Incidental Mutation 'R4887:Cyfip1'
ID 472616
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 041979-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4887 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 55491556-55582381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55521816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 40 (P40L)
Ref Sequence ENSEMBL: ENSMUSP00000082353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000085255] [ENSMUST00000163845] [ENSMUST00000173783] [ENSMUST00000206862]
AlphaFold Q7TMB8
Predicted Effect probably benign
Transcript: ENSMUST00000032629
AA Change: P40L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: P40L

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: P40L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: P40L

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1222 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163845
AA Change: P40L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: P40L

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: P40L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000134509
Gene: ENSMUSG00000030447
AA Change: P40L

DomainStartEndE-ValueType
PDB:4N78|A 1 230 1e-142 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000206862
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A C 1: 138,779,903 (GRCm39) Y116* probably null Het
Abtb3 C T 10: 85,223,242 (GRCm39) T17M unknown Het
Acer3 T C 7: 97,906,908 (GRCm39) T91A possibly damaging Het
Acsbg3 A T 17: 57,183,324 (GRCm39) I22F possibly damaging Het
Adam12 T C 7: 133,774,550 (GRCm39) K20E possibly damaging Het
Adamtsl3 T C 7: 82,223,822 (GRCm39) V275A possibly damaging Het
Afg1l C T 10: 42,330,374 (GRCm39) V98I probably benign Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Alpk1 C T 3: 127,467,124 (GRCm39) G1052R probably damaging Het
Anln A T 9: 22,291,484 (GRCm39) S115T possibly damaging Het
Apob T A 12: 8,063,099 (GRCm39) N3827K probably damaging Het
Aqr G A 2: 113,980,990 (GRCm39) L264F probably damaging Het
Arhgap33 T C 7: 30,231,617 (GRCm39) S123G probably damaging Het
Arvcf C T 16: 18,216,863 (GRCm39) R333* probably null Het
Brca2 T A 5: 150,480,402 (GRCm39) L2724Q probably damaging Het
C2cd6 T A 1: 59,133,893 (GRCm39) T43S probably benign Het
Cacna1h A G 17: 25,596,261 (GRCm39) V1920A possibly damaging Het
Capsl A T 15: 9,457,858 (GRCm39) I26F possibly damaging Het
Card10 A T 15: 78,665,724 (GRCm39) V673E possibly damaging Het
Catspere2 A G 1: 177,931,515 (GRCm39) Y478C unknown Het
Ccar1 A G 10: 62,588,997 (GRCm39) S829P unknown Het
Ccdc121 A G 5: 31,643,596 (GRCm39) I109V probably benign Het
Cdc42bpa T C 1: 179,972,200 (GRCm39) M1334T possibly damaging Het
Ceacam2 C T 7: 25,220,257 (GRCm39) C267Y probably benign Het
Cep68 G A 11: 20,189,239 (GRCm39) T591M probably benign Het
Chil4 T C 3: 106,111,460 (GRCm39) K218R probably benign Het
Cldn14 G T 16: 93,716,747 (GRCm39) T33K possibly damaging Het
Copa T A 1: 171,919,843 (GRCm39) C140S probably benign Het
Coq6 T C 12: 84,419,070 (GRCm39) L358P probably damaging Het
Dennd2a A C 6: 39,474,093 (GRCm39) S414A probably benign Het
Dpm1 T C 2: 168,059,679 (GRCm39) N139S probably benign Het
Dpp7 T A 2: 25,242,770 (GRCm39) probably null Het
Ednrb T C 14: 104,057,447 (GRCm39) I372V possibly damaging Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Fam135a G A 1: 24,063,334 (GRCm39) Q1087* probably null Het
Fancg T C 4: 43,006,866 (GRCm39) T275A probably benign Het
Fbn1 T A 2: 125,151,694 (GRCm39) H2520L probably damaging Het
Fmn2 T C 1: 174,409,527 (GRCm39) S587P unknown Het
Foxr2 A G X: 151,913,312 (GRCm39) Q61R probably damaging Het
