Incidental Mutation 'R7224:Cyfip1'
ID 562024
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 045296-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7224 (G1)
Quality Score 217.468
Status Validated
Chromosome 7
Chromosomal Location 55491556-55582381 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AGTGT to AGT at 55577937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000032635] [ENSMUST00000085255] [ENSMUST00000117812] [ENSMUST00000119041] [ENSMUST00000119201] [ENSMUST00000163845] [ENSMUST00000206862]
AlphaFold Q7TMB8
Predicted Effect probably null
Transcript: ENSMUST00000032629
SMART Domains Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447

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: ENSMUST00000032635
SMART Domains Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 6 306 3.2e-150 PFAM
Pfam:EmrE 16 135 6.2e-12 PFAM
Pfam:EamA 52 128 9.5e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000085255
SMART Domains Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1222 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117812
SMART Domains Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 8 302 1.4e-151 PFAM
Pfam:EamA 47 128 4.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119041
SMART Domains Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 6 306 3.2e-150 PFAM
Pfam:EmrE 16 135 6.2e-12 PFAM
Pfam:EamA 52 128 9.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119201
SMART Domains Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 6 306 3.2e-150 PFAM
Pfam:EmrE 16 135 6.2e-12 PFAM
Pfam:EamA 52 128 9.5e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163845
SMART Domains Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1224 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206862
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,943,275 (GRCm39) T60M probably benign Het
Actn4 C T 7: 28,661,509 (GRCm39) A34T probably benign Het
Acvrl1 A G 15: 101,041,245 (GRCm39) M466V probably benign Het
Adamts7 T C 9: 90,067,868 (GRCm39) Y453H probably damaging Het
Amfr G A 8: 94,711,484 (GRCm39) P351S probably damaging Het
Ankrd26 G A 6: 118,516,688 (GRCm39) T492M probably benign Het
Anxa6 A G 11: 54,876,993 (GRCm39) F547L probably damaging Het
Ap5m1 T G 14: 49,318,384 (GRCm39) Y394D unknown Het
Atic G A 1: 71,610,014 (GRCm39) V342I probably benign Het
Atl1 C A 12: 70,002,127 (GRCm39) T362N probably benign Het
Atp10a A T 7: 58,447,219 (GRCm39) M654L probably benign Het
B3gnt5 A T 16: 19,588,503 (GRCm39) M241L probably benign Het
Bbs7 A G 3: 36,659,877 (GRCm39) V186A possibly damaging Het
Brme1 A G 8: 84,898,842 (GRCm39) T577A probably benign Het
C8b T C 4: 104,637,795 (GRCm39) L89P probably damaging Het
Capn7 G T 14: 31,092,678 (GRCm39) E742* probably null Het
Ccdc162 G A 10: 41,437,187 (GRCm39) R1741C probably damaging Het
Cdhr17 T C 5: 17,041,592 (GRCm39) V615A possibly damaging Het
Chsy3 T A 18: 59,542,047 (GRCm39) L395H probably damaging Het
Cnot9 A G 1: 74,556,388 (GRCm39) T62A probably benign Het
Cyp2d12 T A 15: 82,441,849 (GRCm39) probably null Het
Dnah7a A G 1: 53,436,420 (GRCm39) V3974A probably benign Het
Dync1h1 G A 12: 110,584,196 (GRCm39) G533D possibly damaging Het
Eddm13 T G 7: 6,271,801 (GRCm39) M77R probably benign Het
Elfn1 A G 5: 139,958,228 (GRCm39) S411G probably benign Het
Enpp3 T C 10: 24,652,782 (GRCm39) D725G possibly damaging Het
Fmnl1 T C 11: 103,073,595 (GRCm39) probably null Het
