Incidental Mutation 'R1817:Cyfip1'
ID 204499
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 039845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1817 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 55491556-55582381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 55523196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 70 (N70K)
Ref Sequence ENSEMBL: ENSMUSP00000127717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000085255] [ENSMUST00000163845] [ENSMUST00000173783] [ENSMUST00000206862]
AlphaFold Q7TMB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000032629
AA Change: N70K

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: N70K

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 benign
Transcript: ENSMUST00000085255
AA Change: N70K

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: N70K

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: N70K

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: N70K

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1224 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168271
SMART Domains Protein: ENSMUSP00000131596
Gene: ENSMUSG00000030447

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:DUF1394 57 267 1.8e-9 PFAM
low complexity region 390 403 N/A INTRINSIC
low complexity region 411 428 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173497
Predicted Effect probably benign
Transcript: ENSMUST00000173783
AA Change: N70K

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134509
Gene: ENSMUSG00000030447
AA Change: N70K

DomainStartEndE-ValueType
PDB:4N78|A 1 230 1e-142 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000206862
AA Change: N40K

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.5240 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
Validation Efficiency 95% (90/95)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,110,144 (GRCm39) S600T probably benign Het
Acly T A 11: 100,386,717 (GRCm39) Q615L probably benign Het
Adgrf1 C A 17: 43,620,924 (GRCm39) T387K probably benign Het
Afg3l1 G T 8: 124,228,670 (GRCm39) K745N probably damaging Het
Armc8 T C 9: 99,418,312 (GRCm39) T39A possibly damaging Het
Atm C A 9: 53,403,533 (GRCm39) probably benign Het
Babam2 A G 5: 32,214,890 (GRCm39) T324A probably damaging Het
Btd C A 14: 31,384,246 (GRCm39) D77E possibly damaging Het
Cadm1 T A 9: 47,740,668 (GRCm39) probably benign Het
Card11 A T 5: 140,871,315 (GRCm39) D729E probably benign Het
Ccni G T 5: 93,335,967 (GRCm39) T144K possibly damaging Het
Ceacam23 C T 7: 17,607,255 (GRCm39) noncoding transcript Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Cgas A G 9: 78,341,593 (GRCm39) probably null Het
Cpsf7 T C 19: 10,512,803 (GRCm39) F296L possibly damaging Het
Cyp4a12b A G 4: 115,271,259 (GRCm39) probably benign Het
Ddx20 A T 3: 105,585,896 (GRCm39) Y816* probably null Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Dgat1 T A 15: 76,386,703 (GRCm39) M445L probably damaging Het
Dnah5 T A 15: 28,246,546 (GRCm39) L628* probably null Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dnmt1 T C 9: 20,838,422 (GRCm39) T215A probably benign Het
Dsg4 C T 18: 20,604,302 (GRCm39) T923M probably damaging Het
Enox1 A G 14: 77,852,915 (GRCm39) I394V possibly damaging Het
Esrp2 A T 8: 106,861,250 (GRCm39) M183K probably damaging Het
Fam171a1 C T 2: 3,179,410 (GRCm39) P79S probably benign Het
Fga A G 3: 82,939,082 (GRCm39) T486A probably benign Het
Fkbp10 G T 11: 100,306,715 (GRCm39) A36S probably benign Het
Fnip1 A G 11: 54,393,279 (GRCm39) T572A probably benign Het
Fxn A C 19: 24,257,765 (GRCm39) probably null Het
Gaa C T 11: 119,175,324 (GRCm39) Q901* probably null Het
Gabrg1 A G 5: 70,911,594 (GRCm39) M344T probably benign Het