Frrs1 A G 3: 116,696,065 (GRCm39) *124W probably null Het
Gm7535 T A 17: 18,131,333 (GRCm39) probably benign Het
H4c1 T C 13: 23,944,935 (GRCm39) D69G probably damaging Het
Herc3 T C 6: 58,864,484 (GRCm39) V706A probably damaging Het
Hivep3 A G 4: 119,980,131 (GRCm39) E1723G probably damaging Het
Igsf9b A G 9: 27,233,946 (GRCm39) I382V probably benign Het
Ints1 G T 5: 139,756,911 (GRCm39) T467N possibly damaging Het
Iqca1 G A 1: 89,973,423 (GRCm39) T783M probably damaging Het
Kng1 A G 16: 22,886,448 (GRCm39) K131R possibly damaging Het
Krt35 T C 11: 99,983,956 (GRCm39) Y348C probably damaging Het
Ldlrad3 A G 2: 101,943,881 (GRCm39) C64R probably damaging Het
Lilrb4b C T 10: 51,360,616 (GRCm39) A272V possibly damaging Het
Lrrc37 T C 11: 103,505,698 (GRCm39) H2090R probably benign Het
Ltn1 A T 16: 87,195,697 (GRCm39) C1276* probably null Het
Matn1 G A 4: 130,679,425 (GRCm39) A360T probably benign Het
Minpp1 G A 19: 32,475,784 (GRCm39) V306I probably benign Het
Mkx G A 18: 6,992,904 (GRCm39) R127W probably damaging Het
Mrpl48 G T 7: 100,195,616 (GRCm39) probably benign Het
Ms4a2 A G 19: 11,595,793 (GRCm39) L166S possibly damaging Het
Mtus2 T A 5: 148,013,913 (GRCm39) Y235* probably null Het
Myh4 G T 11: 67,131,880 (GRCm39) W113C probably damaging Het
Nav2 T A 7: 49,198,182 (GRCm39) C1270* probably null Het
Ncoa5 A G 2: 164,844,070 (GRCm39) L111P probably damaging Het
Nup107 T C 10: 117,606,383 (GRCm39) Y453C probably damaging Het
Oca2 C T 7: 55,980,106 (GRCm39) Q604* probably null Het
Or13a19 T C 7: 139,903,014 (GRCm39) M134T probably benign Het
Or13p5 A C 4: 118,591,885 (GRCm39) H53P probably benign Het
Or14j10 A T 17: 37,934,782 (GRCm39) V248D probably damaging Het
Or5p58 T A 7: 107,694,303 (GRCm39) N158I probably benign Het
Or8g33 T C 9: 39,337,531 (GRCm39) T279A possibly damaging Het
Pde3a G T 6: 141,416,668 (GRCm39) G514V possibly damaging Het
Pik3cb A T 9: 98,983,381 (GRCm39) C76S probably damaging Het
Plk1 T C 7: 121,767,828 (GRCm39) V411A probably damaging Het
Pole C T 5: 110,472,619 (GRCm39) P1600L probably damaging Het
Prr36 T C 8: 4,260,881 (GRCm39) T979A probably benign Het
Rdh7 T A 10: 127,721,590 (GRCm39) T229S probably benign Het
Rnpepl1 A T 1: 92,842,835 (GRCm39) T140S probably damaging Het
Rps6kc1 A T 1: 190,530,891 (GRCm39) S947T probably benign Het
Rtl1 A G 12: 109,558,138 (GRCm39) F1234L probably damaging Het
Sdc1 G A 12: 8,841,708 (GRCm39) M279I probably damaging Het
Siae T C 9: 37,539,096 (GRCm39) L169P possibly damaging Het
Slc22a22 C T 15: 57,113,148 (GRCm39) V364I probably benign Het
Sltm G T 9: 70,496,260 (GRCm39) V932F probably damaging Het
Smad1 A G 8: 80,076,381 (GRCm39) L279P probably damaging Het
Spag17 G T 3: 99,958,147 (GRCm39) G935V probably damaging Het
Srgap3 A G 6: 112,723,895 (GRCm39) S546P probably damaging Het
Stxbp5 T C 10: 9,684,844 (GRCm39) I519V probably benign Het
Syt16 A T 12: 74,176,160 (GRCm39) I10F probably damaging Het
Trim43b C G 9: 88,973,365 (GRCm39) G123R probably damaging Het
Ubr3 T C 2: 69,843,475 (GRCm39) Y1572H probably damaging Het
Umodl1 G A 17: 31,227,639 (GRCm39) R1324H probably benign Het
Vmn2r44 A T 7: 8,380,985 (GRCm39) W303R probably benign Het
Wdr93 T C 7: 79,435,522 (GRCm39) Y684H probably damaging Het
Wnk2 G A 13: 49,224,478 (GRCm39) R268C probably damaging Het
Zfp438 C T 18: 5,213,776 (GRCm39) C394Y possibly 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
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'- AGTGACACTAGAGGACGCAC -3'
(R):5'- GGCAAAGAATTTCTCTGGGC -3'

Sequencing Primer
(F):5'- ACGCACTGTCCAATGTGG -3'
(R):5'- GGTGTCCTGGAACTCACTCTATAAG -3'
Posted On 2017-04-14