Fndc8 T C 11: 82,783,151 (GRCm39) M44T probably benign Het
Gcgr A T 11: 120,425,538 (GRCm39) probably benign Het
Ggt1 T A 10: 75,410,110 (GRCm39) V14D possibly damaging Het
Gigyf2 A G 1: 87,331,447 (GRCm39) I198M unknown Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm6034 T A 17: 36,367,331 (GRCm39) S59T unknown Het
Gm6408 G A 5: 146,421,180 (GRCm39) V270I probably benign Het
Gpr20 A T 15: 73,567,981 (GRCm39) I136N probably damaging Het
Ide T C 19: 37,268,160 (GRCm39) E565G Het
Igsf9 T C 1: 172,322,349 (GRCm39) S515P probably damaging Het
Kbtbd12 G A 6: 88,590,965 (GRCm39) R416* probably null Het
Kcnd3 A T 3: 105,576,400 (GRCm39) I615F probably damaging Het
Kcnk7 A T 19: 5,756,805 (GRCm39) M265L probably benign Het
Klhdc1 G A 12: 69,309,923 (GRCm39) S275N probably damaging Het
Ldc1 C G 4: 130,112,992 (GRCm39) A135P probably damaging Het
Lrba A C 3: 86,302,553 (GRCm39) N1871T probably damaging Het
Lrrk1 A G 7: 65,982,134 (GRCm39) V169A probably damaging Het
Magi1 A G 6: 93,660,070 (GRCm39) I1175T probably benign Het
Man1a2 T C 3: 100,489,369 (GRCm39) T537A possibly damaging Het
Mrpl17 T C 7: 105,459,209 (GRCm39) N129S probably damaging Het
Mup5 G A 4: 61,750,622 (GRCm39) R174C probably damaging Het
Ndufaf1 G A 2: 119,488,877 (GRCm39) R216C probably damaging Het
Neb T C 2: 52,224,671 (GRCm39) probably null Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or52m2 A T 7: 102,263,974 (GRCm39) M74K probably damaging Het
Or5a1 T C 19: 12,097,912 (GRCm39) T55A probably benign Het
Or8b12b G A 9: 37,684,711 (GRCm39) G252D possibly damaging Het
Osbpl8 C T 10: 111,110,872 (GRCm39) P458L possibly damaging Het
Pcdh20 T C 14: 88,706,511 (GRCm39) E263G possibly damaging Het
Pkd1l1 A G 11: 8,895,241 (GRCm39) L623P Het
Plxdc1 T C 11: 97,823,153 (GRCm39) T363A possibly damaging Het
Pole3 T C 4: 62,442,287 (GRCm39) D111G unknown Het
R3hdm2 T A 10: 127,294,022 (GRCm39) L172Q probably damaging Het
Rbm33 T C 5: 28,599,322 (GRCm39) V90A Het
Rcbtb1 C G 14: 59,465,828 (GRCm39) I390M probably damaging Het
Romo1 G A 2: 155,986,295 (GRCm39) probably benign Het
Sars1 A G 3: 108,335,519 (GRCm39) Y410H probably damaging Het
Sesn2 T C 4: 132,224,724 (GRCm39) T327A probably benign Het
Slc30a5 A G 13: 100,945,762 (GRCm39) V530A probably damaging Het
Slc30a9 G A 5: 67,473,044 (GRCm39) E43K probably benign Het
Slc38a2 A C 15: 96,589,240 (GRCm39) L418W probably damaging Het
Snx14 T C 9: 88,276,614 (GRCm39) E557G possibly damaging Het
Spata33 T A 8: 123,948,737 (GRCm39) I123K probably damaging Het
Tdrd3 A T 14: 87,714,839 (GRCm39) H170L probably damaging Het
Trpm1 A G 7: 63,868,854 (GRCm39) probably null Het
Tsr3 A T 17: 25,461,569 (GRCm39) E302D probably benign Het
Ttll11 A G 2: 35,792,685 (GRCm39) I386T probably damaging Het
Usp2 C T 9: 43,987,266 (GRCm39) T188M possibly damaging Het
Usp44 A G 10: 93,681,855 (GRCm39) I102V probably benign Het
Wasf1 A G 10: 40,802,546 (GRCm39) N67S probably benign Het
Zfp445 T C 9: 122,681,208 (GRCm39) N911S probably benign Het
Zfp467 A G 6: 48,421,903 (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
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
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
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'- TGGGTACTTTGTGTCTTTCATCTACT -3'
(R):5'- TGTGTCAATAATCTGAAAATGCAGT -3'

Sequencing Primer
(F):5'- TCCTATTGATGACCAATGAGGCC -3'
(R):5'- GAAAATGCAGTTAAGATAAGTAGATC -3'
Posted On 2019-06-26