Galnt7 C T 8: 57,991,212 (GRCm39) V433M probably damaging Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Hydin A C 8: 111,259,459 (GRCm39) D2477A probably benign Het
Igsf6 T C 7: 120,670,031 (GRCm39) Y37C probably damaging Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Kif3a T C 11: 53,489,561 (GRCm39) Y138H probably damaging Het
Klra17 A G 6: 129,845,681 (GRCm39) probably null Het
Lcorl A T 5: 45,952,688 (GRCm39) I55N probably damaging Het
Lrrc49 A G 9: 60,510,059 (GRCm39) S398P possibly damaging Het
Ltv1 A G 10: 13,055,018 (GRCm39) L384S probably damaging Het
Mageb3 A T 2: 121,784,918 (GRCm39) Y261* probably null Het
Mical3 T G 6: 121,019,196 (GRCm39) T9P probably benign Het
Myrip C T 9: 120,217,228 (GRCm39) S49L probably damaging Het
Nrap T C 19: 56,372,487 (GRCm39) probably benign Het
Or2m12 T C 16: 19,104,627 (GRCm39) N289D probably damaging Het
Or4k5 A G 14: 50,385,728 (GRCm39) V201A probably benign Het
Otoa A T 7: 120,759,753 (GRCm39) probably benign Het
Pals2 T G 6: 50,140,411 (GRCm39) F144V probably benign Het
Parp11 T A 6: 127,467,008 (GRCm39) I133N probably damaging Het
Pcnx1 A G 12: 81,965,416 (GRCm39) T528A probably benign Het
Pde4c A G 8: 71,179,638 (GRCm39) H63R probably benign Het
Pdpk1 T C 17: 24,329,878 (GRCm39) K53E probably damaging Het
Pdzd7 A T 19: 45,024,615 (GRCm39) M468K probably damaging Het
Perm1 C A 4: 156,303,061 (GRCm39) P535Q possibly damaging Het
Pgap1 C A 1: 54,575,128 (GRCm39) A265S probably benign Het
Pik3c2a A T 7: 115,975,747 (GRCm39) probably null Het
Plxnd1 T C 6: 115,957,562 (GRCm39) T491A possibly damaging Het
Pms1 A T 1: 53,246,128 (GRCm39) D470E probably benign Het
Prf1 C A 10: 61,138,762 (GRCm39) T240N probably damaging Het
Prune2 A G 19: 17,099,445 (GRCm39) T1650A probably benign Het
Ptprf A G 4: 118,080,462 (GRCm39) L1264P probably benign Het
Ptprs A G 17: 56,726,527 (GRCm39) S948P probably damaging Het
Rapgef1 T C 2: 29,576,268 (GRCm39) V117A probably damaging Het
Rnf123 A G 9: 107,940,125 (GRCm39) V756A probably benign Het
Sez6l2 A G 7: 126,566,291 (GRCm39) E741G probably damaging Het
Shc3 A T 13: 51,626,888 (GRCm39) I125K possibly damaging Het
Smr3a A T 5: 88,155,917 (GRCm39) probably benign Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
St6gal1 A T 16: 23,140,083 (GRCm39) K85* probably null Het
Taf1b T G 12: 24,597,121 (GRCm39) D353E possibly damaging Het
Tcp10b C T 17: 13,286,590 (GRCm39) P180S possibly damaging Het
Tlr9 A T 9: 106,102,142 (GRCm39) M478L probably benign Het
Tpr A T 1: 150,295,654 (GRCm39) E892D probably damaging Het
Trio C T 15: 27,742,581 (GRCm39) W22* probably null Het
Usp14 A G 18: 10,024,673 (GRCm39) V8A probably damaging Het
Vmn2r19 A T 6: 123,307,011 (GRCm39) K506N possibly damaging Het
Vmn2r45 T A 7: 8,475,372 (GRCm39) N552I probably damaging Het
Vmn2r56 A T 7: 12,449,542 (GRCm39) M232K probably benign Het
Vps13b T A 15: 35,910,788 (GRCm39) F3517L possibly damaging Het
Yif1a C T 19: 5,142,333 (GRCm39) R247* probably null Het
Zbtb5 A G 4: 44,993,767 (GRCm39) V539A probably benign Het
Zfp180 G A 7: 23,804,652 (GRCm39) R357Q probably damaging Het
Zfp536 A G 7: 37,268,042 (GRCm39) L458P probably damaging Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfp970 C T 2: 177,167,976 (GRCm39) H517Y probably damaging Het
Zranb3 A T 1: 127,945,293 (GRCm39) probably null 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
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
R6669:Cyfip1 UTSW 7 55,549,809 (GRCm39) missense probably damaging 0.99
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'- CCTCAGAAATGACTGCACTGTC -3'
(R):5'- TCTTATCACGCTGAAGCAGG -3'

Sequencing Primer
(F):5'- GAATCCTTTGCAGCCTGCTGAAG -3'
(R):5'- TTATCACGCTGAAGCAGGCATTC -3'
Posted On 2014-06-23