 7 55,523,210 (GRCm39) missense probably damaging 1.00
R7839:Cyfip1 UTSW 7 55,536,483 (GRCm39) missense probably damaging 0.98
R7859:Cyfip1 UTSW 7 55,549,774 (GRCm39) missense probably damaging 1.00
R7965:Cyfip1 UTSW 7 55,546,523 (GRCm39) missense possibly damaging 0.78
R8176:Cyfip1 UTSW 7 55,574,175 (GRCm39) missense probably benign 0.12
R8386:Cyfip1 UTSW 7 55,527,488 (GRCm39) missense probably damaging 1.00
R8388:Cyfip1 UTSW 7 55,521,873 (GRCm39) missense probably damaging 1.00
R8444:Cyfip1 UTSW 7 55,521,902 (GRCm39) missense possibly damaging 0.64
R8845:Cyfip1 UTSW 7 55,579,834 (GRCm39) missense probably benign 0.00
R8986:Cyfip1 UTSW 7 55,558,140 (GRCm39) missense probably damaging 1.00
R9197:Cyfip1 UTSW 7 55,554,222 (GRCm39) missense probably null 0.31
R9214:Cyfip1 UTSW 7 55,523,273 (GRCm39) critical splice donor site probably null
R9228:Cyfip1 UTSW 7 55,549,758 (GRCm39) missense probably damaging 1.00
R9269:Cyfip1 UTSW 7 55,557,179 (GRCm39) nonsense probably null
R9336:Cyfip1 UTSW 7 55,554,189 (GRCm39) missense probably benign 0.01
R9599:Cyfip1 UTSW 7 55,563,277 (GRCm39) critical splice donor site probably null
R9622:Cyfip1 UTSW 7 55,528,853 (GRCm39) missense possibly damaging 0.87
X0018:Cyfip1 UTSW 7 55,549,773 (GRCm39) missense probably damaging 0.98
X0028:Cyfip1 UTSW 7 55,557,178 (GRCm39) missense probably damaging 1.00
Z1088:Cyfip1 UTSW 7 55,524,800 (GRCm39) missense probably damaging 0.99
Z1177:Cyfip1 UTSW 7 55,548,068 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CTTCCTGCTCATGAACGATAACC -3'
(R):5'- CTGCTCCTGTATGAAGGACAC -3'

Sequencing Primer
(F):5'- CCTGCTCATGAACGATAACCTATTG -3'
(R):5'- AAGGCGTCCATGACTTTACC -3'
Posted On 2018-07-24